| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Hypotrichosis 1 |
|
Sparse eyelashes, Sparse eyebrow, Sparse pubic hair, Sparse axillary hair, Sparse hair, Sparse bo... |
OMIM:605389 |
| Hypotrichosis 4 |
|
Sparse eyelashes, Alopecia, Pili torti, Sparse and thin eyebrow, Sparse hair, Sparse body hair |
OMIM:146550 |
| Hypotrichosis Simplex |
|
Sparse eyelashes, Sparse and thin eyebrow, Alopecia, Sparse scalp hair, Sparse hair, Sparse body ... |
ORPHA:55654 |
| Hypotrichosis 13 |
|
Sparse and thin eyebrow, Sparse hair, Woolly hair |
OMIM:615896 |
| Hypotrichosis 11 |
|
Alopecia, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Absent axil... |
OMIM:615059 |
| Hypotrichosis 10 |
|
Sparse eyelashes, Sparse eyebrow, Sparse body hair |
OMIM:614238 |
| Loose Anagen Hair Syndrome |
|
Loose anagen hair, Sparse hair, Fair hair |
OMIM:600628 |
| Hypotrichosis 7 |
|
Sparse and thin eyebrow, Sparse eyelashes, Sparse hair, Woolly hair |
OMIM:604379 |
| Hypotrichosis 9 |
|
Sparse scalp hair, Sparse body hair |
OMIM:614237 |
| Hypotrichosis 14 |
|
Sparse hair, Sparse body hair |
OMIM:618275 |
| Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Slow-growing hair, Sparse eyelashes, Blepharitis, Sparse body hair |
OMIM:618535 |
| Clouston Syndrome |
|
Fine hair, Sparse eyelashes, Small nail, Onycholysis, Absent pubic hair, Brittle hair, Nail dystr... |
OMIM:129500 |
| Flotch Syndrome |
|
Sparse eyelashes, Abnormal eyelid morphology, Inflammatory abnormality of the eye, Abnormality of... |
ORPHA:2045 |
| Alopecia, Congenital |
|
Alopecia, Sparse hair |
OMIM:300042 |
| Witkop Syndrome |
|
Fine hair, Small nail, Ridged nail, Concave nail, Sparse hair, Nail pits |
OMIM:189500 |
| Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Sparse and thin eyebrow, Alopecia, Hypoplastic toenails, Abnormal fingernail morphology, Sparse h... |
ORPHA:2722 |
| Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis |
|
Sparse hair |
OMIM:246500 |
| Atrichia With Papular Lesions |
|
Sparse hair |
OMIM:209500 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Brittle hair, Curly hair, Pili torti, Sparse and thin eyebrow, Sparse hair, Blepharitis |
OMIM:602400 |
| Ectodermal Dysplasia 9, Hair/Nail Type |
|
Absent hair, Nail dystrophy, Atrichia, Absent eyelashes, Nail dysplasia, Concave nail, Sparse hair |
OMIM:614931 |
| Woolly Hair, Autosomal Recessive 3 |
|
Fine hair, Sparse eyelashes, Trichorrhexis nodosa, Curly hair, Sparse scalp hair, Sparse hair |
OMIM:616760 |
| Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Sparse eyelashes, Folliculitis, Nail dystrophy, Alopecia, Scarring alopecia of scalp, Keratitis, ... |
OMIM:612843 |
| Ectodermal Dysplasia 6, Hair/Nail Type |
|
Thin toenail, Alopecia, Sparse hair, Dystrophic toenail |
OMIM:614928 |
| Olmsted Syndrome, X-Linked |
|
Posterior blepharitis, Alopecia totalis, Blepharitis, Subungual hyperkeratosis |
OMIM:300918 |
| Hypotrichosis 5 |
|
Sparse eyelashes, Thin eyebrow, Alopecia, Absent pubic hair, Absent axillary hair |
OMIM:612841 |
| Ichthyosis-Hypotrichosis Syndrome |
|
Sparse hair |
ORPHA:91132 |
| Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Sparse eyelashes, Folliculitis, Dystrophic fingernails, Ectropion, Scarring alopecia of scalp, Ke... |
OMIM:308800 |
| Ifap Syndrome 2 |
|
Keratoconjunctivitis sicca, Nail dystrophy, Atrichia, Angular cheilitis, Keratitis, Posterior ble... |
OMIM:619016 |
| Porokeratosis Plantaris Palmaris Et Disseminata |
|
Hyperkeratotic papule, Pruritus, Palmoplantar hyperkeratosis, Porokeratosis |
ORPHA:737 |
| Ichthyosis, Lamellar, Autosomal Dominant |
|
Pruritus, Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis |
OMIM:146750 |
| Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type |
|
Sparse eyelashes, Abnormal hair morphology, Nail dystrophy, Absent eyebrow, Sparse scalp hair, Sp... |
ORPHA:1808 |
| Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse axillary hair, Alopecia, Sparse scalp hair, Sparse pubic hair |
ORPHA:505 |
| Cerebellar Ataxia And Ectodermal Dysplasia |
|
Alopecia, Sparse hair |
OMIM:212835 |
| Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
|
Pili torti, Reduced terminal:vellus ratio, Sparse hair |
OMIM:601553 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
| Alopecia Universalis |
|
Alopecia universalis, Patchy alopecia, Absent eyebrow, Absent eyelashes |
ORPHA:701 |
| Trichodysplasia-Xeroderma Syndrome |
|
Brittle hair, Alopecia, Coarse hair, Sparse and thin eyebrow, Trichorrhexis nodosa, Pili torti, S... |
ORPHA:3361 |
| Alopecia-Epilepsy-Oligophrenia Syndrome Of Moynahan |
|
Alopecia, Sparse hair |
OMIM:203600 |
| Trichodysplasia-Xeroderma |
|
Sparse eyelashes, Dry hair, Brittle hair, Alopecia, Coarse hair, Sparse scalp hair, Sparse pubic ... |
OMIM:190360 |
| Porokeratosis Of Mibelli |
|
Pruritus, Porokeratosis, Hyperkeratosis |
ORPHA:735 |
| Ectodermal Dysplasia 4, Hair/Nail Type |
|
Onycholysis, Temporal hypotrichosis, Brittle hair, Alopecia, Absent eyebrow, Absent eyelashes, Na... |
OMIM:602032 |
| 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 |
| Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Infertility, Hypogonadotropic hypogonadism, Sparse pubic hair, Primary amenorrhea, Sparse axillar... |
OMIM:146110 |
| Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Recurrent cutaneous fungal infections, Palmoplantar keratoderma, Hyperkeratosis |
OMIM:244850 |
| Crandall Syndrome |
|
Fine hair, Brittle hair, Alopecia, Hypogonadism, Abnormal testis morphology, Pili torti, Aplasia/... |
ORPHA:202 |
| Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
| Alopecia Areata 2 |
|
Alopecia universalis, Patchy alopecia, Alopecia totalis, Alopecia of scalp |
OMIM:610753 |
| Hair Defect With Photosensitivity And Mental Retardation |
|
Sparse eyelashes, Brittle hair, Coarse hair, Sparse and thin eyebrow, Sparse hair |
OMIM:234030 |
| Hypotrichosis 8 |
|
Sparse eyelashes, Dry hair, Ridged nail, Sparse and thin eyebrow, Coarse hair, Sparse scalp hair,... |
OMIM:278150 |
| Hidrotic Ectodermal Dysplasia |
|
Fine hair, Slow-growing nails, Sparse eyelashes, Small nail, Absent pubic hair, Nail dystrophy, A... |
ORPHA:189 |
| Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss |
|
Alopecia of scalp, Dystrophic toenail, Alopecia, Onychogryposis of toenails, Sparse body hair |
OMIM:617294 |
| Palmoplantar Keratoderma And Woolly Hair |
|
Sparse eyelashes, Woolly scalp hair, Sparse and thin eyebrow, Woolly hair, Leukonychia, Sparse sc... |
OMIM:616099 |
| Hypotrichosis 12 |
|
Dry hair, Sparse or absent eyelashes, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Spars... |
OMIM:615885 |
| Tooth Agenesis, Selective, 8 |
|
Sparse hair, Sparse eyebrow |
OMIM:617073 |
| Osteopenia And Sparse Hair |
|
Sparse hair |
OMIM:259690 |
| Atopic Keratoconjunctivitis |
|
Keratoconjunctivitis sicca, Abnormal eyelid morphology, Keratitis, Chemosis, Loss of eyelashes, B... |
ORPHA:163934 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Sparse body hair, Sparse scalp hair, Periodontitis, Alopecia universalis, Abnormal eyelash morpho... |
ORPHA:1008 |
| Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Alopecia totalis, Hypergonadotropic hypogonadism |
ORPHA:1014 |
| Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Perifolliculitis, Alopecia, Alopecia of scalp |
OMIM:260910 |
| Monilethrix |
|
Fine hair, Brittle hair, Abnormal eyebrow morphology, Abnormality of the nail, Slow-growing hair,... |
ORPHA:573 |
| Angioma Serpiginosum, X-Linked |
|
Fine hair, Nail dystrophy, Sparse hair |
OMIM:300652 |
| Lichen Planus Pemphigoides |
|
Blepharitis, Abnormality of the nail, Conjunctivitis |
ORPHA:254478 |
| Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
| Ectodermal Dysplasia, Trichoodontoonychial Type |
|
Abnormal eyelash morphology, Abnormal toenail morphology, Aplasia/Hypoplasia of the eyebrow, Spar... |
ORPHA:1818 |
| Aquagenic Palmoplantar Keratoderma |
|
Atopic dermatitis, Orthokeratotic hyperkeratosis, Edema, Palmoplantar keratoderma, Palmar pruritus |
ORPHA:498359 |
| Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Hypergranulosis, Palmoplantar hyperkeratosis, Hyperkeratosis |
OMIM:617574 |
| Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
|
Atopic dermatitis, Sparse hair, Ptosis, Thick eyebrow, Widow's peak |
OMIM:606242 |
| Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death |
OMIM:611369 |
| Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse eyelashes, Sparse body hair, Nail dystrophy, Ankyloblepharon, Absent eyelashes, Lacrimal d... |
OMIM:106260 |
| Monilethrix |
|
Nail dystrophy, Brittle hair, Alopecia, Abnormality of hair texture, Nail dysplasia, Sparse hair |
OMIM:158000 |
| Woolly Hair |
|
Fine hair, Sparse lateral eyebrow, Brittle hair, Abnormality of hair texture, Woolly hair, Slow-g... |
ORPHA:170 |
| Oculotrichodysplasia |
|
Sparse eyelashes, Sparse lateral eyebrow, Sparse scalp hair, Sparse pubic hair, Generalized hypot... |
OMIM:257960 |
| Rothmund-Thomson Syndrome, Type 1 |
|
Thin nail, Nail dystrophy, Absent eyebrow, Absent eyelashes, Recurrent otitis media, Male hypogon... |
OMIM:618625 |
| Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
| Aredyld |
|
Generalized hypotrichosis |
OMIM:207780 |
| Leukonychia Totalis |
|
Adenoma sebaceum, Abnormal toenail morphology, Abnormal fingernail morphology, Blepharitis, Abnor... |
ORPHA:2387 |
| Hypotrichosis 6 |
|
Sparse eyelashes, Brittle hair, Pili torti, Sparse and thin eyebrow, Sparse hair |
OMIM:607903 |
| Cole Disease |
|
Hypergranulosis, Palmoplantar keratoderma, Hyperkeratosis |
OMIM:615522 |
| Hidrotic Ectodermal Dysplasia, Halal Type |
|
Abnormal fingernail morphology, Absent eyebrow, Absent eyelashes, Abnormal toenail morphology, Na... |
ORPHA:1809 |
| Alopecia Universalis Congenita |
|
Alopecia universalis, Alopecia |
OMIM:203655 |
| Ichthyosis Hystrix Of Curth-Macklin |
|
Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Ichthyosis, Hyperkeratosis |
ORPHA:79503 |
| Oliver-Mcfarlane Syndrome |
|
Hypogonadotropic hypogonadism, Alopecia, Long eyelashes, Cryptorchidism, Decreased response to gr... |
OMIM:275400 |
| Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Sparse hair, Woolly hair |
OMIM:278200 |
| Marie Unna Hereditary Hypotrichosis |
|
Alopecia, Coarse hair, Sparse or absent eyelashes, Sparse scalp hair, Aplasia/Hypoplasia of the e... |
ORPHA:444 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Fine hair, Ungual fibroma, Abnormal toenail morphology, Sparse or absent eyelashes, Abnormal fing... |
ORPHA:1433 |
| Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Palmoplantar hyperkeratosis, Hyperkeratosis |
OMIM:617756 |
| Poikiloderma With Neutropenia |
|
Recurrent otitis media, Recurrent pneumonia, Blepharitis, Recurrent sinusitis, Conjunctivitis |
OMIM:604173 |
| Gilbert Syndrome |
|
Dehydration, Jaundice |
OMIM:143500 |
| Focal Facial Dermal Dysplasia 3, Setleis Type |
|
Absent lower eyelashes, Low anterior hairline, Epicanthus, Distichiasis, Sparse hair |
OMIM:227260 |
| Palmoplantar Keratoderma, Nonepidermolytic, Focal 2 |
|
Palmoplantar keratoderma, Hyperkeratosis |
OMIM:616400 |
| Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema |
ORPHA:86923 |
| Palmoplantar Keratoderma, Punctate Type Iii |
|
Acrokeratosis, Hyperkeratosis |
OMIM:101850 |
| Dermatoleukodystrophy |
|
Thickened skin, Hyperkeratosis |
ORPHA:1659 |
| Sjogren-Larsson-Like Ichthyosis Without Cns Or Eye Involvement |
|
Congenital ichthyosiform erythroderma, Hyperkeratosis |
OMIM:270220 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Erythroderma, Pustule, Paronychia, Onychogryposis, Blepharitis |
OMIM:614328 |
| Hypotrichosis And Recurrent Skin Vesicles |
|
Sparse eyelashes, Sparse eyebrow, Sparse scalp hair, Angular cheilitis, Leukonychia, Sparse axill... |
OMIM:613102 |
| Acrodermatitis Enteropathica |
|
Pustule, Ridged nail, Cheilitis, Alopecia, Abnormal eyebrow morphology, Abnormal eyelid morpholog... |
ORPHA:37 |
| Acrokeratosis Verruciformis |
|
Acrokeratosis, Hyperkeratosis |
OMIM:101900 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair |
|
Sparse eyelashes, Epicanthus, Sparse eyebrow, Downslanted palpebral fissures, Hypoplastic toenail... |
OMIM:616901 |
| Palmoplantar Keratoderma-Deafness Syndrome |
|
Palmoplantar keratoderma, Hyperkeratosis |
ORPHA:2202 |
| Moynahan Syndrome |
|
Hypogonadism, Alopecia, Sparse hair |
ORPHA:2574 |
| Familial Reactive Perforating Collagenosis |
|
Hyperkeratotic papule, Inflammatory abnormality of the skin, Pruritus, Perifolliculitis, Maculopa... |
ORPHA:79147 |
| Epidermolysis Bullosa Simplex 1C, Localized |
|
Hyperkeratosis |
OMIM:131800 |
| Dowling-Degos Disease 2 |
|
Hyperkeratotic papule, Follicular hyperkeratosis |
OMIM:615327 |
| Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair |
|
Sparse hair |
OMIM:272980 |
| Bazex-Dupré-Christol Syndrome |
|
Sparse and thin eyebrow, Coarse hair, Trichorrhexis nodosa, Pili torti, Sparse or absent eyelashe... |
ORPHA:113 |
| Epidermolysis Bullosa Dystrophica, Pretibial |
|
Pruritus, Hyperkeratosis |
OMIM:131850 |
| Candidiasis, Familial, 8 |
|
Seborrheic dermatitis, Blepharitis |
OMIM:615527 |
| Lactase Deficiency, Congenital |
|
Dehydration, Decreased small intestinal mucosa lactase level |
OMIM:223000 |
| Syndromic X-Linked Intellectual Disability 7 |
|
Hypogonadism, Cryptorchidism, Sparse body hair |
ORPHA:85274 |
| Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Fine hair, Sparse eyelashes, Nail dysplasia, Slow-growing hair, Sparse and thin eyebrow, Sparse hair |
OMIM:129490 |
| Palmoplantar Keratoderma, Nagashima Type |
|
Hypergranulosis, Orthokeratotic hyperkeratosis |
OMIM:615598 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Edema, Dehydration, Pustule |
OMIM:616069 |
| Focal Facial Dermal Dysplasia Type I |
|
Low anterior hairline, Sparse lateral eyebrow, Absent eyelashes, Distichiasis, Sparse hair |
ORPHA:79133 |
| Verrucous Hemangioma |
|
Hyperkeratotic papule, Inflammatory abnormality of the skin |
ORPHA:464318 |
| Mental Retardation, Fra12A Type |
|
Hyperkeratosis |
OMIM:136630 |
| Trichodental Dysplasia |
|
Fine hair, Brittle hair, Sparse hair, Slow-growing hair |
OMIM:601453 |
| Diarrhea 2, With Microvillus Atrophy |
|
Death in infancy, Dehydration |
OMIM:251850 |
| Limb-Mammary Syndrome |
|
Psoriasiform dermatitis, Absent lacrimal punctum, Hypoplastic nipples, Alopecia, Sparse eyebrow, ... |
ORPHA:69085 |
| Congenital Panfollicular Nevus |
|
Hyperkeratosis |
ORPHA:139414 |
| Acquired Ichthyosis |
|
Pruritus, Palmoplantar keratoderma, Recurrent skin infections, Ichthyosis, Hyperkeratosis |
ORPHA:454 |
| Harlequin Ichthyosis |
|
Erythroderma, Ichthyosis, Hyperkeratosis, Dehydration, Congenital ichthyosiform erythroderma |
ORPHA:457 |
| Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Decreased liver function, Neonatal death, Dehydration |
OMIM:602199 |
| Sabinas Brittle Hair Syndrome |
|
Dry hair, Nail dystrophy, Brittle hair, Nail dysplasia, Sparse hair |
OMIM:211390 |
| Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Pruritus, Palmoplantar hyperkeratosis, Hyperkeratosis |
ORPHA:89838 |
| Ectrodactyly And Ectodermal Dysplasia Without Cleft Lip/Palate |
|
Sparse hair |
OMIM:129810 |
| Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
OMIM:144150 |
| Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
| Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
| Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
| Dermoodontodysplasia |
|
Ptosis, Fingernail dysplasia, Abnormal eyelid morphology, Sparse scalp hair, Trichodysplasia, Spa... |
ORPHA:1660 |
| Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Hyperkeratosis |
OMIM:615028 |
| Alopecia Antibody Deficiency |
|
Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Abnormal eyelash morphology |
ORPHA:1006 |
| Schopf-Schulz-Passarge Syndrome |
|
Small nail, Apocrine hidrocystoma, Onycholysis, Ridged nail, Thin nail, Narrow nail, Sparse hair,... |
OMIM:224750 |
| Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Nail dystrophy, Alopecia, Sparse hair |
OMIM:616353 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Pruritus, Plantar hyperkeratosis, Palmar hyperkeratosis, Hyperkeratosis |
ORPHA:79399 |
| Onychogryposis, Pedal, With Keratosis Plantaris And Coarse Hair |
|
Coarse hair, Dry hair, Onychogryposis of toenails, Sparse hair |
OMIM:164680 |
| Insulin-Resistance Syndrome Type A |
|
Hyperkeratosis |
ORPHA:2297 |
| Cholestasis-Lymphedema Syndrome |
|
Lymphedema, Hepatomegaly, Hyperlipidemia, Splenomegaly, Cirrhosis, Neonatal cholestatic liver dis... |
OMIM:214900 |
| Classic Mycosis Fungoides |
|
Hepatomegaly, Eczema, Pruritus, Edema, Splenomegaly, Skin rash, Hyperkeratosis |
ORPHA:2584 |
| Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Brittle hair, Alopecia, Sparse eyebrow, Nail dysplasia, Leukonychia, Sparse hair |
OMIM:104100 |
| Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Psoriasiform dermatitis, Blepharitis |
OMIM:616834 |
| Hyperkeratosis-Hyperpigmentation Syndrome |
|
Hyperkeratosis |
ORPHA:1336 |
| Cardiofaciocutaneous Syndrome 2 |
|
Fine hair, Ptosis, Absent eyebrow, Curly hair, Sparse hair |
OMIM:615278 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Death in infancy, Giant cell hepatitis, Cholestatic liver disease, Ichthyosis, Elevated hepatic t... |
OMIM:208085 |
| Anonychia With Flexural Pigmentation |
|
Follicular hyperkeratosis, Hyperkeratosis |
ORPHA:69125 |
| Peeling Skin Syndrome 5 |
|
Hyperkeratosis |
OMIM:617115 |
| Pseudopelade Of Brocq |
|
Abnormal hair morphology, Cheilitis, Alopecia, Recurrent skin infections, Abnormality of the nail... |
ORPHA:129 |
| Neonatal Inflammatory Skin And Bowel Disease |
|
Psoriasiform dermatitis, Chronic monilial nail infection, Pustule, Chapped lip, Horizontal eyebro... |
ORPHA:294023 |
| Kid Syndrome |
|
Trichilemmoma, Sparse eyelashes, Acne inversa, Sparse hair, Conjunctivitis, Folliculitis, Recurre... |
ORPHA:477 |
| Parana Hard Skin Syndrome |
|
Thickened skin, Hyperkeratosis |
ORPHA:2812 |
| Lamellar Ichthyosis |
|
Erythroderma, Pruritus, Ichthyosis, Hyperkeratosis, Dehydration |
ORPHA:313 |
| Erythrokeratoderma ''En Cocardes'' |
|
Hyperkeratosis |
ORPHA:315 |
| Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Orthokeratotic hyperkeratosis, Pruritus, Hyperkeratosis |
OMIM:617571 |
| Pili Torti-Onychodysplasia Syndrome |
|
Conjunctival hyperemia, Eczema, Nail dystrophy, Brittle hair, Alopecia, Absent eyebrow, Absent ey... |
ORPHA:2890 |
| Glycogen Storage Disease Vi |
|
Hepatomegaly, Hyperlipidemia, Increased hepatic glycogen content, Hypercholesterolemia, Hypertrig... |
OMIM:232700 |
| Alpha-Methylacetoacetic Aciduria |
|
Dehydration |
OMIM:203750 |
| Combined Oxidative Phosphorylation Deficiency 47 |
|
Elevated hepatic transaminase, Hepatomegaly, Dehydration |
OMIM:618958 |
| Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Fine hair, Cryptorchidism, Sparse hair |
ORPHA:1174 |
| Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities |
|
Absent lacrimal punctum, Upslanted palpebral fissure, Hypoplastic lacrimal duct, Cryptorchidism, ... |
OMIM:273390 |
| Xq27.3Q28 Duplication Syndrome |
|
Hypogonadism, Premature ovarian insufficiency, Cryptorchidism, Decreased testicular size, Sparse ... |
ORPHA:261483 |
| Heyn-Sproul-Jackson Syndrome |
|
Sparse hair, Epicanthus |
OMIM:618724 |
| Diarrhea 4, Malabsorptive, Congenital |
|
Dehydration |
OMIM:610370 |
| Chronic Hiccup |
|
Dehydration |
ORPHA:396 |
| Combined Malonic And Methylmalonic Acidemia |
|
Elevated hepatic transaminase, Dehydration |
ORPHA:289504 |
| Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:306000 |
| Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa, Foll... |
OMIM:613736 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Dehydration |
OMIM:601410 |
| Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Alopecia, Absent eyebrow, Absent eyelashes, Abnormality of the nail, Palpebral edema, Sparse hair... |
OMIM:607823 |
| Chilblain Lupus |
|
Inflammatory abnormality of the skin, Pruritis on hand, Discoid lupus rash, Malar rash, Skin rash... |
ORPHA:90280 |
| Trichoodontoonychial Dysplasia With Bone Deficiency |
|
Nail dystrophy, Nail dysplasia, Sparse hair, Supernumerary nipple |
OMIM:275450 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Keratoconjunctivitis sicca, Sparse eyelashes, Small nail, Brittle hair, Epicanthus, Trichorrhexis... |
OMIM:234050 |
| Combined Malonic And Methylmalonic Aciduria |
|
Dehydration |
OMIM:614265 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... |
ORPHA:52901 |
| Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Hypergranulosis, Palmoplantar keratoderma, Hyperkeratosis |
OMIM:617525 |
| Enteric Anendocrinosis |
|
Portal hypertension, Dehydration, Cholestatic liver disease |
ORPHA:83620 |
| Pseudoprogeria Syndrome |
|
Alopecia, Absent eyebrow, Absent eyelashes, Sparse and thin eyebrow, Sparse hair |
ORPHA:2985 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Onychogryposis of fingernail, Fingernail dysplasia, Alopecia, Ridged fingernail, Sparse hair |
ORPHA:2251 |
| Bazex Syndrome |
|
Acanthosis nigricans, Pruritus, Edema, Palmoplantar keratoderma, Parakeratosis, Hyperkeratosis |
ORPHA:166113 |
| Hypotrichosis-Intellectual Disability, Lopes Type |
|
Sparse hair |
ORPHA:2266 |
| Schöpf-Schulz-Passarge Syndrome |
|
Ovarian neoplasm, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Alopecia |
ORPHA:50944 |
| Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Upslanted palpebral fissure, Sparse hair, Alopecia, Short palpebral fissure |
OMIM:617763 |
| 17Q23.1Q23.2 Microdeletion Syndrome |
|
Highly arched eyebrow, Chronic otitis media, Long eyelashes, Epicanthus, Blepharitis |
ORPHA:261279 |
| Sea-Blue Histiocytosis |
|
Blepharitis |
ORPHA:158029 |
| Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Pruritus, Superficial dermal perivascular inflammatory infiltrate, Parakeratosis |
OMIM:618531 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Hepatomegaly, Dehydration |
ORPHA:28 |
| Focal Facial Dermal Dysplasia Type Iii |
|
Highly arched eyebrow, Sparse lateral eyebrow, Epicanthus, Abnormal hair pattern, Downslanted pal... |
ORPHA:1807 |
| Alopecia-Intellectual Disability Syndrome |
|
Alopecia, Hypergonadotropic hypogonadism, Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow, S... |
ORPHA:2850 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Absence of Stensen duct, Sparse eyelashes, Hypoplastic nipples, Sparse axillary hair, Nail dystro... |
OMIM:604292 |
| Bazex Syndrome |
|
Atopic dermatitis, Eczema, Coarse hair, Acne inversa, Trichorrhexis nodosa, Pili torti, Sparse ha... |
OMIM:301845 |
| Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Hyperkeratosis |
OMIM:618339 |
| Eec Syndrome |
|
Fine hair, Nail dystrophy, Coarse hair, Hypoplasia of the thymus, Keratitis, Thick eyebrow, Infla... |
ORPHA:1896 |
| Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Erythroderma, Ectropion, Nail dystrophy, Alopecia, Nail dysplasia, Sparse hair |
OMIM:242300 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dehydration |
ORPHA:79159 |
| Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Abnormal fingernail morphology, Eczema, Sparse hair, Sparse body hair |
ORPHA:1810 |
| Gand Syndrome |
|
Narrow palpebral fissure, Sparse hair, Blepharophimosis |
OMIM:615074 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Absence of Stensen duct, Sparse eyelashes, Hypoplastic nipples, Sparse axillary hair, Hypogonadot... |
OMIM:129900 |
| X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Aplasia/Hypoplasia of the eyebrow, Sparse hair, Sparse body hair, Anterior hypopituitarism |
ORPHA:181 |
| Coffin-Siris Syndrome 3 |
|
Hypertrichosis, Hirsutism, Long eyelashes, Thick eyebrow, Sparse scalp hair, Sparse hair |
OMIM:614608 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Erythroderma, Palmoplantar keratoderma, Ichthyosis, Hyperkeratosis, Congenital bullous ichthyosif... |
ORPHA:312 |
| Trichohepatoenteric Syndrome 2 |
|
Colitis, Brittle hair, Hepatitis, Trichorrhexis nodosa, Uncombable hair, Woolly hair, Sparse hair... |
OMIM:614602 |
| Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Hypertriglyceridemia, Elevated h... |
OMIM:614480 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Increased circulating corticosterone level, Dehydration, Increased circulating 18-hydroxycortison... |
OMIM:610600 |
| Björnstad Syndrome |
|
Hypogonadism, Brittle hair, Alopecia |
ORPHA:123 |
| Atrophoderma Vermiculata |
|
Hyperkeratotic papule, Pruritus, Follicular hyperkeratosis |
ORPHA:79100 |
| Pachyonychia Congenita 4 |
|
Palmoplantar keratoderma, Hyperkeratosis |
OMIM:615728 |
| Netherton Syndrome |
|
Eczema, Acanthosis nigricans, Erythroderma, Congenital nonbullous ichthyosiform erythroderma, Ski... |
ORPHA:634 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Azoospermia, Absent facial hair, Hypergonadotropic hypogonadism, Low posterior hairline, Sparse f... |
ORPHA:2183 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Pancreatic cysts, Neonatal death, Hepatic cysts, Splenomegaly, Oligohydramnios, Por... |
OMIM:263200 |
| Epidermolytic Palmoplantar Keratoderma |
|
Epidermal hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Palmar hyperkeratosis, Di... |
ORPHA:2199 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia |
|
Hirsutism, Low anterior hairline, Long eyelashes, Thick eyebrow, Upper eyelid edema, Sparse hair |
OMIM:616819 |
| Familial Cold Urticaria |
|
Pruritus, Dehydration |
ORPHA:47045 |
| Protoporphyria, Erythropoietic, 1 |
|
Eczema, Pruritus, Edema, Cholelithiasis, Hypertriglyceridemia, Hepatic failure |
OMIM:177000 |
| Hawkinsinuria |
|
Fine hair, Sparse hair |
ORPHA:2118 |
| Reticular Dysgenesis |
|
Dehydration, Skin rash |
ORPHA:33355 |
| Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Eczematoid dermatitis, Pruritis on breast, Pruritis on hand, Pruritis on abdomen, Pruritus, Parak... |
ORPHA:64745 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Atopic dermatitis, Pustule, Cholelithiasis, Glucocortocoid-insensitive primary hyperaldosteronism... |
ORPHA:171876 |
| Lessel-Kubisch Syndrome |
|
Hypogonadism, Sparse pubic hair, Premature graying of hair |
OMIM:618681 |
| Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Palmoplantar hyperkeratosis, Hyperkeratosis |
OMIM:617526 |
| Xeroderma Pigmentosum |
|
Ectropion, Ankyloblepharon, Alopecia, Conjunctival telangiectasia, Keratitis, Hypogonadism, Bleph... |
ORPHA:910 |
| Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Small nail, Hypoplastic nipples, Nasolacrimal duct obstruction, Hypogonadism, Sparse hair |
OMIM:273400 |
| Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Erythroderma, Hypergranulosis |
OMIM:133200 |
| Pityriasis Rubra Pilaris |
|
Eczema, Erythroderma, Pustule, Subungual hyperkeratosis, Pruritus, Thickened skin, Palmoplantar k... |
ORPHA:2897 |
| Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Palmoplantar keratoderma, Generalized ichthyosis, Parakeratosis, Hypergranulosis, Congenital nonb... |
ORPHA:79395 |
| Blepharocheilodontic Syndrome 1 |
|
Small nail, Distichiasis, High anterior hairline, Ectropion of lower eyelids, Sparse hair |
OMIM:119580 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Microvesicular hepatic steatosis, Death in infancy, Ascites, Cirrhosis, Cholestasis, Hepatic fail... |
OMIM:617156 |
| Moebius Syndrome |
|
Ptosis, Hypogonadotropic hypogonadism, Epicanthus, Breast aplasia, Blepharitis |
ORPHA:570 |
| Autosomal Agammaglobulinemia |
|
Hepatitis, Dehydration, Skin rash, Recurrent skin infections |
ORPHA:33110 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Eczema, Abnormal hair morphology, Thin eyebrow, Hyperconvex fingernails, Uveitis, Sparse hair, Ab... |
ORPHA:2273 |
| Ichthyosis With Confetti |
|
Erythroderma, Palmoplantar hyperkeratosis, Hyperkeratosis |
OMIM:609165 |
| Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type |
|
Sparse eyelashes, Nail dystrophy, Absent eyebrow, Sparse scalp hair, Sparse pubic hair, Onychogry... |
OMIM:601375 |
| Dyskeratosis Congenita |
|
White hair, Nail dystrophy, Alopecia, Neoplasm of the pancreas, Abnormal eyebrow morphology, Peri... |
ORPHA:1775 |
| Olmsted Syndrome 2 |
|
Pruritus, Palmoplantar keratoderma, Parakeratosis, Perioral hyperkeratosis, Hyperkeratosis, Palmo... |
OMIM:619208 |
| Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Anonychia, Nail dystrophy, Scarring alopecia of scalp, Sparse body hair |
ORPHA:79402 |
| Juvenile Xanthogranuloma |
|
Uveitis, Blepharitis, Iritis |
ORPHA:158000 |
| Hyperchlorhidrosis, Isolated |
|
Hypernatremic dehydration, Dehydration |
OMIM:143860 |
| Nicolaides-Baraitser Syndrome |
|
Highly arched eyebrow, Eczema, Curly eyelashes, Alopecia, Abnormal hair pattern, Long eyelashes, ... |
ORPHA:3051 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Elevated hepatic transaminase, Eczema, Ichthyosis, Hyperkeratosis |
OMIM:612379 |
| Psoriasis 2 |
|
Hyperkeratosis, Psoriasiform dermatitis, Parakeratosis |
OMIM:602723 |
| Eem Syndrome |
|
Sparse scalp hair, Absent eyebrow, Sparse body hair |
ORPHA:1897 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Predominantly dermal neutrophilic infiltrate, Pustule, Superficial dermal perivascular inflammato... |
ORPHA:284426 |
| Lysosomal Acid Lipase Deficiency |
|
Microvesicular hepatic steatosis, Hepatic fibrosis, Ascites, Pruritus, Fatal liver failure in inf... |
ORPHA:275761 |
| Ichthyosis Prematurity Syndrome |
|
Erythroderma, Pruritus, Polyhydramnios, Follicular hyperkeratosis, Generalized ichthyosis |
OMIM:608649 |
| Oligodontia-Colorectal Cancer Syndrome |
|
Absent eyebrow, Sparse scalp hair, Sparse axillary hair, Sparse body hair, Short eyelashes |
OMIM:608615 |
| Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Alopecia, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
| Androgen Insensitivity Syndrome |
|
Elevated circulating follicle stimulating hormone level, Sparse pubic hair, Absent facial hair, P... |
OMIM:300068 |
| Filippi Syndrome |
|
Frontal hirsutism, Cryptorchidism, Sparse hair, Hypertrichosis |
OMIM:272440 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Dehydration, Pancreatitis, Splenomegaly |
ORPHA:79312 |
| Transient Neonatal Diabetes Mellitus |
|
Dehydration |
ORPHA:99886 |
| Brachymetapody-Anodontia-Hypotrichosis-Albinoidism |
|
Fine hair, Sparse eyelashes, Hypoplastic nipples, Downslanted palpebral fissures, Distichiasis, A... |
OMIM:211370 |
| Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Sclerodactyly, Palmoplantar hyperkeratosis, Hyperkeratosis |
OMIM:212360 |
| Early-Onset Familial Hypoaldosteronism |
|
Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Dehydration |
ORPHA:556030 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death |
OMIM:273680 |
| Rosselli-Gulienetti Syndrome |
|
Progressive hypotrichosis, Sparse and thin eyebrow, Sparse eyelashes, Nail dysplasia |
OMIM:225000 |
| Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Sparse eyelashes, Sparse and thin eyebrow, Scarring alopecia of scalp, Sparse scalp hair, Sparse ... |
ORPHA:59303 |
| Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma |
|
Linear arrays of macular hyperkeratoses in flexural areas, Parakeratosis, Congenital nonbullous i... |
OMIM:601952 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased liver function, Hepatic steatosis, Hypercholesterolemia, Elevated circulating alkaline ... |
OMIM:616829 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Progressive hypotrichosis, Sparse eyelashes, Brittle hair, Abnormality of hair texture, Nail dysp... |
OMIM:225060 |
| Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Pruritus, Hyperkeratosis |
ORPHA:89843 |
| Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Alopecia universalis, Sparse hair |
OMIM:614594 |
| Hypotrichosis Simplex Of The Scalp |
|
Hyperkeratosis, Pruritus, Atopic dermatitis, Parakeratosis |
ORPHA:90368 |
| Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Pruritus, Palmoplantar keratoderma, Parakeratosis, Ichthyosis, Hyperkeratosis |
OMIM:615821 |
| Onychotrichodysplasia And Neutropenia |
|
Curly eyelashes, Trichorrhexis nodosa, Sparse pubic hair, Chronic irritative conjunctivitis, Curl... |
OMIM:258360 |
| Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Erythroderma, Palmoplantar keratoderma, Generalized ichthyosis, Parakeratosis, Congenital nonbull... |
OMIM:612281 |
| Mental Retardation, Autosomal Recessive 5 |
|
Eczema, Telecanthus, Thick eyebrow, Sparse hair, Blepharophimosis, Synophrys |
OMIM:611091 |
| Neonatal Lupus Erythematosus |
|
Hepatomegaly, Splenomegaly, Abnormality of the liver, Parakeratosis, Malar rash, Maculopapular ex... |
ORPHA:398124 |
| Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Dehydration, Hyperaldosteronism |
OMIM:264350 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Pruritus, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Elevated hep... |
ORPHA:79301 |
| Hepatoerythropoietic Porphyria |
|
Seborrhoeic blepharitis, Ectropion, Facial hypertrichosis, Scarring alopecia of scalp, Recurrent ... |
ORPHA:95159 |
| Dyskeratosis Congenita, X-Linked |
|
Sparse eyelashes, Split nail, Ridged nail, Nail dystrophy, Alopecia, Pterygium of nails, Blephari... |
OMIM:305000 |
| Hyperkeratosis Lenticularis Perstans |
|
Pruritus, Hyperkeratosis lenticularis perstans |
ORPHA:409 |
| Ichthyosis, Hystrix-Like, With Deafness |
|
Palmoplantar keratoderma, Erythroderma, Ichthyosis, Hyperkeratosis |
OMIM:602540 |
| Frontonasal Dysplasia 2 |
|
Sparse eyelashes, Upslanted palpebral fissure, Alopecia, Short palpebral fissure, Sparse and thin... |
OMIM:613451 |
| Propionic Acidemia |
|
Hepatomegaly, Eczema, Propionyl-CoA carboxylase deficiency, Pancreatitis, Dehydration |
OMIM:606054 |
| Progeroid Syndrome, Petty Type |
|
Long eyelashes in irregular rows, Abnormal hair morphology, Brittle hair, Epicanthus, Thick eyebr... |
ORPHA:2963 |
| Familial Renal Glucosuria |
|
Dehydration |
ORPHA:69076 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Testicular microlithiasis, Secondary amenorrhea, Abnormality of the Leydig cells, Oligomenorrhea,... |
OMIM:228300 |
| Meige Disease |
|
Predominantly lower limb lymphedema, Edema of the dorsum of hands, Facial edema, Recurrent bacter... |
ORPHA:90186 |
| Lichen Planopilaris |
|
Pruritus, Hepatitis, Hyperkeratosis |
ORPHA:525 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Dehydration, Pancreatitis |
ORPHA:27 |
| Cholestasis, Intrahepatic, Of Pregnancy, 1 |
|
Pruritus, Abnormal liver function tests during pregnancy, Elevated hepatic transaminase, Intrahep... |
OMIM:147480 |
| Congenital Short Bowel Syndrome |
|
Sparse hair |
ORPHA:2301 |
| Peeling Skin Syndrome 6 |
|
Pruritus, Orthokeratosis, Parakeratosis |
OMIM:618084 |
| Lymphatic Malformation 4 |
|
Lymphedema, Hyperkeratosis |
OMIM:615907 |
| Bjornstad Syndrome |
|
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Dr... |
OMIM:262000 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Dehydration, Hyperaldosteronism |
OMIM:177735 |
| Fanconi Anemia, Complementation Group S |
|
Ovarian neoplasm, Low anterior hairline, Upslanted palpebral fissure, Epicanthus, Long eyelashes,... |
OMIM:617883 |
| Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Hypergranulosis, Orthokeratosis, Ichthyosis, Hyperkeratosis, Congenital ichthyosiform erythroderma |
OMIM:613943 |
| Osteootohepatoenteric Syndrome |
|
Microvesicular hepatic steatosis, Portal fibrosis, Hepatic fibrosis, Pruritus, Cholestasis, Prolo... |
OMIM:619377 |
| Tooth Agenesis, Selective, 4 |
|
Sparse hair, Sparse eyebrow, Short eyelashes |
OMIM:150400 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Alopecia, Absent eyebrow, Absent eyelashes, Palpebral edema, Sparse scalp hair, Sparse body hair,... |
ORPHA:69735 |
| White Sponge Nevus 2 |
|
Edema, Hyperparakeratosis |
OMIM:615785 |
| Wolcott-Rallison Syndrome |
|
Hepatomegaly, Ascites, Abnormality of the liver, Acute hepatic failure, Elevated hepatic transami... |
ORPHA:1667 |
| Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Psoriasiform dermatitis, Pericardial effusion, Thickened skin, Splenomegaly, Skin r... |
ORPHA:92 |
| Erythrokeratodermia Variabilis |
|
Patchy palmoplantar hyperkeratosis, Skin rash, Hyperkeratosis |
ORPHA:317 |
| Tricho-Retino-Dento-Digital Syndrome |
|
Sparse hair, Uncombable hair |
ORPHA:1264 |
| Progeroid Facial Appearance With Hand Anomalies |
|
Upslanted palpebral fissure, Sparse hair, Blepharophimosis |
OMIM:602249 |
| Wiskott-Aldrich Syndrome |
|
Sinusitis, Eczema, Inflammation of the large intestine, Chronic otitis media, Abnormality of the ... |
ORPHA:906 |
| Ectodermal Dysplasia, Trichoodontoonychial Type |
|
Absent nipple, Sparse hair |
OMIM:129510 |
| Noonan Syndrome 6 |
|
Bilateral ptosis, Epicanthus, Downslanted palpebral fissures, Curly hair, Low posterior hairline,... |
OMIM:613224 |
| Netherton Syndrome |
|
Erythroderma, Angioedema, Hypernatremic dehydration, Parakeratosis, Congenital nonbullous ichthyo... |
OMIM:256500 |
| Lelis Syndrome |
|
Absent lower eyelashes, Yellow nails, Nail dystrophy, Sparse lateral eyebrow, Upslanted palpebral... |
ORPHA:140936 |
| Bathing Suit Ichthyosis |
|
Erythroderma, Ectropion, Nail dystrophy, Alopecia, Sparse hair |
ORPHA:100976 |
| Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Sparse eyelashes, Hypoplastic nipples, Rhinitis, Sparse lateral eyebrow, Sparse scalp hair, Absen... |
OMIM:614941 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Death in infancy, Peau d'orange, Elevated gamma-glutamyltransferase level, Cirrhosi... |
OMIM:614576 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Hepatomegaly, Ascites, Micronodular cirrhosis, Decreased liver function, Hepatic steatosis, Eleva... |
OMIM:301045 |
| Vohwinkel Syndrome, Variant Form |
|
Hyperkeratosis, Orthokeratosis, Hypergranulosis, Parakeratosis |
OMIM:604117 |
| Mednik Syndrome |
|
Intrahepatic cholestasis, Ichthyosis, Hyperkeratosis |
ORPHA:171851 |
| Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Sparse hair, Dystrophic fingernails |
OMIM:604536 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Psoriasiform dermatitis, Erythroderma, Acantholysis, Palmoplantar keratoderma, Hypergranulosis, O... |
OMIM:615508 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Highly arched eyebrow, Amenorrhea, Ptosis, Telecanthus, Sparse pubic hair, Increased circulating ... |
OMIM:110100 |
| Trichothiodystrophy 7, Nonphotosensitive |
|
Follicular hyperkeratosis, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma |
OMIM:618546 |
| Odontoonychodermal Dysplasia |
|
Fine hair, Dry hair, Dystrophic fingernails, Dystrophic toenail, Sparse body hair, Sparse scalp h... |
OMIM:257980 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Lymphedema, Hepatomegaly, Hyperkeratosis |
ORPHA:79279 |
| Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Erythroderma, Palmoplantar keratoderma, Parakeratosis, Congenital nonbullous ichthyosiform erythr... |
OMIM:604777 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Recurrent aspiration pneumonia, Upslanted palpebral fissure, Epicanthus, Hypoplastic fingernail, ... |
ORPHA:280633 |
| Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Upslanted palpebral fissure, Narrow palpebral fissure, Sparse hair, Hirsutism |
OMIM:618087 |
| Shukla-Vernon Syndrome |
|
Sparse hair, Downslanted palpebral fissures |
OMIM:301029 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Sparse hair |
OMIM:610756 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hepatomegaly, Dehydration, Pancreatitis |
OMIM:251000 |
| Milroy Disease |
|
Lymphedema, Hyperkeratosis, Pedal edema, Erysipelas, Predominantly lower limb lymphedema |
ORPHA:79452 |
| Mcdonough Syndrome |
|
Ptosis, Upslanted palpebral fissure, Hypoplastic toenails, Cryptorchidism, Sparse hair, Synophrys |
OMIM:248950 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Edema, Dehydration |
ORPHA:103910 |
| Tetrasomy 12P |
|
Ptosis, Upslanted palpebral fissure, Telecanthus, Sparse and thin eyebrow, Sparse hair |
ORPHA:884 |
| Central Diabetes Insipidus |
|
Dehydration |
ORPHA:178029 |
| Noonan Syndrome 8 |
|
Eczema, Webbed neck, Polyhydramnios, Hyperkeratosis, Pleural effusion |
OMIM:615355 |
| Chromomycosis |
|
Hyperkeratotic papule, Lymphedema, Pruritus, Edema, Hyperparakeratosis, Hyperkeratosis, Predomina... |
ORPHA:182 |
| Johnson Neuroectodermal Syndrome |
|
Alopecia, Absent eyebrow, Absent eyelashes, Downslanted palpebral fissures, Hypogonadism, Sparse ... |
ORPHA:2316 |
| Cerebellofaciodental Syndrome |
|
Fine hair, Sparse and thin eyebrow, Sparse hair |
OMIM:616202 |
| Infantile Digital Fibromatosis |
|
Hyperkeratosis, Parakeratosis |
ORPHA:199267 |
| Keratoderma Hereditarium Mutilans |
|
Ichthyosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis |
ORPHA:494 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Sparse eyelashes, Alopecia, Absent eyebrow, Absent eyelashes, Epicanthus, Palpebral edema, Membra... |
OMIM:137940 |
| Acrofacial Dysostosis, Palagonia Type |
|
Sparse eyelashes, Thin eyebrow, Low anterior hairline, Sparse lateral eyebrow, Abnormal eyelid mo... |
ORPHA:1787 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Sparse hair |
OMIM:613576 |
| Secondary Short Bowel Syndrome |
|
Steatorrhea, Cholestasis, Dehydration |
ORPHA:95427 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Pruritus, Elevated gamma-glutamyltransfe... |
OMIM:619662 |
| Androgen Insensitivity Syndrome |
|
Sparse axillary hair, Sparse pubic hair, Male infertility, Absent pubic hair, Cryptorchidism, Abs... |
ORPHA:754 |
| Ulerythema Ophryogenesis |
|
Hyperkeratotic papule, Follicular hyperkeratosis, Acne, Contact dermatitis |
ORPHA:3406 |
| Irida Syndrome |
|
Intrahepatic cholestasis, Ichthyosis, Hyperkeratosis |
ORPHA:209981 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Hepatomegaly, Dehydration |
OMIM:560000 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Brittle hair, Coarse hair, Sparse hair |
ORPHA:1883 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Dehydration, Hyperaldosteronism, Polyhydramnios |
OMIM:214700 |
| Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Streaks of hyperkeratosis along each fin... |
OMIM:148700 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Cholangitis, Sparse eyelashes, Alopecia, Thick hair, Sparse hair |
OMIM:607626 |
| Superficial Epidermolytic Ichthyosis |
|
Acantholysis, Edema, Palmoplantar keratoderma, Thin skin, Ichthyosis |
ORPHA:455 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Chronic sinusitis, Recurrent otitis media, Recurrent pneumonia, Conjunctivitis |
OMIM:612692 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Dehydration |
OMIM:602722 |
| Congenital Tufting Enteropathy |
|
Dehydration, Steatorrhea, Cholestatic liver disease |
ORPHA:92050 |
| Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Increased circulating gonadotropin level, Hypogonadism, Cryptorchidism, Decreased testicular size... |
OMIM:300869 |
| Porokeratosis |
|
Pruritus, Hyperkeratosis |
ORPHA:79358 |
| Isovaleric Acidemia |
|
Dehydration |
OMIM:243500 |
| Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Palmoplantar keratoderma, Parakeratosis, Hypergranulosis, Orthokeratosis |
OMIM:173200 |
| Rhizomelic Chondrodysplasia Punctata |
|
Alopecia, Epicanthus, Sparse body hair |
ORPHA:177 |
| Chromosome 5P13 Duplication Syndrome |
|
Upslanted palpebral fissure, Epicanthus, Short palpebral fissure, Low posterior hairline, Sparse ... |
OMIM:613174 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Sparse hair, Epicanthus, Downslanted palpebral fissures, Ptosis |
OMIM:616449 |
| Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Absent nipple, Sparse hair, Absent hair |
OMIM:614940 |
| Hypercalcemia, Infantile, 1 |
|
Dehydration |
OMIM:143880 |
| Flynn-Aird Syndrome |
|
Hyperkeratosis |
OMIM:136300 |
| Proteus Syndrome |
|
Hyperkeratosis, Splenomegaly |
OMIM:176920 |
| Localized Junctional Epidermolysis Bullosa |
|
Atrophic, patchy alopecia, Dystrophic fingernails, Dystrophic toenail, Nail dystrophy, Scarring a... |
ORPHA:251393 |
| Singleton-Merten Syndrome 2 |
|
Hyperkeratosis |
OMIM:616298 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Acholic stools, Hepatocellular carcinoma, Pruritus, Cholelithiasis, Pancreatitis, Cholestatic liv... |
ORPHA:65682 |
| Recessive X-Linked Ichthyosis |
|
Ichthyosis, Hyperkeratosis |
ORPHA:461 |
| Microvillus Inclusion Disease |
|
Pruritus, Dehydration |
ORPHA:2290 |
| Rapp-Hodgkin Syndrome |
|
Fine hair, Small nail, Absent lacrimal punctum, Ptosis, Recurrent otitis media, Decreased number ... |
OMIM:129400 |
| Johnson Neuroectodermal Syndrome |
|
Hypogonadotropic hypogonadism, Alopecia, Absent eyebrow, Absent eyelashes, Sparse hair, Decreased... |
OMIM:147770 |
| Congenital Erythropoietic Porphyria |
|
Seborrhoeic blepharitis, Ectropion, Facial hypertrichosis, Scarring alopecia of scalp, Recurrent ... |
ORPHA:79277 |
| Adrenal Hypoplasia, Congenital |
|
Dehydration, Decreased circulating cortisol level |
OMIM:300200 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Highly arched eyebrow, Dystrophic fingernails, Dystrophic toenail, Sparse lateral eyebrow, Nail d... |
ORPHA:3253 |
| Cranioectodermal Dysplasia |
|
Abnormal toenail morphology, Abnormal fingernail morphology, Sparse hair, Epicanthus |
ORPHA:1515 |
| Cystinosis |
|
Portal hypertension, Dehydration |
ORPHA:213 |
| Trichothiodystrophy 1, Photosensitive |
|
Fine hair, Keratoconjunctivitis sicca, Tiger tail banding, Small nail, Erythroderma, Brittle hair... |
OMIM:601675 |
| Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Pruritus, Splenomegaly, Cirrhosis, Cholestasis, Elevated hepatic transaminase, Bili... |
OMIM:617394 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Portal fibrosis, Bile duct proliferation, Pruritus, Splenomegaly, Cirrhosis, Elevat... |
OMIM:602347 |
| Macs Syndrome |
|
Bronchiectasis, Alopecia, Downslanted palpebral fissures, Palpebral edema, Hypergonadotropic hypo... |
OMIM:613075 |
| Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Polycystic ovaries, Secondary amenorrhea, Sparse hair, Hypergonadotropic hypogonadism |
OMIM:268020 |
| Lacrimal Duct Defect |
|
Sinusitis, Dacryocystocele, Dacryocystitis, Lacrimal duct atresia, Conjunctivitis |
OMIM:149700 |
| Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Arthritis, Conjunctivitis |
OMIM:617772 |
| Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Palmoplantar keratoderma, Hypergranulosis, Congenital nonbullous ichthyosiform erythroderma, Hype... |
OMIM:242100 |
| Cardiocranial Syndrome, Pfeiffer Type |
|
Cryptorchidism, Sparse hair, Downslanted palpebral fissures, Abnormal hair whorl |
ORPHA:2872 |
| Cornelia De Lange Syndrome |
|
Highly arched eyebrow, Hypoplastic nipples, Low anterior hairline, Ptosis, Curly eyelashes, Long ... |
ORPHA:199 |
| Vulvovaginal Gingival Syndrome |
|
Pruritus, Parakeratosis |
ORPHA:83453 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Acholic stools, Hepatitis, Splenomegaly, Cirrhosis, Steatorrhea, Elevated circulati... |
OMIM:613812 |
| Ichthyosis, Congenital, Autosomal Recessive 3 |
|
Congenital nonbullous ichthyosiform erythroderma, Palmoplantar keratoderma, Hyperkeratosis |
OMIM:606545 |
| Methylmalonyl-Coa Epimerase Deficiency |
|
Dehydration |
OMIM:251120 |
| Cronkhite-Canada Syndrome |
|
Dystrophic fingernails, Patchy alopecia, Dystrophic toenail, Alopecia, Hypoplastic toenails, Abno... |
ORPHA:2930 |
| Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Ectropion, Synophrys, Recurrent otitis media, Downslanted palpebral fissures, Long palpebral fiss... |
OMIM:602562 |
| Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Seborrheic dermatitis, Hyperkeratosis |
OMIM:610227 |
| Prolidase Deficiency |
|
Hepatomegaly, Pruritus, Palmoplantar keratoderma, Thin skin, Splenomegaly, Hyperkeratosis, Crusti... |
ORPHA:742 |
| 2Q32Q33 Microdeletion Syndrome |
|
Fine hair, Sparse hair, Decreased testicular size, Downslanted palpebral fissures |
ORPHA:251019 |
| Peeling Skin Syndrome 4 |
|
Orthokeratosis, Palmoplantar keratoderma, Ichthyosis, Hyperkeratosis |
OMIM:607936 |
| Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Aplasia/Hypoplasia of the eyebrow, Sparse hair |
ORPHA:261304 |
| Psoriasis 14, Pustular |
|
Cholangitis, Pustule, Psoriasiform dermatitis, Parakeratosis |
OMIM:614204 |
| Anauxetic Dysplasia 2 |
|
Nail dysplasia, Small nail, Sparse hair |
OMIM:617396 |
| Sjögren-Larsson Syndrome |
|
Ichthyosis, Hyperkeratosis |
ORPHA:816 |
| Ectodermal Dysplasia/Short Stature Syndrome |
|
Hyperkeratosis |
OMIM:616029 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Nonimmune hydrops fetalis, Ascites, Neonatal death, Polyhydramnios, Splenomegaly, H... |
OMIM:608013 |
| Juvenile Temporal Arteritis |
|
Allergic rhinitis, Conjunctivitis |
ORPHA:26137 |
| Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Orthokeratosis, Acne inversa, Hyperkeratosis |
OMIM:617337 |
| Lipoid Proteinosis |
|
Acne, Pustule, Thickened skin, Hyperkeratosis |
ORPHA:530 |
| Hereditary Mucoepithelial Dysplasia |
|
Fine hair, Alopecia, Sparse hair |
ORPHA:1839 |
| Methylmalonic Aciduria, Cblb Type |
|
Decreased methylmalonyl-CoA mutase activity, Hepatomegaly, Dehydration |
OMIM:251110 |
| Nablus Mask-Like Facial Syndrome |
|
Highly arched eyebrow, Sparse eyelashes, Hypoplastic nipples, Low anterior hairline, Short palpeb... |
OMIM:608156 |
| Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Narrow palpebral fissure, Thin eyebrow, Upslanted palpebral fissure, Low posterior hairline, Spar... |
OMIM:619320 |
| Isolated Congenital Alacrima |
|
Ptosis, Lacrimal punctal atresia, Keratitis, Distichiasis, Lacrimal gland hypoplasia, Conjunctivitis |
ORPHA:91416 |
| Dowling-Degos Disease |
|
Hyperkeratotic papule, Pruritus, Acne inversa, Hyperkeratosis |
ORPHA:79145 |
| Vipoma |
|
Hepatomegaly, Ascites, Increased circulating cortisol level, Neoplasm of the pancreas, Neoplasm o... |
ORPHA:97282 |
| Acrokeratosis Verruciformis Of Hopf |
|
Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis |
ORPHA:79151 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Dehydration |
OMIM:203400 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Hepatomegaly, Lipid accumulation in hepatocytes, Edema, Acute pancreatitis, Elevated hepatic tran... |
ORPHA:20 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Infertility, Alopecia of scalp, Streak ovary, Hypergonadotropic hypogonadism, Alopecia, Abnormal ... |
ORPHA:2232 |
| Desbuquois Syndrome |
|
Sparse hair, Abnormal eyelash morphology |
ORPHA:1425 |
| Methylmalonic Aciduria, Cbla Type |
|
Decreased methylmalonyl-CoA mutase activity, Hepatomegaly, Dehydration |
OMIM:251100 |
| Papillon-Lefèvre Syndrome |
|
Hypertrichosis, Pustule, Chronic furunculosis, Recurrent cutaneous abscess formation, Nail dystro... |
ORPHA:678 |
| Neuropathy, Hereditary Sensory, Type If |
|
Hyperkeratosis |
OMIM:615632 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Fine hair, Epicanthus, Downslanted palpebral fissures, Cryptorchidism, Sparse hair |
OMIM:616817 |
| Porokeratosis 7, Multiple Types |
|
Porokeratosis, Parakeratosis |
OMIM:614714 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Erythroderma, Alopecia, Fragile nails, Conjunctivitis |
OMIM:242150 |
| Even-Plus Syndrome |
|
Atopic dermatitis, Highly arched eyebrow, Sparse hair, Synophrys |
OMIM:616854 |
| Xp22.13P22.2 Duplication Syndrome |
|
Macroorchidism, Polycystic ovaries, Downslanted palpebral fissures, High anterior hairline, Spars... |
ORPHA:284180 |
| Glucose/Galactose Malabsorption |
|
Hypertonic dehydration |
OMIM:606824 |
| Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Pruritus, Parakeratosis |
ORPHA:158681 |
| Trichothiodystrophy 5, Nonphotosensitive |
|
Slow-growing hair, Brittle hair, Sparse hair, Tiger tail banding |
OMIM:300953 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Ptosis, Hypogonadism, Thick eyebrow, Cryptorchidism, Sparse hair, Decreased testicular size, Blep... |
ORPHA:127 |
| Adult Syndrome |
|
Conjunctivitis, Eczema, Hypoplastic nipples, Alopecia of scalp, Sparse axillary hair, Sparse scal... |
OMIM:103285 |
| Incontinentia Pigmenti |
|
Atrophic, patchy alopecia, Fine hair, Hypoplastic nipples, Sparse hair, Ridged nail, Nail dystrop... |
OMIM:308300 |
| Generalized Eruptive Keratoacanthoma |
|
Keratoconjunctivitis sicca, Ectropion, Conjunctivitis |
ORPHA:411777 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Secondary amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Decrea... |
ORPHA:432 |
| Tylosis With Esophageal Cancer |
|
Diffuse palmoplantar hyperkeratosis, Parakeratosis |
OMIM:148500 |
| Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Fine hair, Cryptorchidism, Sparse hair, Blepharophimosis |
OMIM:614438 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Arthritis, Otitis media, Purulent rhinitis, Conjunctivitis |
OMIM:601457 |
| Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Hepatomegaly, Pustule, Splenomegaly, Skin rash, Hyperkeratosis, Joint swelling |
OMIM:612852 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Sinusitis, Pneumonia, Bronchiectasis, Recurrent otitis media, Crohn's disease, Recurrent pneumoni... |
OMIM:601495 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Follicular hyperkeratosis |
ORPHA:300179 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Hypogonadism, Decreased testicular size, Sparse body hair, Decreased fertility |
ORPHA:2234 |
| Leopard Syndrome 3 |
|
Epidermal hyperkeratosis, Webbed neck, Hyperkeratosis |
OMIM:613707 |
| Acrokeratoelastoidosis Of Costa |
|
Hyperkeratotic papule, Orthokeratosis, Palmoplantar hyperkeratosis, Hypergranulosis |
ORPHA:38 |
| 46,Xy Sex Reversal 6 |
|
Chordee, Sparse axillary hair, Hirsutism, Dysgerminoma |
OMIM:613762 |
| Scarf Syndrome |
|
Hypoplastic nipples, Ptosis, Epicanthus, Downslanted palpebral fissures, Low posterior hairline, ... |
ORPHA:3134 |
| Porokeratosis 1, Multiple Types |
|
Porokeratosis, Parakeratosis |
OMIM:175800 |
| Complete Androgen Insensitivity Syndrome |
|
Sparse axillary hair, Acne, Sparse pubic hair, Bilateral cryptorchidism, Male infertility, Primar... |
ORPHA:99429 |
| 46,Xx Gonadal Dysgenesis |
|
Abnormality of secondary sexual hair, Secondary amenorrhea, Streak ovary, Sparse pubic hair, Incr... |
ORPHA:243 |
| Menkes Disease |
|
Sparse hair |
OMIM:309400 |
| Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Sparse eyelashes, Ptosis, Sparse eyebrow, Long palpebral fissure, Short palpebral fissure, Nail d... |
OMIM:613026 |
| Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Sparse and thin eyebrow, Sparse eyelashes, Sparse hair |
OMIM:224900 |
| Porokeratosis 3, Multiple Types |
|
Porokeratosis, Parakeratosis |
OMIM:175900 |
| Palmoplantar Keratoderma, Punctate Type Ia |
|
Hypergranulosis, Punctate palmoplantar hyperkeratosis, Orthokeratosis |
OMIM:148600 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Fine hair, Abnormal fingernail morphology, Sparse hair, Keratoconjunctivitis sicca |
ORPHA:1806 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Hepatocellular carcinoma, Ascites, Nodular regenerative hyperplasia of liver, Eleva... |
OMIM:619463 |
| Pearson Syndrome |
|
Hepatomegaly, Macronodular cirrhosis, Corneal stromal edema, Hydrops fetalis, Splenomegaly, Abnor... |
ORPHA:699 |
| Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Edema, Dehydration |
ORPHA:134 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Giant cell hepatitis, Acholic stools, Hypocholesterolemia, Splenomegaly, Cirrhosis,... |
OMIM:607765 |
| Cardiofaciocutaneous Syndrome 3 |
|
Webbed neck, Hyperkeratosis |
OMIM:615279 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatomegaly, Splenomegaly, Steatorrhea, Elevated circulating alkaline phosphatase concentration,... |
OMIM:235555 |
| Intrahepatic Cholestasis Of Pregnancy |
|
Ascites, Pruritus, Abnormality of the pancreas, Elevated circulating alkaline phosphatase concent... |
ORPHA:69665 |
| 19Q13.11 Microdeletion Syndrome |
|
Fine hair, Sparse lateral eyebrow, Nail dysplasia, Sparse or absent eyelashes, Cryptorchidism, Sp... |
ORPHA:217346 |
| Congenital Disorder Of Glycosylation, Type If |
|
Erythroderma, Hyperkeratosis |
OMIM:609180 |
| Ramon Syndrome |
|
Hyperkeratosis |
ORPHA:3019 |
| Joubert Syndrome 37 |
|
Cryptorchidism, Sparse hair, Decreased testicular size, Ptosis |
OMIM:619185 |
| Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Sparse axillary hair, Sparse facial hair |
OMIM:608154 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Fine hair, Low anterior hairline, Epicanthus, Downslanted palpebral fissures, Sparse hair, Synophrys |
ORPHA:391408 |
| Chronic Mucocutaneous Candidiasis |
|
Pruritus, Hepatitis, Skin rash, Hyperkeratosis |
ORPHA:1334 |
| Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Sparse eyelashes, Absent hair, Ridged nail, Nail dystrophy, Sparse eyebrow, Absent eyebrow, Trich... |
ORPHA:1010 |
| Rodrigues Blindness |
|
Fine hair, Sparse hair |
OMIM:268320 |
| Hepatoportal Sclerosis |
|
Hepatocellular carcinoma, Ascites, Pruritus, Nodular regenerative hyperplasia of liver, Abnormal ... |
ORPHA:64743 |
| Spondyloepimetaphyseal Dysplasia With Hypotrichosis |
|
Sparse hair |
OMIM:183849 |
| Bartter Syndrome, Type 3 |
|
Dehydration, Hyperaldosteronism |
OMIM:607364 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Hypogonadotropic hypogonadism, Downslanted palpebral fissures, Sparse body hair, Ptosis |
ORPHA:3068 |
| Combined Oxidative Phosphorylation Deficiency 40 |
|
Death in infancy, Nonimmune hydrops fetalis, Neonatal death, Decreased liver function, Decreased ... |
OMIM:618835 |
| Reynolds Syndrome |
|
Hepatomegaly, Pruritus, Splenomegaly, Sclerodactyly, Steatorrhea, Elevated circulating alkaline p... |
OMIM:613471 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Sparse eyelashes, Absent lacrimal punctum, Dystrophic fingernails, Dystrophic toenail, Ankyloblep... |
ORPHA:1071 |
| Scarf Syndrome |
|
Hypoplastic nipples, Low anterior hairline, Ptosis, Epicanthus, Downslanted palpebral fissures, L... |
OMIM:312830 |
| Combined Oxidative Phosphorylation Deficiency 42 |
|
Death in infancy, Nonimmune hydrops fetalis, Neonatal death, Decreased liver function, Decreased ... |
OMIM:618839 |
| Low Phospholipid-Associated Cholelithiasis |
|
Cholangitis, Hepatocellular carcinoma, Sclerosing cholangitis, Biliary tract obstruction, Choleli... |
ORPHA:69663 |
| Scalp-Ear-Nipple Syndrome |
|
Fine hair, Narrow palpebral fissure, Abnormal hair morphology, Epicanthus, Pyelonephritis, Nail d... |
OMIM:181270 |
| Cartilage-Hair Hypoplasia |
|
Fine hair, Sparse eyelashes, Sparse and thin eyebrow, Sparse hair, Sparse facial hair, Fair hair |
OMIM:250250 |
| Trichorhinophalangeal Syndrome, Type I |
|
Fine hair, Thin eyebrow, Sparse lateral eyebrow, Thin nail, Slow-growing hair, Osteoarthritis, Le... |
OMIM:190350 |
| Isolated Biliary Atresia |
|
Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Atretic gallbladder, Bile duct proli... |
ORPHA:30391 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Elevated hepatic t... |
ORPHA:79303 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Dehydration, Decreased circulating cortisol level |
ORPHA:90791 |
| Shigellosis |
|
Splenic abscess, Peritonitis, Cholestasis, Hepatic failure, Dehydration |
ORPHA:810 |
| Goldberg-Shprintzen Syndrome |
|
Highly arched eyebrow, Ptosis, Telecanthus, Downslanted palpebral fissures, Thick eyebrow, Sparse... |
OMIM:609460 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Ichthyosis, Hyperkeratosis |
ORPHA:281090 |
| Trichorhinophalangeal Syndrome Type 1 And 3 |
|
Sparse eyelashes, Fragile nails, Leukonychia, Sparse and thin eyebrow, Sparse hair |
ORPHA:77258 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Hypercholesterolemia, Sclerodactyly, Hyp... |
OMIM:610644 |
| Cystic Fibrosis |
|
Hepatomegaly, Pancreatitis, Cirrhosis, Hepatosplenomegaly, Steatorrhea, Exocrine pancreatic insuf... |
OMIM:219700 |
| Donohue Syndrome |
|
Acanthosis nigricans, Hepatic fibrosis, Pancreatic islet-cell hyperplasia, Cholestasis, Hyperkera... |
OMIM:246200 |
| Glucose-Galactose Malabsorption |
|
Dehydration |
ORPHA:35710 |
| X-Linked Agammaglobulinemia |
|
Sinusitis, Recurrent cutaneous abscess formation, Chronic otitis media, Alopecia, Hepatitis, Arth... |
ORPHA:47 |
| Glycogen Storage Disease Ixc |
|
Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly, Cirrhosi... |
OMIM:613027 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Narrow palpebral fissure, Sparse eyelashes, Annular pancreas, Nail dystrophy, Alopecia, Sparse ey... |
OMIM:268400 |
| Trichorhinophalangeal Syndrome, Type Iii |
|
Sparse lateral eyebrow, Sparse hair |
OMIM:190351 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Pustule, Myositis, Nail dystrophy, Malar rash, Nailfold capillary tortuosity, Skin rash, Pustular... |
OMIM:615934 |
| Neuroleptic Malignant Syndrome |
|
Elevated hepatic transaminase, Increased circulating lactate dehydrogenase concentration, Dehydra... |
ORPHA:94093 |
| Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Hepatic fibrosis, Hyperlipidemia, Cholelithiasis, Elevated gamma-glutamyltransferas... |
ORPHA:567983 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Acanthosis nigricans, Splenomegaly, Hypertriglyceridemia, Skin rash, Elevated hepat... |
OMIM:617591 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Interstitial pneumonitis, Ridged nail, Nail dystrophy, Alopecia, Sparse hair, Premature graying o... |
OMIM:127550 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Follicular hyperkeratosis |
OMIM:617066 |
| Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death |
OMIM:276822 |
| Hypotrichosis With Juvenile Macular Degeneration |
|
Hyperkeratosis |
ORPHA:1573 |
| Linear Verrucous Nevus Syndrome |
|
Hyperkeratosis |
ORPHA:2611 |
| Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Hyperkeratosis |
OMIM:145250 |
| Aredyld Syndrome |
|
Upslanted palpebral fissure, Aplasia/Hypoplasia of the eyebrow, Sparse body hair |
ORPHA:1133 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Aplasia/Hypoplastia of the eccrine sweat glands, Eczema, Sparse eyelashes, Hypoplastic nipples, R... |
OMIM:305100 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Abnormal toenail morphology, Sparse hair, Upslanted palpebral fissure, Alopecia |
ORPHA:1005 |
| Ichthyosis, Spastic Quadriplegia, And Mental Retardation |
|
Ichthyosis, Hyperkeratosis |
OMIM:614457 |
| Pachyonychia Congenita 3 |
|
Chapped lip, Palmoplantar keratoderma, Palmar hyperkeratosis, Hyperkeratosis, Plantar hyperkeratosis |
OMIM:615726 |
| Budd-Chiari Syndrome |
|
Hepatomegaly, Ascites, Peritonitis, Splenomegaly, Cirrhosis, Acute hepatic failure, Cholecystitis... |
ORPHA:131 |
| Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Palmoplantar keratoderma, Hyperkeratosis |
OMIM:616295 |
| Hypohidrotic Ectodermal Dysplasia |
|
Xerostomia, Eczema, Thin skin, Hyperkeratosis |
ORPHA:238468 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Small nail, Sparse eyelashes, Sparse eyebrow, Downslanted palpebral fissures, High anterior hairl... |
OMIM:250410 |
| Bone Marrow Failure Syndrome 3 |
|
Eczema, Small nail, Nail dystrophy, Epicanthus, Downslanted palpebral fissures, Cryptorchidism, A... |
OMIM:617052 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Fine hair, Epicanthus, Nail dysplasia, Aplasia/Hypoplasia of the eyebrow, Sparse hair |
OMIM:614091 |
| Cardiofaciocutaneous Syndrome |
|
Fine hair, Dystrophic fingernails, Ptosis, Brittle hair, Epicanthus, Downslanted palpebral fissur... |
ORPHA:1340 |
| Bainbridge-Ropers Syndrome |
|
|
