Hypotrichosis 9 |
|
Sparse scalp hair, Sparse body hair |
OMIM:614237 |
Hypotrichosis 2 |
|
Sparse scalp hair |
OMIM:146520 |
Hypotrichosis 15 |
|
Sparse scalp hair |
OMIM:620177 |
Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
Pili Gemini |
|
Abnormal hairshaft morphology, Hair shafts flattened at irregular intervals and twisted through 1... |
ORPHA:79492 |
Hypotrichosis 1 |
|
Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... |
OMIM:605389 |
Atrichia With Papular Lesions |
|
Sparse hair |
OMIM:209500 |
Hypotrichosis Simplex |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair |
ORPHA:55654 |
Hypotrichosis 10 |
|
Sparse eyebrow, Sparse eyelashes, Sparse body hair |
OMIM:614238 |
Discoid Fibromas, Familial Multiple |
|
Abnormal hair morphology |
OMIM:190340 |
Ringed Hair |
|
Abnormal hair morphology |
OMIM:180600 |
Hairy Nose Tip |
|
Abnormal hair morphology |
OMIM:139630 |
Hypotrichosis 11 |
|
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... |
OMIM:615059 |
Ichthyosis-Hypotrichosis Syndrome |
|
Sparse hair |
ORPHA:91132 |
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis |
|
Sparse hair |
OMIM:246500 |
Hypotrichosis 4 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair |
OMIM:146550 |
Ectodermal Dysplasia 6, Hair/Nail Type |
|
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail |
OMIM:614928 |
Witkop Syndrome |
|
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair |
OMIM:189500 |
Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa |
OMIM:616760 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse scalp hair, Alopecia, Sparse axillary hair, Sparse pubic hair, Perifollicular hyperkeratos... |
ORPHA:505 |
Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
Alopecia Areata 2 |
|
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis |
OMIM:610753 |
Alopecia, Familial Focal |
|
Patchy alopecia |
OMIM:104110 |
Alopecia-Intellectual Disability Syndrome 1 |
|
Alopecia, Alopecia universalis |
OMIM:203650 |
Alopecia Universalis Congenita |
|
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis |
OMIM:203655 |
Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
Hypertrichosis Lanuginosa Congenita |
|
Congenital, generalized hypertrichosis, Double eyebrow |
OMIM:145700 |
Ectodermal Dysplasia 9, Hair/Nail Type |
|
Concave nail, Absent eyelashes, Atrichia, Nail dystrophy, Nail dysplasia, Sparse hair, Absent hair |
OMIM:614931 |
Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Alopecia, Abnormal fingernail morphology, Sparse eyebrow, Hypoplastic toenails, Palmoplantar kera... |
ORPHA:2722 |
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
|
Sparse hair, Reduced terminal:vellus ratio, Pili torti |
OMIM:601553 |
Hypertrichosis, Anterior Cervical |
|
Anterior cervical hypertrichosis |
OMIM:600457 |
Hypertrichosis Universalis Congenita, Ambras Type |
|
Congenital, generalized hypertrichosis |
OMIM:145701 |
Alopecia Universalis |
|
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis |
ORPHA:701 |
Osteopenia And Sparse Hair |
|
Sparse hair |
OMIM:259690 |
Angioma Serpiginosum, X-Linked |
|
Sparse hair, Nail dystrophy, Fine hair |
OMIM:300652 |
Ringed Hair Disease |
|
Abnormal hair pattern, Fine hair |
ORPHA:169 |
Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Abnormal hair morphology, Hyperkeratosis, Onychogryposis, Palmoplantar hyperkeratosis |
OMIM:617756 |
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type |
|
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo... |
ORPHA:1808 |
Hypertrichosis, Congenital Generalized |
|
Congenital, generalized hypertrichosis, Hirsutism |
OMIM:307150 |
Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
Alopecia Areata 1 |
|
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis |
OMIM:104000 |
Dissecting Cellulitis Of The Scalp |
|
Abnormal hair morphology, Recurrent skin infections, Pruritus |
ORPHA:345 |
Hypotrichosis 6 |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Pruritus, Follicular hyperkeratosis, Sparse hair,... |
OMIM:607903 |
Hidrotic Ectodermal Dysplasia |
|
Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p... |
ORPHA:189 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail |
OMIM:617294 |
Hypotrichosis 13 |
|
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology |
OMIM:615896 |
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia, Alopecia of scalp |
OMIM:260910 |
Aredyld |
|
Generalized hypotrichosis |
OMIM:207780 |
Hair Defect With Photosensitivity And Mental Retardation |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair |
OMIM:234030 |
Ectodermal Dysplasia 5, Hair/Nail Type |
|
Sparse scalp hair, Dystrophic fingernails, Absent toenail |
OMIM:614927 |
Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:158000 |
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Sparse hair, Woolly hair |
OMIM:278200 |
Ectodermal Dysplasia 4, Hair/Nail Type |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... |
OMIM:602032 |
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses |
|
Sparse eyebrow, Sparse scalp hair, Absent eyebrow, Sparse eyelashes |
OMIM:620199 |
Ichthyosis Hystrix Of Curth-Macklin |
|
Hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Recurrent skin infections, Nail dystrophy |
ORPHA:79503 |
Hypotrichosis 14 |
|
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair |
OMIM:618275 |
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Alopecia totalis |
ORPHA:1014 |
Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Hypotrichosis 7 |
|
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... |
OMIM:604379 |
Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... |
ORPHA:573 |
Tooth Agenesis, Selective, 8 |
|
Sparse eyebrow, Sparse hair |
OMIM:617073 |
Kerion Celsi |
|
Inflammatory abnormality of the skin, Recurrent cutaneous abscess formation, Alopecia, Recurrent ... |
ORPHA:499 |
Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyebrow morphology, Parakeratosis, Sparse scalp hair, Absent facial hair, Allergic rhini... |
ORPHA:90368 |
Sabinas Brittle Hair Syndrome |
|
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:211390 |
Palmoplantar Keratoderma And Woolly Hair |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair |
OMIM:616099 |
Rothmund-Thomson Syndrome, Type 1 |
|
Absent eyebrow, Thin nail, Absent eyelashes, Hyperkeratosis, Recurrent otitis media, Nail dystrop... |
OMIM:618625 |
Moynahan Syndrome |
|
Sparse hair, Hyperkeratosis, Alopecia |
ORPHA:2574 |
Cervical Hypertrichosis With Underlying Kyphoscoliosis |
|
Anterior cervical hypertrichosis, Sacral hypertrichosis, Lumbar hypertrichosis, Thoracic hypertri... |
OMIM:117850 |
Familial Reactive Perforating Collagenosis |
|
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Abnormal fingern... |
ORPHA:79147 |
Marie Unna Hereditary Hypotrichosis |
|
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... |
ORPHA:444 |
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Alopecia, Plantar hyperkeratosis, Nail dystrophy, Pruritus |
OMIM:616487 |
Olmsted Syndrome 2 |
|
Parakeratosis, Pruritus, Perioral hyperkeratosis, Cheilitis, Palmoplantar hyperkeratosis, Hyperke... |
OMIM:619208 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Plantar hyperkeratosis, Brittle hair, Epidermal hyperkeratosis, Sparse eyebrow, Leukony... |
OMIM:104100 |
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive |
|
Pulmonary embolism, Vitreous hemorrhage, Purpura |
OMIM:612304 |
Verrucous Hemangioma |
|
Inflammatory abnormality of the skin, Hyperkeratotic papule |
ORPHA:464318 |
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Eczema, Pruritus, Palmoplantar keratoderm... |
OMIM:618535 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Hypotrichosis 12 |
|
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... |
OMIM:615885 |
Schopf-Schulz-Passarge Syndrome |
|
Ridged nail, Narrow nail, Thin nail, Poroma, Hyperkeratosis, Palmoplantar keratoderma, Onycholysi... |
OMIM:224750 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Sparse scalp hair, Sparse eyelashes, Angular cheilitis, Sparse axillary hair, Sparse eyebrow, Leu... |
OMIM:613102 |
Hypotrichosis-Intellectual Disability, Lopes Type |
|
Sparse hair |
ORPHA:2266 |
Trichodental Dysplasia |
|
Sparse hair, Brittle hair, Slow-growing hair, Fine hair |
OMIM:601453 |
Hidrotic Ectodermal Dysplasia, Halal Type |
|
Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e... |
ORPHA:1809 |
Crandall Syndrome |
|
Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:202 |
Parc Syndrome |
|
Absent eyelashes, Absent eyebrow, Alopecia |
OMIM:600331 |
Ulerythema Ophryogenesis |
|
Acne, Follicular hyperkeratosis, Hyperkeratotic papule, Contact dermatitis, Sparse lateral eyebrow |
ORPHA:3406 |
Quinquaud Folliculitis Decalvans |
|
Recurrent skin infections, Abnormal hair morphology, Scarring alopecia of scalp, Pustule, Patchy ... |
ORPHA:346 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Pruritus, Hyperkerat... |
OMIM:602400 |
Epidermolysis Bullosa Dystrophica, Pretibial |
|
Pruritus, Hyperkeratosis, Nail dystrophy |
OMIM:131850 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia universalis |
ORPHA:1008 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow... |
OMIM:602540 |
Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos... |
OMIM:614594 |
Ectodermal Dysplasia, Trichoodontoonychial Type |
|
Abnormal eyelash morphology, Sparse hair, Abnormal toenail morphology, Sparse body hair, Aplasia/... |
ORPHA:1818 |
Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Sparse hair |
ORPHA:401911 |
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
|
Sparse hair, Widow's peak, Atopic dermatitis, Thick eyebrow |
OMIM:606242 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Alopecia, Palmoplantar keratoderma, Fingernail dysplasia, Sparse hair, Onychogryposis of fingerna... |
ORPHA:2251 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Sparse hair, Palmoplantar keratoderma, Follicular hyperkeratosis |
OMIM:613576 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Alopecia, Parakeratosis, Palmoplantar hyperkeratosis, Nail dystrophy, Nail dysplasia, Erythroderm... |
OMIM:242300 |
Acne Inversa, Familial, 3 |
|
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa |
OMIM:613737 |
Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Eczema, Absent eyelashes, Palmoplantar keratoderma, Nail ... |
ORPHA:2890 |
Erosive Pustular Dermatosis Of The Scalp |
|
Abnormal hair morphology, Scarring alopecia of scalp, Pustule |
ORPHA:222 |
Immunodeficiency 51 |
|
Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic mucocutaneous candidiasis, Recurre... |
OMIM:613953 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Scarring alopecia of scalp, Palmoplantar keratoderma, Nail dystrophy, Anonychia, Sparse body hair |
ORPHA:79402 |
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair |
OMIM:129490 |
Uncombable Hair Syndrome 3 |
|
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi |
OMIM:617252 |
Schöpf-Schulz-Passarge Syndrome |
|
Alopecia, Ovarian neoplasm, Palmoplantar keratoderma, Sparse hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:50944 |
Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Absent eyebrow, Absent eyelashes, Palmoplantar hyperkeratosis, Nail dystrophy, Sparse hair, Alope... |
OMIM:604536 |
Retinopathy Of Prematurity |
|
Vitreous hemorrhage |
ORPHA:90050 |
Erythrokeratodermia Variabilis Et Progressiva 2 |
|
Palmoplantar keratoderma, Hypertrichosis |
OMIM:617524 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke... |
OMIM:613736 |
Idiopathic Trachyonychia |
|
Ridged nail, Thin nail, Concave nail, Atopic dermatitis, Nail pits, Patchy alopecia, Nail dystrop... |
ORPHA:79153 |
Trichothiodystrophy 9, Nonphotosensitive |
|
Sparse eyebrow, Tiger tail banding, Sparse hair, Nail dystrophy |
OMIM:619692 |
Hypotrichosis 5 |
|
Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs... |
OMIM:612841 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Subungual hyperkeratosis, Eczema, Scarring alopecia of scalp, Hypoplastic sweat glands, Nail dyst... |
OMIM:617337 |
Proliferating Trichilemmal Cyst |
|
Sparse scalp hair |
ORPHA:492 |
Erythrokeratodermia Variabilis |
|
Alopecia, Skin rash, Abnormal hair morphology, Patchy palmoplantar hyperkeratosis, Hyperkeratosis... |
ORPHA:317 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Sparse hair, Hyperkeratosis, Coarse hair, Brittle hair |
ORPHA:1883 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Ridged nail, Alopecia, Nail dystrophy, Nail pits |
OMIM:601705 |
Bazex-Dupré-Christol Syndrome |
|
Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor... |
ORPHA:113 |
Choroidal Atrophy-Alopecia Syndrome |
|
Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye... |
ORPHA:1433 |
Uncombable Hair Syndrome 1 |
|
Uncombable hair, Dry hair, Pili canaliculi |
OMIM:191480 |
Pili Torti |
|
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... |
ORPHA:2889 |
Classic Mycosis Fungoides |
|
Alopecia, Skin rash, Eczema, Pruritus, Hyperkeratosis, Abnormality of the nail |
ORPHA:2584 |
Hypotrichosis 3 |
|
Abnormal eyelash morphology, Sparse scalp hair, Abnormality of the nail, Abnormal sweat gland mor... |
OMIM:613981 |
Pseudopelade Of Brocq |
|
Sparse scalp hair, Alopecia, Recurrent skin infections, Abnormal hair morphology, Cheilitis, Abno... |
ORPHA:129 |
Lamellar Ichthyosis |
|
Pruritus, Hyperkeratosis, Abnormality of the nail, Erythroderma, Sparse hair, Chronic otitis medi... |
ORPHA:313 |
Alopecia Antibody Deficiency |
|
Abnormal eyelash morphology, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse body hair |
ORPHA:1006 |
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Sparse hair, Fine hair |
ORPHA:1174 |
Bathing Suit Ichthyosis |
|
Alopecia, Parakeratosis, Palmoplantar hyperkeratosis, Nail dystrophy, Erythroderma, Sparse hair |
ORPHA:100976 |
Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Eczema, Pruritus, Pustule, Palmoplantar keratoderma, Erythroderma, Abno... |
ORPHA:2897 |
Trichothiodystrophy 7, Nonphotosensitive |
|
Tiger tail banding, Brittle hair, Follicular hyperkeratosis |
OMIM:618546 |
Aquagenic Palmoplantar Keratoderma |
|
Orthokeratotic hyperkeratosis, Palmar pruritus, Palmoplantar keratoderma, Atopic dermatitis |
ORPHA:498359 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Keratitis, Folliculitis, Palmoplant... |
OMIM:308800 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Keratitis, Folliculitis, ... |
OMIM:612843 |
Pachyonychia Congenita 2 |
|
Subungual hyperkeratosis, Dry hair, Sparse scalp hair, Angular cheilitis, Sparse eyebrow, Palmopl... |
OMIM:167210 |
Woolly Hair, Autosomal Dominant |
|
Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Coarse hai... |
OMIM:194300 |
Focal Facial Dermal Dysplasia 3, Setleis Type |
|
Sparse hair, Distichiasis, Low anterior hairline, Absent lower eyelashes |
OMIM:227260 |
Ectodermal Dysplasia 7, Hair/Nail Type |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... |
OMIM:614929 |
Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Parakeratosis, Alopecia totalis, Posterior blepharitis, Palmoplantar hy... |
OMIM:300918 |
Bazex-Dupre-Christol Syndrome |
|
Eczema, Trichorrhexis nodosa, Atopic dermatitis, Coarse hair, Sparse hair, Trichoepithelioma, Pil... |
OMIM:301845 |
Focal Facial Dermal Dysplasia Type I |
|
Absent eyelashes, Low anterior hairline, Sparse hair, Distichiasis, Sparse lateral eyebrow |
ORPHA:79133 |
Hawkinsinuria |
|
Sparse hair, Fine hair |
ORPHA:2118 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... |
OMIM:225060 |
Oliver-Mcfarlane Syndrome |
|
Alopecia, Decreased response to growth hormone stimulation test, Long eyebrows, Cryptorchidism, L... |
OMIM:275400 |
Hereditary Mucoepithelial Dysplasia |
|
Sparse hair, Hyperkeratosis, Alopecia, Fine hair |
ORPHA:1839 |
Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy |
|
Anterior cervical hypertrichosis |
OMIM:239840 |
Björnstad Syndrome |
|
Alopecia, Brittle hair |
ORPHA:123 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Sparse scalp hair, Brittle hair, Fine hair, Hyperkeratosis, Pili torti |
ORPHA:1573 |
Epidermolytic Hyperkeratosis 2 |
|
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... |
OMIM:620150 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Hyperkeratosis, Pruritis on ... |
ORPHA:90280 |
Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate |
OMIM:618531 |
Retinal Capillary Malformation |
|
Vitreous hemorrhage, Hyphema |
ORPHA:71213 |
Ichthyosis Prematurity Syndrome |
|
Allergic rhinitis, Pruritus, Follicular hyperkeratosis, Erythroderma, Alopecia of scalp |
OMIM:608649 |
Papillon-Lefèvre Syndrome |
|
Recurrent cutaneous abscess formation, Severe periodontitis, Recurrent skin infections, Abnormal ... |
ORPHA:678 |
Syndromic X-Linked Intellectual Disability 7 |
|
Cryptorchidism, Sparse body hair |
ORPHA:85274 |
Linear Atrophoderma Of Moulin |
|
Pruritus, Inflammatory abnormality of the skin |
ORPHA:140933 |
Congenital Ichthyosiform Erythroderma |
|
Alopecia, Keratitis, Pruritus, Palmoplantar keratoderma, Erythroderma, Abnormality of the nail |
ORPHA:79394 |
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Sparse hair, Abnormal fingernail morphology, Eczema, Sparse body hair |
ORPHA:1810 |
Porphyria Cutanea Tarda, Type I |
|
Eczema, Hypertrichosis |
OMIM:176090 |
Glycosylphosphatidylinositol Biosynthesis Defect 25 |
|
Sparse hair, Coarse hair |
OMIM:619985 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, A... |
OMIM:615508 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... |
OMIM:613573 |
Cortisone Reductase Deficiency 1 |
|
Alopecia, Acne, Hirsutism |
OMIM:604931 |
Mal De Meleda |
|
Inflammatory abnormality of the skin, Nonepidermolytic palmoplantar hyperkeratosis, Superficial d... |
ORPHA:87503 |
Cardiofaciocutaneous Syndrome 2 |
|
Sparse hair, Curly hair, Absent eyebrow, Fine hair |
OMIM:615278 |
Coffin-Siris Syndrome 8 |
|
Sparse scalp hair, Eczema, Cryptorchidism, Long eyelashes, Thick eyebrow, Hypertrichosis |
OMIM:618362 |
Netherton Syndrome |
|
Sparse scalp hair, Parakeratosis, Brittle hair, Recurrent skin infections, Brittle scalp hair, Ec... |
OMIM:256500 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Alopecia, Parakeratosis, Sparse eyelashes, Thick hair, Sparse eyebrow, Pruritus, Sclerosing chola... |
OMIM:607626 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Alopecia, Decreased response to growth hormone stimulation test, Cryptorchidism, Long eyelashes, ... |
ORPHA:3363 |
Benign Cephalic Histiocytosis |
|
Inflammatory abnormality of the skin, Skin rash |
ORPHA:157997 |
Congenital Short Bowel Syndrome |
|
Sparse hair |
ORPHA:2301 |
Ichthyosis With Confetti |
|
Pruritus, Palmoplantar hyperkeratosis, Hypoplastic nipples, Erythroderma, Hypertrichosis |
OMIM:609165 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Vitreous hemorrhage, Posterior retinal neovascularization |
OMIM:193235 |
Acquired Ichthyosis |
|
Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Recurrent skin infections |
ORPHA:454 |
Retinoschisis 1, X-Linked, Juvenile |
|
Vitreous hemorrhage |
OMIM:312700 |
Pseudoprogeria Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Sparse hair |
ORPHA:2985 |
Lelis Syndrome |
|
Yellow nails, Absent lower eyelashes, Palmoplantar hyperkeratosis, Nail dystrophy, Sparse hair, A... |
ORPHA:140936 |
Lichen Planopilaris |
|
Alopecia, Abnormal fingernail morphology, Pruritus, Hepatitis, Hyperkeratosis, Onycholysis |
ORPHA:525 |
Oligodontia-Colorectal Cancer Syndrome |
|
Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Short eyelashes, Sparse body hair |
OMIM:608615 |
Dermoodontodysplasia |
|
Sparse scalp hair, Fingernail dysplasia, Trichodysplasia, Toenail dysplasia, Sparse body hair |
ORPHA:1660 |
Xq27.3Q28 Duplication Syndrome |
|
Decreased testicular size, Cryptorchidism, Sparse body hair |
ORPHA:261483 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Pneumonia, Atopic dermatitis, Nail dystrophy |
OMIM:618806 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Alopecia, Palmoplantar keratoderma, Conjunctivitis, Erythroderma, Sparse hair, Fragile nails |
OMIM:242150 |
Intellectual Developmental Disorder, Fra12A Type |
|
Hyperkeratosis, Erythroderma |
OMIM:136630 |
Elastosis Perforans Serpiginosa |
|
Hyperkeratotic papule, Crusting erythematous dermatitis |
ORPHA:79148 |
Psoriasis 14, Pustular |
|
Parakeratosis, Psoriasiform dermatitis, Cholangitis, Pustule, Oligoarthritis, Nail dystrophy |
OMIM:614204 |
Bjornstad Syndrome |
|
Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t... |
OMIM:262000 |
Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Erythroderma |
OMIM:615024 |
Heyn-Sproul-Jackson Syndrome |
|
Sparse hair |
OMIM:618724 |
Lipoid Proteinosis |
|
Pustule, Hyperkeratosis, Alopecia of scalp, Acne |
ORPHA:530 |
Tricho-Retino-Dento-Digital Syndrome |
|
Uncombable hair, Sparse hair |
ORPHA:1264 |
Odontoonychodermal Dysplasia |
|
Ridged nail, Sparse scalp hair, Plantar hyperkeratosis, Dry hair, Short nail, Thin nail, Sparse e... |
OMIM:257980 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Abnormal fingernail morphology, Fine hair, Hyperkeratosis, Keratoconjunctivitis sicca, Sparse hair |
ORPHA:1806 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Alopecia |
OMIM:241090 |
Trichothiodystrophy 8, Nonphotosensitive |
|
Eczema, Sparse eyebrow, Sparse hair, Woolly hair, Trichorrhexis nodosa |
OMIM:619691 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Sparse hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:181 |
Trichothiodystrophy 1, Photosensitive |
|
Brittle hair, Trichoschisis, Fine hair, Hyperkeratosis, Keratoconjunctivitis sicca, Fragile nails... |
OMIM:601675 |
Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis... |
OMIM:158310 |
Retinal Arteries, Tortuosity Of |
|
Retinal hemorrhage |
OMIM:180000 |
Lessel-Kubisch Syndrome |
|
Sparse pubic hair, Premature graying of hair |
OMIM:618681 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Sparse hair, Hyperkeratosis with erythema, Coarse hair |
OMIM:118650 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Alopecia, Osteomyelitis, Recurrent skin infections, Eczema, Pruritus, Recurrent pneumonia, Bronch... |
OMIM:618282 |
Nicolaides-Baraitser Syndrome |
|
Alopecia, Eczema, Curly eyelashes, Abnormal hair pattern, Highly arched eyebrow, Cryptorchidism, ... |
ORPHA:3051 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Sparse body hair |
ORPHA:59303 |
Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Sinusitis, Slow-growing hair, Eczema, Hyperkeratosis, Aplasia/Hypoplasia ... |
ORPHA:238468 |
Incontinentia Pigmenti |
|
Ridged nail, Alopecia, Maculopapular exanthema, Supernumerary nipple, Keratitis, Uveitis, Fine ha... |
OMIM:308300 |
Eem Syndrome |
|
Sparse scalp hair, Absent eyebrow, Sparse body hair |
ORPHA:1897 |
Pili Torti, Early-Onset |
|
Dry hair, Brittle hair, Coarse hair, Hair shafts flattened at irregular intervals and twisted thr... |
OMIM:261900 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Sparse pubic hair, Sparse axillary hair |
OMIM:146110 |
Congenital Disorder Of Glycosylation, Type Im |
|
Alopecia, Inflammatory abnormality of the skin, Sparse eyelashes, Sparse eyebrow, Hyperkeratosis |
OMIM:610768 |
Gand Syndrome |
|
Sparse hair |
OMIM:615074 |
Acrokeratosis Verruciformis Of Hopf |
|
Parakeratosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Leukonychia, Hyperkeratosis, N... |
ORPHA:79151 |
Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Erythroderma |
OMIM:133200 |
Kid Syndrome |
|
Angular cheilitis, Scarring alopecia of scalp, Posterior blepharitis, Recurrent cutaneous fungal ... |
ORPHA:477 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Sparse facial hair, Absent facial hair, Low posterior hairline |
ORPHA:2183 |
Ifap Syndrome 2 |
|
Angular cheilitis, Keratitis, Posterior blepharitis, Keratoconjunctivitis sicca, Nail dystrophy, ... |
OMIM:619016 |
Cardiofaciocutaneous Syndrome 4 |
|
Absent eyebrow, Curly hair, Sparse eyelashes, Decreased response to growth hormone stimulation te... |
OMIM:615280 |
Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Recurrent loss of toenails and fingernails, Crusting erythematous dermatitis, Palmoplantar hyperk... |
ORPHA:158673 |
Trichohepatoenteric Syndrome 2 |
|
Brittle hair, Chronic hepatitis, Uncombable hair, Colitis, Sparse hair, Woolly hair, Trichorrhexi... |
OMIM:614602 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dysplasia, Erysipelas |
OMIM:615704 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Abnormal hair morphology, Macroorchidism, Acne |
ORPHA:3000 |
Naxos Disease |
|
Subungual hyperkeratosis, Curly hair, Acantholysis, Sparse eyebrow, Diffuse palmoplantar hyperker... |
OMIM:601214 |
Localized Junctional Epidermolysis Bullosa |
|
Sparse axillary hair, Sparse pubic hair, Scarring alopecia of scalp, Atrophic, patchy alopecia, N... |
ORPHA:251393 |
Alopecia-Intellectual Disability Syndrome |
|
Sparse scalp hair, Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:2850 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Acne, Hirsutism |
OMIM:612847 |
Rapp-Hodgkin Syndrome |
|
Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Fine hair, Progressive... |
OMIM:129400 |
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities |
|
Sparse hair, Cryptorchidism |
OMIM:273390 |
Focal Facial Dermal Dysplasia Type Iii |
|
Sparse lower eyelashes, Abnormal hair pattern, Highly arched eyebrow, Sparse hair, Distichiasis, ... |
ORPHA:1807 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia |
|
Low anterior hairline, Hirsutism, Long eyelashes, Sparse hair, Thick eyebrow |
OMIM:616819 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Recurrent skin infections, Pruritus, Recurrent pneumonia, Cheilitis, Palmoplantar ke... |
ORPHA:158668 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Concave nail, Keratoconjunctivitis s... |
OMIM:234050 |
Fg Syndrome 3 |
|
Sparse hair, Cryptorchidism, Frontal upsweep of hair, Fine hair |
OMIM:300406 |
Peeling Skin Syndrome 4 |
|
Orthokeratosis, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy |
OMIM:607936 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Alopecia, Atrophic gastritis, Recurrent skin infections, Recurrent pneumonia, Bronchiectasis, Rec... |
OMIM:616576 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Hyperkeratosis, Eczema, Hypertrichosis |
OMIM:612379 |
Intellectual Developmental Disorder, Autosomal Recessive 5 |
|
Sparse hair, Synophrys, Eczema, Thick eyebrow |
OMIM:611091 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Sparse hair, Alopecia, Palmoplantar keratoderma, Abnormal fingernail morphology |
ORPHA:659 |
Central Precocious Puberty In Male |
|
Pituitary microadenoma, Acne, Abnormality of secondary sexual hair, Abnormality of the testis size |
ORPHA:649929 |
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Sparse hair, Brittle hair, Absent nipple, Absent hair |
OMIM:614940 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Pruritis on hand, Pruritis on bre... |
ORPHA:64745 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Alopecia, Highly arched eyebrow, Synophrys, Palmoplantar hyperkeratosis, Dystrophic toenail, Nail... |
ORPHA:3253 |
Sézary Syndrome |
|
Alopecia, Pruritus, Palmoplantar keratoderma, Nail dystrophy, Erythroderma |
ORPHA:3162 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Palmoplantar keratode... |
OMIM:106260 |
Filippi Syndrome |
|
Sparse hair, Cryptorchidism, Frontal hirsutism, Hypertrichosis |
OMIM:272440 |
Even-Plus Syndrome |
|
Sparse hair, Synophrys, Atopic dermatitis, Highly arched eyebrow |
OMIM:616854 |
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Angular cheilitis, Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Cheilitis, Leuko... |
OMIM:616295 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Palmoplantar ke... |
ORPHA:1010 |
Zinc Deficiency, Transient Neonatal |
|
Alopecia, Eczema |
OMIM:608118 |
Familial Acute Necrotizing Encephalopathy |
|
Choroid hemorrhage |
ORPHA:88619 |
Blepharocheilodontic Syndrome 1 |
|
Nail dysplasia, Small nail, Sparse hair, High anterior hairline, Distichiasis |
OMIM:119580 |
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Absent eyelashes, Rhinitis, H... |
OMIM:614941 |
Prolidase Deficiency |
|
Abnormal fingernail morphology, Pruritus, Crusting erythematous dermatitis, Low anterior hairline... |
ORPHA:742 |
Exudative Vitreoretinopathy 4 |
|
Vitreous hemorrhage |
OMIM:601813 |
Progeroid Syndrome, Petty Type |
|
Brittle hair, Abnormal hair morphology, Abnormality of the nail, Long eyelashes in irregular rows... |
ORPHA:2963 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Ecchymosis, Internal hemorrhage, Hemoper... |
ORPHA:99827 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Retin... |
ORPHA:464321 |
Androgen Insensitivity Syndrome |
|
Sparse pubic hair, Absent facial hair, Sparse axillary hair |
OMIM:300068 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Sparse hair, Hyperkeratosis, Alopecia, Abnormal toenail morphology |
ORPHA:1005 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Brittle hair, Slow-growing hair, Sparse eyebrow, Reduced hair sulfur content, Sparse hair, Tiger ... |
OMIM:300953 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Eczema, Chronic mucocutaneous candidiasis, Inflammation of the large intestine, Recurrent otitis ... |
ORPHA:98813 |
Kaposiform Lymphangiomatosis |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Subconjunctival hemorrhage, Ecchymosis, Bruisi... |
ORPHA:464329 |
Peeling Skin Syndrome 6 |
|
Orthokeratosis, Parakeratosis, Atopic dermatitis, Pruritus |
OMIM:618084 |
Noonan Syndrome 8 |
|
Hyperkeratosis, Curly hair, Eczema, Cryptorchidism |
OMIM:615355 |
Tooth Agenesis, Selective, 4 |
|
Sparse scalp hair, Sparse eyebrow, Short eyelashes, Palmar hyperkeratosis, Dystrophic fingernails... |
OMIM:150400 |
Poikiloderma With Neutropenia |
|
Plantar hyperkeratosis, Skin rash, Sparse eyebrow, Recurrent pneumonia, Low posterior hairline, H... |
OMIM:604173 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Sparse body hair |
ORPHA:69735 |
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies |
|
Sparse hair, Sparse eyebrow |
OMIM:619989 |
Anauxetic Dysplasia 2 |
|
Sparse hair, Nail dysplasia, Small nail |
OMIM:617396 |
Netherton Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Eczema, Skin rash, Sparse eyebrow, Abnormal hair morphology,... |
ORPHA:634 |
Centrifugal Lipodystrophy |
|
Inflammatory abnormality of the skin, Lymphadenitis, Alopecia |
ORPHA:90156 |
Trichotillomania |
|
Alopecia |
OMIM:613229 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Hyperkeratosis, Palmoplantar keratoderma, Erythroderma |
ORPHA:312 |
Peeling Skin Syndrome 1 |
|
Brittle hair, Pruritus, Onycholysis, Nail dystrophy, Erythroderma |
OMIM:270300 |
Lujo Hemorrhagic Fever |
|
Shock, Excessive bleeding after a venipuncture, Myocarditis, Subconjunctival hemorrhage, Bradycar... |
ORPHA:319213 |
Hemorrhagic Fever-Renal Syndrome |
|
Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Melena, Hype... |
ORPHA:340 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Nailfold capillary tortuosity, Myositis, Skin rash, Pustule, Nail dystrophy, Periungual erythema,... |
OMIM:615934 |
Bleeding Disorder, Platelet-Type, 21 |
|
Alopecia, Psoriasiform dermatitis, Eczema |
OMIM:617443 |
Cahmr Syndrome |
|
Generalized hypertrichosis |
OMIM:211770 |
Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Retinal hemorrhage |
OMIM:264420 |
Cronkhite-Canada Syndrome |
|
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Dystrophic toenail, Patchy alopec... |
ORPHA:2930 |
Eales Disease |
|
Peripheral retinal neovascularization, Transient ischemic attack, Epistaxis, Vitreous hemorrhage,... |
ORPHA:40923 |
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Sparse hair, Hypoplastic nipples, Small nail |
OMIM:273400 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Sparse hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:261304 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl... |
ORPHA:284426 |
Chilblain Lupus 1 |
|
Chilblains, Abnormality of the nail |
OMIM:610448 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Sparse hair, Alopecia, Nail dystrophy |
OMIM:616353 |
Psoriasis 2 |
|
Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis |
OMIM:602723 |
Cranioectodermal Dysplasia |
|
Sparse hair, Abnormal toenail morphology, Abnormal fingernail morphology |
ORPHA:1515 |
Onychotrichodysplasia And Neutropenia |
|
Curly hair, Curly eyelashes, Concave nail, Sparse pubic hair, Short eyelashes, Trichorrhexis nodo... |
OMIM:258360 |
Milroy Disease |
|
Hydrocele testis, Hyperkeratosis, Toenail dysplasia, Erysipelas |
ORPHA:79452 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Raynaud phenomenon, Retinal hemorrhage, Supraventricular arrhythmia, Lacunar stroke |
OMIM:611773 |
2Q32Q33 Microdeletion Syndrome |
|
Sparse hair, Decreased testicular size, Fine hair |
ORPHA:251019 |
Chronic Mucocutaneous Candidiasis |
|
Skin rash, Abnormal fingernail morphology, Pruritus, Cheilitis, Hepatitis, Broad nail, Hyperkerat... |
ORPHA:1334 |
Rodrigues Blindness |
|
Sparse hair, Fine hair |
OMIM:268320 |
Desbuquois Syndrome |
|
Sparse hair, Abnormal eyelash morphology |
ORPHA:1425 |
Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Acantholysis, Pruritus, Pustule, Ulcerative colitis, Cutan... |
ORPHA:555905 |
Müllerian Aplasia And Hyperandrogenism |
|
Thick eyebrow, Acne, Frontal balding, Synophrys, Facial hirsutism, High anterior hairline, Abnorm... |
ORPHA:247768 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Sparse hair, Abnormal hair whorl, Cryptorchidism |
ORPHA:2872 |
Acrofacial Dysostosis, Palagonia Type |
|
Sparse eyelashes, Low anterior hairline, Thin eyebrow, Sparse hair, Pili torti, Sparse lateral ey... |
ORPHA:1787 |
Shukla-Vernon Syndrome |
|
Sparse hair |
OMIM:301029 |
Exudative Vitreoretinopathy 1 |
|
Vitreous hemorrhage, Retinal neovascularization |
OMIM:133780 |
Familial Benign Copper Deficiency |
|
Early balding, Acne |
ORPHA:1551 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Decreased testicular size, Cryptorchidism, Increased circulating gonadotropin level, Sparse body ... |
OMIM:300869 |
Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Hyperkeratosis, Seborrheic dermatitis |
OMIM:610227 |
Pemphigus Foliaceus |
|
Psoriasiform dermatitis, Acantholysis, Pruritus, Pustule, Crusting erythematous dermatitis, Eryth... |
ORPHA:79481 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Sparse eyebrow, Hyperconvex fingernails... |
ORPHA:1071 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Sparse facial hair, Sparse axillary hair |
OMIM:608154 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Orthokeratosis, Parakeratosis, Palmoplantar keratoderma, Erythroderma |
OMIM:604777 |
Macular Degeneration, Age-Related, 1 |
|
Macular hemorrhage |
OMIM:603075 |
Juvenile Xanthogranuloma |
|
Hyphema |
ORPHA:158000 |
Noonan Syndrome 6 |
|
Curly hair, Long eyebrows, Cryptorchidism, Low posterior hairline, Sparse hair |
OMIM:613224 |
Menkes Disease |
|
Sparse hair, Alopecia, Brittle hair |
OMIM:309400 |
Dermatitis, Atopic |
|
Recurrent skin infections, Allergic rhinitis, Eczema, Pruritus, Atopic dermatitis, Conjunctivitis |
OMIM:603165 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Sparse hair, Hyperconvex nail, Eczema |
OMIM:619721 |
Rhizomelic Chondrodysplasia Punctata |
|
Alopecia, Sparse body hair |
ORPHA:177 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Hematochezia, Vasculitis, Subconjunctival hemorrhage, Vasculitis in the skin |
OMIM:617718 |
Vitreoretinochoroidopathy |
|
Vitreous hemorrhage, Retinal neovascularization |
OMIM:193220 |
Bone Marrow Failure Syndrome 3 |
|
Eczema, Pancreatic steatosis, Cryptorchidism, Hyperkeratosis, Nail dystrophy, Small nail, Hyperec... |
OMIM:617052 |
Reactive Arthritis |
|
Pericarditis, Osteomyelitis, Pustule, Enthesitis, Hyperkeratosis, Inflammation of the large intes... |
ORPHA:29207 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Sparse hair, Hirsutism |
OMIM:618087 |
Uveal Melanoma |
|
Vitreous hemorrhage |
ORPHA:39044 |
Rothmund-Thomson Syndrome |
|
Plantar hyperkeratosis, Sparse eyelashes, Alopecia totalis, Skin rash, Sparse eyebrow, Small nail... |
ORPHA:2909 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Sparse hair, Synophrys, Thin eyebrow, Low posterior hairline |
OMIM:619320 |
Xp22.13P22.2 Duplication Syndrome |
|
Sparse hair, High anterior hairline, Macroorchidism, Polycystic ovaries |
ORPHA:284180 |
Familial Exudative Vitreoretinopathy |
|
Vitreous hemorrhage, Macular telangiectasia, Retinal neovascularization |
ORPHA:891 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Erythroderma, Orthokeratosis |
OMIM:612281 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Curly hair, Sparse scalp hair, Eczema, Cryptorchidism, Hyperkeratosis, Loose anagen hair, Long ey... |
OMIM:607721 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Acne, Recurrent skin infections, Erythema nodosum, Hepatitis, Folliculitis, Inflammation of the l... |
OMIM:300635 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Sparse hair, Bronchiectasis, Aspiration pneumonia |
OMIM:618253 |
Fanconi Anemia, Complementation Group S |
|
Low anterior hairline, Ovarian neoplasm, Long eyelashes, Ovarian carcinoma, Sparse hair |
OMIM:617883 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Alopecia, Sinusitis, Osteomyelitis, Skin rash, Recurrent p... |
ORPHA:47 |
Holocarboxylase Synthetase Deficiency |
|
Perioral eczema, Alopecia, Eczema, Keratoconjunctivitis |
ORPHA:79242 |
Marburg Hemorrhagic Fever |
|
Abnormal bleeding, Shock, Tachycardia, Pericarditis, Excessive bleeding after a venipuncture, Hyp... |
ORPHA:99826 |
Pachydermoperiostosis |
|
Abnormal hair quantity, Osteomyelitis, Acne, Abnormal fingernail morphology, Abnormal hair patter... |
ORPHA:2796 |
Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Orthokeratosis, Hyperkeratosis, Erythroderma |
OMIM:615023 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Pustule, Recurrent pneumonia, Long eyelashes |
OMIM:616069 |
Tetrasomy 12P |
|
Sparse hair, Sparse eyebrow |
ORPHA:884 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Sparse hair, Cryptorchidism, Fine hair |
OMIM:616817 |
Trichorhinophalangeal Syndrome, Type I |
|
Slow-growing hair, Thin nail, Concave nail, Osteoarthritis, Leukonychia, Fine hair, Thin eyebrow,... |
OMIM:190350 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Sparse hair, Curly hair, Synophrys, Sparse eyebrow |
OMIM:620075 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Eczema, Concave nail, Absent eyela... |
OMIM:305100 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Sparse hair |
OMIM:620001 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Alopecia, Adrenal hyperplasia, Acne, Hirsutism |
OMIM:615830 |
Johnson Neuroectodermal Syndrome |
|
Sparse hair, Absent eyebrow, Alopecia, Absent eyelashes |
ORPHA:2316 |
Cardiofaciocutaneous Syndrome |
|
Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Cryptorchidism, Low posterior hairl... |
ORPHA:1340 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Sparse hair |
OMIM:610756 |
19Q13.11 Microdeletion Syndrome |
|
Supernumerary nipple, Cryptorchidism, Fine hair, Sparse or absent eyelashes, Nail dysplasia, Spar... |
ORPHA:217346 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Sparse hair, Polycystic ovaries |
OMIM:268020 |
Psoriasis 15, Pustular, Susceptibility To |
|
Psoriasiform dermatitis, Nail dystrophy |
OMIM:616106 |
Idiopathic Aplastic Anemia |
|
Retinal hemorrhage, Ecchymosis, Epistaxis, Gingival bleeding |
ORPHA:88 |
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Sparse hair, Sparse eyelashes, Sparse eyebrow |
OMIM:224900 |
Adult Syndrome |
|
Sparse scalp hair, Absent nipple, Fair hair, Eczema, Sparse axillary hair, Nail pits, Conjunctivi... |
OMIM:103285 |
Braddock-Carey Syndrome 1 |
|
Sparse hair, Curly hair |
OMIM:619980 |
Adiposis Dolorosa |
|
Sparse pubic hair, Arthritis, Recurrent skin infections, Sparse axillary hair |
ORPHA:36397 |
Joubert Syndrome 37 |
|
Sparse hair, Cryptorchidism, Decreased testicular size |
OMIM:619185 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Decreased testicular size, Sparse body hair |
ORPHA:2234 |
Hawkinsinuria |
|
Sparse hair |
OMIM:140350 |
Persistent Hyperplastic Primary Vitreous |
|
Hemorrhage of the eye |
ORPHA:91495 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Sparse hair, Synophrys, Low anterior hairline, Fine hair |
ORPHA:391408 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... |
OMIM:264800 |
Jaberi-Elahi Syndrome |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair |
OMIM:617988 |
Trichorhinophalangeal Syndrome Type 1 |
|
Sparse eyelashes, Sparse eyebrow, Leukonychia, Sparse hair, Fragile nails |
ORPHA:77258 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Sparse hair, Molluscum contagiosum, Aplasia of the eccrine sweat glands |
OMIM:300291 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Sparse hair, Patchy alopecia |
OMIM:617763 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Sparse hair, Sparse lateral eyebrow |
OMIM:190351 |
Retinoblastoma |
|
Vitreous hemorrhage, Hyphema, Subretinal pigment epithelium hemorrhage |
ORPHA:790 |
Borjeson-Forssman-Lehmann Syndrome |
|
Sparse hair, Cryptorchidism, Decreased testicular size, Thick eyebrow |
ORPHA:127 |
Complete Androgen Insensitivity Syndrome |
|
Acne, Sparse axillary hair, Elevated circulating luteinizing hormone level, Sparse pubic hair, Bi... |
ORPHA:99429 |
Morgagni-Stewart-Morel Syndrome |
|
Osteoarthritis, Acne, Hirsutism |
ORPHA:77296 |
Cardiofaciocutaneous Syndrome 1 |
|
Absent eyebrow, Curly hair, Slow-growing hair, Absent eyelashes, Atopic dermatitis, Low posterior... |
OMIM:115150 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Osteomyelitis, Skin rash, Eczema, Abnormal hair morphology, Pruritus, Paronychia, Chronic otitis ... |
ORPHA:2314 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Sparse hair |
OMIM:619910 |
Pressure-Induced Localized Lipoatrophy |
|
Inflammatory abnormality of the skin |
ORPHA:90160 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Sparse hair |
OMIM:614105 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Acne, Abnormality of the ovary, Hirsutism, Polycystic ovaries |
ORPHA:2795 |
Incontinentia Pigmenti |
|
Alopecia, Skin rash, Abnormal fingernail morphology, Supernumerary nipple, Abnormal hair morpholo... |
ORPHA:464 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Alopecia, Myositis, Psoriasiform dermatitis, Eczema, Pneumonia, Osteomyelitis, Recurrent skin inf... |
ORPHA:37042 |
Classic Phenylketonuria |
|
Hypopigmentation of hair, Eczema |
ORPHA:79254 |
46,Xy Sex Reversal 6 |
|
Hirsutism, Sparse axillary hair |
OMIM:613762 |
Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Abnormal eyebrow morphology, Alopecia, Abnormal fingernail morphology, ... |
ORPHA:1775 |
Acute Generalized Exanthematous Pustulosis |
|
Predominantly dermal neutrophilic infiltrate, Acantholysis, Pruritus, Pustule, Cheilitis, Eosinop... |
ORPHA:293173 |
Chromosome 5P13 Duplication Syndrome |
|
Sparse hair, Low posterior hairline |
OMIM:613174 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia, Glomerulonephritis, Eczema, Hepatitis, Arthritis, Erythroderma |
OMIM:304790 |
Neonatal Lupus Erythematosus |
|
Parakeratosis, Skin rash, Maculopapular exanthema, Hyperkeratosis, Malar rash |
ORPHA:398124 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Hyphema |
OMIM:221900 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Perianal abscess, Enterocolitis, Folliculitis, Pyoderma, Colitis, Crohn's disease |
OMIM:613148 |
Leptospirosis |
|
Pericarditis, First degree atrioventricular block, Retinal hemorrhage, Subconjunctival hemorrhage... |
ORPHA:509 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Horizontal ey... |
ORPHA:294023 |
Acrodermatitis Enteropathica |
|
Ridged nail, Abnormal eyebrow morphology, Alopecia, Pustule, Paronychia, Cheilitis, Conjunctiviti... |
ORPHA:37 |
Ruijs-Aalfs Syndrome |
|
Premature graying of hair, Sparse hair |
OMIM:616200 |
Chronic Actinic Dermatitis |
|
Late onset atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Erythroderma |
ORPHA:330064 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Sparse scalp hair, Sparse eyelashes, Absence of Stensen duct, Sparse axillary hair, Decreased res... |
OMIM:129900 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Ridged nail, Alopecia, Nail pits, Premature graying of hair, Interstitial pneumonitis, Nail dystr... |
OMIM:127550 |
Panniculitis-Induced Localized Lipodystrophy |
|
Inflammatory abnormality of the skin |
ORPHA:90159 |
Prolidase Deficiency |
|
Eczema, Crusting erythematous dermatitis, Recurrent pneumonia, Low posterior hairline, Facial hir... |
OMIM:170100 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Sparse eyelashes, Sparse eyebrow, Patchy alopecia, Erythroderma, Sparse hair |
OMIM:302960 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Pustule, Paronychia, Erythroderma, Blepharitis, Onychogryposis |
OMIM:614328 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Episcleritis, Absent eyebrow, Alopecia, Thin fingernail, Eczema, Abnormal eyelash morphology, Abn... |
ORPHA:2273 |
Behcet Syndrome |
|
Erythema nodosum, Iridocyclitis, Epididymitis, Arthritis, Patchy alopecia, Iritis |
OMIM:109650 |
Macs Syndrome |
|
Alopecia, Sparse eyebrow, Cryptorchidism, Bronchiectasis, Recurrent aphthous stomatitis, Sparse hair |
OMIM:613075 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Sparse hair, Cryptorchidism |
OMIM:219150 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Psoriasiform dermatitis, Eczema, Erythroderma, Thyroiditis, Patchy alopecia, Chronic oral candidi... |
OMIM:606367 |
Scarf Syndrome |
|
Sparse hair, Cryptorchidism, Hypoplastic nipples, Low posterior hairline |
ORPHA:3134 |
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Retinal hemorr... |
OMIM:192315 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteomyelitis, Skin rash, Pustule, Hyperkeratosis, Stomatitis |
OMIM:612852 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Absent eyebrow, Psoriasiform dermatitis, Hepatitis, Hypoplasia of the thymus, Nail dystrophy, Spa... |
ORPHA:436252 |
Acute Radiation Syndrome |
|
Hyperkeratosis, Inflammatory abnormality of the skin, Interstitial pneumonitis |
ORPHA:454831 |
Revesz Syndrome |
|
Nail pits, Fine hair, Nail dystrophy, Sparse hair, Ridged fingernail |
OMIM:268130 |
Oculodentodigital Dysplasia |
|
Curly hair, Brittle hair, Slow-growing hair, Abnormal fingernail morphology, Fine hair, Palmoplan... |
ORPHA:2710 |
Cartilage-Hair Hypoplasia |
|
Sparse eyelashes, Sparse facial hair, Sparse eyebrow, Fine hair, Sparse hair, Fair hair |
OMIM:250250 |
Aredyld Syndrome |
|
Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:1133 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Nail dysplasia, Sparse hair |
OMIM:613026 |
Biotinidase Deficiency |
|
Alopecia, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Conjunctivitis |
OMIM:253260 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Sparse hair, Nail dysplasia, Aplasia/Hypoplasia of the eyebrow, Fine hair |
OMIM:614091 |
Lethal Congenital Contracture Syndrome 5 |
|
Subdural hemorrhage, Retinal hemorrhage |
OMIM:615368 |
Premature Aging Syndrome, Penttinen Type |
|
Sparse hair, Hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:601812 |
Frontonasal Dysplasia 2 |
|
Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Bilateral cryptorchidism, Fine hair, Sparse hair |
OMIM:613451 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Sparse eyelashes, Sparse eyebrow, Small nail, Sparse hair, High anterior hairline |
OMIM:250410 |
Leprosy |
|
Absent eyebrow, Alopecia, Loss of eyelashes, Testicular mass, Uveitis, Hyperkeratosis, Iritis, Sp... |
ORPHA:548 |
Hatipoglu Immunodeficiency Syndrome |
|
Eczema, Cryptorchidism, Atopic dermatitis, Premature graying of hair, Recurrent otitis media, Fai... |
OMIM:620331 |
Mandibuloacral Dysplasia |
|
Sparse hair, Alopecia, Hypoplastic fingernail |
ORPHA:2457 |
Adams-Oliver Syndrome |
|
Alopecia, Aplastic/hypoplastic toenail, Absent fingernail, Sparse hair, Hypoplastic fingernail |
ORPHA:974 |
Noonan Syndrome 14 |
|
Curly hair, Sparse eyebrow, Cryptorchidism, Low posterior hairline, Sparse hair |
OMIM:619745 |
Idiopathic Localized Lipodystrophy |
|
Pruritus, Inflammatory abnormality of the skin |
ORPHA:90158 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Sparse hair, Alopecia, Brittle hair |
OMIM:608612 |
Short Syndrome |
|
Sparse hair, Alopecia |
ORPHA:3163 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Angina pectoris, Retinal hemorrhage, Cerebral hemorrhage |
OMIM:177850 |
Scarf Syndrome |
|
Cryptorchidism, Low anterior hairline, Low posterior hairline, Hypoplastic nipples, Sparse hair |
OMIM:312830 |
Agel Amyloidosis |
|
Sparse hair, Keratoconjunctivitis sicca, Nail dystrophy, Pruritus |
ORPHA:85448 |
Bainbridge-Ropers Syndrome |
|
Highly arched eyebrow, Supernumerary nipple, Cryptorchidism, Synophrys, Hirsutism, Long eyelashes... |
OMIM:615485 |
Marshall Syndrome |
|
Sparse hair, Osteoarthritis, Sparse eyelashes, Sparse eyebrow |
ORPHA:560 |
Atelis Syndrome 2 |
|
Vitreous hemorrhage, Pulmonic stenosis, Supravalvar pulmonary stenosis |
OMIM:620185 |
Osteogenesis Imperfecta, Type Xx |
|
Sparse hair, Highly arched eyebrow, Sparse lateral eyebrow |
OMIM:618644 |
Nablus Mask-Like Facial Syndrome |
|
Sparse eyelashes, Highly arched eyebrow, Absent eyelashes, Sparse eyebrow, Cryptorchidism, Low an... |
OMIM:608156 |
Rothmund-Thomson Syndrome Type 1 |
|
Plantar hyperkeratosis, Alopecia totalis, Cryptorchidism, Sparse or absent eyelashes, Nail dyspla... |
ORPHA:221008 |
Chime Syndrome |
|
Sparse hair, Hyperkeratosis, Fine hair |
ORPHA:3474 |
Ring Chromosome 12 Syndrome |
|
Acne, Cryptorchidism, Hirsutism, Breast hypoplasia, Dystrophic toenail |
ORPHA:1439 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Recurrent otitis media, Inflammatory abnormality of the skin, Sinusitis, Recurrent pneumonia |
ORPHA:277 |
Mullerian Aplasia And Hyperandrogenism |
|
Acne, Hirsutism |
OMIM:158330 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Streak ovary, Sparse facial hair, Sparse eyebrow, Sparse p... |
ORPHA:2232 |
Estrogen Resistance Syndrome |
|
Acne, Abnormality of the pubic hair, Enlarged polycystic ovaries, Increased circulating gonadotro... |
ORPHA:785 |
Central Retinal Vein Occlusion |
|
Intraretinal hemorrhage, Retinal neovascularization |
ORPHA:411527 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Sparse hair, Recurrent pneumonia |
OMIM:616449 |
Rothmund-Thomson Syndrome, Type 2 |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, ... |
OMIM:268400 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Sparse hair, Cryptorchidism, Fine hair |
OMIM:614438 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Sparse body hair |
ORPHA:3068 |
Hamamy Syndrome |
|
Hypoparathyroidism, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Low posterior hairline, Spa... |
OMIM:611174 |
Phacoanaphylactic Uveitis |
|
Hyphema, Retinal arteritis |
ORPHA:209959 |
Hallermann-Streiff Syndrome |
|
Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Cryptorchidism, Uveitis,... |
ORPHA:2108 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Sparse hair, Thick eyebrow, Long eyelashes, Hirsutism |
OMIM:212066 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Sparse hair, Sparse eyelashes, Fine hair |
OMIM:257850 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Eczema, Synophrys, Sparse hair, Toenail dysplasia, Chronic otitis media, Hirsutism |
OMIM:300966 |
Meige Disease |
|
Recurrent bacterial skin infections, Cobblestone-like hyperkeratosis, Recurrent skin infections |
ORPHA:90186 |
Gapo Syndrome |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Hypoplastic nipples, Nail dysplasia, Sparse hair, Bre... |
OMIM:230740 |
Mixed Connective Tissue Disease |
|
Alopecia, Pericarditis, Skin rash, Myositis, Gastritis, Myocarditis, Arthritis, Keratoconjunctivi... |
ORPHA:809 |
Rothmund-Thomson Syndrome Type 2 |
|
Plantar hyperkeratosis, Alopecia totalis, Cryptorchidism, Sparse or absent eyelashes, Nail dyspla... |
ORPHA:221016 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, R... |
ORPHA:758 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Alopecia, Recurrent skin infections, Palmoplantar keratoderma, Nail dystrophy, Onychogryposis |
ORPHA:79396 |
Craniolenticulosutural Dysplasia |
|
Sparse hair, Coarse hair, Brittle hair |
ORPHA:50814 |
Cranioectodermal Dysplasia 3 |
|
Sparse hair, Broad nail, Short nail, Fine hair |
OMIM:614099 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia, Skin rash |
OMIM:253270 |
Monosomy 22 |
|
Sparse hair, Synophrys, Aplasia of the thymus, Seborrheic dermatitis |
ORPHA:96123 |
Refractory Anemia With Excess Blasts |
|
Abnormal bleeding, Palpitations, Retinal hemorrhage |
ORPHA:86839 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Fine hair, Premature graying of hair, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:612199 |
Nicolaides-Baraitser Syndrome |
|
Absent eyebrow, Dry hair, Sparse scalp hair, Eczema, Cryptorchidism, Low anterior hairline, Low p... |
OMIM:601358 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Subungual hyperkeratosis, Alopecia, Absent eyebrow, Sparse scalp hair, Eczema, Recurrent skin inf... |
OMIM:308205 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Sparse hair, Coarse hair, Thick hair |
ORPHA:357074 |
Yao Syndrome |
|
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Arthritis, Keratoconjunctivitis sicca |
OMIM:617321 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, Vasculitis, Retinal hemorrhage,... |
ORPHA:33226 |
Glass Syndrome |
|
Sparse hair, Long eyelashes, Nail dysplasia |
OMIM:612313 |
Rat-Bite Fever |
|
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... |
ORPHA:31205 |
Oculodentodigital Dysplasia |
|
Dry hair, Slow-growing hair, Uveitis, Fine hair, Sparse hair, Fragile nails |
OMIM:164200 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Curly hair, Slow-growing hair, Highly arched eyebrow, Cryptorchidism, Low posterior hairline, Coa... |
OMIM:617506 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Cephalohematoma, Intracr... |
ORPHA:853 |
Hereditary Acrokeratotic Poikiloderma |
|
Eczema, Pustule, Palmoplantar hyperkeratosis, Keratoconjunctivitis, Nail dystrophy, Dystrophic fi... |
ORPHA:2907 |
Majeed Syndrome |
|
Inflammatory abnormality of the skin, Osteomyelitis, Skin rash |
OMIM:609628 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Sparse hair, Nail dysplasia, Breast hypoplasia, Small nail |
OMIM:614813 |
Immunodeficiency 59 And Hypoglycemia |
|
Recurrent skin infections, Herpes simplex encephalitis, Arteritis, Recurrent aphthous stomatitis,... |
OMIM:233600 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Sparse hair, Cryptorchidism, Decreased testicular size, Fine hair |
ORPHA:251028 |
Interstitial Granulomatous Dermatitis With Arthritis |
|
Pruritus, Inflammatory abnormality of the skin, Rheumatoid arthritis |
ORPHA:79099 |
Hallermann-Streiff Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Recurrent pneumonia, Fine ha... |
OMIM:234100 |
Estrogen Resistance |
|
Breast aplasia, Acne, Polycystic ovaries |
OMIM:615363 |
Down Syndrome |
|
Sparse hair |
ORPHA:870 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Absent eyebrow, Absent eyelashes, Premature graying of hair, Sparse hair, Alopecia universalis |
ORPHA:363618 |
Teebi-Shaltout Syndrome |
|
Sparse hair, Low anterior hairline, Highly arched eyebrow, Slow-growing hair |
OMIM:272950 |
Trichohepatoenteric Syndrome 1 |
|
Curly hair, Brittle hair, Fine hair, Sparse hair, Woolly hair, Trichorrhexis nodosa |
OMIM:222470 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Pruritus, Iridocyclitis, Oligoarthritis, Uv... |
ORPHA:85436 |
Weaver Syndrome |
|
Deep-set nails, Thin nail, Cryptorchidism, Fine hair, Hydrocele testis, Sparse hair |
OMIM:277590 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Sparse hair, Thin nail, Eczema |
OMIM:617799 |
Goldberg-Shprintzen Syndrome |
|
Sparse hair, Synophrys, Thick eyebrow, Highly arched eyebrow |
OMIM:609460 |
Graft Versus Host Disease |
|
Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ga... |
ORPHA:39812 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Sparse hair, Brittle hair, Fine hair |
OMIM:618891 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Sparse hair, Aplasia of the sweat glands, Sparse scalp hair |
OMIM:612132 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Sparse hair |
OMIM:615349 |
Scalp-Ear-Nipple Syndrome |
|
Sparse axillary hair, Sparse pubic hair, Fine hair, Pyelonephritis, Patchy alopecia, Breast aplas... |
OMIM:181270 |
Scalp-Ear-Nipple Syndrome |
|
Sparse hair, Abnormal fingernail morphology, Breast aplasia, Pyelonephritis |
ORPHA:2036 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborrheic dermat... |
ORPHA:83617 |
Majeed Syndrome |
|
Inflammatory abnormality of the skin, Osteomyelitis, Acne, Pustule, Synovitis, Abnormal inflammat... |
ORPHA:77297 |
White-Sutton Syndrome |
|
Sparse hair |
OMIM:616364 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Highly arched eyebrow, Palmoplantar hyperkeratosis, Fine hair, Hydrocele testis, Hypoplastic nipp... |
OMIM:280000 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Sparse hair, Cryptorchidism |
OMIM:616541 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Cryptorchidism, Breast hypoplasia, Hypoplasia of the ovary, Sparse body hair, Decreased testicula... |
ORPHA:432 |
Craniolenticulosutural Dysplasia |
|
Sparse hair, Cryptorchidism, Coarse hair, Brittle hair |
OMIM:607812 |
Ablepharon Macrostomia Syndrome |
|
Absent eyebrow, Abnormal hair pattern, Absent eyelashes, Fine hair, Sparse hair, Breast hypoplasia |
ORPHA:920 |
Retinoblastoma |
|
Vitreous hemorrhage |
OMIM:180200 |
Restrictive Dermopathy |
|
Short nail, Epidermal hyperkeratosis, Sparse eyebrow, Aplasia/Hypoplastia of the eccrine sweat gl... |
ORPHA:1662 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Sparse hair, Decreased response to growth hormone stimulation test |
OMIM:614114 |
Kindler Epidermolysis Bullosa |
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Recurrent skin infections, Cheilitis, Hyperkeratosis, Inflammation of the large intestine, Palmop... |
ORPHA:2908 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
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Sparse hair, Cryptorchidism, Gout |
OMIM:300661 |
Sapho Syndrome |
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Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Recurrent skin infections, Pustule, Syno... |
ORPHA:793 |
Necrobiosis Lipoidica |
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Inflammatory abnormality of the skin |
ORPHA:542592 |
Cerebellar-Facial-Dental Syndrome |
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Sparse hair, Cryptorchidism, Sparse eyebrow, Fine hair |
ORPHA:444072 |
Familial Drusen |
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Macular hemorrhage |
ORPHA:75376 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
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Alopecia, Acne, Testicular adrenal rest tumor, Polycystic ovaries, Hirsutism |
ORPHA:90795 |
Vexas Syndrome |
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Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Chondritis of pinna,... |
OMIM:301054 |
Opitz-Kaveggia Syndrome |
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Sparse hair, Cryptorchidism, Frontal upsweep of hair, Fine hair |
OMIM:305450 |
Autosomal Dominant Hypocalcemia |
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Alopecia, Abnormal fingernail morphology, Eczema, Abnormality of the nail |
ORPHA:428 |
Mandibuloacral Dysplasia Progeroid Syndrome |
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Sparse hair, Sparse eyebrow, Nail dystrophy, Palmoplantar hyperkeratosis |
OMIM:619127 |
Marshall-Smith Syndrome |
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Brittle hair, Highly arched eyebrow, Bilateral cryptorchidism, Cryptorchidism, Synophrys, Aspirat... |
OMIM:602535 |
Atypical Werner Syndrome |
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Abnormal hair quantity, Alopecia, Abnormal hair morphology, Abnormal hair whorl, Ovarian neoplasm... |
ORPHA:79474 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
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Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Trichiasis, Acantho... |
ORPHA:95455 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
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Highly arched eyebrow, Cryptorchidism, Fine hair, Low posterior hairline, Sparse hair |
OMIM:613563 |
Lysinuric Protein Intolerance |
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Sparse hair, Pancreatitis, Fine hair |
OMIM:222700 |
Orofaciodigital Syndrome Type 1 |
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Alopecia, Brittle hair, Pancreatic cysts, Coarse hair, Sparse hair, Chronic otitis media |
ORPHA:2750 |
Kaufman Oculocerebrofacial Syndrome |
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Sparse hair, Sparse eyebrow |
OMIM:244450 |
Menkes Disease |
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Sparse hair, Woolly hair, Hypopigmentation of hair, Osteomyelitis |
ORPHA:565 |
Woodhouse-Sakati Syndrome |
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Sparse hair, Alopecia, Decreased testicular size, Fine hair |
OMIM:241080 |
De Barsy Syndrome |
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Sparse hair, Cryptorchidism |
ORPHA:2962 |
Cranioectodermal Dysplasia 1 |
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Slow-growing hair, Short nail, Thin nail, Fine hair, Tubulointerstitial nephritis, Sparse hair |
OMIM:218330 |
B4Galt1-Cdg |
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Inflammatory abnormality of the skin |
ORPHA:79332 |
Mucolipidosis Ii Alpha/Beta |
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Brittle hair, Sparse eyebrow, Recurrent pneumonia, Sparse hair, Recurrent otitis media |
OMIM:252500 |
Rift Valley Fever |
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Abnormal bleeding, Hematemesis, Retinal hemorrhage, Melena, Gingival bleeding |
ORPHA:319251 |
Granulomatosis With Polyangiitis |
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Retinal hemorrhage, Localized pulmonary hemorrhage, Diffuse alveolar hemorrhage |
OMIM:608710 |
Orofaciodigital Syndrome I |
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Alopecia, Dry hair, Pancreatic cysts, Ovarian cyst, Sparse hair |
OMIM:311200 |
Generalized Glucocorticoid Resistance Syndrome |
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Frontal balding, Adrenal hyperplasia, Acne, Hirsutism |
ORPHA:786 |
Glutaryl-Coa Dehydrogenase Deficiency |
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Subdural hemorrhage, Retinal hemorrhage |
ORPHA:25 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
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Retinal hemorrhage, Hypertension, Tachycardia, Bradycardia |
OMIM:614653 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Highly arched eyebrow, Hyphema, Pulmonic stenosis, Aortic valve stenosis, Broad eyebrow |
ORPHA:261552 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Fine hair, Hyperkeratosis, S... |
OMIM:210710 |
Stuve-Wiedemann Syndrome 1 |
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Sparse hair |
OMIM:601559 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
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Sparse hair |
OMIM:619934 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
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Absent nipple, Aplasia of the thymus, Sparse eyebrow, Hydrocele testis, Nail dystrophy, Hypoplast... |
OMIM:620186 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
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Decreased testicular size, Elevated circulating luteinizing hormone level, Sparse axillary hair, ... |
ORPHA:90796 |
Cartilage-Hair Hypoplasia |
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Sparse hair, Sparse eyebrow |
ORPHA:175 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
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Sparse scalp hair, Anterior pituitary hypoplasia, Highly arched eyebrow, Sparse eyebrow, Cryptorc... |
OMIM:619841 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
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Urinary bladder inflammation, Recurrent skin infections, Nail dystrophy |
ORPHA:79403 |
Cranioectodermal Dysplasia 2 |
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Sparse eyelashes, Cholangitis, Sparse eyebrow, Recurrent pneumonia, Bile duct proliferation, Spar... |
OMIM:613610 |
Kawasaki Disease |
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Abnormality of nail color, Pericarditis, Skin rash, Myocarditis, Hepatitis, Cheilitis, Arthritis,... |
ORPHA:2331 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
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Sparse hair, Frontal hirsutism, Eczema, Pseudohypoparathyroidism |
OMIM:617157 |
Cockayne Syndrome B |
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Sparse hair, Cryptorchidism, Dry hair, Abnormal hair morphology |
OMIM:133540 |
Lenz-Majewski Hyperostotic Dwarfism |
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Sparse hair, Cryptorchidism, Anterior pituitary hypoplasia |
OMIM:151050 |
Ablepharon-Macrostomia Syndrome |
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Absent eyebrow, Absent eyelashes, Hypoplastic nipples, Sparse hair, Hypoplastic fingernail |
OMIM:200110 |
Uremic Pruritus |
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Pruritus, Inflammatory abnormality of the skin, Recurrent skin infections |
ORPHA:94059 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
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Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pneumonia, Aplasia of the thymus, Rec... |
OMIM:102700 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
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Sparse hair, Cryptorchidism |
OMIM:620005 |
Melkersson-Rosenthal Syndrome |
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Inflammatory abnormality of the skin, Cheilitis |
ORPHA:2483 |
Myhre Syndrome |
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Sparse hair, Cryptorchidism, Thick eyebrow, Fine hair |
OMIM:139210 |
Cockayne Syndrome A |
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Sparse hair, Cryptorchidism, Dry hair |
OMIM:216400 |
Neurocardiofaciodigital Syndrome |
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Sparse hair, Sparse eyebrow |
OMIM:619869 |
Focal Dermal Hypoplasia |
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Ridged nail, Brittle hair, Supernumerary nipple, Cryptorchidism, Patchy alopecia, Nail dystrophy,... |
OMIM:305600 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
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Sparse hair, Cryptorchidism, Nail dysplasia |
OMIM:616682 |
Cockayne Syndrome Type 3 |
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Dry hair, Subdural hemorrhage, Retinal hemorrhage, Premature graying of hair, Cardiomyopathy, Inc... |
ORPHA:90324 |
Costello Syndrome |
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Deep-set nails, Curly hair, Thin nail, Concave nail, Sparse hair, Fragile nails |
OMIM:218040 |
Roberts Syndrome |
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Sparse hair, Cryptorchidism |
ORPHA:3103 |
Leukocyte Adhesion Deficiency |
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Sinusitis, Severe periodontitis, Pneumonia, Osteomyelitis, Recurrent skin infections, Perianal ab... |
ORPHA:2968 |
Malakoplakia |
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Inflammatory abnormality of the skin, Skin rash, Pruritus, Orchitis, Urinary bladder inflammation |
ORPHA:556 |
Renpenning Syndrome 1 |
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Sparse hair, Brittle hair, Decreased testicular size, Sparse lateral eyebrow |
OMIM:309500 |
Trichorhinophalangeal Syndrome, Type Ii |
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Sparse scalp hair, Chronic gastritis, Bilateral cryptorchidism, Recurrent pneumonia, Fragile nail... |
OMIM:150230 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Vitreous hemorrhage |
ORPHA:91500 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
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Alopecia, Cryptorchidism, Loss of eyelashes, Thin eyebrow, Sparse hair |
ORPHA:2636 |
Refractory Celiac Disease |
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Inflammatory abnormality of the skin |
ORPHA:398063 |
Lipodystrophy, Familial Partial, Type 7 |
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Sparse hair, Sparse scalp hair, Recurrent pancreatitis |
OMIM:606721 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
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Inflammatory abnormality of the skin, Pneumonia |
ORPHA:26793 |
Trichinellosis |
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Retinal hemorrhage |
ORPHA:863 |
Sympathetic Ophthalmia |
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Alopecia, Retinal hemorrhage, Poliosis |
ORPHA:79098 |
Idiopathic Hypereosinophilic Syndrome |
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Inflammatory abnormality of the skin, Eczema, Cholangitis, Pruritus, Chronic hepatitis, Arthritis... |
ORPHA:3260 |
Wiedemann-Rautenstrauch Syndrome |
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Sparse scalp hair, Recurrent skin infections, Decreased response to growth hormone stimulation te... |
ORPHA:3455 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
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Inflammatory abnormality of the skin, Eczema, Hepatitis, Bronchiectasis, Enterocolitis, Thyroidit... |
ORPHA:391487 |
Igg4-Related Kidney Disease |
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Pericarditis, Inflammatory abnormality of the skin, Lymphadenitis, Urinary bladder inflammation, ... |
ORPHA:449395 |
Postinfectious Vasculitis |
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Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... |
ORPHA:48435 |
Wrinkly Skin Syndrome |
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Sparse hair, Cryptorchidism, Short nail, Fragile nails |
OMIM:278250 |
Cockayne Syndrome |
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Hypertension, Dry hair, Retinal hemorrhage, Fine hair |
ORPHA:191 |
Menke-Hennekam Syndrome 1 |
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Sparse hair, Cryptorchidism, Long eyelashes, Thick eyebrow |
OMIM:618332 |
Branchiooculofacial Syndrome |
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Supernumerary nipple, Cryptorchidism, Low posterior hairline, Premature graying of hair, White fo... |
OMIM:113620 |
Wrinkly Skin Syndrome |
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Sparse hair, Cryptorchidism |
ORPHA:2834 |
Pierson Syndrome |
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Hypertension, Retinal hemorrhage |
OMIM:609049 |
Primrose Syndrome |
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Sparse scalp hair, Absent facial hair, Bilateral cryptorchidism, Cryptorchidism, Synophrys, Absen... |
OMIM:259050 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
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Corneal neovascularization, Ischemic stroke, Retinal hemorrhage, Cerebral hemorrhage |
OMIM:175780 |
Generalized Arterial Calcification Of Infancy |
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Transient ischemic attack, Retinal hemorrhage, Hypertension, Weak pulse, Left ventricular systoli... |
ORPHA:51608 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
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Inflammatory abnormality of the skin, Pancreatitis |
ORPHA:565612 |
Pallister-Killian Syndrome |
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Sparse scalp hair, Alopecia, Sparse eyelashes, Supernumerary nipple, Sparse eyebrow, Sparse anter... |
OMIM:601803 |
Roberts-Sc Phocomelia Syndrome |
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Sparse hair, Cryptorchidism |
OMIM:268300 |