Uncombable Hair Syndrome 3 |
|
Uncombable hair, Curly hair, Pili canaliculi |
OMIM:617252 |
Pseudopili Annulati |
|
Abnormality of hair texture, Abnormality of the scalp hair |
OMIM:613241 |
Ringed Hair Disease |
|
Abnormal hair pattern, Fine hair |
ORPHA:169 |
Pili Bifurcati |
|
Abnormality of hair texture, Abnormal hair morphology |
ORPHA:720 |
Acne Inversa, Familial, 3 |
|
Perifolliculitis, Acne inversa, Chronic furunculosis, Recurrent cutaneous abscess formation |
OMIM:613737 |
Mannose-Binding Lectin Deficiency |
|
Recurrent skin infections, Recurrent Klebsiella infections, Recurrent meningococcal disease, Diss... |
OMIM:614372 |
Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Sparse hair, Sparse eyelashes, Trichorrhexis nodosa, Fine hair, Curly hair |
OMIM:616760 |
Hypotrichosis Simplex Of The Scalp |
|
Sparse scalp hair, Epidermal acanthosis, Atopic dermatitis, Allergic rhinitis, Hyperkeratosis, Fi... |
ORPHA:90368 |
Immunodeficiency 51 |
|
Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio... |
OMIM:613953 |
Uncombable Hair Syndrome 2 |
|
Uncombable hair, Pili canaliculi |
OMIM:617251 |
Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Erythema, Hyperkeratosis, Scaling skin, Pruritus, Orthokeratotic hyperkeratosis |
OMIM:617571 |
Epidermolytic Hyperkeratosis |
|
Erythroderma, Epidermal acanthosis, Scaling skin, Palmoplantar hyperkeratosis |
OMIM:113800 |
Ulerythema Ophryogenesis |
|
Dry skin, Follicular hyperkeratosis, Facial erythema, Contact dermatitis, Acne, Hyperkeratotic pa... |
ORPHA:3406 |
Complement Component 7 Deficiency |
|
Recurrent meningococcal disease, Recurrent Neisserial infections |
OMIM:610102 |
Hypotrichosis 4 |
|
Sparse scalp hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair, Alopecia, Uncombable hair |
OMIM:146550 |
Krt1-Related Diffuse Nonepidermolytic Keratoderma |
|
Diffuse palmoplantar hyperkeratosis, Atopic dermatitis, Erythema, Dry skin, Palmoplantar scaling ... |
ORPHA:530838 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, Severe recurrent varicella |
OMIM:300645 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Perifolliculitis, Alopecia, Alopecia of scalp |
OMIM:260910 |
Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Erythroderma, Epidermal acanthosis, Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis |
OMIM:133200 |
Kerion Celsi |
|
Alopecia, Inflammatory abnormality of the skin, Recurrent cutaneous abscess formation, Recurrent ... |
ORPHA:499 |
Familial Reactive Perforating Collagenosis |
|
Inflammatory abnormality of the skin, Abnormal epidermal morphology, Perifolliculitis, Maculopapu... |
ORPHA:79147 |
Uncombable Hair Syndrome |
|
Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair |
ORPHA:1410 |
Witkop Syndrome |
|
Sparse hair, Ridged nail, Fine hair, Concave nail, Nail pits, Small nail |
OMIM:189500 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Sparse scalp hair, Sparse eyebrow, Sparse eyelashes, Palmoplantar hyperkeratosis, Hyperkeratosis,... |
OMIM:602540 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent protozoan infections, Recurrent viral infections, Recurrent bacterial infections |
OMIM:308220 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Epidermal acanthosis, Congenital alopecia totalis, Sparse eyebrow, Cutis laxa, Absent pubic hair,... |
ORPHA:2269 |
Peeling Skin Syndrome 1 |
|
Brittle hair, Scaling skin, Nail dystrophy, Pruritus, Erythroderma, Onycholysis |
OMIM:270300 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Epidermal acanthosis, Orthokeratosis, White scaling skin, Erythroderma, Palmoplantar keratoderma,... |
OMIM:604777 |
Verrucous Hemangioma |
|
Hyperkeratotic papule, Epidermal acanthosis, Inflammatory abnormality of the skin |
ORPHA:464318 |
Bathing Suit Ichthyosis |
|
Epidermal acanthosis, Sparse hair, Alopecia, Palmoplantar hyperkeratosis, Scaling skin, Nail dyst... |
ORPHA:100976 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Epidermal acanthosis, Orthokeratosis, Dry skin, Hyperkeratosis, Scaling skin, Erythroderma, Palmo... |
OMIM:612281 |
Psoriasis 2 |
|
Epidermal acanthosis, Psoriasiform dermatitis, Hyperkeratosis, Scaling skin, Parakeratosis |
OMIM:602723 |
Ichthyosis Prematurity Syndrome |
|
Epidermal acanthosis, Follicular hyperkeratosis, Allergic rhinitis, Pruritus, Erythroderma, Alope... |
OMIM:608649 |
Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Nail dysplasia, Dry skin, Palmoplantar hyperkeratosis, Alopecia totalis, Facial erythema, Hyperke... |
OMIM:212360 |
Ichthyosis With Confetti |
|
Hypertrichosis, Palmoplantar hyperkeratosis, Hypoplastic nipples, Scaling skin, Pruritus, Erythro... |
OMIM:609165 |
Ichthyosis, Congenital, Autosomal Recessive 7 |
|
Erythroderma, Palmoplantar keratoderma, Epidermal acanthosis |
OMIM:615022 |
Ichthyosis Vulgaris |
|
Absent keratohyalin granules, Eczematoid dermatitis, Dry skin |
OMIM:146700 |
Complement Component 8 Deficiency, Type Ii |
|
Meningitis, Recurrent Neisserial infections |
OMIM:613789 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Nail dysplasia, Epidermal acanthosis, Sparse hair, Alopecia, Palmoplantar hyperkeratosis, Nail dy... |
OMIM:242300 |
Dissecting Cellulitis Of The Scalp |
|
Abnormal hair morphology, Pruritus, Recurrent skin infections |
ORPHA:345 |
Oculotrichodysplasia |
|
Nail dysplasia, Sparse scalp hair, Sparse axillary hair, Sparse eyelashes, Fragile nails, Sparse ... |
OMIM:257960 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... |
ORPHA:70592 |
Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Pili torti, Brittle hair, Alopecia, Sparse body hair, Sparse eyebrow, Coarse h... |
ORPHA:3361 |
Pityriasis Rubra Pilaris |
|
Pustule, Eczema, Subungual hyperkeratosis, Pruritus, Erythroderma, Palmoplantar keratoderma, Abno... |
ORPHA:2897 |
Acrokeratoderma, Hereditary Papulotranslucent |
|
Fine hair |
OMIM:101840 |
Lamellar Ichthyosis |
|
Sparse hair, Aplasia/Hypoplasia of the eyebrow, Lack of skin elasticity, Chronic otitis media, Dr... |
ORPHA:313 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis |
OMIM:613796 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Woolly Hair, Autosomal Dominant |
|
Woolly hair, Coarse hair, Dry hair, Slow-growing hair, Abnormal hair morphology |
OMIM:194300 |
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Epidermal acanthosis, Leukonychia, Onycholysis, Hyperkeratosis, Scaling skin, Palmoplantar kerato... |
OMIM:616295 |
Ficolin 3 Deficiency |
|
Necrotizing enterocolitis, Recurrent abscess formation, Recurrent lower respiratory tract infecti... |
OMIM:613860 |
Hypotrichosis 6 |
|
Pili torti, Sparse hair, Brittle hair, Sparse eyelashes, Sparse eyebrow, Erythema, Follicular hyp... |
OMIM:607903 |
Uncombable Hair Syndrome 1 |
|
Uncombable hair, Dry hair, Pili canaliculi |
OMIM:191480 |
Peeling Skin Syndrome 4 |
|
Epidermal acanthosis, Orthokeratosis, Hyperkeratosis, Scaling skin, Nail dystrophy, Palmoplantar ... |
OMIM:607936 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Erythroderma, Palmoplantar keratoderma, Hyperkeratosis, Skin ulcer |
ORPHA:312 |
Intellectual Developmental Disorder, Fra12A Type |
|
Erythroderma, Hyperkeratosis |
OMIM:136630 |
Amyloidosis, Primary Localized Cutaneous, 3 |
|
Dry skin, Pruritus |
OMIM:617920 |
Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
Acquired Ichthyosis |
|
Recurrent skin infections, Erythema, Dry skin, Hyperkeratosis, Pruritus, Palmoplantar keratoderma |
ORPHA:454 |
Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Erythroderma, Palmoplantar keratoderma, Hyperkeratosis, Orthokeratotic hyperkeratosis |
OMIM:615024 |
Classic Mycosis Fungoides |
|
Skin rash, Alopecia, Eczema, Erythema, Dry skin, Hyperkeratosis, Pruritus, Skin ulcer, Abnormalit... |
ORPHA:2584 |
Candidiasis, Familial, 1 |
|
Recurrent viral infections, Chronic mucocutaneous candidiasis, Alopecia |
OMIM:114580 |
Bazex Syndrome |
|
Yellow nails, Hyperkeratosis, Scaling skin, Nail dystrophy, Pruritus, Palmoplantar keratoderma, P... |
ORPHA:166113 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media |
OMIM:616022 |
Tooth Agenesis, Selective, 8 |
|
Dry skin, Sparse hair, Sparse eyebrow |
OMIM:617073 |
Congenital Disorder Of Glycosylation, Type If |
|
Erythroderma, Hyperkeratosis, Scaling skin, Dry skin |
OMIM:609180 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Pili torti, Blepharitis, Sparse hair, Brittle hair, Sparse eyelashes, Sparse body hair, Sparse ey... |
OMIM:602400 |
Pili Torti-Onychodysplasia Syndrome |
|
Alopecia universalis, Absent eyebrow, Brittle hair, Alopecia, Sparse body hair, Congenital onycho... |
ORPHA:2890 |
Acrokeratosis Verruciformis |
|
Epidermal acanthosis, Hyperkeratosis, Ridged nail |
OMIM:101900 |
Chronic Actinic Dermatitis |
|
Epidermal acanthosis, Eczema, Allergic rhinitis, Late onset atopic dermatitis, Pruritus, Erythrod... |
ORPHA:330064 |
Complement Component 5 Deficiency |
|
Recurrent meningococcal disease, Generalized seborrheic dermatitis, Recurrent Neisserial infections |
OMIM:609536 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Orthokeratosis, Sparse hair, Recurrent skin infections, Acantholysis, Erythroderma, Palmoplantar ... |
OMIM:615508 |
Congenital Non-Bullous Ichthyosiform Erythroderma |
|
Keratitis, Alopecia, Pruritus, Erythroderma, Palmoplantar keratoderma, Abnormality of the nail |
ORPHA:79394 |
Chand Syndrome |
|
Nail dysplasia, Curly hair |
OMIM:214350 |
Angioma Serpiginosum, X-Linked |
|
Fine hair, Sparse hair, Nail dystrophy |
OMIM:300652 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Keratitis, Blepharitis, Folliculitis, Sparse eyebrow, Sparse eyelashes, Dry skin, Follicular hype... |
OMIM:308800 |
Myelolymphatic Insufficiency |
|
Recurrent viral infections, Recurrent bacterial infections |
OMIM:310350 |
Loose Anagen Hair Syndrome |
|
Loose anagen hair, Fair hair, Sparse hair |
OMIM:600628 |
Dermatitis, Atopic |
|
Recurrent skin infections, Pallor, Eczema, Atopic dermatitis, Dry skin, Facial erythema, Allergic... |
OMIM:603165 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Epidermal acanthosis, Orthokeratosis, Alopecia, Palmoplantar hyperkeratosis, Hyperkeratosis, Scal... |
ORPHA:79395 |
Cd8 Deficiency, Familial |
|
Bronchiectasis, Recurrent viral infections, Recurrent bacterial infections, Recurrent respiratory... |
OMIM:608957 |
Pemphigus Foliaceus |
|
Pustule, Erythema, Acantholysis, Crusting erythematous dermatitis, Pruritus, Scaling skin, Erythr... |
ORPHA:79481 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent bacterial infections, Recurrent respiratory infections |
OMIM:613495 |
Skin Fragility-Woolly Hair Syndrome |
|
Woolly hair, Sparse eyebrow, Alopecia, Sparse eyelashes, Palmoplantar erythema, Palmoplantar scal... |
OMIM:607655 |
Monilethrix |
|
Nail dysplasia, Abnormality of hair texture, Sparse hair, Brittle hair, Alopecia, Nail dystrophy |
OMIM:158000 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse scalp hair, Alopecia, Sparse axillary hair, Sparse pubic hair, Perifollicular hyperkeratos... |
ORPHA:505 |
Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Sparse hair, Absent eyebrow, Palmoplantar hyperkeratosis, Scaling skin, Absent eyelashes, Dystrop... |
OMIM:604536 |
Sézary Syndrome |
|
Alopecia, Dry skin, Nail dystrophy, Pruritus, Erythroderma, Palmoplantar keratoderma |
ORPHA:3162 |
Erythrokeratodermia Variabilis |
|
Generalized hirsutism, Skin rash, Alopecia, Erythema, Dry skin, Patchy palmoplantar hyperkeratosi... |
ORPHA:317 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent candida infections, Recurrent bacterial infections |
OMIM:242870 |
Marie Unna Hereditary Hypotrichosis |
|
Sparse scalp hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Coarse hair, Sparse or absent eye... |
ORPHA:444 |
Quinquaud Folliculitis Decalvans |
|
Pustule, Patchy alopecia, Recurrent skin infections, Scarring alopecia of scalp, Abnormal hair mo... |
ORPHA:346 |
Immunodeficiency 12 |
|
Recurrent viral infections, Recurrent bacterial infections |
OMIM:615468 |
Amyloidosis, Primary Localized Cutaneous, 1 |
|
Dry skin, Scaling skin, Cutis laxa, Pruritus |
OMIM:105250 |
Olmsted Syndrome 2 |
|
Alopecia universalis, Cheilitis, Epidermal acanthosis, Woolly hair, Sparse hair, Palmoplantar hyp... |
OMIM:619208 |
Hypotrichosis 1 |
|
Sparse hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair, Sparse axillary hair, Sparse pub... |
OMIM:605389 |
Immunodeficiency 35 |
|
Recurrent mycobacterial infections, Recurrent viral infections, Recurrent fungal infections, Recu... |
OMIM:611521 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent bronchitis, Recurrent respiratory infections, Recurrent... |
OMIM:613501 |
Keratosis Palmoplantaris Striata Ii |
|
Palmoplantar keratoderma, Epidermal acanthosis |
OMIM:612908 |
Immunodeficiency 84 |
|
Recurrent bacterial infections, Perianal abscess, Persistent EBV viremia |
OMIM:619437 |
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome |
|
Pili torti, Abnormality of hair texture, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyel... |
ORPHA:2891 |
Cole Disease |
|
Palmoplantar keratoderma, Hyperkeratosis, Epidermal acanthosis |
OMIM:615522 |
Woolly Hair |
|
Abnormality of hair texture, Woolly hair, Brittle hair, Sparse body hair, Hypopigmentation of hai... |
ORPHA:170 |
Immunodeficiency 61 |
|
Frequent Giardia lamblia infestation, Recurrent bacterial infections, Arthritis, Recurrent sinusi... |
OMIM:300310 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Dry skin, Abnormal fingernail morphology, Fine hair, Abnormal toenail morphology, Abnor... |
ORPHA:248 |
Ectodermal Dysplasia 4, Hair/Nail Type |
|
Pili torti, Absent eyebrow, Brittle hair, Alopecia, Sparse body hair, Temporal hypotrichosis, Con... |
OMIM:602032 |
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Epidermal acanthosis, Hyperkeratosis |
OMIM:615028 |
Hair Defect With Photosensitivity And Mental Retardation |
|
Sparse hair, Sparse eyebrow, Brittle hair, Sparse eyelashes, Coarse hair |
OMIM:234030 |
Dermoodontodysplasia |
|
Nail dysplasia, Dry skin, Trichodysplasia |
OMIM:125640 |
Pili Torti |
|
Pili torti, Abnormal eyebrow morphology, Abnormality of hair texture, Brittle hair, Alopecia, Abn... |
ORPHA:2889 |
Netherton Syndrome |
|
Sparse scalp hair, Skin rash, Sparse eyebrow, Sparse eyelashes, Eczema, Trichorrhexis nodosa, Dry... |
ORPHA:634 |
Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Erythroderma, Epidermal acanthosis, Orthokeratosis, Hyperkeratosis |
OMIM:615023 |
Peeling Skin Syndrome 5 |
|
Epidermal acanthosis, Hyperkeratosis |
OMIM:617115 |
Complement Factor B Deficiency |
|
Recurrent bacterial infections, Peritonitis, Recurrent meningococcal disease, Meningitis, Pneumonia |
OMIM:615561 |
Mal De Meleda |
|
Epidermal acanthosis, Inflammatory abnormality of the skin, Erythema, Superficial dermal perivasc... |
ORPHA:87503 |
Idiopathic Localized Lipodystrophy |
|
Inflammatory abnormality of the skin, Erythema, Scaling skin, Pruritus |
ORPHA:90158 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Pustule, Psoriasiform lesion, Superficial dermal perivascular inflammatory infiltrate, Scaling sk... |
ORPHA:284426 |
Centrifugal Lipodystrophy |
|
Inflammatory abnormality of the skin, Alopecia, Lymphadenitis, Erythema, Scaling skin |
ORPHA:90156 |
Hypotrichosis Simplex |
|
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Sparse body hair, Sparse eyelashes |
ORPHA:55654 |
Netherton Syndrome |
|
Sparse scalp hair, Brittle hair, Sparse eyebrow, Brittle scalp hair, Allergic rhinitis, Erythrode... |
OMIM:256500 |
Palmoplantar Keratoderma, Nagashima Type |
|
Epidermal acanthosis, Orthokeratotic hyperkeratosis |
OMIM:615598 |
Acral Peeling Skin Syndrome |
|
Eczema, Erythema, Excessive wrinkling of palmar skin, Scaling skin |
ORPHA:263534 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Blepharitis, Perioral erythema, Pustule, Paronychia, Perianal erythema, Onychogryposis, Erythroderma |
OMIM:614328 |
Alopecia Areata 2 |
|
Alopecia totalis, Alopecia universalis, Patchy alopecia, Alopecia of scalp |
OMIM:610753 |
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Sparse hair, Sparse eyebrow, Sparse eyelashes, Dry skin, Ridged nail, Fine hair, Slow-growing hair |
OMIM:129490 |
Huriez Syndrome |
|
Lack of skin elasticity, Dry skin, Palmoplantar keratoderma, Abnormality of the nail, Small nail |
ORPHA:384 |
Benign Cephalic Histiocytosis |
|
Inflammatory abnormality of the skin, Skin rash |
ORPHA:157997 |
Congenital Lethal Erythroderma |
|
Congenital exfoliative erythroderma, Dry skin |
ORPHA:1954 |
Elastosis Perforans Serpiginosa |
|
Hyperkeratotic papule, Epidermal acanthosis, Crusting erythematous dermatitis, Cutis laxa |
ORPHA:79148 |
Hypotrichosis 12 |
|
Sparse hair, Aplasia/Hypoplasia of the eyebrow, Dry hair, Sparse or absent eyelashes, Slow-growin... |
OMIM:615885 |
Hypotrichosis 8 |
|
Sparse scalp hair, Woolly hair, Fair hair, Sparse hair, Sparse axillary hair, Sparse eyelashes, S... |
OMIM:278150 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Recurrent candida infections, Recurrent mycobacterial infections, Histoplasmosis, Severe toxoplas... |
ORPHA:319552 |
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism |
|
Woolly scalp hair, Woolly hair, Alopecia |
OMIM:601217 |
Erosive Pustular Dermatosis Of The Scalp |
|
Erythema, Scarring alopecia of scalp, Abnormal hair morphology, Pustule |
ORPHA:222 |
Sabinas Brittle Hair Syndrome |
|
Nail dysplasia, Sparse hair, Brittle hair, Dry hair, Nail dystrophy |
OMIM:211390 |
Atrophoderma Vermiculata |
|
Abnormal epidermal morphology, Erythema, Follicular hyperkeratosis, Pruritus, Hyperkeratotic papule |
ORPHA:79100 |
Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Epidermal acanthosis, Hyperkeratosis, Erythema, Palmoplantar hyperkeratosis |
OMIM:617526 |
Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Palmoplantar keratoderma, Hyperkeratosis, Recurrent cutaneous fungal infections |
OMIM:244850 |
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection |
|
Cutaneous abscess, Chronic furunculosis |
OMIM:619986 |
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Woolly hair, Sparse hair |
OMIM:278200 |
Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Palmoplantar keratoderma, Hyperkeratosis, Erythema, Epidermal acanthosis |
OMIM:617525 |
Pili Torti, Early-Onset |
|
Pili torti, Hair shafts flattened at irregular intervals and twisted through 180 degrees about th... |
OMIM:261900 |
Corneodermatoosseous Syndrome |
|
Erythroderma, Onycholysis, Palmoplantar hyperkeratosis |
OMIM:122440 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infections |
OMIM:614868 |
Cardiofaciocutaneous Syndrome 2 |
|
Fine hair, Sparse hair, Curly hair, Absent eyebrow |
OMIM:615278 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Recurrent skin infections, Alopecia, Eczema, Atopic dermatitis, Chronic mucocutaneous candidiasis... |
OMIM:618282 |
Hypotrichosis 11 |
|
Alopecia universalis, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes,... |
OMIM:615059 |
Naxos Disease |
|
Sparse scalp hair, Abnormality of hair texture, Woolly hair, Curly hair |
ORPHA:34217 |
Hypotrichosis 5 |
|
Sparse eyelashes, Alopecia, Thin eyebrow, Absent pubic hair, Absent axillary hair |
OMIM:612841 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Epidermal acanthosis, Orthokeratosis, Sparse hair, Alopecia, Sparse eyelashes, Dry skin, Cholangi... |
OMIM:607626 |
Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Salmonella osteomyelitis, Recurrent mycobacterium avium compl... |
OMIM:615978 |
Aicardi-Goutieres Syndrome 5 |
|
Dry skin, Scaling skin, Chilblains |
OMIM:612952 |
Hidrotic Ectodermal Dysplasia |
|
Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Generalized hypotrichosis, Anonychia, ... |
ORPHA:189 |
Olmsted Syndrome, X-Linked |
|
Blepharitis, Posterior blepharitis, Epidermal acanthosis, Subungual hyperkeratosis, Palmoplantar ... |
OMIM:300918 |
Epidermolysis Bullosa Dystrophica, Pretibial |
|
Nail dystrophy, Hyperkeratosis, Pruritus |
OMIM:131850 |
Trichothiodystrophy 1, Photosensitive |
|
Pili torti, Sparse hair, Brittle hair, Tiger tail banding, Fragile nails, Trichorrhexis nodosa, D... |
OMIM:601675 |
Onychogryposis, Pedal, With Keratosis Plantaris And Coarse Hair |
|
Coarse hair, Dry hair, Sparse hair, Onychogryposis of toenails |
OMIM:164680 |
Anonychia With Flexural Pigmentation |
|
Anonychia, Dry skin |
OMIM:106750 |
Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Epidermal acanthosis, Hyperkeratosis, Seborrheic dermatitis |
OMIM:610227 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Nail dysplasia, Leukonychia, Sparse hair, Brittle hair, Alopecia, Sparse eyebrow, Palmoplantar er... |
OMIM:104100 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Perifolliculitis, Acne inversa, Chronic furunculosis, Recurrent cutaneous abscess formation |
OMIM:613736 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Sparse scalp hair, Epidermal acanthosis, Leukonychia, Sparse hair, Sparse eyebrow, Sparse axillar... |
OMIM:613102 |
Alopecia-Intellectual Disability Syndrome 4 |
|
Erythroderma, Alopecia |
OMIM:618840 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Keratitis, Nail dysplasia, Absent eyebrow, Alopecia, Dry skin, Follicular hyperkeratosis, Scaling... |
OMIM:308205 |
Hypotrichosis 14 |
|
Sparse body hair, Sparse hair |
OMIM:618275 |
Copper Deficiency, Familial Benign |
|
Early balding, Curly hair, Seborrheic dermatitis |
OMIM:121270 |
Ichthyosis, Lamellar, Autosomal Dominant |
|
Hyperkeratosis, Pruritus |
OMIM:146750 |
Omenn Syndrome |
|
Alopecia, Aplasia/Hypoplasia of the eyebrow, Dry skin, Pruritus, Pneumonia, Erythroderma, Thyroid... |
ORPHA:39041 |
Ichthyosis Hystrix Of Curth-Macklin |
|
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Nail dystrophy, Recurrent skin infections |
ORPHA:79503 |
Candidiasis, Familial, 8 |
|
Blepharitis, Onychomycosis, Seborrheic dermatitis |
OMIM:615527 |
Leopard Syndrome 3 |
|
Dry skin, Hyperkeratosis, Epidermal hyperkeratosis, Curly hair, Low posterior hairline |
OMIM:613707 |
Hypotrichosis 7 |
|
Sparse scalp hair, Woolly hair, Sparse hair, Brittle hair, Sparse axillary hair, Sparse eyelashes... |
OMIM:604379 |
Immunodeficiency 15A |
|
Acne inversa, Recurrent sinusitis, Chronic mucocutaneous candidiasis, Recurrent otitis media, Cut... |
OMIM:618204 |
Crandall Syndrome |
|
Pili torti, Brittle hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse body hair, Fine hair |
ORPHA:202 |
Immunodeficiency, Common Variable, 4 |
|
Recurrent sinusitis, Recurrent bacterial infections, Recurrent pneumonia |
OMIM:613494 |
Palmoplantar Keratoderma And Woolly Hair |
|
Sparse scalp hair, Leukonychia, Woolly hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair |
OMIM:616099 |
Monilethrix |
|
Abnormal eyebrow morphology, Sparse hair, Patchy alopecia, Brittle hair, Abnormal eyelash morphol... |
ORPHA:573 |
Immunodeficiency 66 |
|
Meningitis, Sepsis, Pustule, Recurrent skin infections |
OMIM:618847 |
Pseudopelade Of Brocq |
|
Sparse scalp hair, Cheilitis, Alopecia, Aplasia/Hypoplasia of the eyebrow, Recurrent skin infecti... |
ORPHA:129 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Re... |
OMIM:613779 |
Odontoonychodermal Dysplasia |
|
Nail dysplasia, Sparse scalp hair, Epidermal acanthosis, Orthokeratosis, Sparse eyebrow, Short na... |
OMIM:257980 |
Peeling Skin Syndrome 2 |
|
Erythema, Scaling skin |
OMIM:609796 |
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Nail dystrophy, Plantar hyperkeratosis, Pruritus, Alopecia |
OMIM:616487 |
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Blepharitis, Sparse eyelashes, Sparse body hair, Dry skin, Slow-growing hair |
OMIM:618535 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Leukonychia, Woolly hair, Fragile nails, Erythema, Hyperkeratosis, Nail dystrophy, Pruritus, Palm... |
OMIM:615821 |
Immunodeficiency 50 |
|
Eczema, Recurrent urinary tract infections, Recurrent respiratory infections |
OMIM:300988 |
Bullous Diffuse Cutaneous Mastocytosis |
|
Erythroderma, Pruritus |
ORPHA:280785 |
Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
Hypotrichosis 13 |
|
Abnormal sweat gland morphology, Woolly hair, Sparse hair, Sparse eyelashes |
OMIM:615896 |
Ichthyosis, Spastic Quadriplegia, And Mental Retardation |
|
Hyperkeratosis, Erythema, Dry skin, Scaling skin |
OMIM:614457 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections |
OMIM:233670 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Atopic dermatitis, Recurrent upper respiratory tract infections, Nail dystrophy, Pneumonia |
OMIM:618806 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent mycobacterial infections, Recurrent gastroenteritis, Recurrent upper and lower respirat... |
ORPHA:275 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections, Recurrent... |
OMIM:605258 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness |
|
Recurrent bronchitis, Chronic sinusitis, Recurrent Haemophilus influenzae infections, Otitis media |
OMIM:300455 |
Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
Immune Deficiency Disease |
|
Recurrent viral infections, Recurrent bacterial infections, Fulminant hepatitis, Cholangitis |
OMIM:242850 |
Recessive X-Linked Ichthyosis |
|
Hyperkeratosis, Dry skin |
ORPHA:461 |
Trichodental Dysplasia |
|
Fine hair, Sparse hair, Brittle hair, Slow-growing hair |
OMIM:601453 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Recurrent candida infections, Chronic oral candidiasis, Otitis media, Recurrent herpes, Hepatitis... |
ORPHA:169160 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent bacterial infections, Meningitis, Recurrent pneumonia, Recurrent otitis media, Recurren... |
OMIM:613500 |
Carvajal Syndrome |
|
Woolly hair |
ORPHA:65282 |
Björnstad Syndrome |
|
Brittle hair, Alopecia |
ORPHA:123 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Hypoplastic toenails, Dry skin, Abnormal fingernail morphology, Hyperkeratosis, Fine hair, Onycho... |
ORPHA:1028 |
Vulvovaginal Gingival Syndrome |
|
Epidermal acanthosis, Erythema, Ridged nail, Pruritus, Parakeratosis |
ORPHA:83453 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Sparse eyebrow, Sparse eyelashes, Patchy alopecia, Coarse hair, Scarring alopecia of scalp, Abnor... |
ORPHA:35173 |
Dermoodontodysplasia |
|
Sparse scalp hair, Toenail dysplasia, Sparse body hair, Fingernail dysplasia, Dry skin, Trichodys... |
ORPHA:1660 |
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Epidermal acanthosis, Yellow nails, Onycholysis, Palmoplantar hyperkeratosis, Nail dystrophy, Pal... |
OMIM:148700 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Recurrent bacterial infections, Eczematoid dermatitis, Seborrheic dermatitis |
OMIM:619693 |
Griscelli Syndrome, Type 2 |
|
Silver-gray hair, Recurrent bacterial infections, Melanin pigment aggregation in hair shafts |
OMIM:607624 |
Noonan Syndrome 8 |
|
Palmoplantar cutis laxa, Eczema, Hyperkeratosis, Curly hair |
OMIM:615355 |
Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome |
|
Dry skin |
ORPHA:2271 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Sparse hair, Alopecia, Fragile nails, Erythroderma, Palmoplantar keratoderma, Conjunctivitis |
OMIM:242150 |
Rare Cutaneous Lupus Erythematosus |
|
Discoid lupus rash, Cheilitis, Maculopapular exanthema, Neutrophilic infiltration of the skin, Le... |
ORPHA:535 |
Ichthyosis, Congenital, Autosomal Recessive 12 |
|
White scaling skin |
OMIM:617320 |
Peeling Skin Syndrome 3 |
|
White scaling skin |
OMIM:616265 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Palmoplantar keratoderma, Woolly hair |
OMIM:610476 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Alopecia universalis, Chronic oral candidiasis, Patchy alopecia, Psoriasiform dermatitis, Eczema,... |
OMIM:606367 |
Porokeratosis Of Mibelli |
|
Hyperkeratosis, Pruritus |
ORPHA:735 |
Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Recurrent bronchitis, Nephritis, Arthritis |
OMIM:216950 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Blepharitis, Recurrent bacterial skin infections, Pustule, Erythema, Horizontal eyebrow, Scaling ... |
ORPHA:294023 |
Phenylketonuria |
|
Eczema, Fair hair, Dry skin |
OMIM:261600 |
Immunodeficiency 104 |
|
Otitis media, Eczema, Recurrent opportunistic infections, Chronic mucocutaneous candidiasis, Pneu... |
OMIM:608971 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Sparse scalp hair, Absent hair, Absent eyebrow, Sparse eyebrow, Sparse eyelashes, Trichorrhexis n... |
ORPHA:1010 |
Grubben-De Cock-Borghgraef Syndrome |
|
Eczema, Dry skin |
ORPHA:2101 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Epidermal acanthosis, Hyperkeratosis, Anonychia, Nail dystrophy |
OMIM:616029 |
Epidermolytic Palmoplantar Keratoderma |
|
Epidermal acanthosis, Palmar hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar hy... |
ORPHA:2199 |
Erythroderma, Lethal Congenital |
|
Congenital exfoliative erythroderma |
OMIM:227090 |
Leopard Syndrome 2 |
|
Curly hair, Dry skin |
OMIM:611554 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Hypertrichosis, Cutis laxa, Eczema, Dry skin, Hyperkeratosis |
OMIM:612379 |
Bleeding Disorder, Platelet-Type, 21 |
|
Recurrent viral infections, Eczema, Psoriasiform dermatitis, Alopecia |
OMIM:617443 |
Bjornstad Syndrome |
|
Pili torti, Hair shafts flattened at irregular intervals and twisted through 180 degrees about th... |
OMIM:262000 |
Neutropenia, Severe Congenital, X-Linked |
|
Recurrent bacterial infections, Eczema |
OMIM:300299 |
Prolidase Deficiency |
|
Hirsutism, Generalized hirsutism, Low anterior hairline, Erythema, Dry skin, Abnormal fingernail ... |
ORPHA:742 |
Naxos Disease |
|
Epidermal acanthosis, Woolly hair, Sparse eyebrow, Sparse body hair, Diffuse palmoplantar hyperke... |
OMIM:601214 |
Spinocerebellar Ataxia 34 |
|
Erythroderma, Epidermal hyperkeratosis |
OMIM:133190 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent bacterial infections, Recurrent sinusitis, Recurrent otitis media, Conjunctivitis, Recu... |
OMIM:613493 |
Ectodermal Dysplasia 7, Hair/Nail Type |
|
Sparse scalp hair, Sparse eyebrow, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland... |
OMIM:614929 |
Non-Epidermolytic Palmoplantar Keratoderma |
|
Diffuse palmoplantar hyperkeratosis, Skin ulcer, Erythema, Pruritus |
ORPHA:2337 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Osteomyelitis, Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections,... |
OMIM:608184 |
Trichothiodystrophy 7, Nonphotosensitive |
|
Brittle hair, Tiger tail banding |
OMIM:618546 |
Kid Syndrome |
|
Keratitis, Sparse hair, Sparse eyebrow, Acne inversa, Punctate keratitis, Onychogryposis, Epiderm... |
ORPHA:477 |
Omenn Syndrome |
|
Recurrent fungal infections, Alopecia, Recurrent bacterial infections, Pneumonia, Erythroderma, R... |
OMIM:603554 |
Bullous Impetigo |
|
Recurrent bacterial skin infections, Sepsis, Pustule, Septic arthritis |
ORPHA:36237 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Dry skin, Follicular hyperkeratosis |
OMIM:617066 |
Sjögren-Larsson Syndrome |
|
Dry skin, Hyperkeratosis, Erythema, Inflammatory abnormality of the eye |
ORPHA:816 |
Harlequin Ichthyosis |
|
Erythroderma, Hyperkeratosis |
ORPHA:457 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Pruritis on hand, Eczematoid dermatitis, Pruritus on foot, Palmoplantar erythema, Palmar pruritus... |
ORPHA:64745 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Alopecia universalis, Cheilitis, Sparse hair, Recurrent skin infections, Follicular hyperkeratosi... |
ORPHA:158668 |
Hypohidrotic Ectodermal Dysplasia |
|
Sinusitis, Abnormal hair quantity, Aplasia/Hypoplasia of the eyebrow, Eczema, Trichorrhexis nodos... |
ORPHA:238468 |
Onychotrichodysplasia And Neutropenia |
|
Short eyelashes, Trichorrhexis nodosa, Curly eyelashes, Sparse pubic hair, Concave nail, Curly ha... |
OMIM:258360 |
Psoriasis 14, Pustular |
|
Epidermal acanthosis, Oligoarthritis, Parakeratosis, Pustule, Erythema, Nail dystrophy, Cholangit... |
OMIM:614204 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Erythroderma, Psoriasiform lesion, Alopecia |
ORPHA:169154 |
Choroidal Atrophy-Alopecia Syndrome |
|
Sparse hair, Supernumerary nipple, Sparse or absent eyelashes, Abnormal fingernail morphology, Fi... |
ORPHA:1433 |
Acrokeratosis Verruciformis Of Hopf |
|
Epidermal acanthosis, Leukonychia, Anonychia, Hyperkeratosis, Punctate palmoplantar hyperkeratosi... |
ORPHA:79151 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Pustule, Skin rash, Interstitial pneumonitis, Erythema, Myocarditis, Hepatitis, Tubulointerstitia... |
ORPHA:139402 |
Cutaneous Mastocytoma |
|
Maculopapular exanthema, Erythema, Scaling skin, Pruritus |
ORPHA:79455 |
Cardiofaciocutaneous Syndrome 3 |
|
Hyperkeratosis, Curly hair |
OMIM:615279 |
Immunodeficiency 58 |
|
Colitis, Eczema, Chronic otitis media, Allergic rhinitis, Psoriasiform lesion, Chronic mucocutane... |
OMIM:618131 |
Diffuse Cutaneous Mastocytosis |
|
Erythroderma, Scaling skin, Pruritus |
ORPHA:79456 |
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance |
|
Eczema, Dry skin |
OMIM:612947 |
Congenital Disorder Of Glycosylation, Type Im |
|
Inflammatory abnormality of the skin, Sparse eyebrow, Sparse eyelashes, Alopecia, Dry skin, Hyper... |
OMIM:610768 |
Acral Self-Healing Collodion Baby |
|
Lack of skin elasticity, Erythema, Palmoplantar scaling skin |
ORPHA:281127 |
Congenital Heart Defects And Ectodermal Dysplasia |
|
Sparse scalp hair, Fragile nails, Dry skin |
OMIM:617364 |
Chilblain Lupus |
|
Pruritis on hand, Discoid lupus rash, Inflammatory abnormality of the skin, Skin rash, Hyperkerat... |
ORPHA:90280 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Recurrent fungal infections, Eosinophilic infiltration of the esophagus, Eczema, Atopic dermatiti... |
OMIM:243700 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent skin infections, Alopecia, Recurrent sinusitis, Recurrent pneumonia, Recurrent infectio... |
OMIM:616576 |
Infantile Digital Fibromatosis |
|
Epidermal acanthosis, Hyperkeratosis, Parakeratosis |
ORPHA:199267 |
Uv-Sensitive Syndrome 3 |
|
Dry skin |
OMIM:614640 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Recurrent bacterial infections, Epididymitis, Recurrent upper and lower respiratory tract infections |
OMIM:608106 |
Ameloonychohypohidrotic Syndrome |
|
Dry skin, Onycholysis, Seborrheic dermatitis |
OMIM:104570 |
Erythrokeratodermia Variabilis Et Progressiva 7 |
|
Woolly hair, Dystrophic toenail |
OMIM:619209 |
Trichothiodystrophy 6, Nonphotosensitive |
|
Slow-growing hair, Dry skin, Brittle hair, Tiger tail banding |
OMIM:616943 |
Complement Factor I Deficiency |
|
Recurrent streptococcus pneumoniae infections, Recurrent skin infections, Recurrent urinary tract... |
OMIM:610984 |
Bare Lymphocyte Syndrome, Type Ii |
|
Recurrent protozoan infections, Colitis, Viral hepatitis, Recurrent fungal infections, Recurrent ... |
OMIM:209920 |
Noonan Syndrome 5 |
|
Sparse eyebrow, Dry skin, Fine hair, Curly hair, Small nail |
OMIM:611553 |
Thyrotropin-Releasing Hormone Deficiency |
|
Dry skin |
OMIM:275120 |
Ectodermal Dysplasia With Mental Retardation And Syndactyly |
|
Dry skin, Sparse eyebrow, Onychogryposis of toenails |
OMIM:600906 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia, Eczema, Glomerulonephritis, Arthritis, Hepatitis, Erythroderma |
OMIM:304790 |
Night Blindness, Congenital Stationary, Type 1C |
|
Dry skin |
OMIM:613216 |
Dwarfism, Familial, With Muscle Spasms |
|
Sparse scalp hair, Fine hair, Brittle scalp hair |
OMIM:600771 |
Familial Melanoma |
|
Abnormal hair morphology, Dry skin |
ORPHA:618 |
Dowling-Degos Disease 4 |
|
Epidermal acanthosis |
OMIM:615696 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Abnormal hair quantity, Dry skin, Premature graying of hair, Low posterior hairline, Alopecia of ... |
ORPHA:2617 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent bronchitis, Chronic sinusitis, Recurrent pneumonia, Rec... |
OMIM:612692 |
Thymic Aplasia |
|
Recurrent candida infections, Sinusitis, Eczematoid dermatitis, Chronic oral candidiasis, Recurre... |
ORPHA:83471 |
Craniosynostosis-Mental Retardation-Clefting Syndrome |
|
Dry skin |
OMIM:218650 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Colitis, Perioral eczema, Recurrent sinusitis, Recurrent infections, Recurrent aphthous stomatitis |
OMIM:613960 |
Anhidrosis, Familial Generalized, With Abnormal Or Absent Sweat Glands |
|
Palmoplantar hyperkeratosis, Dry skin, Aplasia of the sweat glands |
OMIM:206600 |
Porphyria Cutanea Tarda, Type I |
|
Eczema, Hypertrichosis |
OMIM:176090 |
Rat-Bite Fever |
|
Oligoarthritis, Pancreatitis, Pustule, Skin rash, Maculopapular exanthema, Lymphadenitis, Endocar... |
ORPHA:31205 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Colitis, Petechiae, Skin rash, Maculopapular exanthema, Purpura, Infectious encephalitis, Ecchymo... |
ORPHA:540 |
Cardiofaciocutaneous Syndrome 4 |
|
Sparse hair, Absent eyebrow, Sparse eyelashes, Palmoplantar hyperkeratosis, Curly hair, Alopecia ... |
OMIM:615280 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2 |
|
Palmoplantar keratoderma, Hyperkeratosis |
OMIM:616400 |
Uv-Sensitive Syndrome 1 |
|
Dry skin |
OMIM:600630 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Rheumatoid arthritis, Sepsis, Epididymitis, Chronic sinusitis, Pneumonia, Recu... |
ORPHA:183675 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Hypoplastic toenails, Fragile nails, Ridged fingernail, Abnormal fingernail morphology, Hypoplast... |
ORPHA:2228 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Palmar hyperkeratosis, Plantar hyperkeratosis, Hyperkeratosis, Nail dystrophy, Pruritus |
ORPHA:79399 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Coarse hair, Curly hair, Synophrys |
OMIM:616351 |
Pachyonychia Congenita 2 |
|
Nail dysplasia, Sparse scalp hair, Folliculitis, Sparse eyebrow, Subungual hyperkeratosis, Dry ha... |
OMIM:167210 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Epidermal acanthosis, Long eyelashes, Recurrent pneumonia, Pustule |
OMIM:616069 |
Psoriasis 1, Susceptibility To |
|
Arthritis, Onychomadesis, Nail pits, Onycholysis, Psoriasiform dermatitis |
OMIM:177900 |
Lichen Planus Pemphigoides |
|
Blepharitis, Hyperkeratosis, Pruritus, Skin vesicle, Abnormality of the nail, Conjunctivitis |
ORPHA:254478 |
Zinc Deficiency, Transient Neonatal |
|
Eczema, Alopecia |
OMIM:608118 |
Clouston Syndrome |
|
Nail dysplasia, Blepharitis, Sparse eyebrow, Alopecia, Brittle hair, Sparse eyelashes, Absent pub... |
OMIM:129500 |
Lichen Planopilaris |
|
Alopecia, Abnormal fingernail morphology, Hepatitis, Hyperkeratosis, Pruritus, Skin ulcer, Onycho... |
ORPHA:525 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Fragile nails, Fine hair |
ORPHA:500166 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Eczematoid dermatitis, Recurrent fungal infections, Skin rash, Chronic mucocutaneous candidiasis,... |
OMIM:147060 |
Cortisone Reductase Deficiency 1 |
|
Alopecia, Hirsutism, Acne |
OMIM:604931 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent bacterial infections, Chronic sinusitis, Recurrent pneumonia, Recurrent otitis media |
OMIM:613502 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Crohn's disease, Colitis, Enterocolitis, Folliculitis, Pyoderma, Perianal abscess |
OMIM:613148 |
Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Pruritus |
OMIM:618531 |
Complex Regional Pain Syndrome |
|
Slow-growing nails, Erythema, Abnormality of hair growth, Dry skin |
ORPHA:83452 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Epidermal acanthosis, Dry skin, Follicular hyperkeratosis, Palmoplantar hyperkeratosis, Uveitis, ... |
OMIM:617388 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Sparse scalp hair, Pili torti, Brittle hair, Hyperkeratosis, Fine hair |
ORPHA:1573 |
Ataxia-Photosensitivity-Short Stature Syndrome |
|
Dry skin |
ORPHA:1184 |
Erythroderma Desquamativum |
|
Seborrheic dermatitis |
ORPHA:314 |
Pilodental Dysplasia With Refractive Errors |
|
Sparse scalp hair, Brittle hair, Follicular hyperkeratosis, Brittle scalp hair, Abnormality of th... |
OMIM:262020 |
White Sponge Nevus 2 |
|
Epidermal acanthosis, Hyperparakeratosis |
OMIM:615785 |
Bazex Syndrome |
|
Pili torti, Sparse hair, Eczema, Acne inversa, Atopic dermatitis, Coarse hair, Trichorrhexis nodo... |
OMIM:301845 |
Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Epidermal acanthosis, Orthokeratosis, Erythema, Hyperkeratosis |
OMIM:613943 |
Immunodeficiency 33 |
|
Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Disseminated nontuberculous myc... |
OMIM:300636 |
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Absent nipple, Sparse scalp hair, Sparse hair, Absent eyebrow, Sparse eyelashes, Sparse body hair... |
OMIM:614941 |
Acrodermatitis Enteropathica |
|
Blepharitis, Cheilitis, Abnormal eyebrow morphology, Pustule, Alopecia, Paronychia, Erythema, Dry... |
ORPHA:37 |
Basan Syndrome |
|
Palmoplantar keratoderma, Nail dystrophy, Epidermal acanthosis |
OMIM:129200 |
Bone Marrow Failure Syndrome 4 |
|
Eczema, Dry skin |
OMIM:618116 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Acute otitis media, Recurrent protozoan infections, Sinusitis, Recurrent fungal infections, Recur... |
ORPHA:572 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Nail dysplasia, Thick eyebrow, Facial hirsutism, Curly eyelashes, Multiple rows of eyelashes, Cur... |
ORPHA:163654 |
Adiposis Dolorosa |
|
Sparse axillary hair, Recurrent skin infections, Dry skin, Sparse pubic hair, Arthritis |
ORPHA:36397 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Keratitis, Blepharitis, Nail dysplasia, Folliculitis, Sparse eyebrow, Alopecia, Sparse eyelashes,... |
OMIM:612843 |
Bazex-Dupré-Christol Syndrome |
|
Sparse scalp hair, Pili torti, Sparse hair, Sparse eyebrow, Coarse hair, Sparse or absent eyelash... |
ORPHA:113 |
Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent mycobacterial infections, Recurrent bacterial skin infections, Colitis, Chronic oral ca... |
ORPHA:911 |
Rhizomelic Chondrodysplasia Punctata |
|
Sparse body hair, Dry skin, Alopecia |
ORPHA:177 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Fragile nails, Subungual hyperkeratosis, Dry skin, Decreased number of sweat glands, Palmoplantar... |
ORPHA:69087 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Pili torti, Hypoplastic toenails, Sparse scalp hair, Patchy alopecia, Sparse eyelashes, Alopecia,... |
OMIM:613573 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Prostatitis, Enteroviral dermatomyositis syndrome, Pyoderma, Enteroviral hepatitis, Re... |
OMIM:307200 |
Selective Igm Deficiency |
|
Keratitis, Onychomycosis, Recurrent infection of the gastrointestinal tract, Otitis media, Rheuma... |
ORPHA:331235 |
Immunodeficiency, Common Variable, 2 |
|
Recurrent bacterial infections, Recurrent sinusitis, Meningitis, Recurrent bronchitis, Recurrent ... |
OMIM:240500 |
Erythema Nodosum, Familial |
|
Erythema, Erythema nodosum |
OMIM:132990 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Discoid lupus rash, Recurrent bacterial skin infections, Osteomyelitis, Eczematoid dermatitis, Ly... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Discoid lupus rash, Recurrent bacterial skin infections, Osteomyelitis, Eczematoid dermatitis, Ly... |
OMIM:233710 |
Olmsted Syndrome 1 |
|
Nail dysplasia, Alopecia universalis, Sparse hair, Subungual hyperkeratosis, Pruritus, Nail dystr... |
OMIM:614594 |
Immunodeficiency, Common Variable, 1 |
|
Recurrent bacterial infections, Recurrent sinusitis, Recurrent bronchitis, Recurrent pneumonia, P... |
OMIM:607594 |
Immunodeficiency 85 And Autoimmunity |
|
Erythroderma, Eczema, Oligoarthritis |
OMIM:619510 |
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Absent nipple, Dry skin, Absent hair, Sparse hair |
OMIM:614940 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Recurrent skin infections, Recurrent upper respiratory tract infections, Atopic dermatitis, Recur... |
OMIM:618944 |
Noonan Syndrome 6 |
|
Curly hair, Sparse hair, Low posterior hairline, Long eyebrows |
OMIM:613224 |
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Fine hair, Sparse hair |
ORPHA:1174 |
Hyperkeratosis Lenticularis Perstans |
|
Skin ulcer, Pruritus, Hyperkeratosis lenticularis perstans |
ORPHA:409 |
Elastoderma |
|
Eczema, Erysipelas, Cutis laxa, Premature skin wrinkling |
ORPHA:228240 |
Riddle Syndrome |
|
Dry skin |
OMIM:611943 |
Wiskott-Aldrich Syndrome 2 |
|
Eczema, Recurrent infections |
OMIM:614493 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Sparse scalp hair, Sparse eyebrow, Alopecia, Dystrophic toenail, Fine hair, Dystrophic fingernails |
ORPHA:1882 |
Whim Syndrome 1 |
|
Bronchiectasis, Recurrent bacterial infections, Recurrent upper respiratory tract infections |
OMIM:193670 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Colitis, Folliculitis, Recurrent skin infections, Inflammation of the large intestine, Hepatitis,... |
OMIM:300635 |
Tooth Agenesis, Selective, 4 |
|
Sparse scalp hair, Sparse eyebrow, Palmar hyperkeratosis, Short eyelashes, Sparse body hair, Dry ... |
OMIM:150400 |
Adult Syndrome |
|
Absent nipple, Sparse scalp hair, Toenail dysplasia, Alopecia, Fingernail dysplasia, Dry skin, Hy... |
ORPHA:978 |
Noonan Syndrome 9 |
|
Curly hair, Sparse eyebrow |
OMIM:616559 |
Immunodeficiency 25 |
|
Erythroderma, Recurrent pneumonia |
OMIM:610163 |
Distal Trisomy 6P |
|
Dry skin, Fine hair, Abnormal eyelash morphology, Abnormal hair quantity |
ORPHA:1745 |
Oral Erosive Lichen |
|
Cheilitis, Erythema, Dry skin |
ORPHA:31142 |
Graft Versus Host Disease |
|
Inflammatory abnormality of the skin, Maculopapular exanthema, Chronic hepatitis, Myositis, Arthr... |
ORPHA:39812 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Discoid lupus rash, Recurrent bacterial skin infections, Osteomyelitis, Eczematoid dermatitis, Ly... |
OMIM:233690 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Hirsutism, Abnormal hair whorl, Dry skin, Synophrys, Nail dystrophy, Low posterior hairline |
OMIM:300860 |
Popov-Chang syndrome |
|
Coarse hair, Hyperkeratosis, Dry skin, Recurrent otitis media |
OMIM:618428 |
Adult Syndrome |
|
Absent nipple, Sparse scalp hair, Fair hair, Sparse axillary hair, Eczema, Dry skin, Hypoplastic ... |
OMIM:103285 |
Trichothiodystrophy 8, Nonphotosensitive |
|
Woolly hair, Sparse hair, Sparse eyebrow, Cutis laxa, Eczema, Trichorrhexis nodosa |
OMIM:619691 |
Huriez Syndrome |
|
Epidermal acanthosis, Congenital palmoplantar hyperkeratosis, Nail dystrophy, Small nail |
OMIM:181600 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Nail dysplasia, Progressive hypotrichosis, Abnormality of hair texture, Sparse eyebrow, Sparse ey... |
OMIM:225060 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial skin infections, Chronic oral candidiasis, Recurrent cutaneous fungal infecti... |
ORPHA:276 |
Porphyria Cutanea Tarda |
|
Recurrent bacterial skin infections, Hypertrichosis, Viral hepatitis, Hirsutism, Chronic hepatiti... |
ORPHA:101330 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Iridocyclitis, Oligoarthritis, Skin rash, Iritis, Anterior uveitis, Uveitis, Psoriasiform lesion,... |
ORPHA:85436 |
Trichothiodystrophy |
|
Sparse scalp hair, Split nail, Brittle hair, Tiger tail banding, Fragile nails, Eczema, Congenita... |
ORPHA:33364 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Epidermal acanthosis, Alopecia, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Abnormal hair... |
OMIM:242100 |
Palmoplantar Keratoderma, Punctate Type Ia |
|
Epidermal acanthosis, Orthokeratosis, Punctate palmoplantar hyperkeratosis |
OMIM:148600 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Dry skin, Follicular hyperkeratosis |
ORPHA:486815 |
Bacterial Toxic-Shock Syndrome |
|
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Peritonitis, Myositis, Myocarditi... |
ORPHA:36234 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Sparse hair, Patchy alopecia, Sparse eyebrow, Sparse eyelashes, Erythroderma |
OMIM:302960 |
Trichothiodystrophy 2, Photosensitive |
|
Coarse hair, Tiger tail banding |
OMIM:616390 |
Epidermodysplasia Verruciformis |
|
Seborrheic dermatitis, Pustule, Recurrent skin infections |
ORPHA:302 |
Mpdu1-Cdg |
|
Eczema, Scaling skin |
ORPHA:79323 |
X-Linked Severe Congenital Neutropenia |
|
Recurrent bacterial infections |
ORPHA:86788 |
Noonan Syndrome 14 |
|
Sparse hair, Sparse eyebrow, Dry skin, Curly hair, Low posterior hairline |
OMIM:619745 |
Adult Idiopathic Neutropenia |
|
Recurrent fungal infections, Recurrent bacterial infections, Helicobacter pylori infection, Recur... |
ORPHA:2688 |
Idiopathic Trachyonychia |
|
Nail pits, Toenail dysplasia, Patchy alopecia, Abnormality of the periungual region, Fragile nail... |
ORPHA:79153 |
Xeroderma Pigmentosum Variant |
|
Keratitis, Dry skin |
ORPHA:90342 |
Braddock-Carey Syndrome 1 |
|
Curly hair, Sparse hair |
OMIM:619980 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Epidermal acanthosis, Hyperkeratosis, Dry skin, Parakeratosis |
OMIM:618527 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Eczema, Lymphadenitis, Inflammation of the large intestine, Nail dystrophy, Erythroderma |
OMIM:615895 |
Psoriasis 15, Pustular, Susceptibility To |
|
Nail dystrophy, Psoriasiform dermatitis |
OMIM:616106 |
Hawkinsinuria |
|
Fine hair, Sparse hair |
ORPHA:2118 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent candida infections, Onychomycosis, Recurrent bacterial skin infections, Atopic dermatit... |
ORPHA:217390 |
Trichohepatoneurodevelopmental Syndrome |
|
Hypertrichosis, Woolly hair, Otitis media, Coarse hair, Hypoplastic nipples, Synophrys, Pruritus,... |
OMIM:618268 |
Spinocerebellar Ataxia Type 34 |
|
Dry skin |
ORPHA:1955 |
Jung Syndrome |
|
Dry skin, Low posterior hairline |
ORPHA:2321 |
Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy |
|
Osteomyelitis, Anterior cervical hypertrichosis |
OMIM:239840 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Thick eyebrow, Curly hair, Highly arched eyebrow, Low posterior hairline, Redundant neck skin |
OMIM:617360 |
Specific Granule Deficiency 2 |
|
Nail dysplasia, Hirsutism, Fragile nails, Recurrent bacterial infections, Sepsis, Recurrent pneum... |
OMIM:617475 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Enterocolitis, Folliculitis, Pancolitis, Recurrent bronchitis, Perianal abscess |
OMIM:612567 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Hirsutism, Low anterior hairline, Woolly hair, Broad eyebrow, Dry skin, Highly arched eyebrow |
OMIM:619244 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Absent nipple, Sparse hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair, Absent eyebrow, E... |
OMIM:305100 |
Leukocyte Adhesion Deficiency, Type I |
|
Periodontitis, Osteomyelitis, Recurrent bacterial infections, Recurrent staphylococcal infections... |
OMIM:116920 |
Uremic Pruritus |
|
Inflammatory abnormality of the skin, Dry skin, Pruritus, Recurrent skin infections |
ORPHA:94059 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse |
|
Palmoplantar keratoderma, Plantar hyperkeratosis, Epidermal acanthosis |
OMIM:615735 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Coarse hair, Hyperkeratosis, Sparse hair, Brittle hair |
ORPHA:1883 |
Glycosylphosphatidylinositol Biosynthesis Defect 25 |
|
Coarse hair, Sparse hair |
OMIM:619985 |
Keratolytic Winter Erythema |
|
Erythema, Pustule |
ORPHA:50943 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypertrichosis, Dry skin, Onychauxis |
OMIM:262190 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Sparse hair, Aplasia of the eccrine sweat glands, Recurrent bacterial infections, Severe cytomega... |
OMIM:300291 |
Specific Granule Deficiency 1 |
|
Recurrent bacterial infections |
OMIM:245480 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Curly hair |
OMIM:256850 |
19Q13.11 Microdeletion Syndrome |
|
Nail dysplasia, Sparse hair, Supernumerary nipple, Sparse or absent eyelashes, Dry skin, Fine hai... |
ORPHA:217346 |
Cardiofaciocutaneous Syndrome 1 |
|
Sparse hair, Absent eyebrow, Atopic dermatitis, Hyperkeratosis, Absent eyelashes, Slow-growing ha... |
OMIM:115150 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Colitis, Conjunctivitis, Atrophic gastritis, Inflammation of the large intestine, Arthritis, Recu... |
OMIM:614700 |
Lymphatic Malformation 3 |
|
Recurrent skin infections |
OMIM:613480 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Dry skin |
OMIM:614450 |
Cernunnos-Xlf Deficiency |
|
Recurrent viral infections, Recurrent bacterial infections |
ORPHA:169079 |
Tangier Disease |
|
Nail dysplasia, Dry skin, Nail dystrophy |
OMIM:205400 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Epidermal acanthosis, Follicular hyperkeratosis, Nail dystrophy, Palmoplantar keratoderma, Parake... |
OMIM:615225 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Periodontitis, Recurrent infection of the gastrointestinal tract, Recurrent sinopulmonary infecti... |
ORPHA:486 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Dry skin, Sparse hair |
OMIM:268020 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Sparse scalp hair, Sparse hair, Eczema, Loose anagen hair, Long eyelashes, Hyperkeratosis, Curly ... |
OMIM:607721 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Recurrent mycobacterial infections, Recurrent fungal infections, Sepsis, Recurrent bacterial infe... |
ORPHA:169090 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Orthokeratosis, Acne inversa, Hyperkeratosis, Nail dystrophy, Hypoplastic sweat glands |
OMIM:617337 |
Smith-Kingsmore Syndrome |
|
Curly hair |
OMIM:616638 |
Noonan Syndrome 7 |
|
Curly hair, Low posterior hairline |
OMIM:613706 |
Thyroid Dyshormonogenesis 1 |
|
Dry skin |
OMIM:274400 |
Amaurosis-Hypertrichosis Syndrome |
|
Coarse hair, Abnormal eyelash morphology, Thick eyebrow, Synophrys |
ORPHA:1021 |
Ige Responsiveness, Atopic |
|
Allergic rhinitis, Eczema |
OMIM:147050 |
Radio-Tartaglia Syndrome |
|
Hirsutism, Low anterior hairline, Thick eyebrow, Dry skin, Long eyelashes, Striae distensae, Syno... |
OMIM:619312 |
Acrokeratoelastoidosis Of Costa |
|
Hyperkeratotic papule, Epidermal acanthosis, Orthokeratosis, Palmoplantar hyperkeratosis |
ORPHA:38 |
Arthrogryposis And Ectodermal Dysplasia |
|
Nail dysplasia, Absent eyebrow, Trichiasis, Dry skin, Hyperkeratosis, Trichodysplasia |
OMIM:601701 |
Atopic Keratoconjunctivitis |
|
Keratitis, Blepharitis, Dry skin, Loss of eyelashes, Keratoconjunctivitis sicca |
ORPHA:163934 |
Noonan Syndrome 10 |
|
Palmoplantar cutis laxa, Hyperkeratosis, Curly hair, Sparse eyebrow |
OMIM:616564 |
Noonan Syndrome 2 |
|
Sparse eyebrow, Palmoplantar cutis laxa, Hyperkeratosis, Curly hair, Low posterior hairline |
OMIM:605275 |
Iga Pemphigus |
|
Pustule, Acantholysis, Pruritus, Ulcerative colitis, Skin vesicle, Cutaneous abscess, Neutrophili... |
ORPHA:555905 |
Cardiofaciocutaneous Syndrome |
|
Sparse hair, Brittle hair, Aplasia/Hypoplasia of the eyebrow, Excessive wrinkled skin, Redundant ... |
ORPHA:1340 |
Chops Syndrome |
|
Thick eyebrow, Aspiration pneumonia, Coarse hair, Long eyelashes, Synophrys, Thick hair, Curly hair |
OMIM:616368 |
Immunodeficiency 67 |
|
Recurrent streptococcal infections, Recurrent staphylococcal infections |
OMIM:607676 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Dry skin |
ORPHA:1035 |
Noonan Syndrome 13 |
|
Generalized hirsutism, Hypertrichosis, Broad eyebrow, Dry skin, Recurrent otitis media, Highly ar... |
OMIM:619087 |
Idiopathic Hypereosinophilic Syndrome |
|
Inflammatory abnormality of the skin, Pancreatitis, Colitis, Pallor, Eczema, Chronic hepatitis, A... |
ORPHA:3260 |
Familial Benign Chronic Pemphigus |
|
Skin vesicle, Acantholysis, Hyperkeratosis, Erythema |
ORPHA:2841 |
Bachmann-Bupp Syndrome |
|
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Dry skin, Small nail |
OMIM:619075 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Nail dysplasia, Alopecia, Dry skin, Fine hair, Premature graying of hair |
OMIM:613990 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Palmoplantar keratoderma, Woolly hair |
OMIM:611528 |
Immunodeficiency, Common Variable, 6 |
|
Glomerulonephritis, Recurrent bacterial infections, Recurrent respiratory infections |
OMIM:613496 |
Juvenile Dermatomyositis |
|
Skin rash, Alopecia, Erythema, Myositis, Dry skin, Arthritis, Pruritus, Skin ulcer, Pericarditis |
ORPHA:93672 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Sinusitis, Inflammatory abnormality of the skin, Recurrent upper respiratory tract infections, Re... |
ORPHA:277 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Eczematoid dermatitis, Redundant skin, Erythema, Arthritis, Palmoplantar hyperkeratosis, Seborrhe... |
OMIM:259100 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Curly hair |
OMIM:300986 |
Immunodeficiency, Common Variable, 13 |
|
Recurrent bacterial infections |
OMIM:616873 |
Noonan Syndrome 4 |
|
High anterior hairline, Curly hair, Sparse eyebrow |
OMIM:610733 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Dry skin |
ORPHA:3085 |
Peroxisome Biogenesis Disorder 14B |
|
Dry skin |
OMIM:614920 |
Mycosis Fungoides |
|
Psoriasiform dermatitis, Eczema, Erythema, Pruritus |
OMIM:254400 |
Ritscher-Schinzel Syndrome 4 |
|
Curly hair |
OMIM:619435 |
Agel Amyloidosis |
|
Sparse hair, Cutis laxa, Dry skin, Pruritus, Nail dystrophy, Keratoconjunctivitis sicca |
ORPHA:85448 |
Myxedema |
|
Dry skin |
OMIM:255900 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Low anterior hairline, Thick eyebrow, Dry skin, Horizontal eyebrow, High anterior hairline |
OMIM:618797 |
Acrogeria |
|
Excessive wrinkled skin, Skin ulcer, Fine hair |
ORPHA:2500 |
Incontinentia Pigmenti |
|
Keratitis, Nail dysplasia, Sparse hair, Supernumerary nipple, Alopecia, Pallor, Maculopapular exa... |
OMIM:308300 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Nail dysplasia, Abnormality of hair texture, Woolly hair, Sparse hair, Brittle hair, Sparse eyela... |
OMIM:234050 |
Squalene Synthase Deficiency |
|
Abnormality of hair pigmentation, Dry skin |
OMIM:618156 |
Oculodentodigital Dysplasia |
|
Sparse hair, Brittle hair, Abnormal fingernail morphology, Fine hair, Slow-growing hair, Palmopla... |
ORPHA:2710 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Curly hair |
ORPHA:457485 |
Papillon-Lefèvre Syndrome |
|
Periodontitis, Chronic furunculosis, Hypertrichosis, Pustule, Generalized hirsutism, Recurrent sk... |
ORPHA:678 |
Immunodeficiency 10 |
|
Nail dysplasia, Recurrent bacterial infections, Recurrent infections |
OMIM:612783 |
Chand Syndrome |
|
Nail dysplasia, Curly hair, Dry skin |
ORPHA:1401 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Recurrent bacterial infections |
OMIM:610738 |
Progeroid Syndrome, Petty Type |
|
Generalized hirsutism, Thick eyebrow, Sparse hair, Brittle hair, Cutis laxa, Redundant skin, Long... |
ORPHA:2963 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Perioral erythema, Paronychia, Dry skin, Perianal erythema, Alopecia of scalp |
OMIM:201100 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hyperkeratosis, Dry skin, Inflammation of the large intestine |
OMIM:614576 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Sparse hair, Abnormal fingernail morphology, Hyperkeratosis, Fine hair, Skin ulcer, Keratoconjunc... |
ORPHA:1806 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Erythroderma |
OMIM:617425 |
Bullous Pemphigoid |
|
Eczema, Recurrent infections, Psoriasiform dermatitis |
ORPHA:703 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Leukonychia, Melanonychia, Erysipelas, Dry skin, Abnormal eyelash morphology, Scaling skin, Abnor... |
ORPHA:2526 |
Interstitial Granulomatous Dermatitis With Arthritis |
|
Rheumatoid arthritis, Inflammatory abnormality of the skin, Erythema, Pruritus |
ORPHA:79099 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Sparse eyebrow, Frontal upsweep of hair, Sparse pubic hair, Dry skin, Scaling skin, Absent axilla... |
OMIM:618419 |
Tricho-Retino-Dento-Digital Syndrome |
|
Uncombable hair, Sparse hair |
ORPHA:1264 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Dry skin |
ORPHA:95715 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Recurrent viral infections, Recurrent bacterial infections, Neutrophilic infiltration of the skin... |
OMIM:618048 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Recurrent bacterial infections, Sepsis, Recurrent skin infections |
OMIM:612840 |
Cranioectodermal Dysplasia 3 |
|
Sparse hair, Cutis laxa, Short nail, Dry skin, Fine hair, Broad nail |
OMIM:614099 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Recurrent bacterial infections |
OMIM:606843 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Sparse hair, Coarse hair, Highly arched eyebrow, Slow-growing hair, Dermal translucency, High ant... |
OMIM:617506 |
Proteus Syndrome |
|
Epidermal acanthosis, Hyperkeratosis |
OMIM:176920 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Palmoplantar keratoderma, Woolly hair |
OMIM:605676 |
Eec Syndrome |
|
Keratitis, Blepharitis, Thick eyebrow, Sparse eyebrow, Coarse hair, Dry skin, Hyperkeratosis, Fin... |
ORPHA:1896 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent sinusitis, Recurrent pneumonia, Recurrent otitis media,... |
OMIM:601495 |
Hereditary Mucoepithelial Dysplasia |
|
Fine hair, Hyperkeratosis, Sparse hair, Alopecia |
ORPHA:1839 |
Peeling Skin Syndrome 6 |
|
Orthokeratosis, Parakeratosis, Pruritus |
OMIM:618084 |
Immunodeficiency 55 |
|
Eczema, Dry skin, Recurrent skin infections |
OMIM:617827 |
9P13 Microdeletion Syndrome |
|
Hypoplastic toenails, Thick eyebrow, Hyperconvex nail, Dry skin, Recurrent otitis media, Highly a... |
ORPHA:324313 |
Ddost-Cdg |
|
Dry skin |
ORPHA:300536 |
Autosomal Agammaglobulinemia |
|
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Sepsis, Chronic otitis media, Art... |
ORPHA:33110 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Curly hair |
ORPHA:85184 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Seborrheic dermatitis, Acne |
OMIM:614441 |
Weaver Syndrome |
|
Hypoplastic toenails, Redundant skin, Deep-set nails, Abnormal fingernail morphology, Fine hair, ... |
ORPHA:3447 |
Cataract, Aberrant Oral Frenula, And Growth Retardation |
|
Curly hair |
OMIM:115645 |
Pressure-Induced Localized Lipoatrophy |
|
Inflammatory abnormality of the skin |
ORPHA:90160 |
Autosomal Dominant Hypocalcemia |
|
Alopecia, Eczema, Dry skin, Abnormal fingernail morphology, Abnormality of the nail |
ORPHA:428 |
Granulomatous Disease, Chronic, X-Linked |
|
Discoid lupus rash, Recurrent bacterial skin infections, Osteomyelitis, Eczematoid dermatitis, Ly... |
OMIM:306400 |
Trichohepatoenteric Syndrome 2 |
|
Woolly hair, Sparse hair, Brittle hair, Trichorrhexis nodosa, Uncombable hair |
OMIM:614602 |
Trichohepatoenteric Syndrome 1 |
|
Woolly hair, Sparse hair, Brittle hair, Trichorrhexis nodosa, Fine hair, Curly hair |
OMIM:222470 |
Biotinidase Deficiency |
|
Skin rash, Alopecia, Recurrent skin infections, Seborrheic dermatitis, Conjunctivitis |
OMIM:253260 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Nail dysplasia, Sparse hair, Sparse eyebrow, Sparse eyelashes, Dry skin |
OMIM:613026 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Supernumerary nipple, Aplasia/Hypoplasia of the eyebrow, Dry skin, Fine hair, Aplastic/hypoplasti... |
ORPHA:1812 |
Darier-White Disease |
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Acantholysis, Ridged nail, Pruritus, Subungual hyperkeratotic fragments |
OMIM:124200 |
Immunodeficiency 21 |
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Recurrent viral infections, Recurrent mycobacterium avium complex infections, Recurrent fungal in... |
OMIM:614172 |