Hypotrichosis 9 |
|
Sparse scalp hair, Sparse body hair |
OMIM:614237 |
Hypotrichosis 1 |
|
Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... |
OMIM:605389 |
Hypotrichosis 15 |
|
Sparse scalp hair |
OMIM:620177 |
Hypotrichosis 2 |
|
Sparse scalp hair |
OMIM:146520 |
Hypotrichosis Simplex |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair |
ORPHA:55654 |
Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
Hypotrichosis 11 |
|
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... |
OMIM:615059 |
Hypotrichosis 10 |
|
Sparse eyebrow, Sparse eyelashes, Sparse body hair |
OMIM:614238 |
Atrichia With Papular Lesions |
|
Sparse hair |
OMIM:209500 |
Hypotrichosis 4 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair |
OMIM:146550 |
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis |
|
Sparse hair |
OMIM:246500 |
Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Abnormal hair morphology, Hyperkeratosis, Onychogryposis, Palmoplantar hyperkeratosis |
OMIM:617756 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse scalp hair, Alopecia, Sparse axillary hair, Pruritus, Sparse pubic hair, Perifollicular hy... |
ORPHA:505 |
Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyebrow morphology, Sparse scalp hair, Parakeratosis, Epidermal acanthosis, Allergic rhi... |
ORPHA:90368 |
Ichthyosis-Hypotrichosis Syndrome |
|
Sparse hair |
ORPHA:91132 |
Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
Ectodermal Dysplasia 4, Hair/Nail Type |
|
Absent eyebrow, Alopecia, Brittle hair, Hair-nail ectodermal dysplasia, Absent eyelashes, Onychol... |
OMIM:602032 |
Ectodermal Dysplasia 6, Hair/Nail Type |
|
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail |
OMIM:614928 |
Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Alopecia, Abnormal fingernail morphology, Sparse eyebrow, Hypoplastic toenails, Palmoplantar kera... |
ORPHA:2722 |
Witkop Syndrome |
|
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair |
OMIM:189500 |
Bathing Suit Ichthyosis |
|
Alopecia, Parakeratosis, Epidermal acanthosis, Thickened skin, Palmoplantar hyperkeratosis, Hypoh... |
ORPHA:100976 |
Insulin-Resistance Syndrome Type A |
|
Hyperkeratosis, Generalized hirsutism |
ORPHA:2297 |
Hypotrichosis 6 |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Erythema, Sparse hair, Pili torti |
OMIM:607903 |
Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa |
OMIM:616760 |
Hair Defect With Photosensitivity And Mental Retardation |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair, Cutaneous photosensitivity |
OMIM:234030 |
Erosive Pustular Dermatosis Of The Scalp |
|
Abnormal hair morphology, Scarring alopecia of scalp, Erythema |
ORPHA:222 |
Anonychia With Flexural Pigmentation |
|
Abnormal hair morphology, Hyperkeratosis, Alopecia of scalp, Follicular hyperkeratosis, Anonychia |
ORPHA:69125 |
Uncombable Hair Syndrome 3 |
|
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi |
OMIM:617252 |
Ectodermal Dysplasia 9, Hair/Nail Type |
|
Concave nail, Absent eyelashes, Nail dystrophy, Atrichia, Nail dysplasia, Sparse hair, Absent hair |
OMIM:614931 |
Peeling Skin Syndrome 3 |
|
Abnormal hair morphology, Erythema, White scaling skin |
OMIM:616265 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Alopecia, Scaling skin on fingertip, Parakeratosis, Epidermal acanthosis, Hypergranulosis, Palmop... |
ORPHA:79395 |
Alopecia Universalis Congenita |
|
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis |
OMIM:203655 |
Hidrotic Ectodermal Dysplasia |
|
Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p... |
ORPHA:189 |
Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Absent eyebrow, Anhidrosis, Absent eyelashes, Palmoplantar hyperkeratosis, Scaling skin, Nail dys... |
OMIM:604536 |
Quinquaud Folliculitis Decalvans |
|
Abnormal hair morphology, Scarring alopecia of scalp, Erythema, Patchy alopecia |
ORPHA:346 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Alopecia, Parakeratosis, Epidermal acanthosis, Flexion contracture, Palmoplantar hyperkeratosis, ... |
OMIM:242300 |
Alopecia Areata 2 |
|
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis |
OMIM:610753 |
Ichthyosis, Annular Epidermolytic, 1 |
|
Abnormal hair morphology, Hyperparakeratosis, Erythema, Palmoplantar hyperkeratosis, Congenital b... |
OMIM:607602 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Diffuse palmoplantar hyperkeratosis, Onychogryposis of toenails, Alopecia of scalp, Spa... |
OMIM:617294 |
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
|
Sparse hair, Reduced terminal:vellus ratio, Pili torti |
OMIM:601553 |
Alopecia, Familial Focal |
|
Patchy alopecia |
OMIM:104110 |
Pili Torti |
|
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... |
ORPHA:2889 |
Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
Kerion Celsi |
|
Alopecia, Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent ... |
ORPHA:499 |
Ringed Hair Disease |
|
Abnormal hair pattern, Fine hair |
ORPHA:169 |
Hypertrichosis Lanuginosa Congenita |
|
Congenital, generalized hypertrichosis, Double eyebrow |
OMIM:145700 |
Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:158000 |
Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Parakeratosis, Pruritus, Palmoplantar hyperkeratosis, Generalized reticulate brown pigmentation, ... |
ORPHA:158681 |
Osteopenia And Sparse Hair |
|
Sparse hair |
OMIM:259690 |
Alopecia-Intellectual Disability Syndrome 1 |
|
Alopecia, Alopecia universalis |
OMIM:203650 |
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Pruritus, Alopecia, Plantar hyperkeratosis, Nail dystrophy |
OMIM:616487 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Congenital alopecia totalis, Epidermal acanthosis, Sparse eyebrow, Absent pubic hair, Cutis laxa,... |
ORPHA:2269 |
Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
Candidiasis, Familial, 1 |
|
Alopecia, Chronic mucocutaneous candidiasis |
OMIM:114580 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow... |
OMIM:602540 |
Parana Hard Skin Syndrome |
|
Hyperkeratosis, Generalized hirsutism, Thickened skin |
ORPHA:2812 |
Erythrokeratodermia Variabilis Et Progressiva 2 |
|
Erythema, Hypertrichosis |
OMIM:617524 |
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia, Perifolliculitis, Alopecia of scalp |
OMIM:260910 |
Bazex Syndrome |
|
Parakeratosis, Pruritus, Yellow nails, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Na... |
ORPHA:166113 |
Ichthyosis With Confetti |
|
Pruritus, Palmoplantar hyperkeratosis, Ichthyosis, Hypoplastic nipples, Scaling skin, Erythroderm... |
OMIM:609165 |
Angioma Serpiginosum, X-Linked |
|
Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair |
OMIM:300652 |
Olmsted Syndrome 2 |
|
Parakeratosis, Epidermal acanthosis, Pruritus, Perioral hyperkeratosis, Cheilitis, Palmoplantar h... |
OMIM:619208 |
Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Alopecia totalis, Palmoplantar hyperkeratosis, Facial erythema, Hyperkeratosis, Nail dystrophy, N... |
OMIM:212360 |
Ichthyosis Hystrix Of Curth-Macklin |
|
Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Nail dystrophy, I... |
ORPHA:79503 |
Acrokeratosis Verruciformis |
|
Ridged nail, Epidermal acanthosis, Acrokeratosis, Punctate palmoplantar hyperkeratosis, Hyperkera... |
OMIM:101900 |
Netherton Syndrome |
|
Sparse scalp hair, Failure to thrive, Brittle hair, Recurrent skin infections, Allergic rhinitis,... |
OMIM:256500 |
Alopecia Areata 1 |
|
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis |
OMIM:104000 |
Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... |
ORPHA:573 |
Crandall Syndrome |
|
Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:202 |
Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Alopecia, Plantar hyperkeratosis, Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the... |
ORPHA:79397 |
Dissecting Cellulitis Of The Scalp |
|
Pruritus, Recurrent skin infections, Abnormal hair morphology |
ORPHA:345 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair, Palmoplantar er... |
OMIM:104100 |
Alopecia Universalis |
|
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis |
ORPHA:701 |
Ectodermal Dysplasia 7, Hair/Nail Type |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Hair-nail ectodermal dysplasia, Abno... |
OMIM:614929 |
Uncombable Hair Syndrome 2 |
|
Uncombable hair, Pili canaliculi |
OMIM:617251 |
Hypertrichosis, Anterior Cervical |
|
Anterior cervical hypertrichosis |
OMIM:600457 |
Hypertrichosis Universalis Congenita, Ambras Type |
|
Congenital, generalized hypertrichosis |
OMIM:145701 |
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type |
|
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo... |
ORPHA:1808 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Woolly hair, Palmoplantar keratoderma |
OMIM:610476 |
Krt1-Related Diffuse Nonepidermolytic Keratoderma |
|
Concave nail, Diffuse palmoplantar hyperkeratosis, Erythema, Nonepidermolytic palmoplantar hyperk... |
ORPHA:530838 |
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Ridged nail, Abnormal fingernail morphology, Hyperpigmentation of the skin, Pruritus, Palmoplanta... |
ORPHA:89838 |
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome |
|
Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the eyebrow, Abnormality of hair te... |
ORPHA:2891 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Parakeratosis, Pruritus, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Nail dy... |
OMIM:615821 |
Congenital Ichthyosiform Erythroderma |
|
Alopecia, Keratitis, Pruritus, Hypohidrosis, Ichthyosis, Palmoplantar keratoderma, Erythroderma, ... |
ORPHA:79394 |
Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Autoamputation of digits, Parakeratosis, Pruritus, Flexion contracture,... |
OMIM:614594 |
Hypotrichosis 7 |
|
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... |
OMIM:604379 |
Familial Reactive Perforating Collagenosis |
|
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Abnormal fingern... |
ORPHA:79147 |
Ichthyosis Prematurity Syndrome |
|
Epidermal acanthosis, Allergic rhinitis, Pruritus, Generalized ichthyosis, Follicular hyperkerato... |
OMIM:608649 |
Trichodental Dysplasia |
|
Sparse hair, Brittle hair, Slow-growing hair, Fine hair |
OMIM:601453 |
Peeling Skin Syndrome 4 |
|
Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Scaling skin, Ich... |
OMIM:607936 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Plantar hyperkeratosis, Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Pru... |
ORPHA:79399 |
Trichothiodystrophy 7, Nonphotosensitive |
|
Brittle hair, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkerat... |
OMIM:618546 |
Acrokeratoderma, Hereditary Papulotranslucent |
|
Fine hair |
OMIM:101840 |
Peeling Skin Syndrome 1 |
|
Brittle hair, Pruritus, Onycholysis, Nail dystrophy, Scaling skin, Erythroderma, Palmoplantar hyp... |
OMIM:270300 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Scarring, Pruritus, Increased circulating IgE level, Hyperkeratosis, Atrophic scars, Nail dystrop... |
ORPHA:89843 |
Keratosis, Focal Palmoplantar And Gingival |
|
Circumungual hyperkeratosis, Subungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re... |
OMIM:148730 |
Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Parakeratosis, Epidermal acanthosis, Alopecia totalis, Posterior blepha... |
OMIM:300918 |
Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Congenital onychodystrophy, Eczema, Absent eyelashes, Gen... |
ORPHA:2890 |
Lipoid Proteinosis Of Urbach And Wiethe |
|
Hyperkeratosis, Patchy alopecia, Reduced epidermal extracellular matrix protein 1 protein express... |
OMIM:247100 |
Ectodermal Dysplasia 13, Hair/Tooth Type |
|
Brittle hair, Sparse eyelashes, Low anterior hairline, Ectodermal dysplasia, Thin eyebrow |
OMIM:617392 |
Classic Mycosis Fungoides |
|
Alopecia, Skin rash, Eczema, Pruritus, Splenomegaly, Erythema, Hypopigmented skin patches, Skin u... |
ORPHA:2584 |
L-Ferritin Deficiency |
|
Alopecia |
OMIM:615604 |
Erythrokeratodermia Variabilis |
|
Alopecia, Skin rash, Hypermelanotic macule, Abnormal testis morphology, Tapered finger, Abnormal ... |
ORPHA:317 |
Aredyld |
|
Generalized hypotrichosis |
OMIM:207780 |
Lamellar Ichthyosis |
|
Pruritus, Lack of skin elasticity, Hyperkeratosis, Ichthyosis, Sparse hair, Erythroderma, Chronic... |
ORPHA:313 |
Clouston Syndrome |
|
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Ab... |
OMIM:129500 |
Moynahan Syndrome |
|
Sparse hair, Hyperkeratosis, Alopecia |
ORPHA:2574 |
Netherton Syndrome |
|
Sparse scalp hair, Skin rash, Eczema, Sparse eyelashes, Sparse eyebrow, Abnormal hair morphology,... |
ORPHA:634 |
Björnstad Syndrome |
|
Alopecia, Brittle hair |
ORPHA:123 |
Pili Torti, Early-Onset |
|
Dry hair, Brittle hair, Coarse hair, Hair shafts flattened at irregular intervals and twisted thr... |
OMIM:261900 |
Hypertrichosis, Congenital Generalized |
|
Congenital, generalized hypertrichosis, Hirsutism |
OMIM:307150 |
Parc Syndrome |
|
Absent eyelashes, Absent eyebrow, Alopecia |
OMIM:600331 |
Idiopathic Localized Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Lipoatrophy, Pruritus,... |
ORPHA:90158 |
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma |
|
Parakeratosis, Hyperconvex nail, Linear arrays of macular hyperkeratoses in flexural areas, Honey... |
OMIM:601952 |
Schopf-Schulz-Passarge Syndrome |
|
Ridged nail, Narrow nail, Thin nail, Poroma, Hyperkeratosis, Palmoplantar keratoderma, Onycholysi... |
OMIM:224750 |
Rothmund-Thomson Syndrome, Type 1 |
|
Absent eyebrow, Thin nail, Absent eyelashes, Hyperkeratosis, Sparse hair, Nail dystrophy, Recurre... |
OMIM:618625 |
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses |
|
Sparse eyebrow, Sparse scalp hair, Absent eyebrow, Sparse eyelashes |
OMIM:620199 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Failure to thrive, Eczema, Absent peripheral lymph nodes in presence of infection, Abnormal immun... |
ORPHA:98813 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Ridged nail, Nail pits, Congenital alopecia totalis |
ORPHA:169095 |
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Sparse scalp hair, Sparse eyelashes, Eczema, Slow-growing hair, Pruritus, Hypohidrosis, Palmoplan... |
OMIM:618535 |
Epidermolysis Bullosa Dystrophica, Pretibial |
|
Pruritus, Hyperkeratosis, Nail dystrophy |
OMIM:131850 |
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Sparse hair, Woolly hair |
OMIM:278200 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Alopecia, Parakeratosis, Epidermal acanthosis, Sparse eyelashes, Thick hair, Pruritus, Sparse eye... |
OMIM:607626 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Hypohidrosis, Fine hair, Abno... |
ORPHA:248 |
Sabinas Brittle Hair Syndrome |
|
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:211390 |
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Alopecia totalis |
ORPHA:1014 |
Carvajal Syndrome |
|
Woolly hair, Patchy palmoplantar hyperkeratosis |
ORPHA:65282 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Pruritus, Sparse eyebrow, Hypohidros... |
OMIM:602400 |
Sézary Syndrome |
|
Alopecia, Abnormal immunoglobulin level, Pruritus, Splenomegaly, Lymphadenopathy, Palmoplantar ke... |
ORPHA:3162 |
Thumb Deformity And Alopecia |
|
Alopecia |
OMIM:188150 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Sparse scalp hair, Abnormal eyelash morphology, Periodontitis, Sparse body hair, Alopecia univers... |
ORPHA:1008 |
Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Epidermal acanthosis, Angular cheilitis, Acantholysis, Pruritus, Punctate palmoplantar hyperkerat... |
OMIM:616295 |
Ectodermal Dysplasia 5, Hair/Nail Type |
|
Sparse scalp hair, Dystrophic fingernails, Absent toenail |
OMIM:614927 |
Ulerythema Ophryogenesis |
|
Acne, Facial erythema, Hyperkeratotic papule, Follicular hyperkeratosis, Dry skin, Contact dermat... |
ORPHA:3406 |
Hypotrichosis 13 |
|
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology |
OMIM:615896 |
Palmoplantar Keratoderma And Woolly Hair |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Palmoplantar keratoderma, Wooll... |
OMIM:616099 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... |
OMIM:225060 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Alopecia, Sparse eyelashes, Acantholysis, Sparse eyebrow, Woolly hair, Palmoplantar hyperkeratosi... |
OMIM:605676 |
Psoriasis 14, Pustular |
|
Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Cholangitis, Pustule, Erythema, Oli... |
OMIM:614204 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Anhidrosis, Alopecia, Epidermal acanthosis, Thin nail, Hypergranulosis, Abnormal hair morphology,... |
OMIM:242100 |
Bjornstad Syndrome |
|
Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t... |
OMIM:262000 |
Tooth Agenesis, Selective, 8 |
|
Sparse eyebrow, Sparse hair |
OMIM:617073 |
Naxos Disease |
|
Sparse scalp hair, Curly hair, Abnormality of hair texture, Hyperhidrosis, Palmoplantar keratoder... |
ORPHA:34217 |
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Epidermal acanthosis, Hypergranulosis, Yellow nails, Palmoplantar hyperkeratosis, Hyperhidrosis, ... |
OMIM:148700 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Sparse scalp hair, Sparse eyelashes, Epidermal acanthosis, Angular cheilitis, Sparse axillary hai... |
OMIM:613102 |
Centrifugal Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Alopecia, Inflammatory abnormality of the skin, Lipoatrophy,... |
ORPHA:90156 |
Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Eczema, Pruritus, Pustule, Thickened skin, Ichthyosis, Palmoplantar ker... |
ORPHA:2897 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Alopecia, Palmoplantar keratoderma, Fingernail dysplasia, Sparse hair, Onychogryposis of fingerna... |
ORPHA:2251 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Hyperhidrosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ichthyosif... |
OMIM:613576 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Chronic oral candidiasis, Psoriasiform dermatitis, Failure to thrive in infancy, Decreased lympho... |
OMIM:606367 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Sparse scalp hair, Brittle hair, Pili torti, Fine hair |
ORPHA:1573 |
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Hypohidrosis, Sparse... |
OMIM:129490 |
Hypotrichosis 14 |
|
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair |
OMIM:618275 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, A... |
OMIM:615508 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Increased body weight, Facial ery... |
ORPHA:64745 |
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
|
Sparse hair, Widow's peak, Atopic dermatitis, Thick eyebrow |
OMIM:606242 |
Vulvovaginal Gingival Syndrome |
|
Ridged nail, Parakeratosis, Epidermal acanthosis, Pruritus, Erythema, Abnormality of tumor necros... |
ORPHA:83453 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Alopecia, Osteomyelitis, Recurrent skin infections, Eczema, Pruritus, Increased circulating IgE l... |
OMIM:618282 |
Keratosis Pilaris Atrophicans |
|
Absent eyelashes, Erythema, Sparse eyebrow |
OMIM:604093 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... |
OMIM:613573 |
Bullous Dystrophy, Hereditary Macular Type |
|
Alopecia totalis, Abnormality of the nail |
OMIM:302000 |
Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin, Congenital nonbu... |
OMIM:617571 |
Progeroid Syndrome, Petty Type |
|
Reduced subcutaneous adipose tissue, Brittle hair, Prematurely aged appearance, Redundant skin, A... |
ORPHA:2963 |
Palmoplantar Keratoderma, Nagashima Type |
|
Epidermal acanthosis, Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis... |
OMIM:615598 |
Keratoderma Hereditarium Mutilans |
|
Alopecia, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Ichthyosis, Abnormal toenail mor... |
ORPHA:494 |
Trichothiodystrophy 1, Photosensitive |
|
Brittle hair, Flexion contracture, Sparse hair, Tiger tail banding, Decreased circulating IgG lev... |
OMIM:601675 |
Epidermolytic Palmoplantar Keratoderma |
|
Epidermal acanthosis, Abnormal fingernail morphology, Hypergranulosis, Epidermal hyperkeratosis, ... |
ORPHA:2199 |
Alopecia-Intellectual Disability Syndrome 4 |
|
Ichthyosis, Alopecia, Erythroderma |
OMIM:618840 |
Mastocytosis, Cutaneous |
|
Urticaria, Erythema, Edema, Telangiectasia macularis eruptiva perstans |
OMIM:154800 |
Acrokeratosis Verruciformis Of Hopf |
|
Parakeratosis, Epidermal acanthosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperke... |
ORPHA:79151 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Alopecia, Dry skin, Palmoplantar keratoderma, Scaling skin, Nail dystrophy, Alopecia of scalp |
OMIM:618373 |
Vibratory Urticaria |
|
Urticaria, Facial erythema, Flushing |
OMIM:125630 |
Complex Regional Pain Syndrome |
|
Abnormality of hair growth, Edema of the upper limbs, Slow-growing nails, Erythema, Pedal edema, ... |
ORPHA:83452 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Sparse hair, Coarse hair, Brittle hair, Hidrotic ectodermal dysplasia |
ORPHA:1883 |
Flynn-Aird Syndrome |
|
Hyperkeratosis, Alopecia, Alopecia of scalp |
OMIM:136300 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Fragile nails, Fine hair |
ORPHA:500166 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Parakeratosis, Epidermal acanthosis, Ectodermal dysplasia, Palmoplantar keratoderma, Nail dystrop... |
OMIM:615225 |
Porokeratosis Plantaris Palmaris Et Disseminata |
|
Porokeratosis, Pruritus, Palmoplantar hyperkeratosis, Hyperkeratotic papule, Generalized abnormal... |
ORPHA:737 |
Trichothiodystrophy 6, Nonphotosensitive |
|
Tiger tail banding, Brittle hair, Slow-growing hair, Dry skin |
OMIM:616943 |
Kid Syndrome |
|
Angular cheilitis, Posterior blepharitis, Scarring alopecia of scalp, Recurrent cutaneous fungal ... |
ORPHA:477 |
Acrogeria |
|
Lipoatrophy, Prematurely aged appearance, Telangiectasia of the skin, Small hand, Skin ulcer, Fin... |
ORPHA:2500 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Brittle hair, Slow-growing hair, Cutis marmorata, Progeroid facial appearance, Sparse eyebrow, Re... |
OMIM:300953 |
Lichen Planopilaris |
|
Alopecia, Abnormal fingernail morphology, Pruritus, Hepatitis, Skin ulcer, Hyperkeratosis, Onycho... |
ORPHA:525 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sclerodactyly, Sparse eyebrow, ... |
ORPHA:1010 |
Verrucous Hemangioma |
|
Inflammatory abnormality of the skin, Hyperkeratotic papule, Epidermal acanthosis |
ORPHA:464318 |
Cervical Hypertrichosis With Underlying Kyphoscoliosis |
|
Anterior cervical hypertrichosis, Sacral hypertrichosis, Lumbar hypertrichosis, Thoracic hypertri... |
OMIM:117850 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Alopecia, Sparse eyelashes, Keratitis, Scarring alopecia of scalp, Sparse eyebrow, Facial erythem... |
OMIM:612843 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Parakeratosis, Epidermal acanthosis, Hypohidrosis, Hyperkeratosis, Palmoplantar keratoderma, Scal... |
OMIM:612281 |
Hidrotic Ectodermal Dysplasia, Halal Type |
|
Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e... |
ORPHA:1809 |
Cutaneous Mastocytoma |
|
Maculopapular exanthema, Telangiectasia of the skin, Hypermelanotic macule, Pruritus, Thickened s... |
ORPHA:79455 |
Porokeratosis 3, Multiple Types |
|
Parakeratosis, Porokeratosis, Nail dystrophy |
OMIM:175900 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Ridged nail, Alopecia, Nail dystrophy, Nail pits |
OMIM:601705 |
Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Sparse hair |
ORPHA:401911 |
Odontoonychodermal Dysplasia |
|
Ridged nail, Dry hair, Palmoplantar hyperkeratosis, Hyperhidrosis, Dystrophic fingernails, Thin n... |
OMIM:257980 |
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Abnormal fingernail morphology, Eczema, Hypohidrosis, Thin skin, Sparse hair, Sparse body hair |
ORPHA:1810 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Alopecia, Psoriasiform lesion, Increased circulating IgA level, Increased circulating IgE level, ... |
ORPHA:169154 |
Erythrokeratodermia Variabilis Et Progressiva 7 |
|
Woolly hair, Anhidrosis, Dystrophic toenail, Palmoplantar hyperkeratosis |
OMIM:619209 |
Pseudopelade Of Brocq |
|
Sparse scalp hair, Alopecia, Recurrent skin infections, Abnormal hair morphology, Cheilitis, Abno... |
ORPHA:129 |
Aquagenic Palmoplantar Keratoderma |
|
Abnormal phalangeal joint morphology of the hand, Excessive skin wrinkling on dorsum of hands and... |
ORPHA:498359 |
Porphyria Cutanea Tarda |
|
Facial hypertrichosis, Scleroderma, Alopecia, Onycholysis |
OMIM:176100 |
Marie Unna Hereditary Hypotrichosis |
|
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... |
ORPHA:444 |
Hypotrichosis 12 |
|
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... |
OMIM:615885 |
Basan Syndrome |
|
Palmoplantar keratoderma, Epidermal acanthosis, Nail dystrophy, Palmoplantar hypohidrosis |
OMIM:129200 |
Ichthyosis Hystrix, Curth-Macklin Type |
|
Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin |
OMIM:146590 |
Schöpf-Schulz-Passarge Syndrome |
|
Sparse hair, Alopecia, Palmoplantar keratoderma, Aplasia/Hypoplasia of the eyebrow |
ORPHA:50944 |
Dermoodontodysplasia |
|
Sparse scalp hair, Hypohidrosis, Thin skin, Fingernail dysplasia, Trichodysplasia, Dry skin, Toen... |
ORPHA:1660 |
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Brittle hair, Absent nipple, Hypohidrotic ectodermal dysplasia, Sparse hair, Dry skin, Absent hair |
OMIM:614940 |
Psoriasis 2 |
|
Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Hyperkeratosis, Scaling skin |
OMIM:602723 |
Woolly Hair, Autosomal Dominant |
|
Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Palmoplant... |
OMIM:194300 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Plantar hyperkeratosis, Patchy alopecia, Nail dystrophy, Fragile nails, Palmar hyperhidrosis |
OMIM:226650 |
Trichothiodystrophy 9, Nonphotosensitive |
|
Sparse eyebrow, Nail dystrophy, Ichthyosis, Sparse hair, Tiger tail banding |
OMIM:619692 |
Bazex-Dupre-Christol Syndrome |
|
Eczema, Trichorrhexis nodosa, Atopic dermatitis, Hypohidrosis, Coarse hair, Sparse hair, Trichoep... |
OMIM:301845 |
Pachyonychia Congenita 2 |
|
Sparse scalp hair, Dry hair, Subungual hyperkeratosis, Angular cheilitis, Sparse eyebrow, Palmopl... |
OMIM:167210 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Ichthyosis, ... |
ORPHA:35173 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl... |
ORPHA:284426 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Recurrent skin infections, Pruritus, Recurrent pneumonia, Cheilitis, Hypohidrosis, P... |
ORPHA:158668 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Hypohidrosis, Dystrophic fingernails, Dys... |
ORPHA:1882 |
Ectodermal Dysplasia, Trichoodontoonychial Type |
|
Abnormal eyelash morphology, Sparse hair, Abnormal toenail morphology, Sparse body hair, Aplasia/... |
ORPHA:1818 |
Acral Peeling Skin Syndrome |
|
Eczema, Erythema, Scaling skin, Ichthyosis, Hyperpigmentation of the skin, Excessive wrinkling of... |
ORPHA:263534 |
Darier Disease |
|
Acrokeratosis, Pruritus, Abnormal hair morphology, Thickened skin, Palmoplantar keratoderma, Skin... |
ORPHA:218 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Subungual hyperkeratosis, Eczema, Trichorrhexis nodosa, Scarring alopecia of scalp, Hypoplastic s... |
OMIM:617337 |
Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections |
OMIM:244850 |
Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Recurrent loss of toenails and fingernails, Erythema, Telangiectasia, Thin skin, Cutaneous photos... |
ORPHA:158673 |
Cortisone Reductase Deficiency 1 |
|
Alopecia, Acne, Hirsutism |
OMIM:604931 |
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Alopecia totalis, Nail dystrophy, Palmoplantar keratoderma, Lack of skin elasticity |
ORPHA:1366 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Epidermal acanthosis, Pustule, Increased circulating IgE level, Recurrent pneumonia, Long eyelash... |
OMIM:616069 |
Idiopathic Trachyonychia |
|
Ridged nail, Thin nail, Concave nail, Atopic dermatitis, Nail pits, Patchy alopecia, Nail dystrop... |
ORPHA:79153 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Scarring alopecia of scalp, Palmoplantar keratoderma, Nail dystrophy, Anonychia, Sparse body hair |
ORPHA:79402 |
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Sparse hair, Fine hair |
ORPHA:1174 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Alopecia, Ichthyosis, Palmoplantar keratoderma, Conjunctivitis, Erythroderma, Sparse hair, Fragil... |
OMIM:242150 |
Hypotrichosis-Intellectual Disability, Lopes Type |
|
Sparse hair |
ORPHA:2266 |
Hyperkeratosis-Hyperpigmentation Syndrome |
|
Multiple cafe-au-lait spots, Hyperkeratosis, Irregular hyperpigmentation, Cutaneous photosensitivity |
ORPHA:1336 |
Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Ichthyosis |
OMIM:617574 |
Trichohepatoenteric Syndrome 2 |
|
Brittle hair, Uncombable hair, Sparse hair, Woolly hair, Trichorrhexis nodosa |
OMIM:614602 |
Porokeratosis Of Mibelli |
|
Pruritus, Hyperkeratosis, Cutaneous photosensitivity, Porokeratosis |
ORPHA:735 |
Pachyonychia Congenita |
|
Alopecia, Angular cheilitis, Paronychia, Onychogryposis of toenails, Linear arrays of macular hyp... |
ORPHA:2309 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Abnormal fingernail morphology, Hypoplastic toenails, Hypohidrosis, Fine hair, Hyperkeratosis, On... |
ORPHA:1028 |
Oliver-Mcfarlane Syndrome |
|
Sparse hair, Alopecia, Long eyelashes, Long eyebrows |
OMIM:275400 |
Omenn Syndrome |
|
Alopecia, Failure to thrive, Pneumonia, Pruritus, Thickened skin, Short toe, Splenomegaly, Thyroi... |
ORPHA:39041 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Hypohidrosis, Nail dysplasia, Erysipelas |
OMIM:615704 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 |
|
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ... |
OMIM:613000 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Parakeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosifor... |
OMIM:604777 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Sparse eyelashes, Keratitis, Scarring alopecia of scalp, Sparse eyebrow, Facial erythema, Follicu... |
OMIM:308800 |
Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Epidermal acanthosis, Hypergranulosis, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar kerato... |
OMIM:617525 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Nail dystrophy, Small ... |
OMIM:234050 |
Peeling Skin Syndrome 5 |
|
Hyperkeratosis, Epidermal acanthosis, Scaling skin |
OMIM:617115 |
Pseudoprogeria Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Thin skin, Sparse hair |
ORPHA:2985 |
Trichodysplasia-Amelogenesis Imperfecta Syndrome |
|
Alopecia of scalp, Trichodysplasia |
ORPHA:79129 |
Epidermolytic Hyperkeratosis 1 |
|
Epidermal acanthosis, Erythroderma, Palmoplantar hyperkeratosis, Scaling skin, Congenital bullous... |
OMIM:113800 |
Ichthyosis, Lamellar, Autosomal Dominant |
|
Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma |
OMIM:146750 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati... |
OMIM:618944 |
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Hyperkeratosis, Epidermal acanthosis |
OMIM:615028 |
Angioma Serpiginosum |
|
Erythema, Vascular skin abnormality |
ORPHA:95429 |
Peeling Skin Syndrome 6 |
|
Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin |
OMIM:618084 |
Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Sinusitis, Slow-growing hair, Eczema, Hypohidrosis, Aplasia/Hypoplasia of... |
ORPHA:238468 |
Acral Self-Healing Collodion Baby |
|
Edema of the dorsum of feet, Edema of the dorsum of hands, Erythema, Lack of skin elasticity, Pal... |
ORPHA:281127 |
Cardiofaciocutaneous Syndrome 3 |
|
Hyperkeratosis, Curly hair, Hyperhidrosis, Webbed neck |
OMIM:615279 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fingernail dys... |
ORPHA:2325 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Thin toenail, Ridged fingernail,... |
ORPHA:2228 |
Hereditary Mucoepithelial Dysplasia |
|
Sparse hair, Hyperkeratosis, Alopecia, Fine hair |
ORPHA:1839 |
Trichothiodystrophy 2, Photosensitive |
|
Coarse hair, Tiger tail banding, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis |
OMIM:616390 |
Immunodeficiency 58 |
|
Colitis, Scaling skin, Chronic otitis media, Recurrent cutaneous abscess formation, Psoriasiform ... |
OMIM:618131 |
Alopecia-Intellectual Disability Syndrome |
|
Sparse scalp hair, Alopecia, Ichthyosis, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:2850 |
Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Plantar hyperkeratosis, Increased circulating IgE level, Palmoplantar hyperkeratosis, Palmar hype... |
OMIM:144200 |
Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General... |
OMIM:615024 |
Epidermolytic Hyperkeratosis 2 |
|
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... |
OMIM:620150 |
Hypotrichosis 5 |
|
Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs... |
OMIM:612841 |
Leopard Syndrome 3 |
|
Curly hair, Epidermal hyperkeratosis, Low posterior hairline, Hyperkeratosis, Webbed neck, Dry skin |
OMIM:613707 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Tongue edema, Palpebral edema, Pharyngeal edema, Facial edema, Laryngeal edema, Angioedema, Eryth... |
ORPHA:100057 |
Nicolaides-Baraitser Syndrome |
|
Alopecia, Sandal gap, Eczema, Highly arched eyebrow, Curly eyelashes, Abnormal hair pattern, Cryp... |
ORPHA:3051 |
Mal De Meleda |
|
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Ep... |
ORPHA:87503 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Osteomyelitis, Skin rash, Eczema, Pruritus, Abnormal hair morphology, Paronychia, Increased circu... |
ORPHA:2314 |
Congenital Panfollicular Nevus |
|
Pruritus, Hyperkeratosis |
ORPHA:139414 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Anhidrosis, Alopecia, Abnormal fingernail morphology, Thickened skin, Erythema, Skin ulcer, Palmo... |
ORPHA:659 |
Lupus Erythematosus Tumidus |
|
Deep dermal perivascular inflammatory infiltrate, Scarring, Depigmentation/hyperpigmentation of s... |
ORPHA:90283 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Woolly hair, Palmoplantar keratoderma |
OMIM:611528 |
Focal Palmoplantar And Gingival Keratoderma |
|
Subungual hyperkeratosis, Abnormal fingernail morphology, Focal friction-related palmoplantar hyp... |
ORPHA:2200 |
Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate |
OMIM:618531 |
Orthostatic Hypotensive Disorder, Streeten Type |
|
Bruising susceptibility, Facial erythema |
OMIM:143850 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Skin ulcer, Weight loss, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmoplan... |
ORPHA:312 |
Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Alopecia, Brittle hair |
ORPHA:50812 |
Syndromic X-Linked Intellectual Disability 7 |
|
Sparse body hair |
ORPHA:85274 |
Infantile Digital Fibromatosis |
|
Hyperkeratosis, Parakeratosis, Epidermal acanthosis |
ORPHA:199267 |
Cutaneous Collagenous Vasculopathy |
|
Prominent superficial blood vessels, Erythema, Diffuse telangiectasia, Bruising susceptibility, V... |
ORPHA:280779 |
Diffuse Cutaneous Mastocytosis |
|
Mixed hypo- and hyperpigmentation of the skin, Pruritus, Thickened skin, Abnormality of the splee... |
ORPHA:79456 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Sparse hair, Alopecia, Long eyelashes |
ORPHA:3363 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Eczema, Cutis laxa, Hyperkeratosis, Ichthyosis, Dry skin, Hypertrichosis |
OMIM:612379 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Alopecia totalis, Acantholysis, Absent fingernail, Anonychia, Alopecia universalis |
OMIM:609638 |
Menkes Disease |
|
Sparse hair, Alopecia, Brittle hair, Cutis laxa |
OMIM:309400 |
Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Epidermal acanthosis, Hypergranulosis, Patchy palmoplantar hyperkeratosis, Erythroderma, Generali... |
OMIM:133200 |
Prolidase Deficiency |
|
Abnormality of retinal pigmentation, Arachnodactyly, Abnormal fingernail morphology, Pruritus, Sp... |
ORPHA:742 |
Dowling-Degos Disease 2 |
|
Reticular hyperpigmentation, Hyperkeratotic papule, Hypomelanotic macule, Follicular hyperkeratosis |
OMIM:615327 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
2-5 finger syndactyly, Parakeratosis, Absent middle phalanx of 3rd finger, Flexion contracture, C... |
OMIM:308050 |
Focal Facial Dermal Dysplasia Type I |
|
Absent eyelashes, Low anterior hairline, Sparse hair, Distichiasis, Sparse lateral eyebrow |
ORPHA:79133 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Abnormal fingernail morphology, Skin ulcer, Fine hair, Hypohidrosis, Hyperkeratosis, Keratoconjun... |
ORPHA:1806 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Atrophic gastritis, Alopecia, Recurrent skin infections, Recurrent pneumonia, Pyoderma gangrenosu... |
OMIM:616576 |
Hawkinsinuria |
|
Sparse hair, Fine hair |
ORPHA:2118 |
Choroidal Atrophy-Alopecia Syndrome |
|
Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye... |
ORPHA:1433 |
Bazex-Dupré-Christol Syndrome |
|
Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor... |
ORPHA:113 |
Keratosis Palmoplantaris Striata Ii |
|
Palmoplantar keratoderma, Epidermal acanthosis |
OMIM:612908 |
Copper Deficiency, Familial Benign |
|
Curly hair, Early balding, Seborrheic dermatitis |
OMIM:121270 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Erythema, Sca... |
ORPHA:294023 |
Focal Facial Dermal Dysplasia 3, Setleis Type |
|
Sparse hair, Distichiasis, Low anterior hairline, Absent lower eyelashes |
OMIM:227260 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia, Glomerulonephritis, Eczema, Increased circulating IgE level, Hepatitis, Lymphadenopathy... |
OMIM:304790 |
Noonan Syndrome 8 |
|
Curly hair, Eczema, Large for gestational age, Cryptorchidism, Hyperkeratosis, Webbed neck, Palmo... |
OMIM:615355 |
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation |
|
Alopecia, Ichthyosis |
OMIM:242510 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Alopecia, Sinusitis, Osteomyelitis, Skin rash, Abnormality... |
ORPHA:47 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Perianal erythema, Pustule, Paronychia, Increased circulating IgE level, Perioral erythema, Eryth... |
OMIM:614328 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Skin rash, Cutis marmorata, Discoid lupus rash, Skin ulcer,... |
ORPHA:90280 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Lymphadenopathy, He... |
OMIM:618982 |
Porphyria Cutanea Tarda |
|
Recurrent bacterial skin infections, Viral hepatitis, Hyperpigmentation of the skin, Scarring, Po... |
ORPHA:101330 |
Trichothiodystrophy 8, Nonphotosensitive |
|
Eczema, Sparse eyebrow, Cutis laxa, Sparse hair, Woolly hair, Trichorrhexis nodosa |
OMIM:619691 |
Naxos Disease |
|
Curly hair, Subungual hyperkeratosis, Epidermal acanthosis, Acantholysis, Sparse eyebrow, Diffuse... |
OMIM:601214 |
Congenital Disorder Of Glycosylation, Type Im |
|
Alopecia, Inflammatory abnormality of the skin, Sparse eyelashes, Sparse eyebrow, Hyperkeratosis,... |
OMIM:610768 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Sinusitis, Absence of lymph node germinal center, Increased... |
ORPHA:277 |
Ichthyosis, Congenital, Autosomal Recessive 7 |
|
Epidermal acanthosis, Hypergranulosis, Erythroderma, Palmoplantar keratoderma, Ichthyosis |
OMIM:615022 |
Epidermolysis Bullosa Simplex 1C, Localized |
|
Hyperkeratosis |
OMIM:131800 |
Pemphigus Foliaceus |
|
Psoriasiform dermatitis, Acantholysis, Pruritus, Pustule, Crusting erythematous dermatitis, Eryth... |
ORPHA:79481 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Alopecia, Coarse hair, Brittle hair, Nail dystrophy |
ORPHA:75389 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Early cutaneous photosensitivity, Erythema |
OMIM:219095 |
Jessner Lymphocytic Infiltration Of The Skin |
|
Cutaneous photosensitivity, Erythema |
ORPHA:33314 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Thickened skin, Fine hair, Ichthyosis, Aca... |
ORPHA:2221 |
Atrophoderma Vermiculata |
|
Pruritus, Abnormal epidermal morphology, Erythema, Atrophic scars, Follicular hyperkeratosis, Hyp... |
ORPHA:79100 |
Rhizomelic Chondrodysplasia Punctata |
|
Alopecia, Dry skin, Sparse body hair, Ichthyosis |
ORPHA:177 |
Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Epidermal acanthosis, Hypergranulosis, Hypohidrosis, Hyperkeratosis, Congenital nonbullous ichthy... |
OMIM:615023 |
Dowling-Degos Disease 4 |
|
Pruritus, Epidermal acanthosis, Hypergranulosis |
OMIM:615696 |
Recon Progeroid Syndrome |
|
Arachnodactyly, Proximal placement of thumb, Progeroid facial appearance, Hyperconvex thumb nails... |
OMIM:620370 |
Fibrodysplasia Ossificans Progressiva |
|
Alopecia |
ORPHA:337 |
Dermoodontodysplasia |
|
Dry skin, Thin skin, Nail dysplasia, Trichodysplasia |
OMIM:125640 |
Ramon Syndrome |
|
Hyperkeratosis, Generalized hirsutism |
ORPHA:3019 |
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis |
ORPHA:86923 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Tubulointerstitial nephritis, Colitis, Alopecia, Psoriasiform dermatitis, Hepatitis, Ly... |
ORPHA:37042 |
Ichthyosis, Annular Epidermolytic, 2 |
|
Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthok... |
OMIM:620148 |
Palmoplantar Keratoderma, Punctate Type Iii |
|
Hyperkeratosis, Acrokeratosis |
OMIM:101850 |
Glycosylphosphatidylinositol Biosynthesis Defect 25 |
|
Sparse hair, Coarse hair |
OMIM:619985 |
Lipoid Proteinosis |
|
Acne, Pustule, Thickened skin, Hyperkeratosis, Alopecia of scalp |
ORPHA:530 |
Dermatoleukodystrophy |
|
Hyperkeratosis, Thickened skin |
ORPHA:1659 |
Progressive Symmetric Erythrokeratodermia |
|
Erythema |
ORPHA:316 |
Chromomycosis |
|
Keratitis, Pruritus, Hyperparakeratosis, Hypopigmented skin patches, Atypical scarring of skin, H... |
ORPHA:182 |
Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis |
OMIM:173200 |
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Inguinal hernia, Erythema, Hyperkeratosis, Scaling skin, Congenital nonbullous ichthyosiform eryt... |
OMIM:614457 |
Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Epidermal acanthosis, Erythema, Palmoplantar hyperkeratosis, Hyperkeratosis, Congenital nonbullou... |
OMIM:617526 |
Nicolaides-Baraitser Syndrome |
|
Dry hair, Low anterior hairline, Short metatarsal, Prominent interphalangeal joints, Sparse hair,... |
OMIM:601358 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Small for gestational age, Eczema, Failure to thrive in infancy, Increased circulating IgE level,... |
OMIM:617241 |
Linear Atrophoderma Of Moulin |
|
Pruritus, Scleroderma, Inflammatory abnormality of the skin, Linear hyperpigmentation |
ORPHA:140933 |
Palmoplantar Keratoderma-Deafness Syndrome |
|
Hyperkeratosis, Palmoplantar keratoderma |
ORPHA:2202 |
Cardiofaciocutaneous Syndrome 2 |
|
Sparse hair, Curly hair, Absent eyebrow, Fine hair |
OMIM:615278 |
Lelis Syndrome |
|
Yellow nails, Acanthosis nigricans, Absent lower eyelashes, Palmoplantar hyperkeratosis, Hypohidr... |
ORPHA:140936 |
Dermatoleukodystrophy |
|
Large hands, Thickened skin, Premature skin wrinkling, Progeroid facial appearance |
OMIM:221790 |
Ichthyosis Hystrix, Lambert Type |
|
Hyperkeratosis, Orthokeratotic hyperkeratosis |
OMIM:146600 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... |
ORPHA:79414 |
Congenital Disorder Of Glycosylation, Type If |
|
Flexion contracture, Dry skin, Hyperkeratosis, Scaling skin, Erythroderma, Failure to thrive |
OMIM:609180 |
Acquired Ichthyosis |
|
Recurrent skin infections, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyos... |
ORPHA:454 |
Systemic Lupus Erythematosus 17 |
|
Alopecia, Malar rash, Optic neuritis, Myelitis |
OMIM:301080 |
Neonatal Lupus Erythematosus |
|
Parakeratosis, Skin rash, Maculopapular exanthema, Splenomegaly, Malar rash, Hyperkeratosis, Cuta... |
ORPHA:398124 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Brittle hair, Redundant skin, Abnormality of hair texture, Cutis laxa, Excessive wrinkled skin, C... |
OMIM:219200 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Anonychia |
OMIM:616029 |
Erythrokeratoderma ''En Cocardes'' |
|
Abnormality of skin pigmentation, Hyperkeratosis |
ORPHA:315 |
Keratolytic Winter Erythema |
|
Erythema |
OMIM:148370 |
Uncombable Hair Syndrome 1 |
|
Uncombable hair, Dry hair, Pili canaliculi |
OMIM:191480 |
Aicardi-Goutieres Syndrome 5 |
|
Chilblains, Flexion contracture, Increased circulating interferon-gamma concentration, Scaling sk... |
OMIM:612952 |
Mal De Meleda |
|
Perioral erythema, Fragile nails |
OMIM:248300 |
Panniculitis-Induced Localized Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Erythema, Vasculitis in the skin |
ORPHA:90159 |
Erythema Of Acral Regions |
|
Erythema |
OMIM:227000 |
Elastoderma |
|
Premature skin wrinkling, Erysipelas, Eczema, Cutis laxa |
ORPHA:228240 |
Dermatopathia Pigmentosa Reticularis |
|
Alopecia of scalp, Nail dystrophy, Palmoplantar hyperkeratosis, Hypohidrosis |
OMIM:125595 |
Acute Generalized Exanthematous Pustulosis |
|
Predominantly dermal neutrophilic infiltrate, Acantholysis, Pruritus, Pustule, Cheilitis, Lymphad... |
ORPHA:293173 |
Erythema Palmare Hereditarium |
|
Erythema |
OMIM:133000 |
Benign Chronic Pemphigus |
|
Erythema |
OMIM:169600 |
Epidermolysis Bullosa Simplex 2E, With Migratory Circinate Erythema |
|
Erythema migrans |
OMIM:609352 |
Annular Erythema |
|
Erythema |
OMIM:106500 |
Rapp-Hodgkin Syndrome |
|
Decreased number of sweat glands, Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Spar... |
OMIM:129400 |
Erythema Nodosum, Familial |
|
Erythema |
OMIM:132990 |
Alopecia Antibody Deficiency |
|
Abnormal eyelash morphology, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse body hair |
ORPHA:1006 |
Cutaneous Small Vessel Vasculitis |
|
Urticaria, Erythema, Cutis marmorata, Purpura |
ORPHA:889 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Brittle hair, Highly arched eyebrow, Synophrys, Long eyelashes, Thick eyebrow |
OMIM:617412 |
Ifap Syndrome 2 |
|
Ichthyosis follicularis, Angular cheilitis, Keratitis, Posterior blepharitis, Keratoconjunctiviti... |
OMIM:619016 |
Trichothiodystrophy 3, Photosensitive |
|
Tiger tail banding, Brittle hair, Cutaneous photosensitivity, Trichorrhexis nodosa |
OMIM:616395 |
Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Abnormal hair quantity, Lipoatrophy, Prematurely aged appearance, Cryptorchidism, Dry skin, Low p... |
ORPHA:2617 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Skin rash, Increased circulating IgE level, Recurrent pneumonia, Erythema, Chronic mucocutaneous ... |
OMIM:147060 |
Pressure-Induced Localized Lipoatrophy |
|
Reduced subcutaneous adipose tissue, Erythema |
ORPHA:90160 |
Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
Xq27.3Q28 Duplication Syndrome |
|
Sparse body hair |
ORPHA:261483 |
White Sponge Nevus 2 |
|
Hyperparakeratosis, Epidermal acanthosis |
OMIM:615785 |
Heyn-Sproul-Jackson Syndrome |
|
Sparse hair |
OMIM:618724 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, Splenomegaly, I... |
OMIM:602450 |
Chronic Actinic Dermatitis |
|
Late onset atopic dermatitis, Progressive hyperpigmentation, Epidermal acanthosis, Eczema, Allerg... |
ORPHA:330064 |
Dowling-Degos Disease |
|
Inguinal freckling, Abnormal fingernail morphology, Mixed hypo- and hyperpigmentation of the skin... |
ORPHA:79145 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Alopecia, Generalized lymphadenopathy, Reduced natural killer cell activity, Follicular hyperplas... |
OMIM:615559 |
Proteus Syndrome |
|
Epidermal acanthosis, Splenomegaly, Depigmentation/hyperpigmentation of skin, Multiple lipomas, H... |
OMIM:176920 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Alopecia |
OMIM:203550 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Sparse hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Hypohidrosis |
ORPHA:181 |
Non-Epidermolytic Palmoplantar Keratoderma |
|
Erythema, Skin ulcer |
ORPHA:2337 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Parakeratosis, Epidermal acanthosis, Hyperkeratosis, Ichthyosis, Acanthosis nigricans, Dry skin |
OMIM:618527 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Inguinal hernia, Superficial dermal perivascular inflammatory infiltrate, Epidermal acanthosis, E... |
ORPHA:83617 |
Porphyria Cutanea Tarda, Type I |
|
Eczema, Hypertrichosis |
OMIM:176090 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Nailfold capillary tortuosity, Myositis, Failure to thrive, Skin rash, Cutis marmorata, Increased... |
OMIM:615934 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Recurrent bacterial skin infections, Sparse eyelashes, Trichiasis, Keratitis, Sparse eyebrow, Abs... |
OMIM:148210 |
Papillon-Lefèvre Syndrome |
|
Recurrent cutaneous abscess formation, Severe periodontitis, Recurrent skin infections, Abnormal ... |
ORPHA:678 |
Drug-Induced Localized Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Erythema |
ORPHA:90157 |
Vohwinkel Syndrome, Variant Form |
|
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat... |
OMIM:604117 |
Cardiofaciocutaneous Syndrome 4 |
|
Absent eyebrow, Curly hair, Sparse eyelashes, Palmoplantar hyperkeratosis, Hyperhidrosis, Sparse ... |
OMIM:615280 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Concave nail, Absent eyelashes, Sp... |
OMIM:305100 |
Epidermolysis Bullosa Acquisita |
|
Pruritus, Abnormal hair morphology, Atypical scarring of skin, Inflammation of the large intestin... |
ORPHA:46487 |
Ataxia-Telangiectasia |
|
Hypopigmentation of hair, Prematurely aged appearance, Telangiectasia of the skin, Decreased circ... |
ORPHA:100 |
Hydroa Vacciniforme |
|
Erythema, Hydroa vacciniforme, Telangiectasia of the skin, Cutaneous photosensitivity |
ORPHA:330058 |
Maculopapular Cutaneous Mastocytosis |
|
Erythema, Darier's sign, Dermatographic urticaria, Generalized abnormality of skin, Flushing |
ORPHA:79457 |
Focal Facial Dermal Dysplasia Type Iii |
|
Sparse lower eyelashes, Redundant skin, Highly arched eyebrow, Abnormal hair pattern, Prematurely... |
ORPHA:1807 |
Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Skin ulcer, Telangiectasia, Hyperkeratosis, Interstitial pn... |
ORPHA:454831 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co... |
OMIM:614700 |
Bleeding Disorder, Platelet-Type, 21 |
|
Alopecia, Psoriasiform dermatitis, Eczema |
OMIM:617443 |
Cardiofaciocutaneous Syndrome |
|
Brittle hair, Redundant skin, Sparse hair, Dystrophic fingernails, Abnormal morphology of ulna, A... |
ORPHA:1340 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Sparse eyebrow, Brittle hair, Polyhydramnios |
OMIM:618810 |
Incontinentia Pigmenti |
|
Ridged nail, Uveitis, Abnormality of skin pigmentation, Coarse hair, Pallor, Sparse hair, Atrophi... |
OMIM:308300 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Failure to thrive, Sparse facial hair, Small for gestational age, Sparse axillary hair, Progeroid... |
OMIM:608154 |
Pachydermoperiostosis |
|
Abnormal hair quantity, Osteomyelitis, Acne, Abnormal fingernail morphology, Abnormal hair patter... |
ORPHA:2796 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Ichthyosis, Acan... |
ORPHA:59303 |
Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
OMIM:144150 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Reduced subcutaneous adipose tissue, Absent eyebrow, Alopecia, Membranoproliferative glomerulonep... |
OMIM:137940 |
Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Increased circulating IgE level, Atopic dermatitis, Bronchiectasis, Ulcerative colitis... |
OMIM:617638 |
Craniofaciofrontodigital Syndrome |
|
Prominent superficial veins, Thick hair, Large for gestational age, Low anterior hairline, Cutis ... |
ORPHA:363705 |
Tooth Agenesis, Selective, 4 |
|
Sparse scalp hair, Sparse eyebrow, Hypohidrosis, Short eyelashes, Thin skin, Palmar hyperkeratosi... |
OMIM:150400 |
Tricho-Retino-Dento-Digital Syndrome |
|
Uncombable hair, Sparse hair |
ORPHA:1264 |
Graft Versus Host Disease |
|
Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Du... |
ORPHA:39812 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Ichthyosis follicularis, Scaling skin, Atrichia, Periungual erythema, Dystrophic fingernails, Abs... |
OMIM:308205 |
Cronkhite-Canada Syndrome |
|
Alopecia, Generalized hyperpigmentation, Abnormal fingernail morphology, Cachexia, Tapered finger... |
ORPHA:2930 |
Peeling Skin Syndrome 2 |
|
Erythema, Scaling skin |
OMIM:609796 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Alopecia, Lipoatrophy, Increased subcutaneous trunc... |
ORPHA:2457 |
Leopard Syndrome 2 |
|
Curly hair, Dry skin, Webbed neck |
OMIM:611554 |
Gand Syndrome |
|
Sparse hair |
OMIM:615074 |
Huriez Syndrome |
|
Congenital palmoplantar hyperkeratosis, Epidermal acanthosis, Nail dystrophy, Small nail |
OMIM:181600 |
Pachyonychia Congenita 1 |
|
Follicular hyperkeratosis, Nail dystrophy, Palmoplantar hyperkeratosis, Onychogryposis |
OMIM:167200 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Decreased adipose tissue around neck, Brittle hair, Prominent superficial veins, Proger... |
OMIM:608612 |
Fg Syndrome 3 |
|
Sparse hair, Frontal upsweep of hair, Fine hair |
OMIM:300406 |
Transgrediens Et Progrediens Palmoplantar Keratoderma |
|
Recurrent bacterial skin infections, Plantar hyperkeratosis, Angular cheilitis, Hyperconvex nail,... |
ORPHA:495 |
Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... |
ORPHA:42665 |
Dermatofibrosarcoma Protuberans |
|
Erythema, Skin ulcer |
ORPHA:31112 |
Severe Combined Immunodeficiency, X-Linked |
|
Failure to thrive, Skin rash, Pneumonia, Reduced natural killer cell activity, Recurrent pneumoni... |
OMIM:300400 |
Jaberi-Elahi Syndrome |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair |
OMIM:617988 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Hypopigmentation of the skin, Alopecia, Recurrent skin infections, Scarring, Hyperpigmentation of... |
ORPHA:79396 |
Immunodeficiency, Common Variable, 11 |
|
Failure to thrive, Increased circulating IgE level, Clubbing of fingers, Inflammation of the larg... |
OMIM:615767 |
Alpha-Heavy Chain Disease |
|
Alopecia |
ORPHA:100025 |
Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis... |
OMIM:158310 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Alopecia, Ichthyosis |
OMIM:215100 |
Lethal Acantholytic Erosive Disorder |
|
Absent eyebrow, Acantholysis, Absent eyelashes, Absent toenail, Absent fingernail, Congenital alo... |
ORPHA:158687 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Increased circulating interleukin 8 concentration, Failure to thrive in infancy, Cutis marmorata,... |
OMIM:301220 |
Omenn Syndrome |
|
Alopecia, Pneumonia, Thickened skin, Splenomegaly, Lymphadenopathy, Hypoplasia of the thymus, Ery... |
OMIM:603554 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Lipoatrophy, Thin skin, Sparse hair, Failure to thrive, Hypopigmentation of the skin, Aplasia/Hyp... |
ORPHA:261304 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Reduced subcutaneous adipose tissue, Lipodystrophy, Lipoatrophy, Cachexia, Abnormal hair morpholo... |
ORPHA:1979 |
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Hyperkeratosis, Parakeratosis |
OMIM:618339 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent bacterial skin infections, Pneumonia, Increased circulating IgE level, Atopic dermatiti... |
ORPHA:217390 |
Adult Syndrome |
|
Sparse scalp hair, Alopecia, Absent nipple, Skin ulcer, Fine hair, Nail pits, Hypoplastic nipples... |
ORPHA:978 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Deep dermatophytosis, Increased circulating IgE level, Lymphadenopathy, Chronic oral candidiasis |
OMIM:212050 |
Amaurosis-Hypertrichosis Syndrome |
|
Abnormal eyelash morphology, Synophrys, Coarse hair, Thick eyebrow |
ORPHA:1021 |
Lichen Planus Pemphigoides |
|
Pruritus, Hyperkeratosis, Conjunctivitis, Skin vesicle, Blepharitis, Abnormality of the nail |
ORPHA:254478 |
Weaver Syndrome |
|
Deep-set nails, Abnormal fingernail morphology, Redundant skin, Thin nail, Hypoplastic toenails, ... |
ORPHA:3447 |
Zinc Deficiency, Transient Neonatal |
|
Alopecia, Eczema |
OMIM:608118 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Eczema, Keratitis, Increased circulating IgE level, Clubbing, Bronchiectasis, Recurrent otitis me... |
OMIM:618523 |
Sjögren-Larsson Syndrome |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Abnormal dental enamel morpho... |
ORPHA:816 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Brittle hair, Cutis marmorata |
OMIM:236200 |
Porokeratosis 7, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:614714 |
Porokeratosis 1, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:175800 |
Hypotrichosis 3 |
|
Abnormal eyelash morphology, Sparse scalp hair, Abnormality of the nail, Abnormal sweat gland mor... |
OMIM:613981 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Alopecia, Hypohidrosis, Hyperkeratosis, Ichthyosis, Sparse hair, Abnormal toenail morphology |
ORPHA:1005 |
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
Hyperhidrosis, High anterior hairline, Long eyelashes, Fine hair |
ORPHA:231137 |
Trichodermodysplasia-Dental Alterations Syndrome |
|
Sparse scalp hair, Brittle hair, Fine hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the... |
ORPHA:3353 |
Hereditary Bullous Dystrophy, Macular Type |
|
Alopecia, Congenital abnormal hair pattern, Pneumonia, Tapered finger, Cryptorchidism, Spotty hyp... |
ORPHA:1867 |
X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Dry hair, Brittle hair, Nail dystrophy |
ORPHA:93947 |
Pituitary Adenoma 4, Acth-Secreting |
|
Striae distensae, Poor wound healing, Edema, Facial erythema, Thin skin, Ecchymosis, Bruising sus... |
OMIM:219090 |
Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
|
Sparse scalp hair, Fine hair |
ORPHA:2324 |
Keratolytic Winter Erythema |
|
Erythema |
ORPHA:50943 |
Myoclonic-Astatic Epilepsy |
|
Syndactyly, Premature skin wrinkling, Frontal balding |
ORPHA:1942 |
Elastosis Perforans Serpiginosa |
|
Hyperkeratotic papule, Crusting erythematous dermatitis, Epidermal acanthosis, Cutis laxa |
ORPHA:79148 |
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Anhidrosis, Absent eyelashes,... |
OMIM:614941 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Alopecia |
OMIM:241090 |
Linear Verrucous Nevus Syndrome |
|
Hyperkeratosis, Sparse scalp hair |
ORPHA:2611 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, T... |
OMIM:607823 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Nail dystrophy, Nail dysplasia, Abnormality of hair texture |
OMIM:601957 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Alopecia, Highly arched eyebrow, Synophrys, Palmoplantar hyperkeratosis, Hypohidrosis, Dystrophic... |
ORPHA:3253 |
Intellectual Developmental Disorder, Fra12A Type |
|
Hyperkeratosis, Erythroderma |
OMIM:136630 |
Costello Syndrome |
|
Deep-set nails, Abnormal fingernail morphology, Redundant skin, Concave nail, Abnormal hair morph... |
ORPHA:3071 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Long toe, Sparse scalp hair, Sparse eyelashes, Arachnodactyly, Lipodystrophy, Progeroid facial ap... |
ORPHA:75496 |
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome |
|
Hyperkeratotic papule, Palmoplantar keratoderma, Leukonychia, Palmoplantar hyperkeratosis |
ORPHA:2698 |
Congenital Short Bowel Syndrome |
|
Sparse hair |
ORPHA:2301 |
Hypomelanosis Of Ito |
|
Alopecia |
OMIM:300337 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Plantar telangiectasia, Sparse scalp hair, Alopecia, Absent eyebrow, Cutis marmorata, Predominant... |
ORPHA:69735 |
Hoyeraal-Hreidarsson Syndrome |
|
Sparse scalp hair, Generalized hyperpigmentation, Premature graying of hair, Excessive wrinkled s... |
ORPHA:3322 |
Ige Responsiveness, Atopic |
|
Increased circulating IgE level, Eczema, Allergic rhinitis |
OMIM:147050 |
Congenital Lethal Erythroderma |
|
Congenital exfoliative erythroderma, Dry skin, Urticaria, Ichthyosis, Failure to thrive |
ORPHA:1954 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Recurrent skin infections, Increased circulating IgE level, Recurrent pneumonia, Bronchiectasis, ... |
OMIM:619752 |
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities |
|
Sparse hair |
OMIM:273390 |
Short Syndrome |
|
Inguinal hernia, Prominent superficial veins, Lipodystrophy, Lipoatrophy, Small for gestational a... |
OMIM:269880 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Sparse facial hair, Absent facial hair, Low posterior hairline |
ORPHA:2183 |
Sulfite Oxidase Deficiency, Isolated |
|
Eczema, Fine hair |
OMIM:272300 |
Self-Improving Dystrophic Epidermolysis Bullosa |
|
Abnormality of the subungual region, Gastrointestinal inflammation, Abnormality of skin pigmentat... |
ORPHA:79411 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Absent eyebrow, Lipoatrophy, Absent eyelashes, Premature graying of hair, Sparse hair, Scleroderm... |
ORPHA:363618 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Sparse hair, Hyperkeratosis with erythema, Coarse hair |
OMIM:118650 |
Trichothiodystrophy |
|
Ridged nail, Congenital exfoliative erythroderma, Brittle hair, Multiple joint contractures, Conj... |
ORPHA:33364 |
Epidermolysis Bullosa, Junctional 5A, Intermediate |
|
Absent pubic hair, Nail dystrophy, Absent axillary hair, Onycholysis of distal fingernails, Alope... |
OMIM:619816 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Sparse eyelashes, Postaxial polydactyly, Sparse eyebrow, Congenital ichthyosiform ery... |
OMIM:302960 |
Poikiloderma With Neutropenia |
|
Plantar hyperkeratosis, Skin rash, Sparse eyebrow, Splenomegaly, Recurrent pneumonia, Reticular h... |
OMIM:604173 |
Eem Syndrome |
|
Sparse scalp hair, Absent eyebrow, Sparse body hair |
ORPHA:1897 |
Familial Cold Autoinflammatory Syndrome 3 |
|
Dermatographic urticaria, Angioedema, Erythema, Cold urticaria |
OMIM:614468 |
Craniofrontonasal Dysplasia |
|
Abnormality of hair texture, Widow's peak, Low posterior hairline, Ridged fingernail, Woolly hair |
ORPHA:1520 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Sparse hair, Dry skin, Acanthosis nigricans |
OMIM:268020 |
Stuve-Wiedemann Syndrome 1 |
|
Tibial bowing, Femoral bowing, Knee flexion contracture, Blotching pigmentation of the skin, Spar... |
OMIM:601559 |
Immunodeficiency 25 |
|
Increased circulating IgA level, Increased circulating IgE level, Recurrent pneumonia, Increased ... |
OMIM:610163 |
Lipodystrophy, Familial Partial, Type 7 |
|
Loss of subcutaneous adipose tissue in limbs, Sparse scalp hair, Reduced subcutaneous adipose tis... |
OMIM:606721 |
Pachyonychia Congenita 3 |
|
Chapped lip, Plantar hyperkeratosis, Onychogryposis of toenails, Hyperhidrosis, Palmoplantar kera... |
OMIM:615726 |
Werner Syndrome |
|
Abnormal hair whorl, Premature graying of hair, Prematurely aged appearance, Lack of skin elastic... |
ORPHA:902 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Late onset atopic dermatitis, Increased circulating IgE level |
OMIM:221700 |
Acquired Partial Lipodystrophy |
|
Lipoatrophy, Decreased circulating complement C3 concentration, Generalized hirsutism, Progeroid ... |
ORPHA:79087 |
Incontinentia Pigmenti |
|
Abnormal hand morphology, Uveitis, Abnormality of skin pigmentation, Abnormal toenail morphology,... |
ORPHA:464 |
Subacute Cutaneous Lupus Erythematosus |
|
Psoriasiform lesion, Discoid lupus rash, Cheilitis, Hyperkeratosis, Cutaneous photosensitivity, V... |
ORPHA:163525 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Omphalocele, Accessory spleen, Small for gestational age, Highly arched eyebrow, Bifid distal pha... |
OMIM:618419 |
Holocarboxylase Synthetase Deficiency |
|
Perioral eczema, Alopecia, Eczema, Keratoconjunctivitis |
ORPHA:79242 |
Acrodermatitis Enteropathica |
|
Ridged nail, Abnormal eyebrow morphology, Alopecia, Pustule, Paronychia, Erythema, Cheilitis, Ski... |
ORPHA:37 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Alopecia, Adrenal hyperplasia, Acne, Dorsocervical fat pad, Increased body weight, Bruising susce... |
OMIM:615830 |
Chand Syndrome |
|
Curly hair, Nail dysplasia |
OMIM:214350 |
Vulto-Van Silfhout-De Vries Syndrome |
|
Widow's peak, Horizontal eyebrow, Fine hair |
OMIM:615828 |
Granulomatous Slack Skin |
|
Erythema, Redundant skin, Cutis laxa |
ORPHA:33111 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Reduced subcutaneous adipose tissue, Alopecia, Ulnar deviation of the hand, Limb joint contractur... |
OMIM:612079 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Eczema, Eosinophilic infiltration of the esophagus, Increased circulating IgE level, Recurrent pn... |
OMIM:243700 |
Alg8-Cdg |
|
Abnormality of subcutaneous fat tissue, Small for gestational age, Cutis laxa, Talipes equinovaru... |
ORPHA:79325 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Sparse lateral eyebrow |
OMIM:614564 |
Cog7-Cdg |
|
Small for gestational age, Long fingers, Jaundice, Abnormal finger morphology, Hepatosplenomegaly... |
ORPHA:79333 |
Intellectual Developmental Disorder, Autosomal Recessive 5 |
|
Sparse hair, Synophrys, Eczema, Thick eyebrow |
OMIM:611091 |
Autosomal Erythropoietic Protoporphyria |
|
Cutaneous photosensitivity, Erythema, Edema |
ORPHA:79278 |
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Abnormal fingernail morphology, Pruritus, Gastrointestinal inflammation, Atypical scarring of ski... |
ORPHA:79410 |
Argininosuccinic Aciduria |
|
Dry hair, Brittle hair, Cerebral edema, Trichorrhexis nodosa |
OMIM:207900 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Maculopapular exanthema, Skin rash, Petechiae,... |
ORPHA:540 |
Oculocerebrocutaneous Syndrome |
|
Alopecia |
OMIM:164180 |
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Anhidrosis, Sparse eyelashes, Sparse eyebrow, Hypohidrosis, Periorbital wrinkles, Sparse hair |
OMIM:224900 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Eczema, Lymphadenitis, Splenomegaly, Lymphadenopathy, Inflammation of the large intestine, Nail d... |
OMIM:615895 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Melanonychia, Abnormal eyelash morphology, Abnormal hair morphology, Thickened skin, Skin ulcer, ... |
ORPHA:2526 |
Dermatitis Herpetiformis |
|
Urticaria, Skin vesicle, Erythema, Edema |
ORPHA:1656 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia |
|
Low anterior hairline, Hirsutism, Long eyelashes, Sparse hair, Thick eyebrow |
OMIM:616819 |
Bullous Pemphigoid |
|
Urticaria, Erythema, Psoriasiform dermatitis |
ORPHA:703 |
Giant Axonal Neuropathy |
|
Woolly hair, Pili canaliculi |
ORPHA:643 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Inguinal hernia, Prominent superficial veins, Cryptorchidism, Flexion contracture, Elbow flexion ... |
OMIM:614438 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Chronic oral candidiasis, Pneumonia, Recurrent pneumonia, Hepatitis, Erythroderma, Hepatosplenome... |
ORPHA:169160 |
Sydenham Chorea |
|
Erythema |
ORPHA:306731 |
H Syndrome |
|
Hallux valgus, Abnormal eyebrow morphology, Alopecia, Psoriasiform dermatitis, Lipodystrophy, Scl... |
ORPHA:168569 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Hypopigmentation of the skin, Decreased response to growth hormone stimulation test, Increased ad... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hypopigmentation of the skin, Decreased response to growth hormone stimulation test, Increased ad... |
ORPHA:71526 |
Flynn-Aird Syndrome |
|
Alopecia, Skin ulcer |
ORPHA:2047 |
Pgm3-Cdg |
|
Increased circulating IgG level, Chronic otitis media, Membranoproliferative glomerulonephritis, ... |
ORPHA:443811 |
Noonan Syndrome 5 |
|
Curly hair, Large for gestational age, Sparse eyebrow, Cryptorchidism, Fine hair, Cafe-au-lait sp... |
OMIM:611553 |
Chanarin-Dorfman Syndrome |
|
Alopecia, Congenital nonbullous ichthyosiform erythroderma |
OMIM:275630 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Lipoatrophy, Macrodactyly, Telangiectasia of the skin, Seborrheic dermatitis, 2-4 toe syndactyly,... |
ORPHA:276280 |
Distal Duplication 6P |
|
Abnormal eyelash morphology, Dry skin, Fine hair, Abnormal hair quantity |
ORPHA:1745 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Prematurely aged appearance, Abnormal fingertip morphology, Progeroid facial appearance... |
ORPHA:90154 |
Noonan Syndrome 6 |
|
Curly hair, Long eyebrows, Low posterior hairline, Webbed neck, Sparse hair |
OMIM:613224 |
Filippi Syndrome |
|
Sparse hair, Frontal hirsutism, Hypertrichosis |
OMIM:272440 |
Kimura Disease |
|
Abnormal salivary gland morphology, Increased circulating IgE level, Lymphadenopathy, Follicular ... |
ORPHA:482 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Skin vesicle, Hyperconvex fingernails, Alopecia, Hypoplastic fingernail |
ORPHA:257 |
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies |
|
Sparse hair, Sparse eyebrow |
OMIM:619989 |
Tylosis With Esophageal Cancer |
|
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis |
OMIM:148500 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Curly hair, Sparse scalp hair, Inguinal hernia, Eczema, Large for gestational age, Cryptorchidism... |
OMIM:607721 |
19Q13.11 Microdeletion Syndrome |
|
Finger syndactyly, Failure to thrive, Toe syndactyly, Supernumerary nipple, Cachexia, Cryptorchid... |
ORPHA:217346 |
Familial Cold Urticaria |
|
Urticaria, Erythema, Dehydration |
ORPHA:47045 |
Biotinidase Deficiency |
|
Alopecia, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Conjunctivitis |
OMIM:253260 |
Arthrogryposis And Ectodermal Dysplasia |
|
Absent eyebrow, Trichiasis, Hypohidrosis, Hyperkeratosis, Nail dysplasia, Trichodysplasia, Dry skin |
OMIM:601701 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Epidermal acanthosis, Hypergranulosis, Abnormal epidermal morphology, Palmoplantar hyperkeratosis... |
ORPHA:79501 |
Recessive X-Linked Ichthyosis |
|
Ichthyosis, Hyperkeratosis, Dry skin, Hypohidrosis |
ORPHA:461 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Premature skin wrinkling, Failure to thrive |
OMIM:617950 |
Blepharocheilodontic Syndrome 1 |
|
Nail dysplasia, Small nail, Sparse hair, High anterior hairline, Distichiasis |
OMIM:119580 |
Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy |
|
Anterior cervical hypertrichosis |
OMIM:239840 |
Immunodeficiency, Common Variable, 10 |
|
Trachyonychia, Psoriasiform dermatitis, Alopecia totalis, Decreased response to growth hormone st... |
OMIM:615577 |
Oculocutaneous Albinism Type 1A |
|
Hyperkeratosis, Hypopigmentation of hair, Thickened skin, Albinism |
ORPHA:79431 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke... |
OMIM:613736 |
Barber-Say Syndrome |
|
Brachydactyly, Absent nipple, Sparse eyelashes, Redundant skin, Lipodystrophy, Sparse eyebrow, Cr... |
OMIM:209885 |
Even-Plus Syndrome |
|
Sparse hair, Synophrys, Atopic dermatitis, Highly arched eyebrow |
OMIM:616854 |
Hemifacial Atrophy, Progressive |
|
Patchy alopecia, Poliosis |
OMIM:141300 |
Darier-White Disease |
|
Ridged nail, Acrokeratosis, Acantholysis, Pruritus, Subungual hyperkeratotic fragments |
OMIM:124200 |
Trichohepatoenteric Syndrome 1 |
|
Curly hair, Brittle hair, Polyhydramnios, Jaundice, Fine hair, Sparse hair, Woolly hair, Trichorr... |
OMIM:222470 |
Anauxetic Dysplasia 2 |
|
Sparse hair, Nail dysplasia, Small nail |
OMIM:617396 |
Donohue Syndrome |
|
Hypermelanotic macule, Adipose tissue loss, Acanthosis nigricans, Hyperkeratosis, Large hands, Ov... |
OMIM:246200 |
2Q32Q33 Microdeletion Syndrome |
|
Sparse hair, Fine hair |
ORPHA:251019 |
Necrobiosis Lipoidica |
|
Erythema, Telangiectasia of the skin, Fragile skin, Skin ulcer |
ORPHA:542592 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Alopecia, Abnormality of skin pigmentation, Nail dystrophy, Bone marrow hypocellularity, Sparse h... |
OMIM:616353 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Alopecia |
ORPHA:88630 |
Ichthyosis Vulgaris |
|
Absent keratohyalin granules, Eczematoid dermatitis, Dry skin, Ichthyosis |
OMIM:146700 |
Rat-Bite Fever |
|
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... |
ORPHA:31205 |
Rodrigues Blindness |
|
Sparse hair, Fine hair |
OMIM:268320 |
Autoimmune Polyendocrinopathy Type 2 |
|
Alopecia, Hashimoto thyroiditis |
ORPHA:3143 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... |
OMIM:606843 |
Cog5-Cdg |
|
Camptodactyly of finger, Cryptorchidism, Genu valgum, Finger clinodactyly, Abnormality of the fro... |
ORPHA:263487 |
Johnson Neuroectodermal Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes, Hypohidrosis, Sparse hair |
ORPHA:2316 |
Immunodeficiency 23 |
|
Membranoproliferative glomerulonephritis, Eczema, Allergic rhinitis, Increased circulating IgE le... |
OMIM:615816 |
Superficial Epidermolytic Ichthyosis |
|
Erythema, Thin skin, Edema |
ORPHA:455 |
Amyloidosis, Primary Localized Cutaneous, 1 |
|
Pruritus, Dry skin, Scaling skin |
OMIM:105250 |
Short Syndrome |
|
Alopecia, Inguinal hernia, Lipodystrophy, Abnormal dental enamel morphology, Weight loss, Excessi... |
ORPHA:3163 |
Bullous Impetigo |
|
Erythema |
ORPHA:36237 |
Lessel-Kubisch Syndrome |
|
Sparse pubic hair, Premature graying of hair |
OMIM:618681 |
Oligodontia-Colorectal Cancer Syndrome |
|
Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Short eyelashes, Sparse body hair |
OMIM:608615 |
Harlequin Ichthyosis |
|
Ichthyosis, Hyperkeratosis, Congenital ichthyosiform erythroderma, Erythroderma |
ORPHA:457 |
Chronic Mucocutaneous Candidiasis |
|
Skin rash, Abnormal fingernail morphology, Pruritus, Erythema, Cheilitis, Hepatitis, Skin ulcer, ... |
ORPHA:1334 |
Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Abnormal eyebrow morphology, Alopecia, Prematurely aged appearance, Progeroid facial appearance, ... |
ORPHA:90153 |
Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Alopecia, Failure to thrive, Telangiectasia of the skin, Hypermelano... |
ORPHA:910 |
Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Hyperkeratosis, Epidermal acanthosis, Seborrheic dermatitis |
OMIM:610227 |
Bullous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis, Pruritus, Urticaria, Erythroderma, Profuse pigmented skin lesions |
ORPHA:280785 |
Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Increased circula... |
ORPHA:555905 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Inguinal hernia, Redundant neck skin, Lipodystrophy, Redundant skin, Thick hair, Abnormal subcuta... |
ORPHA:357074 |
Hypertrichosis Lanuginosa Congenita |
|
Abnormality of skin pigmentation, Generalized hirsutism, Thick eyebrow |
ORPHA:2222 |
Transaldolase Deficiency |
|
Hepatosplenomegaly, Premature skin wrinkling, Telangiectasia |
ORPHA:101028 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Acne, Hirsutism |
OMIM:612847 |
Protoporphyria, Erythropoietic, 1 |
|
Erythema, Edema |
OMIM:177000 |
Satoyoshi Syndrome |
|
Alopecia, Alopecia universalis |
OMIM:600705 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Failure to thrive, Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circul... |
OMIM:308230 |
Prolidase Deficiency |
|
Eczema, Splenomegaly, Recurrent pneumonia, Crusting erythematous dermatitis, Diffuse telangiectas... |
OMIM:170100 |
Cutis Laxa, Autosomal Dominant 2 |
|
Premature skin wrinkling, Cutis laxa |
OMIM:614434 |
Microphthalmia, Syndromic 8 |
|
Cryptorchidism, Premature skin wrinkling, Split foot |
OMIM:601349 |
Mpdu1-Cdg |
|
Scaling skin, Eczema, Decreased response to growth hormone stimulation test, Ichthyosis |
ORPHA:79323 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Uncombable hair, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Abnormal hair morphology |
ORPHA:3082 |
Renpenning Syndrome |
|
Abnormal hairshaft morphology, Alopecia, Thin eyebrow |
ORPHA:3242 |
Urban-Rogers-Meyer Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Cryptorchidism, Increased circulating IgE level, Obesity... |
ORPHA:3409 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Finger dactylitis, Anterior uveitis, Psoriasiform dermatitis, Skin rash, Psoriasiform lesion, Pru... |
ORPHA:85436 |
Mycosis Fungoides |
|
Erythema, Psoriasiform dermatitis |
OMIM:254400 |
Monosomy 22 |
|
Seborrheic dermatitis, Thickened skin, Synophrys, Hyperhidrosis, Sparse hair, Scleroderma |
ORPHA:96123 |
Noonan Syndrome 9 |
|
Sparse eyebrow, Curly hair, Webbed neck |
OMIM:616559 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Abnormal hair morphology, Acne |
ORPHA:3000 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Alopecia, Fragile nails, Small nail, Recurrent otitis media, Pili torti, Trichorrhexis nodosa, Sp... |
OMIM:261990 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Sparse pubic hair, Sparse axillary hair |
OMIM:146110 |
De Sanctis-Cacchione Syndrome |
|
Parakeratosis, Hypermelanotic macule, Keratitis, Bilateral cryptorchidism, Telangiectasia, Conjun... |
OMIM:278800 |
Wiedemann-Rautenstrauch Syndrome |
|
Flexion contracture, Hypoplasia of the thymus, Genu varum, Long toe, Absent eyebrow, Alopecia, Pr... |
OMIM:264090 |
Keutel Syndrome |
|
Recurrent otitis media, Alopecia, Recurrent sinusitis |
ORPHA:85202 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Fine hair |
ORPHA:3236 |
Lymphatic Malformation 4 |
|
Hyperkeratosis, Toenail dysplasia |
OMIM:615907 |
Shukla-Vernon Syndrome |
|
Sparse hair |
OMIM:301029 |
Primary Erythromelalgia |
|
Erythema |
ORPHA:90026 |
Ablepharon-Macrostomia Syndrome |
|
Ventral hernia, Absent eyebrow, Short metacarpal, Toe syndactyly, Omphalocele, Redundant skin, Ab... |
OMIM:200110 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Curly hair, Synophrys, Coarse hair |
OMIM:616351 |
Fontaine Progeroid Syndrome |
|
Redundant skin, Synophrys, Low anterior hairline, Coarse hair, Neonatal death, Recurrent aspirati... |
OMIM:612289 |
Craniolenticulosutural Dysplasia |
|
Sparse hair, Coarse hair, Brittle hair |
ORPHA:50814 |
Poems Syndrome |
|
Lipodystrophy, Metaphyseal sclerosis, Thickened skin, Abnormality of skin physiology, Leukonychia... |
ORPHA:2905 |
Restrictive Dermopathy |
|
Short nail, Epidermal hyperkeratosis, Sparse eyebrow, Aplasia/Hypoplastia of the eccrine sweat gl... |
ORPHA:1662 |
Bresek Syndrome |
|
Alopecia, Ichthyosis |
ORPHA:85284 |
Mucopolysaccharidosis, Type Iiib |
|
Synophrys, Coarse hair, Hirsutism |
OMIM:252920 |
Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Pneumonia, Osteomyelitis, Skin rash, Glomerulonephritis, Recurren... |
ORPHA:36234 |
Immunodeficiency 85 And Autoimmunity |
|
Failure to thrive in infancy, Eczema, Oligoarthritis, Decreased circulating total IgM, Decreased ... |
OMIM:619510 |
Rosaï-Dorfman Disease |
|
Erythema |
ORPHA:158014 |
Onychotrichodysplasia And Neutropenia |
|
Curly hair, Chronic irritative conjunctivitis, Curly eyelashes, Concave nail, Sparse pubic hair, ... |
OMIM:258360 |
Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Epidermal acanthosis, Hypergranulosis, Erythema, Hyperkeratosis, Ichthyosis, Orthokeratosis |
OMIM:613943 |
Desbuquois Syndrome |
|
Sparse hair, Abnormal eyelash morphology |
ORPHA:1425 |
Autoimmune Polyendocrinopathy Type 1 |
|
Alopecia, Abnormal fingernail morphology, Chronic mucocutaneous candidiasis |
ORPHA:3453 |
Oculodentodigital Dysplasia |
|
Curly hair, Brittle hair, Abnormal fingernail morphology, Slow-growing hair, Fine hair, Sparse ha... |
ORPHA:2710 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Highly arched eyebrow, Low anterior hairline, Hirsutism, Woolly hair, Dry skin, Broad eyebrow |
OMIM:619244 |
Immunodeficiency 104 |
|
Pneumonia, Eczema, Splenomegaly, Chronic mucocutaneous candidiasis, Lymphadenopathy, Otitis media... |
OMIM:608971 |
Mixed Connective Tissue Disease |
|
Myositis, Pericarditis, Skin rash, Gastritis, Alopecia, Myocarditis, Mediastinal lymphadenopathy,... |
ORPHA:809 |
Restrictive Dermopathy 1 |
|
Prominent superficial blood vessels, Sparse eyelashes, Short nail, Rocker bottom foot, Limb joint... |
OMIM:275210 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, 2-3 toe syndactyly, E... |
OMIM:106260 |
Bone Marrow Failure Syndrome 3 |
|
Metaphyseal dysplasia, Eczema, Hyperechogenic pancreas, Pancreatic steatosis, Cryptorchidism, Hyp... |
OMIM:617052 |
Localized Junctional Epidermolysis Bullosa |
|
Sparse axillary hair, Sparse pubic hair, Scarring alopecia of scalp, Atrophic, patchy alopecia, N... |
ORPHA:251393 |
Tetrasomy 12P |
|
Sparse hair, Sparse eyebrow, Hypohidrosis |
ORPHA:884 |
Ameloonychohypohidrotic Syndrome |
|
Hypohidrosis, Dry skin, Onycholysis, Seborrheic dermatitis |
OMIM:104570 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Brittle hair |
OMIM:619184 |
Cranioectodermal Dysplasia |
|
Sparse hair, Abnormal toenail morphology, Abnormal fingernail morphology |
ORPHA:1515 |
Macs Syndrome |
|
Alopecia, Redundant skin, Sparse eyebrow, Cryptorchidism, Bronchiectasis, Cutis laxa, Ichthyosis,... |
OMIM:613075 |
Premature Aging Syndrome, Penttinen Type |
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Brachydactyly, Failure to thrive, Lipoatrophy, Prematurely aged appearance, Prominent superficial... |
OMIM:601812 |
Fountain Syndrome |
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Cutis marmorata, Facial edema, Synophrys, Erythema, Thick eyebrow |
ORPHA:3219 |
Ichthyosis, Congenital, Autosomal Recessive 12 |
|
White scaling skin |
OMIM:617320 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Absent specific antibody response, Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pn... |
OMIM:102700 |
Fg Syndrome Type 1 |
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Finger syndactyly, Broad toe, Inguinal hernia, Progressive flexion contractures, Facial wrinkling... |
ORPHA:93932 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Subungual hyperkeratosis, Hyperpigmentation in sun-exposed areas, Decreased number of sweat gland... |
ORPHA:69087 |
Adult Syndrome |
|
Sparse scalp hair, Toe syndactyly, Absent nipple, Eczema, Sparse axillary hair, Fair hair, Split ... |
OMIM:103285 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Increased circulating interleukin 6 concentration, Adipose tissue loss, Flexion contracture, Incr... |
OMIM:256040 |
Pemphigus Vulgaris |
|
Recurrent cutaneous abscess formation, Acantholysis, Weight loss, Atypical scarring of skin, Urti... |
ORPHA:704 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Hallux valgus, Ventral hernia, Inguinal hernia, Prominent superficial veins, Prematurely aged app... |
OMIM:618000 |
Acrokeratoelastoidosis Of Costa |
|
Epidermal acanthosis, Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratosis, Hyperkeratoti... |
ORPHA:38 |
Adams-Oliver Syndrome 2 |
|
Alopecia, Low anterior hairline, Small nail |
OMIM:614219 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
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Skin rash, Pustule, Myocarditis, Angioedema, Erythema, Hepatitis, Thyroiditis, Weight loss, Lymph... |
ORPHA:139402 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level, Eczema, Thyroiditis |
OMIM:618985 |
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Sparse hair, Hypoplastic nipples, Small nail |
OMIM:273400 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Alopecia, Seborrheic dermatitis |
OMIM:210210 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Alopecia, Asplenia, Iridocyclit... |
OMIM:240300 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Woolly hair |
OMIM:607450 |
De Barsy Syndrome |
|
Inguinal hernia, Lipodystrophy, Progeroid facial appearance, Cryptorchidism, Adducted thumb, Coxa... |
ORPHA:2962 |
Mucopolysaccharidosis, Type Iiia |
|
Synophrys, Coarse hair, Hirsutism |
OMIM:252900 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Alopecia, Fine hair |
ORPHA:228390 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Sparse eyebrow, Hypohidrosis, Hyperconv... |
ORPHA:1071 |
Caspase 8 Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
Monosomy 18P |
|
Webbed neck, Alopecia, Low posterior hairline |
ORPHA:1598 |
Warty Dyskeratoma |
|
Abnormal fingernail morphology, Acrokeratosis, Epidermal thickening, Acantholysis |
ORPHA:69745 |
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Hyperkeratosis,... |
OMIM:145250 |
Cole Disease |
|
Epidermal acanthosis, Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palm... |
OMIM:615522 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Brachydactyly, Increased circulating IgE level, Short distal phalanx of finger |
ORPHA:1858 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Generalized lymphadenopathy, Pneumonia, Recurrent pneumonia, Erythem... |
ORPHA:420741 |
Ablepharon Macrostomia Syndrome |
|
Omphalocele, Absent eyebrow, Toe syndactyly, Redundant skin, Abnormal hair pattern, Camptodactyly... |
ORPHA:920 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Curly hair, Curly eyelashes, Multiple rows of eyelashes, Low posterior hairline, Nail dysplasia, ... |
ORPHA:163654 |
Opitz-Kaveggia Syndrome |
|
Syndactyly, Inguinal hernia, Multiple joint contractures, Broad hallux, Facial wrinkling, Cryptor... |
OMIM:305450 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Curly hair |
OMIM:256850 |
Immunodeficiency 7 |
|
Splenomegaly, Lymphadenopathy, Patchy alopecia, Chronic oral candidiasis, Recurrent otitis media,... |
OMIM:615387 |
Rothmund-Thomson Syndrome |
|
Sparse hair, Hypopigmentation of the skin, Abnormality of the nail, Hypoplasia of the ulna, Abnor... |
ORPHA:2909 |
Wiedemann-Rautenstrauch Syndrome |
|
Decreased response to growth hormone stimulation test, Synophrys, Sparse hair, Acanthosis nigrica... |
ORPHA:3455 |
Mucopolysaccharidosis, Type Iiic |
|
Synophrys, Coarse hair, Hirsutism, Hypertrichosis |
OMIM:252930 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Sparse hair, Abnormal hair whorl |
ORPHA:2872 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Increased circulating IgE level, Generalized abnormality of skin, Atopic dermatitis, Weight loss |
ORPHA:2902 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... |
ORPHA:280365 |
Kury-Isidor Syndrome |
|
Recurrent otitis media, Alopecia, Hypertrichosis |
OMIM:619762 |
Hall-Riggs Syndrome |
|
Coarse hair, Slow-growing hair, Thick hair |
ORPHA:2107 |
Syndromic Diarrhea |
|
Hypopigmentation of hair, Brittle hair, Uncombable hair, Woolly hair, Dry skin, Trichorrhexis nodosa |
ORPHA:84064 |
Lipodystrophy-Intellectual Disability-Deafness Syndrome |
|
Dense metaphyseal bands, Small for gestational age, Progeroid facial appearance, Generalized lipo... |
ORPHA:50811 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Failure to thrive, Splenomegaly, Recurrent pneumonia, Agammaglobulinemia, Decreased circulating t... |
OMIM:619824 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Sparse hair, Curly hair, Synophrys, Sparse eyebrow |
OMIM:620075 |
Immunodeficiency 35 |
|
Increased circulating IgE level |
OMIM:611521 |
Ichthyosis, Congenital, Autosomal Recessive 3 |
|
Anhidrosis, Erythema, Hypohidrosis, Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullo... |
OMIM:606545 |
Snakebite Envenomation |
|
Ecchymosis, Angioedema, Erythema, Edema |
ORPHA:449285 |
Tonne-Kalscheuer Syndrome |
|
Concave nail, Small nail, Fine hair |
OMIM:300978 |
Acrofacial Dysostosis, Palagonia Type |
|
Sparse eyelashes, Low anterior hairline, Thin eyebrow, Sparse hair, Pili torti, Sparse lateral ey... |
ORPHA:1787 |
Eec Syndrome |
|
Aplasia/Hypoplasia of the thumb, Decreased response to growth hormone stimulation test, Proximal ... |
ORPHA:1896 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Inguinal hernia, Prominent superficial blood vessels, Cryptorchidism, Cutis laxa, Talipes equinov... |
OMIM:219150 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Failure to thrive, Epidermal acanthosis, Increased circulating IgA level, Splenomegaly, Thyroidit... |
OMIM:617388 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, S... |
OMIM:619503 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Perianal erythema, Paronychia, Alopecia of scalp, Perioral erythema, Dry skin |
OMIM:201100 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... |
OMIM:300291 |
Noonan Syndrome 14 |
|
Curly hair, Sparse eyebrow, Low posterior hairline, Hyperhidrosis, Webbed neck, Sparse hair, Dry ... |
OMIM:619745 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... |
OMIM:619632 |
Autoimmune Lymphoproliferative Syndrome |
|
Uveitis, Increased circulating IgG level, Colitis, Decreased circulating IgG level, Chronic nonin... |
ORPHA:3261 |
Dyskeratosis Congenita |
|
White hair, Premature graying of hair, Periodontitis, Sparse hair, Skin vesicle, Alopecia, Abnorm... |
ORPHA:1775 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Palmoplantar hyperhidrosis, Nail dystrop... |
OMIM:610644 |
Cardiofaciocutaneous Syndrome 1 |
|
Hyperextensibility of the finger joints, Absent eyebrow, Curly hair, Slow-growing hair, Absent ey... |
OMIM:115150 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Sparse hair, Brittle hair, Fine hair |
OMIM:618891 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Sparse hair, Fine hair |
OMIM:616817 |
Noonan Syndrome 7 |
|
Hyperhidrosis, Curly hair, Webbed neck, Low posterior hairline |
OMIM:613706 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Alopecia, Supernumerary nipple |
ORPHA:3224 |
Porphyria, Congenital Erythropoietic |
|
Absent eyebrow, Alopecia, Cholelithiasis, Thickened skin, Jaundice, Loss of eyelashes, Splenomega... |
OMIM:263700 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Supernumerary nipple, Fine hair, Hypohidrosis, Aplastic/hypoplastic toenail, Thin skin, Dry skin,... |
ORPHA:1812 |
Spinocerebellar Ataxia 34 |
|
Epidermal hyperkeratosis, Erythroderma |
OMIM:133190 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Synophrys, Glomerulonephritis, Fine hair |
OMIM:619428 |
Braddock-Carey Syndrome 1 |
|
Sparse hair, Curly hair |
OMIM:619980 |
Dyskeratosis Congenita, Digenic |
|
Alopecia, Failure to thrive, Sparse eyelashes, Abnormality of skin pigmentation, Decreased circul... |
OMIM:620040 |
Geroderma Osteodysplasticum |
|
Hyperextensibility of the finger joints, Progeroid facial appearance, Neonatal wrinkled skin of h... |
OMIM:231070 |
Lig4 Syndrome |
|
Telangiectasia of the skin, Erythema, Cutaneous photosensitivity, Low anterior hairline |
ORPHA:99812 |
Angioedema, Hereditary, 1 |
|
Intestinal edema, Pharyngeal edema, Periorbital edema, Laryngeal edema, Angioedema, Erythema |
OMIM:106100 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Alopecia, Psoriasiform dermatitis, Alopecia totalis, Decreased response to growth hormone stimula... |
ORPHA:293978 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Alopecia |
OMIM:600785 |
Hutchinson-Gilford Progeria Syndrome |
|
Alopecia |
OMIM:176670 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Sparse hair, Hirsutism |
OMIM:618087 |
Leprosy |
|
Absent eyebrow, Alopecia, Loss of eyelashes, Penetrating foot ulcers, Uveitis, Hypohidrosis, Hype... |
ORPHA:548 |
Trichotillomania |
|
Alopecia |
OMIM:613229 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Brittle hair |
OMIM:616084 |
Macrocephaly/Autism Syndrome |
|
Large for gestational age, Splenomegaly, Obesity, Cutis laxa, Decreased circulating antibody leve... |
OMIM:605309 |
Mandibulofacial Dysostosis With Alopecia |
|
Alopecia, Sparse eyelashes |
OMIM:616367 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Dorsocervical fat pad, Small for gestational age, Deviation of the 5th toe, Synophrys, Low anteri... |
ORPHA:391408 |
Hatipoglu Immunodeficiency Syndrome |
|
Inguinal hernia, Fair hair, Failure to thrive, Eczema, Poor wound healing, Hyperpigmented/hypopig... |
OMIM:620331 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Alopecia, Fine hair, Premature graying of hair, Nail dysplasia, Dry skin |
OMIM:613990 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Atrophic scars, Bruising susceptibility, Follicular hyperkeratosis, Hernia |
ORPHA:300179 |
Igg4-Related Aortitis |
|
Increased inflammatory response, Increased circulating IgG4 level, Increased circulating IgE leve... |
ORPHA:449400 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Sparse body hair |
OMIM:300869 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Sparse hair |
OMIM:610756 |
Familial Melanoma |
|
Neoplasm of the pancreas, Abnormal hair morphology, Abnormality of the lymphatic system, Frecklin... |
ORPHA:618 |
Trichorhinophalangeal Syndrome, Type I |
|
Slow-growing hair, Thin nail, Concave nail, Osteoarthritis, Leukonychia, Fine hair, Thin eyebrow,... |
OMIM:190350 |
Systemic Sclerosis |
|
Flexion contracture, Acral ulceration, Alopecia, Thickened skin, Digital ulcer, Finger swelling, ... |
ORPHA:90291 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Excessive wrinkled skin, Inguinal hernia, Thick hair, Progeroid facial appearance |
ORPHA:357058 |
Androgen Insensitivity Syndrome |
|
Sparse pubic hair, Absent facial hair, Sparse axillary hair |
OMIM:300068 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Sparse hair, Hyperconvex nail, Eczema |
OMIM:619721 |
Atypical Werner Syndrome |
|
Abnormal hair whorl, Finger clinodactyly, Premature graying of hair, Fragile nails, Short palm, A... |
ORPHA:79474 |
Cutis Laxa, Autosomal Dominant 3 |
|
Dermal translucency, Cutis laxa, Talipes equinovarus, Hernia, Premature skin wrinkling, Adducted ... |
OMIM:616603 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Hallux valgus, Absent eyebrow, Short metacarpal, Alopecia, Inguinal hernia, Absent eyelashes, Met... |
ORPHA:166035 |
Craniolenticulosutural Dysplasia |
|
Sparse hair, Coarse hair, Brittle hair |
OMIM:607812 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Sparse scalp hair, Alopecia, Reduced subcutaneous a... |
OMIM:248370 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Sparse hair |
OMIM:620001 |
Ane Syndrome |
|
Alopecia, Multiple joint contractures, Ulnar deviation of the hand, Lipoatrophy, Decreased respon... |
ORPHA:157954 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Sparse hair, Synophrys, Thin eyebrow, Low posterior hairline |
OMIM:619320 |
Noonan Syndrome 10 |
|
Curly hair, Sparse eyebrow, Cryptorchidism, Hyperkeratosis, Webbed neck, Palmoplantar cutis laxa,... |
OMIM:616564 |
Smith-Kingsmore Syndrome |
|
Curly hair, Rhizomelia, Large for gestational age, Short proximal phalanx of finger, Cryptorchidi... |
OMIM:616638 |
Fetal Hydantoin Syndrome |
|
Coarse hair, Hypoplastic fingernail, Low posterior hairline |
ORPHA:1912 |
Tyrosinemia Type 2 |
|
Hyperkeratosis, Palmoplantar keratoderma, Abnormality of the nail, Hyperhidrosis |
ORPHA:28378 |
Hyperkeratosis Lenticularis Perstans |
|
Pruritus, Hyperkeratosis lenticularis perstans, Skin ulcer |
ORPHA:409 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Prematurely aged appearance, Abnormal distal phalanx morphology of finger, Cryptorchidism, Low po... |
ORPHA:1387 |
Griscelli Syndrome |
|
Abnormal eyebrow morphology, Abnormal eyelash morphology, Silver-gray hair, Jaundice, White hair,... |
ORPHA:381 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Bowing of the long bones, Retinal telangiectasia, Metaphyseal sclerosis, Fine hair, Premature gra... |
OMIM:612199 |
Roifman Syndrome |
|
Hip contracture, Eczema, Hyperconvex nail, Delayed proximal femoral epiphyseal ossification, Recu... |
ORPHA:353298 |
Juvenile Dermatomyositis |
|
Alopecia, Telangiectasia of the skin, Palpebral edema, Erythema, Skin ulcer, Cutaneous photosensi... |
ORPHA:93672 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Sparse hair, Bronchiectasis, Aspiration pneumonia |
OMIM:618253 |
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy |
|
Alopecia |
OMIM:600142 |
Xp22.13P22.2 Duplication Syndrome |
|
Sparse hair, High anterior hairline |
ORPHA:284180 |
Cockayne Syndrome |
|
Reduced subcutaneous adipose tissue, Abnormality of retinal pigmentation, Dry hair, Cachexia, Cry... |
ORPHA:191 |
Ruijs-Aalfs Syndrome |
|
Lipodystrophy, Elbow flexion contracture, Premature graying of hair, Decreased body weight, Spars... |
OMIM:616200 |
Immunodeficiency 64 With Lymphoproliferation |
|
Failure to thrive, Increased circulating IgA level, Mediastinal lymphadenopathy, Cervical lymphad... |
OMIM:618534 |
Pediatric Systemic Lupus Erythematosus |
|
Myositis, Alopecia, Skin rash, Discoid lupus rash, Arthritis, Malar rash, Nephritis |
ORPHA:93552 |
Fibrodysplasia Ossificans Progressiva |
|
Alopecia |
OMIM:135100 |
Nestor-Guillermo Progeria Syndrome |
|
Sparse scalp hair, Alopecia, Failure to thrive, Sparse eyelashes, Lipoatrophy, Progeroid facial a... |
OMIM:614008 |
Hutchinson-Gilford Progeria Syndrome |
|
Absent eyebrow, Prominent superficial blood vessels, Cyanosis, Alopecia totalis, Hypermelanotic m... |
ORPHA:740 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Plethora, Alopecia, Striae distensae, Acne, Dorsocervical fat pad, Pituitary adenoma, Primary hyp... |
ORPHA:189427 |
Gomez-Lopez-Hernandez Syndrome |
|
Alopecia |
OMIM:601853 |
Aspergillosis |
|
Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Increased circulating IgE level, Bronchiectasis, ... |
ORPHA:1163 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia, Skin rash |
OMIM:253270 |
Reactive Arthritis |
|
Pericarditis, Osteomyelitis, Pustule, Enthesitis, Arthritis, Inflammation of the large intestine,... |
ORPHA:29207 |
Satoyoshi Syndrome |
|
Abnormal hair morphology, Sparse or absent eyelashes, Alopecia universalis |
ORPHA:3130 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Redundant skin, Seborrheic dermatitis, Erythema, Palmoplantar hyperkeratosis, Hyperhidrosis, Arth... |
OMIM:259100 |
Polyarteritis Nodosa |
|
Erythema, Cutis marmorata, Skin ulcer |
ORPHA:767 |
Neuropathy, Hereditary Sensory, Type If |
|
Hyperkeratosis, Osteomyelitis |
OMIM:615632 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Cachexia, Clubbing, Clubbing of fingers, Nail dystrophy, Nail dysplasia, Hyperpigmentat... |
OMIM:175500 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Alopecia, Multiple joint contractures, Small for gestational age, Lack ... |
ORPHA:2959 |
Fanconi Anemia, Complementation Group S |
|
Sparse hair, Long eyelashes, Low anterior hairline |
OMIM:617883 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Comedonal acne, Follicular hyperkeratosis |
OMIM:615147 |
Scarf Syndrome |
|
Low posterior hairline, Cutis laxa, Hypoplastic nipples, Webbed neck, Sparse hair |
ORPHA:3134 |
Hemochromatosis, Type 1 |
|
Alopecia, Splenomegaly, Telangiectasia, Testicular atrophy, Hyperpigmentation of the skin |
OMIM:235200 |
Mucopolysaccharidosis-Plus Syndrome |
|
Thickened skin, Synophrys, Recurrent pneumonia, Low anterior hairline, Metaphyseal widening, Club... |
OMIM:617303 |
Insulin-Resistance Syndrome Type B |
|
Alopecia, Enlarged ovaries, Skin rash, Pneumonia, Decreased circulating complement factor B conce... |
ORPHA:2298 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Failure to thrive, Impaired T cell function, Postaxial polydactyly, Splenomegaly, Decreased speci... |
OMIM:614576 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Alopecia, Flexion contracture, Corneal scarring, Atrophic scars, Conjunctivitis, Nail dystrophy, ... |
OMIM:226600 |
Adiposis Dolorosa |
|
Recurrent skin infections, Sparse axillary hair, Sparse pubic hair, Arthritis, Dry skin |
ORPHA:36397 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Sparse body hair |
ORPHA:2234 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Coarse hair |
ORPHA:1185 |
Multiple Sulfatase Deficiency |
|
Coarse hair, Thick eyebrow, Ichthyosis |
ORPHA:585 |
Griscelli Syndrome Type 2 |
|
Hypopigmentation of hair, Partial albinism, Splenomegaly, Jaundice, Lymphadenopathy, Premature gr... |
ORPHA:79477 |
Insulin Autoimmune Syndrome |
|
Acanthosis nigricans, Arthralgia/arthritis, Increased circulating antibody level, Weight loss |
ORPHA:411593 |
Limb-Mammary Syndrome |
|
Syndactyly, Alopecia, Psoriasiform dermatitis, Chronic irritative conjunctivitis, Toe syndactyly,... |
ORPHA:69085 |
Hermansky-Pudlak Syndrome |
|
Hypopigmentation of hair, Partial albinism, Abnormal dental enamel morphology, Thickened skin, Oc... |
ORPHA:79430 |
Rothmund-Thomson Syndrome Type 1 |
|
Patellar hypoplasia, Facial erythema, Sparse hair, Short phalanx of finger, Hypopigmentation of t... |
ORPHA:221008 |
Koolen-De Vries Syndrome |
|
Ichthyosis, Hypopigmentation of hair, Dry skin, Abnormality of hair texture |
ORPHA:96169 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Woolly hair |
OMIM:610193 |
C1Q Deficiency 2 |
|
Vasculitis in the skin, Facial erythema |
OMIM:620321 |
Hereditary Acrokeratotic Poikiloderma |
|
Telangiectasia of the skin, Erythema, Xerostomia, Skin ulcer, Urticaria, Nail dystrophy, Thin ski... |
ORPHA:2907 |
Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level |
OMIM:235900 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Patchy alopecia |
ORPHA:85279 |
Generalized Pustular Psoriasis |
|
Pustule, Cheilitis, Uveitis, Arthritis, Palmoplantar pustulosis, Erythroderma, Abnormality of the... |
ORPHA:247353 |
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 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Iridocyclitis, Alopecia, Pancreatitis |
ORPHA:412057 |
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia |
|
Sparse scalp hair, Sparse eyebrow, Urticaria, Abnormality of skin pigmentation, Hypohidrotic ecto... |
OMIM:225050 |
Milroy Disease |
|
Toenail dysplasia, Hyperkeratosis, Erysipelas |
ORPHA:79452 |
Singleton-Merten Syndrome 2 |
|
Hyperkeratosis, Psoriasiform lesion |
OMIM:616298 |
Tempi Syndrome |
|
Transudative pleural effusion, Telangiectasia, Ascites, Facial erythema |
ORPHA:284227 |
Orofaciodigital Syndrome Type 1 |
|
Alopecia, Brittle hair, Coarse hair, Sparse hair, Dry skin |
ORPHA:2750 |
Adrenoleukodystrophy |
|
Alopecia |
OMIM:300100 |
Woodhouse-Sakati Syndrome |
|
Alopecia, Scaling skin, Aplasia/Hypoplasia of the eyebrow |
ORPHA:3464 |
Cranioectodermal Dysplasia 3 |
|
Short nail, Broad nail, Fine hair, Cutis laxa, Sparse hair, Dry skin |
OMIM:614099 |
Bartsocas-Papas Syndrome |
|
Hypoplastic toenails, Sparse or absent eyelashes, Alopecia totalis, Aplasia/Hypoplasia of the eye... |
ORPHA:1234 |
Acrofacial Dysostosis, Catania Type |
|
Coarse hair, Abnormal hair pattern, Webbed neck |
ORPHA:1786 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Sparse hair |
OMIM:619910 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Skin rash, Neutrophilic infiltration of the skin, Lipodystrophy, Increased circulating IgA level,... |
OMIM:618048 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
Acquired Generalized Lipodystrophy |
|
Acute pancreatitis, Generalized hyperpigmentation, Progeroid facial appearance, Abnormality of co... |
ORPHA:79086 |
Ogden Syndrome |
|
Fine hair, Aplasia/Hypoplasia of the eyebrow, Cutis laxa |
ORPHA:276432 |
Alstrom Syndrome |
|
Alopecia, Chronic active hepatitis, Recurrent pneumonia, Tubulointerstitial nephritis, Otitis med... |
OMIM:203800 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Alopecia, Ichthyosis |
OMIM:163200 |
Indolent Systemic Mastocytosis |
|
Maculopapular exanthema, Skin rash, Pruritus, Splenomegaly, Darier's sign, Urticaria, Lymphadenop... |
ORPHA:98848 |
Palmoplantar Keratoderma, Punctate Type Ia |
|
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Epidermal acanthosis, Hypergranulosis |
OMIM:148600 |
Frontonasal Dysplasia 2 |
|
Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Fine hair, Hypohidrosis, Sparse hair |
OMIM:613451 |
Ramon Syndrome |
|
Hyperkeratosis, Juvenile rheumatoid arthritis, Hypertrichosis |
OMIM:266270 |
Joubert Syndrome 37 |
|
Sparse hair |
OMIM:619185 |
Polyendocrine-Polyneuropathy Syndrome |
|
Alopecia |
ORPHA:453533 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Curly hair, Large for gestational age, Cryptorchidism, Hypopigmented skin patches, Cafe-au-lait s... |
ORPHA:457485 |
Marshall-Smith Syndrome |
|
Brittle hair, Highly arched eyebrow, Synophrys, Sparse hair, Thick eyebrow, Hypertrichosis |
OMIM:602535 |
Kikuchi-Fujimoto Disease |
|
Alopecia, Generalized lymphadenopathy, Skin rash, Pruritus, Myocarditis, Pustule, Erythema, Cervi... |
ORPHA:50918 |
Xeroderma Pigmentosum, Complementation Group F |
|
Erythema, Cutaneous photosensitivity |
OMIM:278760 |
Autosomal Dominant Hypocalcemia |
|
Alopecia, Abnormal fingernail morphology, Eczema, Dry skin, Abnormality of the nail |
ORPHA:428 |
Sunct Syndrome |
|
Flushing, Palpebral edema, Facial edema, Facial erythema |
ORPHA:57145 |
Lead Poisoning |
|
Small for gestational age, Skin rash, Increased circulating IgE level, Abnormality of humoral imm... |
ORPHA:330015 |
Rothmund-Thomson Syndrome Type 2 |
|
Patellar hypoplasia, Facial erythema, Sparse hair, Short phalanx of finger, Hypopigmentation of t... |
ORPHA:221016 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Bronchiectasis, Lymphadenopathy, Increased circulating IgM level, Cellulitis, Decre... |
OMIM:615513 |
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Follicular hyperkeratosis |
OMIM:277350 |
Tularemia |
|
Skin rash, Pneumonia, Erythema nodosum, Abnormal nasopharyngeal adenoid morphology, Mediastinal l... |
ORPHA:3392 |
Noonan Syndrome 2 |
|
Curly hair, Sparse eyebrow, Cryptorchidism, Low posterior hairline, Hyperkeratosis, Palmoplantar ... |
OMIM:605275 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Multiple joint contractures, Overweight, Cryptorchidism, Follicular hyperkeratosis, Dry skin |
ORPHA:486815 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Uveitis, Hyperconvex fingernails, Conjunctivitis, Sparse hair, Abnormality of the nail, Absent ey... |
ORPHA:2273 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Sparse hair |
OMIM:614105 |
Behcet Syndrome |
|
Erythema nodosum, Iridocyclitis, Epididymitis, Erythema, Arthritis, Patchy alopecia, Iritis |
OMIM:109650 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Sparse scalp hair, Anhidrosis, Hypohidrosis, Aplasia of the sweat glands, Sparse hair, Dry skin |
OMIM:612132 |
Igg4-Related Kidney Disease |
|
Lymphadenitis, Increased circulating IgG level, Tubulointerstitial nephritis, Cholecystitis, Decr... |
ORPHA:449395 |
Agel Amyloidosis |
|
Pruritus, Cutis laxa, Keratoconjunctivitis sicca, Abnormal spleen morphology, Nail dystrophy, Spa... |
ORPHA:85448 |
Mucolipidosis Ii Alpha/Beta |
|
Sparse eyebrow, Brittle hair, Palpebral edema, Sparse hair |
OMIM:252500 |
Trichorhinophalangeal Syndrome Type 1 |
|
Sparse eyelashes, Sparse eyebrow, Leukonychia, Sparse hair, Fragile nails |
ORPHA:77258 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Fine hair, Thick eyebrow, Cutis laxa |
OMIM:614800 |
Chime Syndrome |
|
Erythema, Skin ulcer, Fine hair, Hyperkeratosis, Ichthyosis, Sparse hair |
ORPHA:3474 |
Gorlin-Chaudhry-Moss Syndrome |
|
Coarse hair, Low anterior hairline, Generalized hirsutism |
ORPHA:2095 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Reduced subcutaneous adipose tissue, Inguinal hernia, Failure to thrive, Sparse eyelashes, Overla... |
OMIM:613026 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Ridged nail, Alopecia, Nail pits, Reticular hyperpigmentation, Premature graying of hair, Interst... |
OMIM:127550 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Splenomegaly, Jaundice, Low anterior hairline, Hypertrichosis, Excessive wrinkled skin, Overlappi... |
OMIM:608779 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Generalized ichthyosis, Esophagitis, Abnormality of hair texture |
ORPHA:79351 |
Intellectual Disability, Buenos-Aires Type |
|
Abnormal fingernail morphology, Hyperconvex thumb nails, Fine hair |
ORPHA:3079 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Ectodermal dyspla... |
OMIM:129900 |
Papa Syndrome |
|
Increased inflammatory response, Myositis, Acne, Pustule, Skin ulcer, Lymphadenopathy, Arthritis,... |
ORPHA:69126 |
Revesz Syndrome |
|
Nail pits, Fine hair, Nail dystrophy, Sparse hair, Ridged fingernail |
OMIM:268130 |
Focal Dermal Hypoplasia |
|
Omphalocele, Finger syndactyly, Alopecia, Toe syndactyly, Inguinal hernia, Camptodactyly of finge... |
ORPHA:2092 |
Orofaciodigital Syndrome Type 3 |
|
Abnormality of hair texture |
ORPHA:2752 |
Celiac Disease, Susceptibility To, 1 |
|
Alopecia, Eczema, Thyroiditis, Weight loss, Recurrent aphthous stomatitis, Stomatitis, Enamel hyp... |
OMIM:212750 |
Simpson-Golabi-Behmel Syndrome |
|
Congenital diaphragmatic hernia, Clinodactyly of the 5th finger, Finger syndactyly, Cryptorchidis... |
ORPHA:373 |
Borjeson-Forssman-Lehmann Syndrome |
|
Sparse hair, Thick eyebrow |
ORPHA:127 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Osteomyelitis, Poor wound healing, Penetrating foot ulcers, Skin ulcer, Hyperkeratosis |
ORPHA:36386 |
Idiopathic Hypereosinophilic Syndrome |
|
Generalized lymphadenopathy, Cholangitis, Colitis, Pallor, Angioedema, Clubbing, Chronic hepatiti... |
ORPHA:3260 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Urticaria, Erythema, Acrocyanosis, Purpura |
ORPHA:343 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Synophrys, Long eyelashes, Fine hair |
OMIM:620250 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Omphalocele, Absent eyebrow, Psoriasiform dermatitis, Thickened skin, Hepatitis, Hypoplasia of th... |
ORPHA:436252 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Short metacarpal, Preaxial hand polydactyly, Enlarged metaphyses, Increased circulating IgE level... |
ORPHA:508533 |
Erythroderma, Lethal Congenital |
|
Congenital exfoliative erythroderma, Failure to thrive |
OMIM:227090 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Tapered toe, Inguinal hernia, Tape... |
ORPHA:544488 |
Müllerian Aplasia And Hyperandrogenism |
|
Thick eyebrow, Acne, Frontal balding, Synophrys, Facial hirsutism, High anterior hairline, Hirsutism |
ORPHA:247768 |
Scarf Syndrome |
|
Low anterior hairline, Low posterior hairline, Cutis laxa, Hypoplastic nipples, Webbed neck, Spar... |
OMIM:312830 |
Localized Scleroderma |
|
Fasciitis, Abnormal skin adnexa morphology, Thickened skin, Erythema, Flexion contracture, Hypopi... |
ORPHA:90289 |
Noonan Syndrome 4 |
|
Sparse eyebrow, Curly hair, High anterior hairline, Webbed neck |
OMIM:610733 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteomyelitis, Skin rash, Epidermal acanthosis, Failure to thrive in infancy, Pustule, Splenomega... |
OMIM:612852 |
Adams-Oliver Syndrome |
|
Finger syndactyly, Alopecia, Brachydactyly, Hypoplastic fingernail, Cutis marmorata, Absent toe, ... |
ORPHA:974 |
Weaver Syndrome |
|
Short fourth metatarsal, Calcaneovalgus deformity, Sparse hair, Prominent fingertip pads, Deep-se... |
OMIM:277590 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Abnormality of hair texture |
ORPHA:88618 |
Aredyld Syndrome |
|
Lipoatrophy, Abnormal dental enamel morphology, Cachexia, Splenomegaly, Sparse body hair, Aplasia... |
ORPHA:1133 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Fine hair |
ORPHA:363686 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Inguinal hernia, Abnormality of subcutaneous fat tissue, Femoral hernia, Scarring, Coxa valga, Av... |
ORPHA:1901 |
Fixed Drug Eruption |
|
Erythema, Generalized abnormality of skin |
ORPHA:293812 |
Chromosome 5P13 Duplication Syndrome |
|
Sparse hair, Low posterior hairline |
OMIM:613174 |
Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Cerebral edema, Facial erythema |
ORPHA:439218 |
Giant Cell Arteritis |
|
Alopecia, Pericarditis, Skin ulcer, Hyperhidrosis, Arthritis |
ORPHA:397 |
Bloom Syndrome |
|
Adipose tissue loss, Paronychia, Uveitis, Otitis media, Decreased circulating IgG level, Hypopigm... |
ORPHA:125 |
Immunoglobulin A Vasculitis |
|
Edema, Angioedema, Erythema, Skin ulcer, Urticaria, Bruising susceptibility, Vascular skin abnorm... |
ORPHA:761 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Alopecia, Abnormal fingernail morphology, Congenital diaphragmatic hernia, Apl... |
ORPHA:1647 |
Relapsing Polychondritis |
|
Episcleritis, Pericarditis, Alopecia, Chondritis of pinna, Keratitis, Myocarditis, Erythema, Hepa... |
ORPHA:728 |
Syndromic Recessive X-Linked Ichthyosis |
|
Ichthyosis, Hyperkeratosis, Hypohidrosis |
ORPHA:281090 |
Dermatomyositis |
|
Abnormal hair quantity, Telangiectasia of the skin, Edema, Periorbital edema, Erythema, Skin ulce... |
ORPHA:221 |
Ogden Syndrome |
|
Redundant neck skin, Redundant skin, Clinodactyly of the 5th finger, Broad hallux, Prematurely ag... |
OMIM:300855 |
Immunodeficiency 60 And Autoimmunity |
|
Splenomegaly, Bronchiectasis, Ulcerative colitis, Decreased circulating total IgM, Colitis, Decre... |
OMIM:618394 |
Mogs-Cdg |
|
Alopecia, Fair hair, Decreased circulating antibody level, Hydrocele testis, Decreased circulatin... |
ORPHA:79330 |
Keppen-Lubinsky Syndrome |
|
Decreased testicular size, Failure to thrive, Lipodystrophy, Progeroid facial appearance, Recurre... |
ORPHA:435628 |
Hawkinsinuria |
|
Sparse hair |
OMIM:140350 |
Galloway-Mowat Syndrome 9 |
|
Coarse hair |
OMIM:619603 |
Schnitzler Syndrome |
|
Skin rash, Pruritus, Splenomegaly, Lymphadenopathy, Urticaria, Increased circulating IgM level, A... |
ORPHA:37748 |
Familial Benign Chronic Pemphigus |
|
Skin vesicle, Hyperkeratosis, Erythema, Acantholysis |
ORPHA:2841 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Curly hair, Slow-growing hair, Highly arched eyebrow, Cryptorchidism, Low posterior hairline, Coa... |
OMIM:617506 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Myositis, Sinusitis, Skin rash, Lipodystrophy, Splenomegaly, Flexion contracture, Lymphadenopathy... |
OMIM:617591 |
Arthrogryposis Multiplex Congenita 5 |
|
Inguinal hernia, Rocker bottom foot, Flexion contracture, Elbow flexion contracture, Hammertoe, T... |
OMIM:618947 |
Epidermodysplasia Verruciformis |
|
Telangiectasia of the skin, Recurrent skin infections, Seborrheic dermatitis, Pustule, Hypopigmen... |
ORPHA:302 |
Wrinkly Skin Syndrome |
|
Inguinal hernia, Redundant skin, Short nail, Progeroid facial appearance, Cryptorchidism, Neonata... |
OMIM:278250 |
Glutamine Deficiency, Congenital |
|
Erythema |
OMIM:610015 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Joint contracture, Dry skin, Follicular hyperkeratosis |
OMIM:617066 |
Koolen-De Vries Syndrome |
|
Failure to thrive, Small for gestational age, Eczema, Abnormality of hair texture, Cryptorchidism... |
OMIM:610443 |
Rothmund-Thomson Syndrome, Type 2 |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Small for gestational age, Absent ... |
OMIM:268400 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Hallux valgus, Ventral hernia, Alopecia, Widened atrophic scar, Arachnodactyly, Redundant skin, S... |
ORPHA:536532 |
Gapo Syndrome |
|
Alopecia, Sparse eyelashes, Prematurely aged appearance, Sparse eyebrow, Early balding, Hypopigme... |
ORPHA:2067 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Hyperkeratosis, High anterior hairline, Hypohidrosis |
OMIM:615510 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Sparse hair, Nail dysplasia, Aplasia/Hypoplasia of the eyebrow, Fine hair |
OMIM:614091 |
Neutropenia, Chronic Familial |
|
Clubbing of fingers, Clubbing, Increased circulating antibody level, Periodontitis |
OMIM:162700 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Abnormality of hair texture, Thickened skin, Synophrys, Hypoplastic sweat glands, Epidermal thick... |
ORPHA:73223 |
Cartilage-Hair Hypoplasia |
|
Sparse eyelashes, Sparse facial hair, Sparse eyebrow, Fine hair, Sparse hair, Fair hair |
OMIM:250250 |
Meige Disease |
|
Recurrent bacterial skin infections, Recurrent skin infections, Absence of lymph node germinal ce... |
ORPHA:90186 |
Cerebrofaciothoracic Dysplasia |
|
Abnormal hair pattern, Synophrys, Low posterior hairline, Coarse hair, Thick eyebrow |
ORPHA:1394 |
Aicardi-Goutieres Syndrome 1 |
|
Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura |
OMIM:225750 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Alopecia |
ORPHA:93160 |
Down Syndrome |
|
Sandal gap, Prematurely aged appearance, Abnormality of the lymphatic system, Obesity, Sparse hai... |
ORPHA:870 |
Kindler Epidermolysis Bullosa |
|
Finger syndactyly, Recurrent skin infections, Camptodactyly of finger, Abnormal dental enamel mor... |
ORPHA:2908 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Epididymitis, Lymphadenopathy, Increased circulating IgM ... |
OMIM:608106 |
Hallermann-Streiff Syndrome |
|
Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Uveitis, Sparse hair, Sp... |
ORPHA:2108 |
Immunodeficiency 27A |
|
Increased inflammatory response, Hypoplasia of the femoral head, Pneumonia, Splenomegaly, Weight ... |
OMIM:209950 |
Johanson-Blizzard Syndrome |
|
Alopecia, Abnormal hair pattern |
ORPHA:2315 |
Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Alopecia, Iridocyclitis, Hepatitis, Chronic mucocutaneous candidiasis, Decrea... |
ORPHA:227990 |
Roifman Syndrome |
|
Hip contracture, Short metacarpal, Eczema, Splenomegaly, Short toe, Recurrent pneumonia, Prominen... |
OMIM:616651 |
Werner Syndrome |
|
Prematurely aged appearance, Progeroid facial appearance, Subcutaneous calcification, Scleroderma... |
OMIM:277700 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas... |
OMIM:605258 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Alopecia, Hepatitis, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Chronic hepatitis |
OMIM:269200 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Curly hair, Redundant neck skin, Highly arched eyebrow, Low posterior hairline, Thick eyebrow |
OMIM:617360 |
Activated Pi3K-Delta Syndrome |
|
Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Decreased circulating antibody le... |
ORPHA:397596 |
Interstitial Granulomatous Dermatitis With Arthritis |
|
Erythema |
ORPHA:79099 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Bowing of the long bones, Inguinal hernia, Prominent superficial veins, Redundant skin, Lack of s... |
OMIM:612940 |
Cockayne Syndrome B |
|
Reduced subcutaneous adipose tissue, Dry hair, Failure to thrive, Small for gestational age, Prem... |
OMIM:133540 |
Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Alopecia, Autoimmune hypoparathyroidism, Iridocyclitis, Hepatitis, Chronic mu... |
ORPHA:227982 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Carpal synostosis, Bowing of the long bones, Flared metaphysis, Advanced ossification of carpal b... |
OMIM:615349 |
Biotinidase Deficiency |
|
Skin rash, Alopecia, Eczematoid dermatitis, Conjunctivitis |
ORPHA:79241 |
Immunodeficiency, Common Variable, 2 |
|
Impaired T cell function, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia, Bronchiectas... |
OMIM:240500 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Erythema, Fine hair, Onycholysis, Nail dystr... |
OMIM:614748 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial skin infections, Failure to thrive, Skin rash, Pneumonia, Abnormal immunoglob... |
ORPHA:276 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Recurrent pneumonia, Lymphadenopathy, Hepatosplenomegaly, Decreased circulating antibody level, H... |
OMIM:619750 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Facial erythema |
OMIM:618307 |
Schimke Immunoosseous Dysplasia |
|
Small for gestational age, Hypermelanotic macule, Abnormal immunoglobulin level, Bilateral crypto... |
OMIM:242900 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Hyperhidrosis, Thickened skin, Acne, Seborrheic dermatitis |
OMIM:614441 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Ectodermal dyspla... |
OMIM:604292 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Curly hair |
OMIM:300986 |
Encephalocraniocutaneous Lipomatosis |
|
Alopecia, Linear hyperpigmentation, Cryptorchidism, Lipoma, Multiple central nervous system lipom... |
OMIM:613001 |
Chops Syndrome |
|
Curly hair, Thick hair, Synophrys, Coarse hair, Long eyelashes, Aspiration pneumonia, Thick eyebrow |
OMIM:616368 |
Scalp-Ear-Nipple Syndrome |
|
Sparse axillary hair, Sparse pubic hair, Thickened skin, Pyelonephritis, Fine hair, Hypohidrosis,... |
OMIM:181270 |
Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Redundant skin, Micromelia, Split hand, Femoral bowing, Ex... |
ORPHA:1860 |
Nodular Non-Suppurative Panniculitis |
|
Erythema, Edema |
ORPHA:33577 |
Irida Syndrome |
|
Hyperkeratosis, Pallor, Ichthyosis |
ORPHA:209981 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Curly hair |
ORPHA:85184 |
Igg4-Related Submandibular Gland Disease |
|
Cholangitis, Increased circulating IgG4 level, Increased circulating IgE level, Enlarged lacrimal... |
ORPHA:449432 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Alopecia, Congenital nonbullous ichthyosiform erythroderma |
ORPHA:98907 |
Gapo Syndrome |
|
Alopecia, Sparse eyelashes, Redundant skin, Sparse eyebrow, Hypoplastic nipples, Nail dysplasia, ... |
OMIM:230740 |
Marshall Syndrome |
|
Sparse eyelashes, Sparse eyebrow, Osteoarthritis, Hypohidrosis, Sparse hair |
ORPHA:560 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Erythema, Edema |
OMIM:619183 |
Cockayne Syndrome A |
|
Reduced subcutaneous adipose tissue, Hip contracture, Dry hair, Failure to thrive, Prematurely ag... |
OMIM:216400 |
Menkes Disease |
|
Hypopigmentation of hair, Osteomyelitis, Bowing of the long bones, Tarsal synostosis, Inguinal he... |
ORPHA:565 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Lymphocytic interstitial pneumonia, Splenomegaly, Lymphadenopathy, Increased circulating IgG leve... |
OMIM:618495 |
Trichohepatoneurodevelopmental Syndrome |
|
Curly hair, Decreased body weight, Overlapping toe, Cholelithiasis, Pruritus, Woolly hair, Synoph... |
OMIM:618268 |
Large Congenital Melanocytic Nevus |
|
Congenital giant melanocytic nevus, Pruritus, Hypopigmented skin patches, Abnormality of skin pig... |
ORPHA:626 |
Pemphigus Erythematosus |
|
Malar rash, Hypopigmented skin patches, Acantholysis |
ORPHA:79480 |
Pseudoxanthoma Elasticum |
|
Acne, Skin rash, Telangiectasia of the skin, Pruritus, Lack of skin elasticity, Excessive wrinkle... |
ORPHA:758 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Micromelia, Hypopigmented skin patches, Coxa vara, Fine hair, Multiple cafe-au-lait spots, Trunca... |
ORPHA:2637 |
Fucosidosis |
|
Failure to thrive, Generalized hyperkeratosis, Lipoatrophy, Acrocyanosis, Vascular skin abnormali... |
ORPHA:349 |
Ritscher-Schinzel Syndrome 4 |
|
Curly hair |
OMIM:619435 |
Bloom Syndrome |
|
Syndactyly, Hypopigmentation of the skin, Small for gestational age, Cryptorchidism, Bronchiectas... |
OMIM:210900 |
Systemic Lupus Erythematosus |
|
Alopecia, Lupus nephritis, Discoid lupus rash, Cheilitis, Lymphadenopathy, Arthritis, Cutaneous p... |
ORPHA:536 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Bronchiectasis, Lymphadenopathy, Increased circulating IgG level, Incre... |
OMIM:619220 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Large for gestational age, Palmoplantar hyperkeratosis, Sparse hair, Clinodactyly of the 5th fing... |
OMIM:280000 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Alopecia, Acne, Hirsutism |
ORPHA:90795 |
Sialidosis Type 1 |
|
Splenomegaly, Hyperkeratosis, Vascular skin abnormality, Hernia |
ORPHA:812 |
Wiskott-Aldrich Syndrome |
|
Eczema, Reduced natural killer cell activity, Increased circulating IgA level, Increased circulat... |
OMIM:301000 |
Focal Dermal Hypoplasia |
|
Ridged nail, Brittle hair, Supernumerary nipple, Telangiectasia, Patchy alopecia, Nail dystrophy,... |
OMIM:305600 |
Sympathetic Ophthalmia |
|
Macular edema, Alopecia, Erythema, Poliosis |
ORPHA:79098 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Sparse facial hair, Sparse eyebrow, Sparse pubic hair, Alo... |
ORPHA:2232 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Splenomegaly, Bronchiectasis, Ato... |
ORPHA:436159 |
Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Hypoplastic toenails, Low anterior... |
ORPHA:235 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Sparse eyelashes, Sparse eyebrow, Small nail, Sparse hair, High anterior hairline |
OMIM:250410 |
Adult-Onset Still Disease |
|
Joint swelling, Erythema |
ORPHA:829 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Chronic noninfectious lymphadenopathy, Increased circulating IgA level, Follicular hyperplasia, S... |
OMIM:603909 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Sparse hair, Sparse eyelashes, Fine hair |
OMIM:257850 |
Immunodeficiency 22 |
|
Pericarditis, Failure to thrive, Decreased circulating total IgM, Panniculitis, Decreased circula... |
OMIM:615758 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Reticulated skin pigmentation, Palmoplantar hyperkeratosis, Premature graying of hair, White fore... |
OMIM:613989 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Mediastinal lymphadenopathy, Splenomegaly, Decreased specific anti-polysaccharide antibody level,... |
OMIM:300853 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Failure to thrive, Eczematoid dermatitis, Seborrheic dermatitis |
OMIM:619693 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hyperkeratosis, Telangiectasia of the skin, Telangiectasia |
ORPHA:79279 |
Chand Syndrome |
|
Curly hair, Dry skin, Nail dysplasia, Hypohidrosis |
ORPHA:1401 |
Generalized Eruptive Histiocytosis |
|
Pruritus, Spotty hyperpigmentation, Maculopapular exanthema, Lymphadenopathy |
ORPHA:157991 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Anhidrosis, Eczema, Thin nail, Sparse hair, Dry skin |
OMIM:617799 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Inguinal hernia, Arachnodactyly, Poor wound healing, Recurrent pneumonia, Excessive wrinkled skin... |
OMIM:225400 |
Chronic Graft Versus Host Disease |
|
Fasciitis, Alopecia, Poor wound healing, Urinary bladder inflammation, Thickened skin, Erythema, ... |
ORPHA:99921 |
Gaucher Disease, Perinatal Lethal |
|
Splenomegaly, Hepatosplenomegaly, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderm... |
OMIM:608013 |
Distal Deletion 19P |
|
Alopecia, Thick eyebrow |
ORPHA:96129 |
Leishmaniasis |
|
Splenomegaly, Skin ulcer, Weight loss, Lymphadenopathy, Rhinitis, Increased circulating antibody ... |
ORPHA:507 |
Agammaglobulinemia, X-Linked |
|
Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, Bronchiectasis, Agammaglob... |
OMIM:300755 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Pruritus, Splenomegaly, Lymphadenopathy, Weight loss |
ORPHA:86893 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Sparse body hair |
ORPHA:3068 |
Osteogenesis Imperfecta, Type Xx |
|
Sparse hair, Highly arched eyebrow, Sparse lateral eyebrow |
OMIM:618644 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Splenomegaly, Bronchiectasis, Decreased circ... |
OMIM:616100 |
Viss Syndrome |
|
Chronic gastritis, Prominent superficial blood vessels, Increased circulating IgG level, Long toe... |
OMIM:619472 |
Mucolipidosis Type Ii |
|
Hip contracture, Dry hair, Inguinal hernia, Thickened skin, Splenomegaly, White hair, Fine hair, ... |
ORPHA:576 |
Diamond-Blackfan Anemia 21 |
|
Hallux valgus, Sandal gap, Cutis marmorata, Tapered finger, Preaxial hand polydactyly, Short toe,... |
OMIM:620072 |
Craniofrontonasal Syndrome |
|
Ridged nail, Curly hair, Split nail, Toe syndactyly, Broad hallux, Unilateral breast hypoplasia, ... |
OMIM:304110 |
Microscopic Polyangiitis |
|
Erythema, Cutis marmorata, Subcutaneous hemorrhage, Skin ulcer |
ORPHA:727 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Highly arched eyebrow, Cryptorchidism, Splenomegaly, Fine hair, Low posterior hairline, Hepatospl... |
OMIM:613563 |
Thrombocytopenia 1 |
|
Eczema, Increased circulating IgA level, Increased circulating IgE level, Bruising susceptibility... |
OMIM:313900 |
Glass Syndrome |
|
Sparse hair, Long eyelashes, Thin skin, Nail dysplasia |
OMIM:612313 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Metaphyseal dysplasia, Coxa valga, Hypoplasia of the capital femoral epiphysis, Decreased circula... |
OMIM:617425 |
Autosomal Dominant Cutis Laxa |
|
Inguinal hernia, Redundant neck skin, Prematurely aged appearance, Redundant skin, Adducted thumb... |
ORPHA:90348 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Reduced subcutaneous adipose tissue, Prominent fingertip pads, Curly hair, Macroorchidism, Premat... |
OMIM:619950 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse |
|
Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal acanthosis |
OMIM:615735 |
Vitamin D-Dependent Rickets, Type 2A |
|
Bowing of the legs, Subperiosteal bone resorption, Femoral bowing, Tibial bowing, Fibular bowing,... |
OMIM:277440 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Dry hair, Low anterior hairline |
OMIM:618569 |
Boutonneuse Fever |
|
Skin rash, Maculopapular exanthema, Cervical lymphadenopathy, Lymphadenopathy, Increased circulat... |
ORPHA:83313 |
Immunodeficiency 105 |
|
Skin rash, Absence of lymph node germinal center, Decreased circulating antibody level, Hepatospl... |
OMIM:619924 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Hypopigmentation ... |
OMIM:214500 |
Immunodeficiency 52 |
|
Splenomegaly, Recurrent pneumonia, Bronchiectasis, Decreased circulating antibody level, Lymphade... |
OMIM:617514 |
Mucopolysaccharidosis, Type Iiid |
|
Thick eyebrow, Synophrys, Coarse hair, Facial hirsutism, Recurrent otitis media, Hirsutism |
OMIM:252940 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Coarse hair, Nail dysplasia |
OMIM:612394 |
Hajdu-Cheney Syndrome |
|
Synophrys, Low anterior hairline, Coarse hair, Periodontitis, Hernia, Generalized hirsutism, Part... |
ORPHA:955 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Sparse scalp hair, Sparse eyelashes, Pterygium of nails, Palmoplantar hyperkeratosis, Reticular h... |
OMIM:224230 |
Genitopatellar Syndrome |
|
Sparse scalp hair, Fine hair |
ORPHA:85201 |
Lymphatic Malformation 12 |
|
Hydrocele testis, Hyperkeratosis, Inguinal hernia, Neonatal death |
OMIM:620014 |
Erythema Elevatum Diutinum |
|
Skin rash, Skin vesicle, Increased circulating antibody level, Vasculitis in the skin |
ORPHA:90000 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anterior uveitis, Inflammatory abnormality of the skin, Hypopigmentation of the skin, Skin rash, ... |
ORPHA:95455 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Alopecia totalis |
OMIM:618775 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Prominent fingertip pads, Alopecia, Anomaly of lower limb diaphyses, Arachnodactyly, Eczema, Smal... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Prominent fingertip pads, Alopecia, Anomaly of lower limb diaphyses, Arachnodactyly, Eczema, Smal... |
ORPHA:363958 |
Complete Androgen Insensitivity Syndrome |
|
Acne, Sparse axillary hair, Sparse pubic hair, Absent pubic hair, Absent axillary hair |
ORPHA:99429 |
Immunodeficiency, Common Variable, 1 |
|
Impaired T cell function, Pneumonia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Lymphaden... |
OMIM:607594 |
Hennekam-Beemer Syndrome |
|
Skin vesicle, Urticaria, Erythema, Telangiectasia of the skin |
ORPHA:2135 |
Mu-Heavy Chain Disease |
|
Splenomegaly, Increased circulating antibody level, Lymphadenopathy, Weight loss |
ORPHA:100024 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Hyperextensibility of the finger joints, Syndactyly, Inguinal hernia, Prominent scalp veins, Cuti... |
OMIM:151050 |
Subcorneal Pustular Dermatosis |
|
Erythema |
ORPHA:48377 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Erythema |
OMIM:614878 |
Renpenning Syndrome 1 |
|
Sparse hair, Brittle hair, Sparse lateral eyebrow |
OMIM:309500 |
46,Xy Sex Reversal 6 |
|
Hirsutism, Sparse axillary hair |
OMIM:613762 |
Rheumatic Fever |
|
Erythema, Pallor |
ORPHA:3099 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Eosinophilic infiltration of the esophagus, Perianal abscess, Increased circulating IgE level, Pa... |
OMIM:618213 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Sparse hair, Recurrent pneumonia |
OMIM:616449 |
Trisomy 20P |
|
Thick hair, Highly arched eyebrow, Low anterior hairline, Low posterior hairline, Coarse hair, Th... |
ORPHA:261318 |
Cahmr Syndrome |
|
Generalized hypertrichosis |
OMIM:211770 |
Oculodentodigital Dysplasia |
|
Dry hair, Slow-growing hair, Uveitis, Fine hair, Sparse hair, Fragile nails |
OMIM:164200 |
Neutrophilic Dermatosis, Acute Febrile |
|
Erythema, Pyoderma gangrenosum |
OMIM:608068 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
White hair, Fine hair |
ORPHA:935 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Brittle hair |
OMIM:124000 |
Mycetoma |
|
Recurrent bacterial skin infections, Prominent superficial veins, Osteomyelitis, Abnormality of t... |
ORPHA:2583 |
Letterer-Siwe Disease |
|
Seborrheic dermatitis, Jaundice, Hepatosplenomegaly, Pallor, Stomatitis |
OMIM:246400 |
Selective Igm Deficiency |
|
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Otitis media, R... |
ORPHA:331235 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
|
Hyperhidrosis, Thickened skin, Acne, Seborrheic dermatitis |
OMIM:167100 |
Costello Syndrome |
|
Deep-set nails, Hyperextensibility of the finger joints, Curly hair, Redundant neck skin, Hyperpi... |
OMIM:218040 |
Hallermann-Streiff Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Recurrent pneumonia, Fine hair, Sparse hair,... |
OMIM:234100 |
Noonan Syndrome |
|
Abnormal hair quantity, Cryptorchidism, Abnormality of the spleen, Abnormality of the lymphatic s... |
ORPHA:648 |
Gcgr-Related Hyperglucagonemia |
|
Necrolytic migratory erythema |
ORPHA:438274 |
Seckel Syndrome |
|
Sparse scalp hair, Sandal gap, Abnormal dental enamel morphology, Cachexia, Prematurely aged appe... |
ORPHA:808 |
Zika Virus Disease |
|
Maculopapular exanthema, Skin rash, Subcutaneous hemorrhage, Pruritus, Retinal pigment epithelial... |
ORPHA:448237 |
Linear Nevus Sebaceus Syndrome |
|
Alopecia |
ORPHA:2612 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Sparse hair, Thick eyebrow, Long eyelashes, Hirsutism |
OMIM:212066 |
Autoimmune Lymphoproliferative Syndrome |
|
Chronic noninfectious lymphadenopathy, Increased circulating IgA level, Follicular hyperplasia, S... |
OMIM:601859 |
Pyoderma Gangrenosum |
|
Myositis, Pustule, Skin ulcer, Inflammation of the large intestine, Atrophic scars, Increased cir... |
ORPHA:48104 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Lymphangioma, Excessive wrinkled skin, Ovarian neoplasm |
ORPHA:137608 |
Lysinuric Protein Intolerance |
|
Sparse hair, Fine hair, Pancreatitis, Cutis laxa |
OMIM:222700 |
Cerebellofaciodental Syndrome |
|
Sparse eyebrow, Fine hair |
OMIM:616202 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Micromelia, Flexion contracture, Preaxial polydactyly, Femoral bowing, Knee flexion contracture, ... |
OMIM:210710 |
Mednik Syndrome |
|
Hyperkeratosis, Ichthyosis |
ORPHA:171851 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Acne, Hirsutism |
ORPHA:2795 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Skin rash, Pneumonia, Lymphadenitis, Chronic mucocutaneous c... |
ORPHA:911 |
Scalp-Ear-Nipple Syndrome |
|
Abnormal fingernail morphology, Hypohidrosis, Pyelonephritis, Breast aplasia, Sparse hair |
ORPHA:2036 |
Neuroocular Syndrome |
|
Brittle hair, Highly arched eyebrow, Synophrys, Long eyelashes, Small nail, Distichiasis, Thick e... |
OMIM:619539 |
Leprechaunism |
|
Reduced subcutaneous adipose tissue, Enlarged ovaries, Thickened skin, Acanthosis nigricans, Hype... |
ORPHA:508 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Skin rash, Erythema nodosum, Splenomegaly, Lymphadenopathy, Urticaria, Arthritis, Recurrent aphth... |
OMIM:611762 |
Mucopolysaccharidosis, Type Vii |
|
Recurrent otitis media, Coarse hair, Thick eyebrow, Hirsutism |
OMIM:253220 |
Hepatoerythropoietic Porphyria |
|
Recurrent bacterial skin infections, Scarring, Pruritus, Scarring alopecia of scalp, Thickened sk... |
ORPHA:95159 |
Wrinkly Skin Syndrome |
|
Inguinal hernia, Lipodystrophy, Cryptorchidism, Excessive skin wrinkling on dorsum of hands and f... |
ORPHA:2834 |
Woodhouse-Sakati Syndrome |
|
Sparse hair, Alopecia, Fine hair |
OMIM:241080 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Short metacarpal, Brachydactyly, Rhizomelia, Small for gestational age, Short metatarsal, Small h... |
OMIM:614813 |
Colchicine Poisoning |
|
Myocarditis, Alopecia |
ORPHA:31824 |
2P15P16.1 Microdeletion Syndrome |
|
Inguinal hernia, Sandal gap, Camptodactyly of finger, Supernumerary nipple, Tapered finger, Spars... |
ORPHA:261349 |
Nablus Mask-Like Facial Syndrome |
|
Sparse eyelashes, Highly arched eyebrow, Absent eyelashes, Sparse eyebrow, Low anterior hairline,... |
OMIM:608156 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Erythema, Cerebral edema |
OMIM:618321 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Abnormality of the pineal gland, Eczema, Seborrheic dermatitis, Obesity, Clinodactyly of the 5th ... |
ORPHA:369950 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hip contracture, Seborrheic dermatitis, Large for gestational age, Flexion contracture, Elbow fle... |
OMIM:300868 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Limb joint contracture, Tapered finger, Seborrheic dermatitis, Splenomegaly, Flexion contracture,... |
OMIM:301072 |
Cushing Disease |
|
Plethora, Sparse scalp hair, Adrenal hyperplasia, Acne, Dorsocervical fat pad, Poor wound healing... |
ORPHA:96253 |
Laron Syndrome |
|
Prematurely aged appearance, Short toe, Osteoarthritis, Truncal obesity, Brachydactyly |
ORPHA:633 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Plethora, Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm ... |
ORPHA:99889 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Sparse hair, Acanthosis nigricans |
OMIM:616541 |
Corneodermatoosseous Syndrome |
|
Erythema, Abnormal fingernail morphology, Absent fingernail |
ORPHA:3194 |
Felty Syndrome |
|
Episcleritis, Pericarditis, Sinusitis, Generalized hyperpigmentation, Splenomegaly, Recurrent pne... |
ORPHA:47612 |
Bartsocas-Papas Syndrome 1 |
|
Bilateral cryptorchidism, Flexion contracture, Short phalanx of finger, Syndactyly, Alopecia, Abs... |
OMIM:263650 |
Leigh Syndrome |
|
Alopecia, Frontal hirsutism, Eczema, Hypertrichosis |
ORPHA:506 |
Bainbridge-Ropers Syndrome |
|
Highly arched eyebrow, Supernumerary nipple, Synophrys, Hirsutism, Long eyelashes, Thin eyebrow, ... |
OMIM:615485 |
Melas |
|
Erythema, Hypertrichosis |
ORPHA:550 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Dry hair, Coarse hair, Hypopigmentation of hair, Widow's peak |
ORPHA:1974 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Sparse hair, Fine hair |
ORPHA:251028 |
Igg4-Related Ophthalmic Disease |
|
Sinusitis, Cholangitis, Increased circulating IgG4 level, Keratitis, Orchitis, Increased circulat... |
ORPHA:449563 |
Autosomal Recessive Malignant Osteopetrosis |
|
Pallor, Chronic rhinitis, Otitis media, Abnormality of hair texture |
ORPHA:667 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Skin ulcer, Abnormality of skin pigmentation, Thin skin, Subcutaneous hemorrhage, Purpura |
ORPHA:743 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Eczema, Synophrys, Sparse hair, Chronic otitis media, Toenail dysplasia, Hirsutism |
OMIM:300966 |
Bethlem Myopathy |
|
Multiple joint contractures, Camptodactyly of finger, Interphalangeal joint contracture of finger... |
ORPHA:610 |
Hamamy Syndrome |
|
Sparse eyelashes, Sparse eyebrow, Low posterior hairline, Sparse hair, Abnormal number of hair wh... |
OMIM:611174 |
Lymphatic Filariasis |
|
Glomerulonephritis, Circulating immune complexes, Lymphadenitis, Orchitis, Knee osteoarthritis, E... |
ORPHA:2035 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Flexion contracture, Talipes equinovarus, Follicular hyperkeratosis, Increased laxity of fingers,... |
OMIM:254090 |
22Q11.2 Deletion Syndrome |
|
Impaired T cell function, Hypoplasia of the thymus, Chronic otitis media, Hypoparathyroidism, Acn... |
ORPHA:567 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Prematurely aged appearance, Skin rash, Cachexia, Urticaria, Cutaneous photosensitivity, Numerous... |
ORPHA:220295 |
Trichinellosis |
|
Skin rash, Increased circulating IgE level, Conjunctivitis |
ORPHA:863 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Splenomegaly, Fulminant hepatitis, De... |
OMIM:308240 |
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Abnormality of skin pigmentation, Warfarin-induced skin necrosis, Thin skin, Purpura |
ORPHA:745 |
Cerebellar-Facial-Dental Syndrome |
|
Sparse hair, Sparse eyebrow, Fine hair |
ORPHA:444072 |
Proteus Syndrome |
|
Central heterochromia, Neoplasm of the thymus, Abnormal finger morphology, Abnormality of skin pi... |
ORPHA:744 |
Focal Facial Dermal Dysplasia Type Iv |
|
Abnormal epidermal morphology, Abnormal mast cell morphology, Scarring |
ORPHA:398189 |
Scleromyxedema |
|
Aged leonine appearance, Pruritus, Thickened skin, Paraproteinemia, Generalized abnormality of sk... |
ORPHA:167635 |
Limited Cutaneous Systemic Sclerosis |
|
Telangiectasia of the skin, Foot joint contracture, Hypopigmented skin patches, Skin ulcer, Abnor... |
ORPHA:220402 |
Parkes Weber Syndrome |
|
Abnormal femoral metaphysis morphology, Prominent superficial blood vessels, Skin ulcer, Abnormal... |
ORPHA:90307 |
Teebi-Shaltout Syndrome |
|
Sparse hair, Low anterior hairline, Highly arched eyebrow, Slow-growing hair |
OMIM:272950 |
Dyskeratosis Congenita, X-Linked |
|
Ridged nail, Split nail, Alopecia, Sparse eyelashes, Reticulated skin pigmentation, Cryptorchidis... |
OMIM:305000 |
Goldberg-Shprintzen Syndrome |
|
Sparse hair, Synophrys, Thick eyebrow, Highly arched eyebrow |
OMIM:609460 |
Classic Hodgkin Lymphoma |
|
Skin rash, Pruritus, Splenomegaly, Lymphadenopathy, Weight loss, Bone marrow hypocellularity |
ORPHA:391 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Alopecia, Recurrent skin infections, Pneumonia, Abnormal fingertip morphology, Paronychia, Fragil... |
ORPHA:79404 |
Autoimmune Hepatitis |
|
Viral hepatitis, Glomerulonephritis, Spider hemangioma, Splenomegaly, Fulminant hepatitis, Jaundi... |
ORPHA:2137 |
Thrombocytopenia-Absent Radius Syndrome |
|
Femoral bowing, Clinodactyly of the 5th finger, Short phalanx of finger, Genu varum, Hypoplasia o... |
OMIM:274000 |
Complement Component 5 Deficiency |
|
Decreased circulating complement C5 concentration, Reduced hemolytic complement activity, General... |
OMIM:609536 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Short palm, Rhizomelia, Metaphyseal chondrodysplasia, Metaphyseal cupping of metacarpals, Short f... |
ORPHA:163966 |
Lateral Meningocele Syndrome |
|
Coarse hair |
OMIM:130720 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Rhizomelia, Small for gestational age, Decreased response to growth hormone stimulation test, Spa... |
OMIM:614114 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Decreased response to growth hormone stimulation test, Joint contracture of the 5th finger, Hyper... |
OMIM:602782 |
Noonan Syndrome With Multiple Lentigines |
|
Cryptorchidism, Melanocytic nevus, Excessive wrinkled skin, Multiple lentigines, Webbed neck, Fre... |
ORPHA:500 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Lipodystrophy, Skin rash, Failure to thrive in infancy, Increased circulating IgA level, Lymphade... |
OMIM:617099 |
Hypocomplementemic Urticarial Vasculitis |
|
Episcleritis, Skin rash, Pruritus, Splenomegaly, Angioedema, Uveitis, Lymphadenopathy, Arthritis,... |
ORPHA:36412 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Sandal gap, Progeroid facial appearance, Decreased fibular diameter, Sparse eyebrow, Flexion cont... |
OMIM:619127 |
Erythroderma Desquamativum |
|
Failure to thrive, Seborrheic dermatitis |
ORPHA:314 |
Cranioectodermal Dysplasia 1 |
|
Broad toe, Brachydactyly, Short humerus, Rhizomelia, Short nail, Broad distal phalanges of all fi... |
OMIM:218330 |
Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Pre... |
ORPHA:3440 |
Adrenomyeloneuropathy |
|
Frontal balding, Fine hair |
ORPHA:139399 |
Immunodeficiency 97 With Autoinflammation |
|
Recurrent skin infections, Eczema, Mediastinal lymphadenopathy, Splenomegaly, Enterocolitis, Decr... |
OMIM:619802 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Abnormal natural killer cell physiology, Decreased circulating antibody level, Hepa... |
OMIM:613101 |
Chédiak-Higashi Syndrome |
|
Recurrent bacterial skin infections, Hypopigmentation of hair, Abnormality of retinal pigmentatio... |
ORPHA:167 |
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Pilomatrixoma, Multinodular goiter, Hyperkeratosis, Hammertoe, Lipoma |
OMIM:620189 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Glomerulonephritis, Increased circulating antibody level, Pneumonia |
OMIM:247800 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Mullerian Aplasia And Hyperandrogenism |
|
Acne, Hirsutism |
OMIM:158330 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Splenomegaly, Failure to thrive, Increased circulating antibody level |
OMIM:615285 |
Kaufman Oculocerebrofacial Syndrome |
|
Sparse hair, Thin skin, Sparse eyebrow |
OMIM:244450 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Abnormality of retinal pigmentation, Thick hair, Thickened skin, Flexion contracture, Hepatosplen... |
ORPHA:505248 |
Candidiasis, Familial, 8 |
|
Chronic oral candidiasis, Blepharitis, Cheilitis, Seborrheic dermatitis |
OMIM:615527 |
Mucopolysaccharidosis Type 3 |
|
Inguinal hernia, Thick hair, Adenoiditis, Avascular necrosis of the capital femoral epiphysis, Sp... |
ORPHA:581 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Decreased testicular size, Cryptorchidism, Flexion contracture, Short foot, Large hands, Patchy a... |
OMIM:300534 |
Kawasaki Disease |
|
Palmoplantar erythema, Abnormality of nail color, Jaundice, Edema |
ORPHA:2331 |
Xfe Progeroid Syndrome |
|
Failure to thrive, Prematurely aged appearance, Cachexia, Absence of subcutaneous fat, Corneal sc... |
OMIM:610965 |
Geroderma Osteodysplastica |
|
Hernia, Prematurely aged appearance, Redundant skin, Thin skin |
ORPHA:2078 |
Aggressive Systemic Mastocytosis |
|
Maculopapular exanthema, Pruritus, Hypersplenism, Weight loss, Urticaria, Hepatosplenomegaly, Lym... |
ORPHA:98850 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Sparse hair, Gout |
OMIM:300661 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Splenomegaly, Recurrent pneumonia, Pyoderma gangrenosum, Bronchiectasis, Lymphadenopathy, Recurre... |
OMIM:150550 |
Melnick-Needles Syndrome |
|
Omphalocele, Short humerus, Coxa valga, Flared metaphysis, Cone-shaped epiphyses of the phalanges... |
OMIM:309350 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Curly hair, Abnormal fingernail morphology, Thick hair, Highly arched eyebrow, Hypoplastic toenai... |
ORPHA:444077 |
Immunodeficiency 67 |
|
Increased circulating IgE level |
OMIM:607676 |
White-Sutton Syndrome |
|
Congenital diaphragmatic hernia, Obesity, Sparse hair, Failure to thrive, Broad thumb, Brachydactyly |
OMIM:616364 |
Chikungunya |
|
Facial edema, Erythema, Pedal edema, Joint swelling, Skin vesicle, Cutaneous photosensitivity, Pe... |
ORPHA:324625 |
Simple Cryoglobulinemia |
|
Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Purpura, Monoclonal elev... |
ORPHA:91139 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Absent specific antibody response, Follicular hyperplasia, Lymphadenopathy, Decreased circulating... |
OMIM:619846 |
Orofaciodigital Syndrome I |
|
Sparse hair, Alopecia, Dry hair |
OMIM:311200 |
Cartilage-Hair Hypoplasia |
|
Metaphyseal dysplasia, Bowing of the long bones, Abnormality of retinal pigmentation, Rhizomelia,... |
ORPHA:175 |
Vascular Ehlers-Danlos Syndrome |
|
Redundant skin, Osteoarthritis, Abnormality of skin pigmentation, Periodontitis, Alopecia, Premat... |
ORPHA:286 |
Familial Keratoacanthoma |
|
Hyperkeratosis, Skin ulcer |
ORPHA:493 |
Majeed Syndrome |
|
Inflammatory abnormality of the skin, Osteomyelitis, Acne, Cachexia, Pustule, Splenomegaly, Flexi... |
ORPHA:77297 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Recurrent skin infections, Splenomegaly, Abnormal lymph node morphology, Hepatosplenomegaly, Pete... |
OMIM:612840 |
Arterial Tortuosity Syndrome |
|
Inguinal hernia, Arachnodactyly, Redundant skin, Rocker bottom foot, Coxa valga, Avascular necros... |
ORPHA:3342 |
Q Fever |
|
Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Myocarditis, Splenomegaly, Hepat... |
ORPHA:781 |
Cohen Syndrome |
|
Finger syndactyly, Abnormality of retinal pigmentation, Arachnodactyly, Thick hair, Sandal gap, T... |
ORPHA:193 |
Dyskeratosis Congenita, Autosomal Recessive 3 |
|
Abnormality of skin pigmentation, Nail dystrophy, Bone marrow hypocellularity |
OMIM:613988 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Splenomegaly, Weight loss, Lymphadenopathy, Pallor, Bone marrow hypocellularity, Chronic otitis m... |
ORPHA:3226 |
C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Lipodystrophy, Paraproteinemia, Decreased circulating c... |
ORPHA:329918 |
Cyclic Neutropenia |
|
Sinusitis, Recurrent skin infections, Perianal abscess, Peritonitis, Cervical lymphadenopathy, Re... |
ORPHA:2686 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Decreased lymphocyte apoptosis, Splenomegaly, Increased circulating antibody level, Follicular hy... |
OMIM:614470 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Inguinal hernia, Arachnodactyly, Poor wound healing, Synophrys, Atypical scarring of skin, Talipe... |
ORPHA:536545 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Hypoplastic toenails, Gastrointestinal inflammation, Hyperconvex fingernails, Inflammation of the... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Hypoplastic toenails, Gastrointestinal inflammation, Hyperconvex fingernails, Inflammation of the... |
ORPHA:99228 |
Monosomy X |
|
Hypoplastic toenails, Gastrointestinal inflammation, Hyperconvex fingernails, Inflammation of the... |
ORPHA:99226 |
Turner Syndrome |
|
Hypoplastic toenails, Gastrointestinal inflammation, Hyperconvex fingernails, Inflammation of the... |
ORPHA:881 |
Pearson Marrow-Pancreas Syndrome |
|
Erythema, Pallor, Hydrops fetalis, Dehydration |
OMIM:557000 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Sparse body hair, Breast hypoplasia |
ORPHA:432 |
Phakomatosis Pigmentokeratotica |
|
Patchy alopecia, Hyperhidrosis |
ORPHA:2874 |
Cockayne Syndrome Type 2 |
|
Scarring, Progeroid facial appearance, Hypermelanotic macule, Cryptorchidism, Flexion contracture... |
ORPHA:90322 |
Sarcoidosis |
|
Alopecia, Maculopapular exanthema, Scarring, Hyperpigmentation of the skin, Erythema nodosum, Enl... |
ORPHA:797 |
Autosomal Recessive Robinow Syndrome |
|
Finger syndactyly, Alopecia, Broad hallux phalanx, Toe syndactyly, Brachydactyly, Sandal gap, Cam... |
ORPHA:1507 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Reduced subcutaneous adipose tissue, Hyperextensibility of the finger joints, Arachnodactyly, Lip... |
OMIM:616914 |
Occipital Horn Syndrome |
|
Coxa vara, Humerus varus, Coarse hair, Short palm, Femoral hernia, Scarring, Hiatus hernia, Hepat... |
ORPHA:198 |
Encephalocraniocutaneous Lipomatosis |
|
Abnormal eyelash morphology, Alopecia |
ORPHA:2396 |
Myhre Syndrome |
|
Overlapping toe, Small for gestational age, Thickened skin, Short toe, Cryptorchidism, 2-3 toe sy... |
OMIM:139210 |
Primary Sjögren Syndrome |
|
Myositis, Chronic active hepatitis, Tubulointerstitial nephritis, Decreased circulating complemen... |
ORPHA:289390 |
Noonan Syndrome 1 |
|
Failure to thrive in infancy, Cryptorchidism, Synovitis, Low posterior hairline, Cafe-au-lait spo... |
OMIM:163950 |
Distal Deletion 12Q |
|
Late onset atopic dermatitis, Broad hallux, Overlapping toe, Failure to thrive in infancy, Unilat... |
ORPHA:96149 |
Mast Cell Sarcoma |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytosis |
ORPHA:66661 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM |
OMIM:153600 |
Occipital Horn Syndrome |
|
Coarse hair, Redundant skin, Pili torti |
OMIM:304150 |
6Q Terminal Deletion Syndrome |
|
Hyperkeratosis, Low anterior hairline, Highly arched eyebrow |
ORPHA:75857 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Tapered finger, Cryptorchidism, Absence of subcutaneous fat, Small hand, Decrea... |
OMIM:620005 |
Toxic Epidermal Necrolysis |
|
Acantholysis, Erythema, Skin ulcer, Weight loss, Conjunctivitis, Pancreatitis |
ORPHA:537 |
Cranioectodermal Dysplasia 2 |
|
Syndactyly, Inguinal hernia, Rhizomelia, Cholangitis, Sparse eyelashes, Sparse eyebrow, Splenomeg... |
OMIM:613610 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Sparse hair |
OMIM:619934 |
Pseudomyxoma Peritonei |
|
Inflammation of the large intestine, Lymphadenopathy, Hernia, Weight loss |
ORPHA:26790 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Fasciitis, Pericarditis, Myositis, Skin rash, Hypermelanotic macule, Orchitis, Splenomegaly, Peri... |
ORPHA:32960 |
Adult-Onset Nemaline Myopathy |
|
Paraproteinemia, Flexion contracture |
ORPHA:171442 |
Lymphoma, Hodgkin, Classic |
|
Polyclonal elevation of IgM |
OMIM:236000 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Skin rash, Eczema, Cutis marmorata, Erythema nodosum, Splenomegaly, Skin ulcer, Decreased circula... |
OMIM:615688 |
Coccidioidomycosis |
|
Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Pruritus, Erythema nodosum, Peritonitis, Abnor... |
ORPHA:228123 |
Stevens-Johnson Syndrome |
|
Acantholysis, Erythema, Weight loss, Conjunctivitis, Pancreatitis |
ORPHA:36426 |
Lymphoproliferative Syndrome 2 |
|
Splenomegaly, Recurrent pneumonia, EBV encephalitis, Uveitis, Decreased circulating antibody leve... |
OMIM:615122 |
Vipoma |
|
Erythema, Dehydration, Intermittent jaundice, Ascites, Subcutaneous lipoma |
ORPHA:97282 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Acute pancreatitis, Eczema, Perianal abscess, Lymphadenitis, Splenomegaly, Recurrent pneumonia, R... |
OMIM:618935 |
Caffey Disease |
|
Cortical thickening of long bone diaphyses, Increased circulating antibody level, Cellulitis |
ORPHA:1310 |
Epidermodysplasia Verruciformis, Susceptibility To, 3 |
|
Epidermal acanthosis |
OMIM:618267 |
Autosomal Dominant Robinow Syndrome |
|
Finger syndactyly, Alopecia, Inguinal hernia, Femoral hernia, Camptodactyly of finger, Micromelia... |
ORPHA:3107 |
Arterial Tortuosity Syndrome |
|
Inguinal hernia, Arachnodactyly, Congenital diaphragmatic hernia, Hiatus hernia, Progeroid facial... |
OMIM:208050 |
Coffin-Lowry Syndrome |
|
Hyperextensibility of the finger joints, Short metacarpal, Inguinal hernia, Cutis marmorata, High... |
OMIM:303600 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Erythema |
OMIM:614653 |
Blau Syndrome |
|
Pericarditis, Skin rash, Camptodactyly of finger, Keratitis, Retrobulbar optic neuritis, Erythema... |
ORPHA:90340 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Short metacarpal, Redundant neck skin, Brachydactyly, Eczema, Short metatarsal, Obesity, Pseudohy... |
OMIM:617157 |
Cholestasis-Lymphedema Syndrome |
|
Splenomegaly, Jaundice, Abnormality of the lymphatic system, Abnormality of skin pigmentation, Mu... |
ORPHA:1414 |
Hurler Syndrome |
|
Camptodactyly of finger, Abnormality of the tonsils, Splenomegaly, Abnormality of skin pigmentati... |
ORPHA:93473 |
Postinfectious Vasculitis |
|
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... |
ORPHA:48435 |
American Trypanosomiasis |
|
Skin rash, Myocarditis, Splenomegaly, Lymphadenopathy, Pallor, Infectious encephalitis |
ORPHA:3386 |
Oculocerebrorenal Syndrome Of Lowe |
|
Sparse scalp hair, Inguinal hernia, Hyperparathyroidism, Abnormal dental enamel morphology, Crypt... |
ORPHA:534 |
Cockayne Syndrome Type 1 |
|
Foot joint contracture, Scarring, Progeroid facial appearance, Hypermelanotic macule, Cryptorchid... |
ORPHA:90321 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Alopecia, Flexion contracture, Genu valgum, Abdominal obesity, Hypoplasia of the ovary, Generaliz... |
OMIM:619321 |
Familial Mediterranean Fever |
|
Ascites, Erythema, Pedal edema |
ORPHA:342 |
African Trypanosomiasis |
|
Pericarditis, Alopecia, Keratitis, Myocarditis, Pruritus, Jaundice, Splenomegaly, Weight loss, Ab... |
ORPHA:3385 |
Primary Myelofibrosis |
|
Cachexia, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, Pallor, Ecchymosis, Petechiae, Purpura |
ORPHA:824 |
Familial Tumoral Calcinosis |
|
Erythema |
ORPHA:53715 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Nodular goiter, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy, Goiter |
ORPHA:319487 |
Cowden Syndrome |
|
Brachydactyly, Enlarged polycystic ovaries, Goiter, Hypopigmented skin patches, Melanocytic nevus... |
ORPHA:201 |
Mevalonic Aciduria |
|
Skin rash, Failure to thrive in infancy, Fluctuating splenomegaly, Increased circulating IgD leve... |
OMIM:610377 |
Adams-Oliver Syndrome 1 |
|
Alopecia, Small nail, Supernumerary nipple |
OMIM:100300 |
Hyper-Igd Syndrome |
|
Skin rash, Increased circulating IgA level, Lymphadenitis, Splenomegaly, Hepatosplenomegaly, Lymp... |
OMIM:260920 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Nodular goiter, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy, Goiter |
ORPHA:97290 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Chronic gastritis, Sparse scalp hair, Redundant skin in infancy, Recurrent pneumonia, Cutis laxa,... |
OMIM:150230 |
Warburg-Cinotti Syndrome |
|
Joint swelling, Erythema, Thin skin, Poor wound healing |
OMIM:618175 |
Digeorge Syndrome |
|
Inguinal hernia, Acne, Impaired T cell function, Femoral hernia, Seborrheic dermatitis, Parathyro... |
OMIM:188400 |
Scorpion Envenomation |
|
Pulmonary edema, Erythema, Edema, Purpura |
ORPHA:466677 |
Transketolase Deficiency |
|
Conjunctivitis, Uveitis, Seborrheic dermatitis |
ORPHA:488618 |
Brucellosis |
|
Knee osteoarthritis, Increased circulating IgG level, Infectious encephalitis, Epididymitis, Lymp... |
ORPHA:1304 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Bowing of the long bones, Sand... |
ORPHA:3103 |
Hennekam Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Sparse axillary hair, Splenomegaly, Pulmonary lymphan... |
ORPHA:2136 |
Cockayne Syndrome Type 3 |
|
Dry hair, Splenomegaly, Flexion contracture, Premature graying of hair, Keratoconjunctivitis sicc... |
ORPHA:90324 |
Neurocardiofaciodigital Syndrome |
|
Sparse hair, Sparse eyebrow |
OMIM:619869 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal eyelash morphology, Erythema, Abnormality of the nail |
ORPHA:2556 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Failure to thrive, Sinusitis, Aplasia of the thymus, Pneumonia, Atypical or prolonged hepatitis, ... |
ORPHA:83471 |
Interstitial Lung Disease 2 |
|
Clubbing of fingers, Increased circulating antibody level |
OMIM:178500 |
Ring Chromosome 13 Syndrome |
|
Aplasia/Hypoplasia of the thumb, Alopecia, Hypoplasia of the gallbladder, Aplasia/hypoplasia invo... |
ORPHA:96176 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Finger syndactyly, Inguinal hernia, Hypoplastic fingernail, Femoral hernia, Redundant skin, Abnor... |
ORPHA:2658 |
Mednik Syndrome |
|
Erythema |
OMIM:609313 |
Legionnaires Disease |
|
Pericarditis, Myocarditis, Jaundice, Splenomegaly, Hepatitis, Endocarditis, Lymphadenopathy, Bone... |
ORPHA:549 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Alopecia, Abnormal distal phalanx morphology of finger, Micromelia, Abnormal metacarpal morpholog... |
ORPHA:2636 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Primary testicular failure, Weight loss, Hepatosplenomegaly, Tubulointerstitial nephritis, Lympha... |
ORPHA:85450 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Dry hair, Inguinal hernia, Pneumonia, Eczema, Biliary hyperplasia, Splenomegal... |
OMIM:619991 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Sparse hair, Nail dysplasia |
OMIM:616682 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Pneumonia, Bronchiectasis, Increased circulating IgM level, Failure to thrive, Decreas... |
OMIM:242860 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Absent nipple, Broad hallux, Aplasia of the thymus, Sparse eyebrow, Hydrocele testis, Prolonged n... |
OMIM:620186 |
Pneumocystosis |
|
Weight loss, Acute infectious pneumonia, Interstitial pneumonitis, Increased circulating antibody... |
ORPHA:723 |
Immunodeficiency 55 |
|
Recurrent skin infections, Eczema, Lymphadenopathy, Ichthyosis, Dry skin |
OMIM:617827 |
Coffin-Siris Syndrome 1 |
|
Dry hair, Congenital diaphragmatic hernia, Prominent interphalangeal joints, Prominent fingertip ... |
OMIM:135900 |
Cutis Laxa, Autosomal Dominant 1 |
|
Inguinal hernia, Prematurely aged appearance, Redundant skin, Poor wound healing, Progeroid facia... |
OMIM:123700 |
Cystic Echinococcosis |
|
Abnormality of the testis size, Jaundice, Weight loss, Urticaria, Membranous nephropathy, Ovarian... |
ORPHA:400 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Pericarditis, Skin rash, Splenomegaly, Lymphadenopathy, Juvenile rheumatoid art... |
ORPHA:85414 |
Degcags Syndrome |
|
Synophrys, Low anterior hairline, Premature graying of hair, Abnormality of skin pigmentation, Pa... |
OMIM:619488 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Generalized lymphadenopathy, Skin rash, Pneumonia, Chilblains, Splenomegaly, ... |
OMIM:615846 |
Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Skin rash, Reduced natural killer cell activity, Splenomegaly, Jaundice, Hepatosplenomegaly, Lymp... |
OMIM:603553 |
Immunodeficiency 82 With Systemic Inflammation |
|
Colitis, Pustular rash, Bronchiectasis, Hepatitis, Lymphadenopathy, Decreased lymphocyte prolifer... |
OMIM:619381 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Glomerulonephritis, Increased circulating IgA level |
OMIM:314000 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Metaphyseal dysplasia, Pneumonia, Hypermelanotic macule, Metaphyseal sclerosis, Metaphyseal widen... |
OMIM:607944 |
Angiostrongyliasis |
|
Increased circulating IgA level, Pruritus, Increased circulating specific IgE antibody, Increased... |
ORPHA:74 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Frontal balding, Highly arched eyebrow, Synophrys, Long lower eyelashes, Palmoplantar erythema |
OMIM:612474 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Failure to thrive in infancy, Absence of lymph node germinal center, Jaundice, Chronic mucocutane... |
ORPHA:79124 |
Burkitt Lymphoma |
|
Abnormality of the spleen, Abnormality of the ovary, Abnormal lymph node morphology |
ORPHA:543 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Inguinal hernia, Cutis laxa, Atrophic scars, Talipes equinovarus, Follicular hyperkeratosis, Umbi... |
OMIM:614557 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Sparse scalp hair, Highly arched eyebrow, Sparse eyebrow, Synophrys, Low anterior hairline, Long ... |
OMIM:619841 |
Zttk Syndrome |
|
Sparse eyebrow, Curly hair, Broad eyebrow |
OMIM:617140 |
Urachal Cyst |
|
Erythema |
ORPHA:488 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Pruritus, Splenomegaly, Weight loss, Urticaria, Lymphadenopathy, Pallor, Abnormal mast cell morph... |
ORPHA:98849 |
Kanzaki Disease |
|
Telangiectasia of the oral mucosa, Lip telangiectasia, Angiokeratoma corporis diffusum, Hyperkera... |
OMIM:609242 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Sparse pubic hair, Sparse body hair, Sparse axillary hair |
ORPHA:90796 |
Witteveen-Kolk Syndrome |
|
Decreased response to growth hormone stimulation test, Proximal placement of thumb, Congenital di... |
OMIM:613406 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Posterolateral diaphragmatic hernia, Accessory spleen, Inguinal hernia, Sandal gap, Redundant ski... |
OMIM:613177 |
Glucagonoma |
|
Intermittent jaundice, Ascites, Subcutaneous lipoma, Necrolytic migratory erythema |
ORPHA:97280 |
Immunodeficiency 36 With Lymphoproliferation |
|
Splenomegaly, Enlarged tonsils, Bronchiectasis, Increased circulating IgM level, Decreased circul... |
OMIM:616005 |
Saul-Wilson Syndrome |
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Short metacarpal, Prominent superficial veins, Pseudoepiphyses of the metacarpals, Progeroid faci... |
OMIM:618150 |
Campomelia, Cumming Type |
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Bowing of the long bones, Prematurely aged appearance, Micromelia, Pancreatic cysts, Clubbing of ... |
ORPHA:1318 |
Subacute Inflammatory Demyelinating Polyneuropathy |
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Increased circulating IgG level |
ORPHA:206594 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
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Recurrent bacterial skin infections, Osteomyelitis, Discoid lupus rash, Lymphadenitis, Splenomega... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
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Recurrent bacterial skin infections, Osteomyelitis, Discoid lupus rash, Lymphadenitis, Splenomega... |
OMIM:233710 |
Asthma, Short Stature, And Elevated Iga |
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Increased circulating IgA level |
OMIM:208600 |
Zollinger-Ellison Syndrome |
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Jaundice, Erythema |
ORPHA:913 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
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Increased circulating antibody level |
OMIM:202700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
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Recurrent bacterial skin infections, Osteomyelitis, Discoid lupus rash, Lymphadenitis, Splenomega... |
OMIM:233690 |
Pallister-Killian Syndrome |
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Congenital diaphragmatic hernia, Flexion contracture, Hyperpigmented streaks, Camptodactyly of 2n... |
OMIM:601803 |
Primary Biliary Cholangitis |
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Increased circulating IgA level, Pruritus, Jaundice, Hepatitis, Gastrointestinal inflammation, In... |
ORPHA:186 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
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Skin rash, Cervical lymphadenopathy, Recurrent pneumonia, Lymphadenopathy, Inflammation of the la... |
OMIM:617718 |
Multiple Endocrine Neoplasia Type 4 |
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Erythema, Subcutaneous lipoma |
ORPHA:276152 |
Alveolar Echinococcosis |
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Cholangitis, Pancreatic cysts, Jaundice, Weight loss, Abnormal spleen morphology, Increased circu... |
ORPHA:284 |
Fabry Disease |
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Conjunctival telangiectasia, Telangiectasia of the skin, Angiokeratoma, Abnormal femur morphology... |
ORPHA:324 |
Common Variable Immunodeficiency |
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Failure to thrive in infancy, Pneumonia, Splenomegaly, Bronchiectasis, Decreased circulating anti... |
ORPHA:1572 |
Immunodeficiency 31C |
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Osteomyelitis, Eczema, Decreased lymphocyte proliferation in response to anti-CD3, Splenomegaly, ... |
OMIM:614162 |
Steinert Myotonic Dystrophy |
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Early balding, Alopecia |
ORPHA:273 |
Classical Ehlers-Danlos Syndrome |
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Inguinal hernia, Prematurely aged appearance, Phalangeal dislocation, Poor wound healing, Hiatus ... |
ORPHA:287 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
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Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity, Recurrent aphthous stomatitis, Chroni... |
OMIM:301078 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Angiokeratoma ... |
ORPHA:79280 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
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Abnormal metacarpophalangeal joint morphology, Abnormal metatarsal morphology, Iridocyclitis, Kne... |
ORPHA:85408 |
Gaucher Disease Type 1 |
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Hypersplenism, Splenomegaly, Osteoarthritis, Increased circulating antibody level, Bruising susce... |
ORPHA:77259 |
Sarcoidosis, Susceptibility To, 1 |
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Abnormality of T cell physiology, Generalized lymphadenopathy, Iridocyclitis, Mediastinal lymphad... |
OMIM:181000 |
Branchioskeletogenital Syndrome |
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Amelia involving the lower limbs, Absent nipple, Highly arched eyebrow, Upper limb peromelia, Syn... |
ORPHA:1299 |
Fanconi Anemia, Complementation Group A |
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Anemic pallor, Small for gestational age, Absent thumb, Absent radius, Short thumb, Cryptorchidis... |
OMIM:227650 |
Ataxia-Telangiectasia-Like Disorder 2 |
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Conjunctival telangiectasia, Progeroid facial appearance, Congenital diaphragmatic hernia, Cutane... |
OMIM:615919 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent bacterial skin infections, Osteomyelitis, Discoid lupus rash, Lymphadenitis, Splenomega... |
OMIM:306400 |
Fanconi Anemia, Complementation Group D2 |
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Anemic pallor, Small for gestational age, Absent thumb, Absent radius, Short thumb, Preaxial hand... |
OMIM:227646 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Hallux valgus, Curly hair, Overlapping toe, Postaxial polydactyly, Tapered finger, Curved fingers... |
ORPHA:480880 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
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Pneumonia, Decreased lymphocyte proliferation in response to anti-CD3, Absent peripheral lymph no... |
OMIM:600802 |
Primary Sclerosing Cholangitis |
|
Spider hemangioma, Pruritus, Splenomegaly, Jaundice, Dilated superficial abdominal veins, Hepatit... |
ORPHA:171 |
Keppen-Lubinsky Syndrome |
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Lack of facial subcutaneous fat, Progeroid facial appearance, Recurrent pneumonia, Flexion contra... |
OMIM:614098 |
Branchiooculofacial Syndrome |
|
Proximal placement of thumb, Supernumerary nipple, Short thumb, Preaxial hand polydactyly, Crypto... |
OMIM:113620 |
Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormality of the lymphatic system, Abnormal lymph node morphology, Abnormal testis morphology, ... |
ORPHA:54251 |
Ebola Hemorrhagic Fever |
|
Acute pancreatitis, Increased circulating antibody level, Hepatitis, Maculopapular exanthema |
ORPHA:319218 |
Congenital Analbuminemia |
|
Small for gestational age, Lipodystrophy, Increased circulating antibody level, Obesity |
ORPHA:86816 |
Igg4-Related Dacryoadenitis And Sialadenitis |
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Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Enlarged lacrimal gl... |
ORPHA:79078 |
Chromosome Xp11.3 Deletion Syndrome |
|
Pigmentary retinopathy, Progeroid facial appearance, Cryptorchidism |
OMIM:300578 |
Crimean-Congo Hemorrhagic Fever |
|
Acute pancreatitis, Erythema nodosum, Myocarditis, Orchitis, Epididymitis, Jaundice, Splenomegaly... |
ORPHA:99827 |
Menke-Hennekam Syndrome 1 |
|
Sparse hair, Long eyelashes, Thick eyebrow |
OMIM:618332 |
Xeroderma Pigmentosum, Complementation Group B |
|
Freckling, Cutaneous photosensitivity, Pigmentary retinopathy, Progeroid facial appearance |
OMIM:610651 |
Adult Idiopathic Neutropenia |
|
Increased circulating IgM level, Recurrent aphthous stomatitis |
ORPHA:2688 |
Baller-Gerold Syndrome |
|
Erythema |
OMIM:218600 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Curly hair, Absent gallbladder, Arachnodactyly, Failure to thrive in infancy, Absent thumb, Spars... |
ORPHA:500150 |
Rift Valley Fever |
|
Skin rash, Jaundice, Hepatitis, Uveitis, Increased circulating IgG level, Increased circulating I... |
ORPHA:319251 |
Al Amyloidosis |
|
Abnormal salivary gland morphology, Bruising susceptibility, Increased circulating antibody level... |
ORPHA:85443 |
Marburg Hemorrhagic Fever |
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Pericarditis, Skin rash, Maculopapular exanthema, Orchitis, Jaundice, Uveitis, Lymphadenopathy, A... |
ORPHA:99826 |
Roberts-Sc Phocomelia Syndrome |
|
Accessory spleen, Syndactyly, Hypoplasia of the ulna, Short humerus, Ankle flexion contracture, A... |
OMIM:268300 |
Japanese Encephalitis |
|
Elbow flexion contracture, Increased circulating IgM level, Increased circulating antibody level,... |
ORPHA:79139 |
Behçet Disease |
|
Increased inflammatory response, Myositis, Pericarditis, Acne, Orchitis, Retrobulbar optic neurit... |
ORPHA:117 |
Castleman Disease |
|
Increased circulating interleukin 6 concentration, Generalized lymphadenopathy, Follicular hyperp... |
ORPHA:160 |
Gaucher Disease |
|
Osteomyelitis, Splenomegaly, Osteoarthritis, Hepatitis, Abnormality of skin pigmentation, Increas... |
ORPHA:355 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Pruritus, Granulomatous cholangitis, Ulcerative colitis, Increased circulating IgG level, Inflamm... |
ORPHA:562639 |
Lassa Fever |
|
Increased circulating IgM level, Jaundice, Conjunctivitis |
ORPHA:99824 |
Multiple Myeloma |
|
Increased circulating IgA level, Splenomegaly, Weight loss, Lymphadenopathy, Increased circulatin... |
ORPHA:29073 |
Williams Syndrome |
|
Hallux valgus, Inguinal hernia, Failure to thrive in infancy, Redundant skin, Abnormal dental ena... |
ORPHA:904 |
Inflammatory Pseudotumor Of The Liver |
|
Increased hepatitis B virus antibody level, Weight loss |
ORPHA:90003 |
Cerebrotendinous Xanthomatosis |
|
Prematurely aged appearance, Abnormal tibia morphology, Abnormal finger morphology, Abnormal femu... |
ORPHA:909 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Nongranulomatous uveitis, Anterior uveitis, Abnormality of retinal pigmentation, Skin rash, Inter... |
ORPHA:91500 |
Pseudoxanthoma Elasticum |
|
Civatte bodies, Cutis laxa |
OMIM:264800 |
Primrose Syndrome |
|
Sparse scalp hair, Hip contracture, Absent facial hair, Metatarsus adductus, Bilateral cryptorchi... |
OMIM:259050 |
Lysinuric Protein Intolerance |
|
Glomerulonephritis, Decreased response to growth hormone stimulation test, Decreased circulating ... |
ORPHA:470 |
O'Sullivan-Mcleod Syndrome |
|
Increased circulating antibody level |
ORPHA:99965 |
Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Hypoplasia of the Leydig cells, Otitis med... |
ORPHA:64 |
Encephalitis Lethargica |
|
Increased circulating antibody level |
ORPHA:83600 |
Pancreatoblastoma |
|
Abnormal lymph node morphology, Jaundice, Pancreatic calcification, Weight loss |
ORPHA:677 |
Tick-Borne Encephalitis |
|
Increased circulating IgG level, Abnormality of serum cytokine level, Increased circulating IgM l... |
ORPHA:297 |
Aapoaiv Amyloidosis |
|
Paraproteinemia |
ORPHA:439232 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level |
OMIM:114065 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Conjunctival telangiectasia, Increased circulating antibody level |
OMIM:606002 |
Cysticercosis |
|
Iridocyclitis, Increased circulating antibody level, Infectious encephalitis |
ORPHA:1560 |
Gaucher Disease Type 3 |
|
Splenomegaly, Increased circulating antibody level |
ORPHA:77261 |
Yellow Fever |
|
Increased circulating interleukin 6 concentration, Acute pancreatitis, Skin rash, Jaundice, Pancr... |
ORPHA:99829 |