Gene: Trpv3 MGI:2181407

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

transient receptor potential cation channel, subfamily V, member 3

Synonyms:

Nh, VRL3, 1110036I10Rik

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Trpv3 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Trpv3 (3 diseases)
Human diseases predicted to be associated with Trpv3 (791 diseases)

The table below shows human diseases associated to Trpv3 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2	Palmoplantar keratoderma, Hyperkeratosis	OMIM:616400
Olmsted Syndrome 1	Nail dysplasia, Alopecia universalis, Sparse hair, Subungual hyperkeratosis, Pruritus, Nail dystr...	OMIM:614594
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Sparse hair, Alopecia, Erythema, Abnormal fingernail morphology, Skin ulcer, Palmoplantar keratod...	ORPHA:659

The table below shows human diseases predicted to be associated to Trpv3 by phenotypic similarity.

Disease	Matching phenotypes	Source
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	Acantholysis, Ridged nail, Pruritus, Subungual hyperkeratotic fragments	OMIM:124200
Immunodeficiency 21	Recurrent viral infections, Recurrent mycobacterium avium complex infections, Recurrent fungal in...	OMIM:614172

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