| 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 |
| Ringed Hair |
|
Abnormal hair morphology |
OMIM:180600 |
| Hairy Nose Tip |
|
Abnormal hair morphology |
OMIM:139630 |
| Striate Palmoplantar Keratoderma |
|
Abnormal hair morphology, Abnormality of the nail |
ORPHA:50942 |
| Keratosis Palmoplantaris Striata Iii |
|
Abnormal hair morphology, Abnormality of the nail |
OMIM:607654 |
| Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis |
|
Sparse hair |
OMIM:246500 |
| Hypotrichosis 1 |
|
Sparse body hair, Sparse eyebrow, Sparse axillary hair, Sparse pubic hair, Sparse eyelashes, Spar... |
OMIM:605389 |
| Pseudopili Annulati |
|
Abnormality of hair texture, Abnormality of the scalp hair |
OMIM:613241 |
| Ringed Hair Disease |
|
Abnormal hair pattern, Fine hair |
ORPHA:169 |
| Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
| Witkop Syndrome |
|
Small nail, Fine hair, Nail pits, Ridged nail, Concave nail, Sparse hair |
OMIM:189500 |
| Atrichia With Papular Lesions |
|
Sparse hair |
OMIM:209500 |
| Hypotrichosis 9 |
|
Sparse body hair, Sparse scalp hair |
OMIM:614237 |
| Hypotrichosis Simplex |
|
Sparse body hair, Alopecia, Sparse eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse hair |
ORPHA:55654 |
| Hypotrichosis 4 |
|
Sparse body hair, Alopecia, Sparse eyebrow, Sparse scalp hair, Uncombable hair, Sparse eyelashes |
OMIM:146550 |
| Hypotrichosis 11 |
|
Aplasia/Hypoplasia of the eyebrow, Alopecia universalis, Sparse hair, Absent axillary hair, Spars... |
OMIM:615059 |
| Hypotrichosis 10 |
|
Sparse body hair, Sparse eyelashes, Sparse eyebrow |
OMIM:614238 |
| Uncombable Hair Syndrome 2 |
|
Pili canaliculi, Uncombable hair |
OMIM:617251 |
| Hypotrichosis 15 |
|
Sparse scalp hair |
OMIM:620177 |
| Hypotrichosis 2 |
|
Sparse scalp hair |
OMIM:146520 |
| Ichthyosis-Hypotrichosis Syndrome |
|
Sparse hair |
ORPHA:91132 |
| Alopecia, Congenital |
|
Alopecia, Sparse hair |
OMIM:300042 |
| Ectodermal Dysplasia 6, Hair/Nail Type |
|
Alopecia, Thin toenail, Sparse hair, Dystrophic toenail |
OMIM:614928 |
| Acrokeratoderma, Hereditary Papulotranslucent |
|
Fine hair |
OMIM:101840 |
| Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
|
Reduced terminal:vellus ratio, Sparse hair, Pili torti |
OMIM:601553 |
| Osteopenia And Sparse Hair |
|
Sparse hair |
OMIM:259690 |
| Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Sparse body hair, Alopecia, Hypoplastic toenails, Sparse eyebrow, Abnormal fingernail morphology,... |
ORPHA:2722 |
| Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Trichorrhexis nodosa, Curly hair, Fine hair, Sparse eyelashes, Sparse hair |
OMIM:616760 |
| Syringocystadenoma Papilliferum |
|
Sparse scalp hair |
ORPHA:840 |
| Ectodermal Dysplasia 9, Hair/Nail Type |
|
Absent hair, Absent eyelashes, Nail dysplasia, Concave nail, Sparse hair, Nail dystrophy, Atrichia |
OMIM:614931 |
| Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome |
|
Abnormality of hair texture, Aplasia/Hypoplasia of the eyebrow, Pili torti, Sparse or absent eyel... |
ORPHA:2891 |
| Trichodysplasia-Xeroderma Syndrome |
|
Sparse body hair, Alopecia, Sparse eyebrow, Sparse scalp hair, Trichorrhexis nodosa, Pili torti, ... |
ORPHA:3361 |
| Tooth Agenesis, Selective, 8 |
|
Sparse eyebrow, Sparse hair, Dry skin |
OMIM:617073 |
| Graham Little-Piccardi-Lassueur Syndrome |
|
Alopecia, Sparse scalp hair, Sparse pubic hair, Sparse axillary hair |
ORPHA:505 |
| Uncombable Hair Syndrome |
|
Trichodysplasia, Woolly hair, White hair, Patchy alopecia, Coarse hair, Abnormal hair morphology |
ORPHA:1410 |
| Aredyld |
|
Generalized hypotrichosis |
OMIM:207780 |
| Angioma Serpiginosum, X-Linked |
|
Sparse hair, Nail dystrophy, Fine hair |
OMIM:300652 |
| Alopecia Universalis Congenita |
|
Absent eyelashes, Alopecia universalis, Absent pubic hair, Absent eyebrow, Absent axillary hair |
OMIM:203655 |
| Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Facial erythema, Palmoplantar hyperkeratosis, Alopecia totalis, Nail dystrophy, Nail dysplasia, H... |
OMIM:212360 |
| Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
| Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type |
|
Sparse scalp hair, Sparse axillary hair, Sparse pubic hair, Abnormality of the nail, Onychogrypos... |
ORPHA:1808 |
| Ectodermal Dysplasia 4, Hair/Nail Type |
|
Sparse body hair, Alopecia, Pili torti, Brittle hair, Absent eyelashes, Temporal hypotrichosis, O... |
OMIM:602032 |
| Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Sparse body hair, Alopecia, Dystrophic toenail, Alopecia of scalp, Onychogryposis of toenails |
OMIM:617294 |
| Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Sparse hair, Woolly hair |
OMIM:278200 |
| Monilethrix |
|
Alopecia, Brittle hair, Nail dysplasia, Abnormality of hair texture, Sparse hair, Nail dystrophy |
OMIM:158000 |
| Pili Torti |
|
Alopecia, Abnormal eyebrow morphology, Pili torti, Brittle hair, Abnormality of the nail, Abnorma... |
ORPHA:2889 |
| Hypertrichosis Lanuginosa Congenita |
|
Double eyebrow, Congenital, generalized hypertrichosis |
OMIM:145700 |
| Alopecia Areata 2 |
|
Alopecia of scalp, Alopecia universalis, Patchy alopecia, Alopecia totalis |
OMIM:610753 |
| Woolly Hair |
|
Sparse body hair, Sparse lateral eyebrow, Brittle hair, Fine hair, Woolly hair, Hypopigmentation ... |
ORPHA:170 |
| Hair Defect With Photosensitivity And Mental Retardation |
|
Sparse eyebrow, Brittle hair, Coarse hair, Sparse eyelashes, Sparse hair |
OMIM:234030 |
| Uncombable Hair Syndrome 3 |
|
Pili canaliculi, Curly hair, Uncombable hair, Brittle hair |
OMIM:617252 |
| Alopecia Areata 1 |
|
Trachyonychia, Alopecia universalis, Alopecia totalis, Nail pits, Patchy alopecia |
OMIM:104000 |
| Alopecia Universalis |
|
Absent eyelashes, Absent eyebrow, Alopecia universalis, Patchy alopecia |
ORPHA:701 |
| Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
| Marie Unna Hereditary Hypotrichosis |
|
Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair, Coarse hair, Sparse or absent eye... |
ORPHA:444 |
| Hypotrichosis 8 |
|
Dry hair, Sparse eyebrow, Sparse scalp hair, Fair hair, Sparse axillary hair, Woolly hair, Nail p... |
OMIM:278150 |
| Hypertrichosis, Congenital Generalized |
|
Hirsutism, Congenital, generalized hypertrichosis |
OMIM:307150 |
| Hypotrichosis 7 |
|
Sparse body hair, Sparse eyebrow, Sparse scalp hair, Brittle hair, Sparse axillary hair, Abnormal... |
OMIM:604379 |
| Alopecia-Intellectual Disability Syndrome 1 |
|
Alopecia, Alopecia universalis |
OMIM:203650 |
| Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Sparse hair |
ORPHA:401911 |
| Palmoplantar Keratoderma And Woolly Hair |
|
Sparse body hair, Sparse eyebrow, Sparse scalp hair, Leukonychia, Woolly hair, Sparse eyelashes |
OMIM:616099 |
| Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Fine hair, Abnormality of the nail, Abnormal eyelash m... |
ORPHA:573 |
| Ectodermal Dysplasia 5, Hair/Nail Type |
|
Absent toenail, Sparse scalp hair, Dystrophic fingernails |
OMIM:614927 |
| Dermoodontodysplasia |
|
Nail dysplasia, Dry skin, Trichodysplasia |
OMIM:125640 |
| Alopecia, Familial Focal |
|
Patchy alopecia |
OMIM:104110 |
| Hidrotic Ectodermal Dysplasia |
|
Alopecia, Sparse eyebrow, Sparse scalp hair, Small nail, Brittle scalp hair, Sparse axillary hair... |
ORPHA:189 |
| Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Abnormal hair morphology, Hyperkeratosis, Palmoplantar hyperkeratosis, Onychogryposis |
OMIM:617756 |
| Ulerythema Ophryogenesis |
|
Facial erythema, Hyperkeratotic papule, Sparse lateral eyebrow, Follicular hyperkeratosis, Dry skin |
ORPHA:3406 |
| Crandall Syndrome |
|
Sparse body hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Pili torti, Brittle hair, Fine hair |
ORPHA:202 |
| Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
| Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
| Hypotrichosis 12 |
|
Dry hair, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Sparse or absent eyelashes, Slow-growin... |
OMIM:615885 |
| Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia, Alopecia of scalp |
OMIM:260910 |
| Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
| Trichodental Dysplasia |
|
Slow-growing hair, Sparse hair, Fine hair, Brittle hair |
OMIM:601453 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Woolly hair |
OMIM:610476 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Sparse body hair, Sparse scalp hair, Alopecia universalis, Abnormal eyelash morphology |
ORPHA:1008 |
| Hypotrichosis 6 |
|
Sparse eyebrow, Pili torti, Brittle hair, Sparse eyelashes, Sparse hair |
OMIM:607903 |
| Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Fine hair, Abnormal fingernail morphology, Abnormal toenail morphology, Abnormal hair m... |
ORPHA:248 |
| Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Sparse eyebrow, Fine hair, Ridged nail, Sparse eyelashes, Sparse hair, Dry skin, Slow-growing hair |
OMIM:129490 |
| Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality |
|
Congenital alopecia totalis, Alopecia universalis |
OMIM:104130 |
| Ectodermal Dysplasia, Trichoodontoonychial Type |
|
Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Abnormal eyelash morphology, Abnormal toenai... |
ORPHA:1818 |
| Alpha-Methylacetoacetic Aciduria |
|
Dehydration |
OMIM:203750 |
| Carvajal Syndrome |
|
Woolly hair |
ORPHA:65282 |
| Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Alopecia totalis |
ORPHA:1014 |
| Hairy Elbows |
|
Elbow hypertrichosis |
OMIM:139600 |
| Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
| Cataract 35 |
|
Cataract |
OMIM:609376 |
| Cataract 36 |
|
Cataract |
OMIM:613887 |
| Cataract 29 |
|
Cataract |
OMIM:115800 |
| Hypotrichosis 13 |
|
Abnormal sweat gland morphology, Sparse eyelashes, Sparse hair, Woolly hair |
OMIM:615896 |
| Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Sparse body hair, Sparse scalp hair, Sparse eyelashes, Palmoplantar keratoderma, Sparse hair, Dry... |
OMIM:618535 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Erythrokeratodermia Variabilis |
|
Alopecia, Weight loss, Abnormality of the nail, Patchy palmoplantar hyperkeratosis, Erythema, Abn... |
ORPHA:317 |
| Uncombable Hair Syndrome 1 |
|
Dry hair, Pili canaliculi, Uncombable hair |
OMIM:191480 |
| Hypertrichosis, Anterior Cervical |
|
Anterior cervical hypertrichosis |
OMIM:600457 |
| Hypertrichosis Universalis Congenita, Ambras Type |
|
Congenital, generalized hypertrichosis |
OMIM:145701 |
| Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Sparse hair, Fine hair |
ORPHA:1174 |
| Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Palmoplantar keratoderma, Hyperkeratosis, Recurrent cutaneous fungal infections |
OMIM:244850 |
| Sabinas Brittle Hair Syndrome |
|
Dry hair, Brittle hair, Nail dysplasia, Sparse hair, Nail dystrophy |
OMIM:211390 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Supernumerary nipple, Fine hair, Abnormal fingernail morphology, Abnormal toenail morphology, Ung... |
ORPHA:1433 |
| Parc Syndrome |
|
Absent eyelashes, Alopecia, Absent eyebrow |
OMIM:600331 |
| Pili Torti-Onychodysplasia Syndrome |
|
Sparse body hair, Alopecia, Brittle hair, Absent eyelashes, Alopecia universalis, Trichodysplasia... |
ORPHA:2890 |
| Björnstad Syndrome |
|
Alopecia, Brittle hair |
ORPHA:123 |
| Woolly Hair, Autosomal Dominant |
|
Dry hair, Abnormal eyebrow morphology, Woolly hair, Abnormal eyelash morphology, Coarse hair, Slo... |
OMIM:194300 |
| Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
| Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
|
Widow's peak, Thick eyebrow, Sparse hair |
OMIM:606242 |
| Schopf-Schulz-Passarge Syndrome |
|
Apocrine hidrocystoma, Small nail, Poroma, Thin nail, Onycholysis, Ridged nail, Narrow nail, Spar... |
OMIM:224750 |
| Ichthyosis, Lamellar, Autosomal Dominant |
|
Hyperkeratosis, Pruritus |
OMIM:146750 |
| L-Ferritin Deficiency |
|
Alopecia |
OMIM:615604 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Trichothiodystrophy 7, Nonphotosensitive |
|
Tiger tail banding, Brittle hair |
OMIM:618546 |
| Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
| Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Sparse eyebrow, Palmoplantar erythema, Leukonychia, Brittle hair, Epidermal hyperkerato... |
OMIM:104100 |
| Trichothiodystrophy 9, Nonphotosensitive |
|
Sparse eyebrow, Nail dystrophy, Tiger tail banding, Sparse hair |
OMIM:619692 |
| Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Fragile nails, Fine hair |
ORPHA:500166 |
| Ectodermal Dysplasia 7, Hair/Nail Type |
|
Alopecia, Sparse eyebrow, Sparse scalp hair, Dystrophic toenail, Brittle hair, Onycholysis, Abnor... |
OMIM:614929 |
| Moynahan Syndrome |
|
Alopecia, Hyperkeratosis, Cachexia, Sparse hair |
ORPHA:2574 |
| Hypotrichosis-Intellectual Disability, Lopes Type |
|
Sparse hair |
ORPHA:2266 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Dehydration |
OMIM:601410 |
| Hawkinsinuria |
|
Sparse hair, Fine hair |
ORPHA:2118 |
| Bazex-Dupré-Christol Syndrome |
|
Sparse eyebrow, Sparse scalp hair, Trichorrhexis nodosa, Pili torti, Coarse hair, Sparse hair, Sp... |
ORPHA:113 |
| Diarrhea 4, Malabsorptive, Congenital |
|
Dehydration |
OMIM:610370 |
| Thumb Deformity And Alopecia |
|
Alopecia |
OMIM:188150 |
| Dermoodontodysplasia |
|
Sparse body hair, Toenail dysplasia, Sparse scalp hair, Fingernail dysplasia, Trichodysplasia, Dr... |
ORPHA:1660 |
| Glycosylphosphatidylinositol Biosynthesis Defect 25 |
|
Sparse hair, Coarse hair |
OMIM:619985 |
| Aniridia 3 |
|
Cataract |
OMIM:617142 |
| Hypodontia-Dysplasia Of Nails Syndrome |
|
Hypoplastic toenails, Fine hair, Abnormality of the nail, Abnormal fingernail morphology, Hypopla... |
ORPHA:2228 |
| Focal Facial Dermal Dysplasia 3, Setleis Type |
|
Absent lower eyelashes, Distichiasis, Sparse hair, Low anterior hairline |
OMIM:227260 |
| Lactase Deficiency, Congenital |
|
Dehydration |
OMIM:223000 |
| Pili Torti, Early-Onset |
|
Dry hair, Pili torti, Brittle hair, Coarse hair, Hair shafts flattened at irregular intervals and... |
OMIM:261900 |
| Syndromic X-Linked Intellectual Disability 7 |
|
Sparse body hair |
ORPHA:85274 |
| Krt1-Related Diffuse Nonepidermolytic Keratoderma |
|
Palmoplantar scaling skin, Scaling skin, Nonepidermolytic palmoplantar hyperkeratosis, Diffuse pa... |
ORPHA:530838 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Sparse eyebrow, Cutis laxa, Scaling skin, Alopecia of scalp, Absent pubic hair, Dry skin, General... |
ORPHA:2269 |
| Focal Facial Dermal Dysplasia Type I |
|
Sparse lateral eyebrow, Absent eyelashes, Distichiasis, Sparse hair, Low anterior hairline |
ORPHA:79133 |
| Cervical Hypertrichosis With Underlying Kyphoscoliosis |
|
Sacral hypertrichosis, Lumbar hypertrichosis, Anterior cervical hypertrichosis, Thoracic hypertri... |
OMIM:117850 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Corneal Dystrophy, Groenouw Type I |
|
Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy |
OMIM:121900 |
| Loose Anagen Syndrome |
|
Abnormal hair morphology, Abnormal hair whorl |
ORPHA:168 |
| Hypotrichosis And Recurrent Skin Vesicles |
|
Sparse body hair, Sparse eyebrow, Skin vesicle, Sparse scalp hair, Leukonychia, Sparse axillary h... |
OMIM:613102 |
| Hypotrichosis 14 |
|
Sparse body hair, Sparse pubic hair, Short eyelashes, Sparse hair, Absent axillary hair |
OMIM:618275 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... |
OMIM:603902 |
| Classic Mycosis Fungoides |
|
Alopecia, Skin ulcer, Abnormality of the nail, Erythema, Hyperkeratosis, Dry skin |
ORPHA:2584 |
| Ichthyosis Hystrix, Lambert Type |
|
Orthokeratotic hyperkeratosis, Hyperkeratosis |
OMIM:146600 |
| Rothmund-Thomson Syndrome, Type 1 |
|
Absent eyelashes, Thin nail, Absent eyebrow, Sparse hair, Nail dystrophy |
OMIM:618625 |
| Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:613978 |
| Huriez Syndrome |
|
Lack of skin elasticity, Small nail, Abnormality of the nail, Palmoplantar keratoderma, Dry skin |
ORPHA:384 |
| Bjornstad Syndrome |
|
Alopecia, Dry hair, Pili torti, Brittle hair, Coarse hair, Hair shafts flattened at irregular int... |
OMIM:262000 |
| Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Fine hair, ... |
ORPHA:79414 |
| Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Alopecia, Nail dystrophy |
OMIM:616487 |
| Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Facial erythema, Sparse eyebrow, Scarring alopecia of scalp, Dry skin, Follicular hyperkeratosis,... |
OMIM:308800 |
| Oliver-Mcfarlane Syndrome |
|
Alopecia, Long eyebrows, Long eyelashes, Sparse hair |
OMIM:275400 |
| Cardiofaciocutaneous Syndrome 2 |
|
Curly hair, Absent eyebrow, Sparse hair, Fine hair |
OMIM:615278 |
| Delta-Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Microcytic anemia |
ORPHA:231237 |
| Chronic Hiccup |
|
Dehydration |
ORPHA:396 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Alopecia, Fingernail dysplasia, Ridged fingernail, Onychogryposis of fingernail, Sparse hair |
ORPHA:2251 |
| Anonychia With Flexural Pigmentation |
|
Anonychia, Dry skin |
OMIM:106750 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Alopecia, Ridged nail, Nail dystrophy, Nail pits |
OMIM:601705 |
| Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
| Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyebrow morphology, Sparse scalp hair, Abnormality of the pubic hair, Fine hair, Abnorma... |
ORPHA:90368 |
| Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Alopecia, Sparse eyebrow, Sparse scalp hair, Dystrophic toenail, Fine hair, Dystrophic fingernails |
ORPHA:1882 |
| Hidrotic Ectodermal Dysplasia, Halal Type |
|
Sparse body hair, Sparse scalp hair, Absent eyelashes, Supernumerary nipple, Trichodysplasia, Abn... |
ORPHA:1809 |
| Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Alopecia, Hypoplastic toenails, Sparse scalp hair, Small nail, Pili torti, Absent facial hair, Pa... |
OMIM:613573 |
| Erythrokeratodermia Variabilis Et Progressiva 2 |
|
Hypertrichosis |
OMIM:617524 |
| Alopecia Antibody Deficiency |
|
Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Abnormal eyelash morphology |
ORPHA:1006 |
| Erythrokeratodermia Variabilis Et Progressiva 7 |
|
Dystrophic toenail, Woolly hair |
OMIM:619209 |
| Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Tiger tail banding, Brittle hair, Small for gestational age, Dry skin, Slow-growing hair |
OMIM:616943 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:231242 |
| Cataract 12, Multiple Types |
|
Progressive cataract, Developmental cataract |
OMIM:611597 |
| Combined Malonic And Methylmalonic Aciduria |
|
Dehydration |
OMIM:614265 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Trichothiodystrophy 2, Photosensitive |
|
Tiger tail banding, Coarse hair |
OMIM:616390 |
| Chand Syndrome |
|
Nail dysplasia, Curly hair |
OMIM:214350 |
| Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Sparse body hair, Nail dystrophy, Anonychia, Scarring alopecia of scalp |
ORPHA:79402 |
| Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Dehydration |
OMIM:251850 |
| Pilodental Dysplasia With Refractive Errors |
|
Brittle scalp hair, Sparse scalp hair, Abnormality of the nail, Brittle hair |
OMIM:262020 |
| Naxos Disease |
|
Abnormality of hair texture, Sparse scalp hair, Curly hair, Woolly hair |
ORPHA:34217 |
| Hypotrichosis With Juvenile Macular Degeneration |
|
Sparse scalp hair, Pili torti, Fine hair, Brittle hair |
ORPHA:1573 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... |
ORPHA:2133 |
| Hypotrichosis 5 |
|
Alopecia, Thin eyebrow, Abnormality of the nail, Abnormal sweat gland morphology, Absent pubic ha... |
OMIM:612841 |
| Tricho-Retino-Dento-Digital Syndrome |
|
Uncombable hair, Sparse hair |
ORPHA:1264 |
| Ectodermal Dysplasia 13, Hair/Tooth Type |
|
Sparse eyelashes, Thin eyebrow, Low anterior hairline, Brittle hair |
OMIM:617392 |
| Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Absent eyelashes, Alopecia of scalp, Absent eyebrow, Sparse hair, Dystrophic fingernails, Nail dy... |
OMIM:604536 |
| Porokeratosis Of Mibelli |
|
Hyperkeratosis, Pruritus |
ORPHA:735 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Sparse eyebrow, Brittle hair, Progressive hypotrichosis, Nail dysplasia, Sparse eyelashes, Abnorm... |
OMIM:225060 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Sparse body hair, Sparse eyebrow, Curly hair, Pili torti, Brittle hair, Curly eyelashes, Sparse e... |
OMIM:602400 |
| Clouston Syndrome |
|
Alopecia, Sparse eyebrow, Small nail, Brittle hair, Alopecia totalis, Fine hair, Onycholysis, Nai... |
OMIM:129500 |
| Congenital Short Bowel Syndrome |
|
Sparse hair |
ORPHA:2301 |
| Acquired Ichthyosis |
|
Hyperkeratosis, Palmoplantar keratoderma, Dry skin, Erythema |
ORPHA:454 |
| Schöpf-Schulz-Passarge Syndrome |
|
Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse hair |
ORPHA:50944 |
| Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
| Odontoonychodermal Dysplasia |
|
Sparse body hair, Dystrophic toenail, Dry hair, Sparse scalp hair, Sparse eyebrow, Palmoplantar e... |
OMIM:257980 |
| Heyn-Sproul-Jackson Syndrome |
|
Sparse hair |
OMIM:618724 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract, Fava bean-induced hemolytic anemia |
OMIM:618660 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
| Proliferating Trichilemmal Cyst |
|
Sparse scalp hair |
ORPHA:492 |
| Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Sparse body hair, Sparse hair, Abnormal fingernail morphology |
ORPHA:1810 |
| Pseudoprogeria Syndrome |
|
Alopecia, Sparse eyebrow, Absent eyelashes, Absent eyebrow, Sparse hair |
ORPHA:2985 |
| Pseudopelade Of Brocq |
|
Alopecia, Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow, Abnormality of the nail, Abnormal... |
ORPHA:129 |
| Palmoplantar Keratoderma-Deafness Syndrome |
|
Palmoplantar keratoderma, Hyperkeratosis |
ORPHA:2202 |
| Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death, Dehydration |
OMIM:602199 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Hypoplastic toenails, Fine hair, Abnormal fingernail morphology, Onycholysis, Hyperkeratosis, Dry... |
ORPHA:1028 |
| Trichomegaly |
|
Cataract |
OMIM:190330 |
| Nail Disorder, Nonsyndromic Congenital, 3 |
|
Abnormal hair morphology, Leukonychia, Concave nail |
OMIM:151600 |
| Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Alopecia, Scaling skin, Alopecia of scalp, Nail dystrophy, Palmoplantar keratoderma, Dry skin |
OMIM:618373 |
| Amaurosis-Hypertrichosis Syndrome |
|
Synophrys, Thick eyebrow, Abnormal eyelash morphology, Coarse hair |
ORPHA:1021 |
| Lamellar Ichthyosis |
|
Lack of skin elasticity, Aplasia/Hypoplasia of the eyebrow, Abnormality of the nail, Hyperkeratos... |
ORPHA:313 |
| Olmsted Syndrome 2 |
|
Alopecia universalis, Palmoplantar hyperkeratosis, Woolly hair, Parakeratosis, Palmoplantar kerat... |
OMIM:619208 |
| Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Familial Melanoma |
|
Abnormal hair morphology, Dry skin |
ORPHA:618 |
| Xq27.3Q28 Duplication Syndrome |
|
Sparse body hair |
ORPHA:261483 |
| Cataract-Microcornea Syndrome |
|
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy |
ORPHA:1377 |
| Amyloidosis, Primary Localized Cutaneous, 3 |
|
Dry skin |
OMIM:617920 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dehydration |
ORPHA:79159 |
| X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Sparse hair |
ORPHA:181 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Sparse hair |
OMIM:613576 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Coarse hair, Sparse hair, Brittle hair |
ORPHA:1883 |
| Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome |
|
Dry skin |
ORPHA:2271 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Cutis laxa, Hypertrichosis, Failure to thrive, Hyperkeratosis, Dry skin |
OMIM:612379 |
| Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
| Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
| Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
| Bazex Syndrome |
|
Trichorrhexis nodosa, Pili torti, Coarse hair, Trichoepithelioma, Sparse hair |
OMIM:301845 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Premature graying of hair, Alopecia of scalp, Abnormal hair quantity, Low posterior hairline, Dry... |
ORPHA:2617 |
| Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Leukonychia, Onycholysis, Scaling skin, Punctate palmoplantar hyperkeratosis, Acantholysis, Hyper... |
OMIM:616295 |
| Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Absent hair, Sparse eyebrow, Facial erythema, Sparse scalp hair, Trichorrhexis nodosa, Abnormalit... |
ORPHA:1010 |
| Skin Fragility-Woolly Hair Syndrome |
|
Alopecia, Sparse eyebrow, Palmoplantar erythema, Palmoplantar hyperkeratosis, Woolly hair, Palmop... |
OMIM:607655 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Woolly hair |
OMIM:611528 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Polyhydramnios, Pustule, Dehydration |
OMIM:616069 |
| Complex Regional Pain Syndrome |
|
Slow-growing nails, Abnormality of hair growth, Dry skin, Erythema |
ORPHA:83452 |
| Eem Syndrome |
|
Sparse body hair, Sparse scalp hair, Absent eyebrow |
ORPHA:1897 |
| Congenital Heart Defects And Ectodermal Dysplasia |
|
High anterior hairline, Medial flaring of the eyebrow, Sparse scalp hair, Fragile nails, Dry skin |
OMIM:617364 |
| Hypotrichosis 3 |
|
Abnormal sweat gland morphology, Sparse scalp hair, Abnormal eyelash morphology, Abnormality of t... |
OMIM:613981 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Absent facial hair, Sparse facial hair, Low posterior hairline |
ORPHA:2183 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio |
OMIM:300448 |
| Lessel-Kubisch Syndrome |
|
Sparse pubic hair, Premature graying of hair |
OMIM:618681 |
| Ectodermal Dysplasia With Mental Retardation And Syndactyly |
|
Sparse eyebrow, Onychogryposis of toenails, Dry skin |
OMIM:600906 |
| Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Sparse body hair, Sparse scalp hair, Sparse lateral eyebrow, Absent eyelashes, Periorbital wrinkl... |
OMIM:614941 |
| Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Cataract, Splenomegaly |
OMIM:619813 |
| Peeling Skin Syndrome 6 |
|
Parakeratosis, Scaling skin, Dry skin, Orthokeratosis |
OMIM:618084 |
| Rhizomelic Chondrodysplasia Punctata |
|
Sparse body hair, Alopecia, Dry skin |
ORPHA:177 |
| Epidermolysis Bullosa Dystrophica, Pretibial |
|
Hyperkeratosis, Pruritus |
OMIM:131850 |
| Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Absent hair, Brittle hair, Absent nipple, Sparse hair, Dry skin |
OMIM:614940 |
| Recessive X-Linked Ichthyosis |
|
Hyperkeratosis, Dry skin |
ORPHA:461 |
| Copper Deficiency, Familial Benign |
|
Early balding, Curly hair |
OMIM:121270 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract, Anemia, Hepatosplenomegaly |
OMIM:273680 |
| Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
| Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Sparse axillary hair, Sparse pubic hair |
OMIM:146110 |
| White Sponge Nevus 2 |
|
Edema, Hyperparakeratosis |
OMIM:615785 |
| Ichthyosis Vulgaris |
|
Dry skin |
OMIM:146700 |
| Scalp Defects-Postaxial Polydactyly Syndrome |
|
Sparse scalp hair |
ORPHA:1003 |
| Gand Syndrome |
|
Sparse hair |
OMIM:615074 |
| Alopecia-Intellectual Disability Syndrome |
|
Sparse body hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair |
ORPHA:2850 |
| Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities |
|
Sparse hair |
OMIM:273390 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Woolly hair |
OMIM:605676 |
| Leopard Syndrome 3 |
|
Curly hair, Epidermal hyperkeratosis, Low posterior hairline, Hyperkeratosis, Dry skin |
OMIM:613707 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Small nail, Trichorrhexis nodosa, Brittle hair, Woolly hair, Nail dysplasia, Concave nail, Sparse... |
OMIM:234050 |
| Trichohepatoenteric Syndrome 2 |
|
Trichorrhexis nodosa, Brittle hair, Woolly hair, Uncombable hair, Sparse hair |
OMIM:614602 |
| Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Sparse body hair, Sparse eyebrow, Sparse scalp hair, Scarring alopecia of scalp, Sparse eyelashes |
ORPHA:59303 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:3319 |
| Olmsted Syndrome 1 |
|
Orthokeratosis, Alopecia universalis, Parakeratosis, Nail dysplasia, Subungual hyperkeratosis, Hy... |
OMIM:614594 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Sparse eyebrow, Alopecia, Orthokeratosis, Parakeratosis, Sparse eyelashes, Sparse hair, Dry skin,... |
OMIM:607626 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Sparse eyebrow, Alopecia, Failure to thrive, Sparse eyelashes, Hyperkeratosis, Dry skin |
OMIM:610768 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia |
|
Long eyelashes, Hirsutism, Thick eyebrow, Sparse hair, Low anterior hairline |
OMIM:616819 |
| Odontotrichoungual-Digital-Palmar Syndrome |
|
Abnormality of hair texture, Nail dystrophy, Nail dysplasia |
OMIM:601957 |
| Phenylketonuria |
|
Fair hair, Dry skin |
OMIM:261600 |
| Focal Facial Dermal Dysplasia Type Iii |
|
Sparse lateral eyebrow, Abnormal hair pattern, Highly arched eyebrow, Sparse lower eyelashes, Dis... |
ORPHA:1807 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Follicular hyperkeratosis, Dry skin |
OMIM:617066 |
| Hypohidrotic Ectodermal Dysplasia |
|
Aplasia/Hypoplasia of the eyebrow, Trichorrhexis nodosa, Generalized hypopigmentation of hair, Br... |
ORPHA:238468 |
| Trichothiodystrophy 8, Nonphotosensitive |
|
Trichorrhexis nodosa, Sparse eyebrow, Sparse hair, Woolly hair |
OMIM:619691 |
| Oligodontia-Colorectal Cancer Syndrome |
|
Sparse body hair, Sparse scalp hair, Sparse axillary hair, Absent eyebrow, Short eyelashes |
OMIM:608615 |
| Cortisone Reductase Deficiency 1 |
|
Alopecia, Hirsutism |
OMIM:604931 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Synophrys, Hirsutism, Dry skin, Abnormal hair whorl, Low posterior hairline, Nail dystrophy, Incr... |
OMIM:300860 |
| Galactosemia Iv |
|
Cataract |
OMIM:618881 |
| Rodrigues Blindness |
|
Sparse hair, Fine hair |
OMIM:268320 |
| Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Perifolliculitis, Chronic furunculosis, Acne inversa, Recurrent cutaneous abscess formation, Foll... |
OMIM:613736 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Small for gestational age, Dry skin, Onychauxis, Hypertrichosis |
OMIM:262190 |
| Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Pruritus |
OMIM:618531 |
| Hereditary Mucoepithelial Dysplasia |
|
Alopecia, Sparse hair, Fine hair |
ORPHA:1839 |
| Uv-Sensitive Syndrome 3 |
|
Dry skin |
OMIM:614640 |
| Prolidase Deficiency |
|
Skin ulcer, Abnormal fingernail morphology, White forelock, Hirsutism, Hyperkeratosis, Erythema, ... |
ORPHA:742 |
| Blepharocheilodontic Syndrome 1 |
|
High anterior hairline, Small nail, Nail dysplasia, Distichiasis, Sparse hair |
OMIM:119580 |
| Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Orthokeratosis, Parakeratosis, Scaling skin, Hyperkeratosis, Palmoplantar keratoderma, Dry skin |
OMIM:612281 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Dehydration |
ORPHA:28 |
| Thyrotropin-Releasing Hormone Deficiency |
|
Dry skin |
OMIM:275120 |
| Tooth Agenesis, Selective, 4 |
|
Sparse body hair, Dystrophic toenail, Sparse eyebrow, Sparse scalp hair, Palmar hyperkeratosis, S... |
OMIM:150400 |
| Growth Hormone Insensitivity Syndrome |
|
Fine hair, Abnormality of the nail |
ORPHA:181393 |
| Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Alopecia, Nail dysplasia, Sparse hair, Nail dystrophy |
OMIM:242300 |
| Cataract 9, Multiple Types |
|
Developmental cataract, Microcornea, Cataract, Iris coloboma, Progressive cataract |
OMIM:604219 |
| Trichothiodystrophy 1, Photosensitive |
|
Small nail, Tiger tail banding, Pili torti, Trichorrhexis nodosa, Brittle hair, Small for gestati... |
OMIM:601675 |
| Night Blindness, Congenital Stationary, Type 1C |
|
Dry skin |
OMIM:613216 |
| Onychotrichodysplasia And Neutropenia |
|
Curly hair, Trichorrhexis nodosa, Sparse pubic hair, Hypoplastic fingernail, Concave nail, Curly ... |
OMIM:258360 |
| Megalocornea |
|
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... |
OMIM:309300 |
| Acquired Hypertrichosis Lanuginosa |
|
Hypopigmentation of hair, Abnormal eyebrow morphology, Generalized hirsutism, Fine hair |
ORPHA:2221 |
| Peeling Skin Syndrome 1 |
|
Onycholysis, Nail dystrophy, Brittle hair |
OMIM:270300 |
| Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy |
|
Anterior cervical hypertrichosis |
OMIM:239840 |
| Sjögren-Larsson Syndrome |
|
Hyperkeratosis, Dry skin, Erythema |
ORPHA:816 |
| Progeroid Syndrome, Petty Type |
|
Brittle hair, Long eyelashes in irregular rows, Abnormality of the nail, Generalized hirsutism, A... |
ORPHA:2963 |
| Harlequin Ichthyosis |
|
Hyperkeratosis, Erythroderma, Dehydration |
ORPHA:457 |
| Sézary Syndrome |
|
Alopecia, Palmoplantar keratoderma, Dry skin, Nail dystrophy |
ORPHA:3162 |
| Localized Junctional Epidermolysis Bullosa |
|
Atrophic, patchy alopecia, Dystrophic toenail, Sparse axillary hair, Scarring alopecia of scalp, ... |
ORPHA:251393 |
| Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Alopecia, Brittle hair |
ORPHA:50812 |
| Enteric Anendocrinosis |
|
Dehydration |
ORPHA:83620 |
| Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
|
Sparse scalp hair, Fine hair |
ORPHA:2324 |
| Hypoalphalipoproteinemia, Primary, 2 |
|
Cataract, Corneal arcus |
OMIM:618463 |
| Pachyonychia Congenita 2 |
|
Dry hair, Sparse eyebrow, Sparse scalp hair, Nail dysplasia, Subungual hyperkeratosis, Nail dystr... |
OMIM:167210 |
| Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Alopecia |
OMIM:241090 |
| Bathing Suit Ichthyosis |
|
Alopecia, Palmoplantar hyperkeratosis, Palmoplantar scaling skin, Scaling skin, Parakeratosis, Sp... |
ORPHA:100976 |
| Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Anemia, Reticulocytosis |
OMIM:613977 |
| Adult Syndrome |
|
Alopecia, Toenail dysplasia, Sparse scalp hair, Fingernail dysplasia, Absent nipple, Skin ulcer, ... |
ORPHA:978 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Edema, Dehydration |
ORPHA:103910 |
| 19Q13.11 Microdeletion Syndrome |
|
Sparse lateral eyebrow, Cachexia, Supernumerary nipple, Fine hair, Failure to thrive, Nail dyspla... |
ORPHA:217346 |
| Craniosynostosis-Mental Retardation-Clefting Syndrome |
|
Dry skin |
OMIM:218650 |
| Spondyloepimetaphyseal Dysplasia With Hypotrichosis |
|
Sparse hair |
OMIM:183849 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Woolly hair |
OMIM:607450 |
| Leopard Syndrome 2 |
|
Curly hair, Dry skin |
OMIM:611554 |
| Dermatitis, Atopic |
|
Facial erythema, Dry skin, Pallor |
OMIM:603165 |
| Acrodermatitis Enteropathica |
|
Alopecia, Abnormal eyebrow morphology, Weight loss, Skin ulcer, Abnormality of the nail, Failure ... |
ORPHA:37 |
| Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation |
|
Alopecia |
OMIM:242510 |
| Uv-Sensitive Syndrome 1 |
|
Dry skin |
OMIM:600630 |
| Congenital Lethal Erythroderma |
|
Failure to thrive, Dry skin |
ORPHA:1954 |
| Familial Cold Urticaria |
|
Pruritus, Dehydration |
ORPHA:47045 |
| Rapp-Hodgkin Syndrome |
|
Sparse eyebrow, Small nail, Supernumerary nipple, Fine hair, Onychogryposis, Decreased number of ... |
OMIM:129400 |
| Reticular Dysgenesis |
|
Skin rash, Dehydration |
ORPHA:33355 |
| Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Alopecia, Orthokeratosis, Palmoplantar hyperkeratosis, Honeycomb palmoplantar hyperkeratosis, Ony... |
ORPHA:79395 |
| Androgen Insensitivity Syndrome |
|
Sparse axillary hair, Absent facial hair, Sparse pubic hair |
OMIM:300068 |
| Adiposis Dolorosa |
|
Sparse axillary hair, Obesity, Dry skin, Sparse pubic hair |
ORPHA:36397 |
| Netherton Syndrome |
|
Sparse eyebrow, Sparse scalp hair, Trichorrhexis nodosa, Fine hair, Abnormal hair morphology, Spa... |
ORPHA:634 |
| Naegeli-Franceschetti-Jadassohn Syndrome |
|
Dystrophic toenail, Malalignment of the great toenail, Palmoplantar hyperkeratosis, Decreased num... |
ORPHA:69087 |
| Microphthalmia, Isolated, With Coloboma 3 |
|
Iris coloboma, Cataract |
OMIM:610092 |
| Ifap Syndrome 2 |
|
Sparse hair, Nail dystrophy, Atrichia |
OMIM:619016 |
| Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
| Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies |
|
Sparse eyebrow, Sparse hair |
OMIM:619989 |
| Distal Trisomy 6P |
|
Abnormal hair quantity, Dry skin, Abnormal eyelash morphology, Fine hair |
ORPHA:1745 |
| Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Small nail, Hypoplastic nipples, Sparse hair |
OMIM:273400 |
| Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Alopecia, Sparse hair, Nail dystrophy |
OMIM:616353 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Increased body mass index, Dry skin, Increased body weight |
OMIM:614450 |
| Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Orthokeratotic hyperkeratosis, Hyperkeratosis, Pruritus |
OMIM:617571 |
| Olmsted Syndrome, X-Linked |
|
Palmoplantar hyperkeratosis, Alopecia totalis, Parakeratosis, Palmoplantar keratoderma, Subungual... |
OMIM:300918 |
| Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Sparse hair, Dry skin |
OMIM:268020 |
| Anterior Segment Dysgenesis 8 |
|
Iris transillumination defect, Persistent pupillary membrane, Hypoplasia of the iris, Uveal ectro... |
OMIM:617319 |
| Ataxia-Photosensitivity-Short Stature Syndrome |
|
Dry skin |
ORPHA:1184 |
| Ichthyosis, Hystrix-Like, With Deafness |
|
Sparse eyebrow, Sparse scalp hair, Absent eyelashes, Cobblestone-like hyperkeratosis, Scarring al... |
OMIM:602540 |
| Galactosemia Ii |
|
Cataract |
OMIM:230200 |
| Lymphatic Malformation 4 |
|
Pedal edema, Hyperkeratosis, Lymphedema |
OMIM:615907 |
| Filippi Syndrome |
|
Hypertrichosis, Frontal hirsutism, Sparse hair |
OMIM:272440 |
| Trichothiodystrophy 5, Nonphotosensitive |
|
Sparse eyebrow, Tiger tail banding, Brittle hair, Reduced hair sulfur content, Sparse hair, Slow-... |
OMIM:300953 |
| Diamond-Blackfan Anemia 3 |
|
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... |
ORPHA:251380 |
| Noonan Syndrome 5 |
|
Sparse eyebrow, Curly hair, Small nail, Large for gestational age, Fine hair, Dry skin |
OMIM:611553 |
| Anauxetic Dysplasia 2 |
|
Nail dysplasia, Small nail, Sparse hair |
OMIM:617396 |
| Cataract 11, Multiple Types |
|
Cataract, Developmental cataract |
OMIM:610623 |
| Lelis Syndrome |
|
Sparse lateral eyebrow, Yellow nails, Absent lower eyelashes, Abnormal toenail morphology, Sparse... |
ORPHA:140936 |
| Transient Neonatal Diabetes Mellitus |
|
Dehydration |
ORPHA:99886 |
| Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Nail dystrophy, Fragile nails, Leukonychia, Woolly hair |
OMIM:615821 |
| Combined Malonic And Methylmalonic Acidemia |
|
Dehydration |
ORPHA:289504 |
| Amyloidosis, Primary Localized Cutaneous, 1 |
|
Scaling skin, Dry skin |
OMIM:105250 |
| Alpha-Thalassemia |
|
Anemia, Hemolytic anemia, Hypersplenism, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:846 |
| Peeling Skin Syndrome 4 |
|
Orthokeratosis, Scaling skin, Palmoplantar keratoderma, Hyperkeratosis, Nail dystrophy |
OMIM:607936 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Dry skin, Follicular hyperkeratosis, Overweight |
ORPHA:486815 |
| Shukla-Vernon Syndrome |
|
Sparse hair |
OMIM:301029 |
| Bachmann-Bupp Syndrome |
|
Sparse scalp hair, Small nail, Large for gestational age, Absent eyebrow, Sparse eyelashes, Dry skin |
OMIM:619075 |
| Acrogeria |
|
Fine hair |
ORPHA:2500 |
| Hyperchlorhidrosis, Isolated |
|
Hypernatremic dehydration |
OMIM:143860 |
| Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Aplasia/Hypoplasia of the eyebrow, Sparse hair |
ORPHA:261304 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Sparse body hair, Alopecia, Sparse scalp hair, Absent eyelashes, Absent eyebrow |
ORPHA:69735 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Perianal erythema, Perioral erythema, Failure to thrive, Alopecia of scalp, Paronychia, Dry skin |
OMIM:201100 |
| Combined Oxidative Phosphorylation Deficiency 47 |
|
Dehydration |
OMIM:618958 |
| Jung Syndrome |
|
Dry skin, Low posterior hairline |
ORPHA:2321 |
| Exfoliation Syndrome |
|
Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ... |
OMIM:177650 |
| Radio-Tartaglia Syndrome |
|
High anterior hairline, Small nail, Striae distensae, Synophrys, Long eyebrows, Long eyelashes, O... |
OMIM:619312 |
| Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
| Methylmalonyl-Coa Epimerase Deficiency |
|
Dehydration |
OMIM:251120 |
| Menkes Disease |
|
Alopecia, Sparse hair, Brittle hair |
OMIM:309400 |
| Vulto-Van Silfhout-De Vries Syndrome |
|
Widow's peak, Horizontal eyebrow, Fine hair |
OMIM:615828 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Dehydration |
OMIM:620126 |
| Nicolaides-Baraitser Syndrome |
|
Alopecia, Long eyelashes, Abnormal hair pattern, Highly arched eyebrow, Curly eyelashes, Sparse hair |
ORPHA:3051 |
| Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Hyperkeratosis, Erythroderma |
OMIM:615024 |
| Giant Axonal Neuropathy |
|
Pili canaliculi, Woolly hair |
ORPHA:643 |
| Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Scaling skin, Hyperkeratosis, Dry skin, Erythema |
OMIM:614457 |
| Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Aniridia, Microcornea |
OMIM:106230 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Dehydration |
OMIM:620125 |
| Weaver Syndrome |
|
Hypoplastic toenails, Fine hair, Thin nail, Abnormal fingernail morphology, Deep-set nails |
ORPHA:3447 |
| Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
High anterior hairline, Long eyelashes, Fine hair |
ORPHA:231137 |
| Omenn Syndrome |
|
Alopecia, Aplasia/Hypoplasia of the eyebrow, Failure to thrive, Dry skin |
ORPHA:39041 |
| Squalene Synthase Deficiency |
|
Abnormality of hair pigmentation, Failure to thrive in infancy, Dry skin |
OMIM:618156 |
| Usher Syndrome Type 3 |
|
Iris hypopigmentation, Astigmatism, Cataract, Depression, Anxiety |
ORPHA:231183 |
| Cataract 10, Multiple Types |
|
Posterior Y-sutural cataract, Nuclear cataract, Zonular cataract, Developmental cataract |
OMIM:600881 |
| Riddle Syndrome |
|
Dry skin |
OMIM:611943 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Dehydration |
OMIM:602722 |
| Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Synophrys, Curly hair, Coarse hair |
OMIM:616351 |
| Craniofrontonasal Dysplasia |
|
Widow's peak, Ridged fingernail, Woolly hair, Low posterior hairline, Abnormality of hair texture |
ORPHA:1520 |
| Central Diabetes Insipidus |
|
Dehydration |
ORPHA:178029 |
| Alpha-Thalassemia |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
| Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
| Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Sparse body hair |
OMIM:300869 |
| Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Fine hair |
ORPHA:3236 |
| Iris Pigment Layer, Cleavage Of |
|
Cataract |
OMIM:147610 |
| Desbuquois Syndrome |
|
Sparse hair, Abnormal eyelash morphology |
ORPHA:1425 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Alopecia, Brittle hair, Nail dystrophy, Coarse hair |
ORPHA:75389 |
| Hawkinsinuria |
|
Sparse hair |
OMIM:140350 |
| Cranioectodermal Dysplasia |
|
Abnormal fingernail morphology, Sparse hair, Abnormal toenail morphology |
ORPHA:1515 |
| Cronkhite-Canada Syndrome |
|
Sparse body hair, Alopecia, Dystrophic toenail, Aplasia/Hypoplasia of the eyebrow, Hypoplastic to... |
ORPHA:2930 |
| Acrofacial Dysostosis, Palagonia Type |
|
Sparse lateral eyebrow, Pili torti, Thin eyebrow, Sparse eyelashes, Sparse hair, Low anterior hai... |
ORPHA:1787 |
| Hypercalcemia, Infantile, 1 |
|
Dehydration |
OMIM:143880 |
| Cardiofaciocutaneous Syndrome |
|
