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:

1110036I10Rik, VRL3, Nh

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 (764 diseases)

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

Disease	Matching phenotypes	Source
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2	Hyperkeratosis, Palmoplantar keratoderma	OMIM:616400
Olmsted Syndrome 1	Pruritus, Sparse hair, Palmoplantar keratoderma, Subungual hyperkeratosis, Nail dysplasia, Alopec...	OMIM:614594
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Sparse hair, Palmoplantar keratoderma, Erythema, Alopecia, Skin ulcer, Abnormal fingernail morpho...	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	Pili canaliculi, Curly hair, Uncombable hair	OMIM:617252
Pseudopili Annulati	Abnormality of the scalp hair, Abnormality of hair texture	OMIM:613241
Ringed Hair Disease	Abnormal hair pattern, Fine hair	ORPHA:169
Pili Bifurcati	Abnormal hair morphology, Abnormality of hair texture	ORPHA:720
Acne Inversa, Familial, 3	Recurrent cutaneous abscess formation, Chronic furunculosis, Acne inversa, Perifolliculitis	OMIM:613737
Mannose-Binding Lectin Deficiency	Recurrent herpes, Disseminated cryptosporidium infection, Recurrent Klebsiella infections, Recurr...	OMIM:614372
Woolly Hair, Autosomal Recessive 3	Sparse hair, Curly hair, Sparse scalp hair, Trichorrhexis nodosa, Fine hair, Sparse eyelashes	OMIM:616760
Immunodeficiency 51	Folliculitis, Pustule, Cutaneous abscess, Recurrent bronchitis, Chronic oral candidiasis, Recurre...	OMIM:613953
Hypotrichosis 13	Woolly hair, Sparse and thin eyebrow, Sparse hair	OMIM:615896
Immunodeficiency 31B	Herpes simplex encephalitis, Recurrent mycobacterial infections, Recurrent viral infections	OMIM:613796
Uncombable Hair Syndrome 2	Pili canaliculi, Uncombable hair	OMIM:617251
Ichthyosis, Congenital, Autosomal Recessive 14	Orthokeratotic hyperkeratosis, Pruritus, Hyperkeratosis, Scaling skin, Erythema	OMIM:617571
Epidermolytic Hyperkeratosis	Erythroderma, Scaling skin, Epidermal acanthosis, Palmoplantar hyperkeratosis	OMIM:113800
Ichthyosis With Confetti	Hyperkeratosis, Erythroderma, Hypertrichosis, Palmoplantar hyperkeratosis	OMIM:609165
Krt1-Related Diffuse Nonepidermolytic Keratoderma	Atopic dermatitis, Nonepidermolytic palmoplantar hyperkeratosis, Palmoplantar scaling skin, Scali...	ORPHA:530838
Immunodeficiency 34	Severe recurrent varicella, Recurrent mycobacterial infections	OMIM:300645
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia of scalp, Perifolliculitis, Alopecia	OMIM:260910
Immunodeficiency 30	Recurrent infections, Recurrent mycobacterial infections	OMIM:614891
Kerion Celsi	Recurrent skin infections, Recurrent cutaneous abscess formation, Alopecia, Inflammatory abnormal...	ORPHA:499
Erythrokeratodermia Variabilis Et Progressiva 1	Erythroderma, Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Epidermal acanthosis	OMIM:133200
Agammaglobulinemia 2, Autosomal Recessive	Meningitis, Recurrent respiratory infections, Recurrent bacterial infections, Recurrent pneumonia	OMIM:613500
Complement Component 7 Deficiency	Recurrent meningococcal disease, Recurrent Neisserial infections	OMIM:610102
Hypotrichosis 7	Woolly hair, Sparse and thin eyebrow, Sparse hair, Sparse eyelashes	OMIM:604379
Familial Reactive Perforating Collagenosis	Pruritus, Hyperkeratotic papule, Perifolliculitis, Maculopapular exanthema, Crusting erythematous...	ORPHA:79147
Uncombable Hair Syndrome	Trichodysplasia, Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Woolly hair	ORPHA:1410
Peeling Skin Syndrome 1	Pruritus, Onycholysis, Scaling skin, Erythema, Brittle hair, Abnormality of hair texture	OMIM:270300
Witkop Syndrome	Nail pits, Small nail, Sparse hair, Ridged nail, Concave nail, Fine hair	OMIM:189500
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent protozoan infections, Recurrent viral infections, Recurrent bacterial infections	OMIM:308220
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Generalized hyperkeratosis, Sparse eyebrow, Absent pubic hair, Absent axillary hair, Cutis laxa, ...	ORPHA:2269
Ichthyosis, Congenital, Autosomal Recessive 1	Sparse hair, Erythroderma, Nail dysplasia, Alopecia, Parakeratosis, Epidermal acanthosis, Nail dy...	OMIM:242300
Complement Factor D Deficiency	Recurrent bacterial infections	OMIM:613912
Bathing Suit Ichthyosis	Sparse hair, Erythroderma, Scaling skin, Alopecia, Parakeratosis, Epidermal acanthosis, Nail dyst...	ORPHA:100976
Psoriasis 2	Hyperkeratosis, Scaling skin, Epidermal acanthosis, Parakeratosis, Psoriasiform dermatitis	OMIM:602723
Transgrediens Et Progrediens Palmoplantar Keratoderma	Generalized hyperkeratosis, Thin fingernail, Palmoplantar keratoderma, Erythema, Alopecia, Dry skin	ORPHA:495
Palmoplantar Keratoderma And Congenital Alopecia 2	Facial erythema, Hyperkeratosis, Nail dysplasia, Alopecia totalis, Dry skin, Nail dystrophy, Palm...	OMIM:212360
Ichthyosis, Congenital, Autosomal Recessive 7	Erythroderma, Epidermal acanthosis, Palmoplantar keratoderma	OMIM:615022
Ichthyosis Vulgaris	Eczematoid dermatitis, Absent keratohyalin granules, Dry skin	OMIM:146700
Complement Component 8 Deficiency, Type Ii	Meningitis, Recurrent Neisserial infections	OMIM:613789
Dissecting Cellulitis Of The Scalp	Pruritus, Recurrent skin infections, Abnormal hair morphology	ORPHA:345
Trichodysplasia-Xeroderma Syndrome	Trichodysplasia, Coarse hair, Sparse scalp hair, Sparse and thin eyebrow, Brittle hair, Alopecia,...	ORPHA:3361
Oculotrichodysplasia	Trichodysplasia, Generalized hypotrichosis, Scaling skin, Sparse axillary hair, Sparse scalp hair...	OMIM:257960
Pityriasis Rubra Pilaris	Pruritus, Pustule, Abnormality of the nail, Palmoplantar keratoderma, Erythroderma, Subungual hyp...	ORPHA:2897
Acrokeratoderma, Hereditary Papulotranslucent	Fine hair	OMIM:101840
Ichthyosis, Hystrix-Like, With Deafness	Absent eyelashes, Palmoplantar keratoderma, Hyperkeratosis, Erythroderma, Scarring alopecia of sc...	OMIM:602540
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Onycholysis, Palmoplantar keratoderma, Hyperkeratosis, Leukonychia, Scaling skin, Angular cheilit...	OMIM:616295
Lamellar Ichthyosis	Pruritus, Abnormality of the nail, Sparse hair, Hyperkeratosis, Erythroderma, Chronic otitis medi...	ORPHA:313
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent streptococcus pneumoniae infections, Recurrent staphylococcal infections, Recurrent bac...	ORPHA:70592
Neutrophil Actin Dysfunction	Recurrent bacterial infections	OMIM:257150
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
Woolly Hair, Autosomal Dominant	Dry hair, Abnormal hair morphology, Coarse hair, Slow-growing hair, Woolly hair	OMIM:194300
Ficolin 3 Deficiency	Recurrent lower respiratory tract infections, Necrotizing enterocolitis, Recurrent abscess format...	OMIM:613860
Hypotrichosis 6	Pruritus, Sparse hair, Erythema, Follicular hyperkeratosis, Sparse and thin eyebrow, Brittle hair...	OMIM:607903
Ichthyosis, Congenital, Autosomal Recessive 6	Palmoplantar keratoderma, Hyperkeratosis, Erythroderma, Epidermal acanthosis, Parakeratosis	OMIM:612281
Uncombable Hair Syndrome 1	Pili canaliculi, Uncombable hair, Dry hair	OMIM:191480
Autosomal Dominant Epidermolytic Ichthyosis	Hyperkeratosis, Erythroderma, Skin ulcer, Palmoplantar keratoderma	ORPHA:312
Amyloidosis, Primary Localized Cutaneous, 3	Pruritus, Dry skin	OMIM:617920
Acquired Ichthyosis	Pruritus, Palmoplantar keratoderma, Hyperkeratosis, Erythema, Recurrent skin infections, Dry skin	ORPHA:454
Peeling Skin Syndrome 4	Palmoplantar keratoderma, Hyperkeratosis, Scaling skin, Epidermal acanthosis, Orthokeratosis, Nai...	OMIM:607936
Complement Component 6 Deficiency	Recurrent meningococcal disease	OMIM:612446
Bazex Syndrome	Pruritus, Yellow nails, Palmoplantar keratoderma, Hyperkeratosis, Scaling skin, Parakeratosis, Na...	ORPHA:166113
Classic Mycosis Fungoides	Skin rash, Pruritus, Abnormality of the nail, Hyperkeratosis, Erythema, Alopecia, Eczema, Skin ul...	ORPHA:2584
Candidiasis, Familial, 1	Recurrent viral infections, Alopecia, Chronic mucocutaneous candidiasis	OMIM:114580
Tooth Agenesis, Selective, 8	Sparse eyebrow, Sparse hair, Dry skin	OMIM:617073
Acrokeratosis Verruciformis	Hyperkeratosis, Ridged nail, Epidermal acanthosis	OMIM:101900
Ichthyosis, Congenital, Autosomal Recessive 5	Palmoplantar keratoderma, Erythroderma, Epidermal acanthosis, Parakeratosis, Orthokeratosis	OMIM:604777
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections	OMIM:616022
Congenital Disorder Of Glycosylation, Type If	Hyperkeratosis, Erythroderma, Scaling skin, Dry skin	OMIM:609180
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Sparse hair, Acantholysis, Palmoplantar keratoderma, Erythroderma, Recurrent skin infections, Pso...	OMIM:615508
Chand Syndrome	Nail dysplasia, Curly hair	OMIM:214350
Pili Torti-Onychodysplasia Syndrome	Trichodysplasia, Absent eyelashes, Palmoplantar keratoderma, Congenital onychodystrophy, Absent e...	ORPHA:2890
Chronic Actinic Dermatitis	Pruritus, Allergic rhinitis, Erythroderma, Epidermal acanthosis, Eczema, Late onset atopic dermat...	ORPHA:330064
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Folliculitis, Abnormality of the nail, Facial erythema, Palmoplantar keratoderma, Scarring alopec...	OMIM:308800
Dermatitis, Atopic	Pruritus, Atopic dermatitis, Allergic rhinitis, Facial erythema, Conjunctivitis, Eczema, Recurren...	OMIM:603165
Congenital Non-Bullous Ichthyosiform Erythroderma	Pruritus, Abnormality of the nail, Palmoplantar keratoderma, Erythroderma, Keratitis, Alopecia	ORPHA:79394
Trichodysplasia-Xeroderma	Trichodysplasia, Sparse hair, Dry hair, Coarse hair, Sparse axillary hair, Slow-growing hair, Spa...	OMIM:190360
Loose Anagen Hair Syndrome	Loose anagen hair, Sparse hair, Fair hair	OMIM:600628
Ulerythema Ophryogenesis	Abnormal eyebrow morphology, Erythema, Follicular hyperkeratosis, Alopecia, Inflammatory abnormal...	ORPHA:3406
Myelolymphatic Insufficiency	Recurrent viral infections, Recurrent bacterial infections	OMIM:310350
Angioma Serpiginosum, X-Linked	Fine hair, Sparse hair, Nail dystrophy	OMIM:300652
Graham Little-Piccardi-Lassueur Syndrome	Pruritus, Sparse axillary hair, Sparse scalp hair, Sparse pubic hair, Alopecia, Perifollicular hy...	ORPHA:505
Immunodeficiency, Common Variable, 5	Recurrent respiratory infections, Recurrent bacterial infections	OMIM:613495
Monilethrix	Sparse hair, Nail dysplasia, Brittle hair, Alopecia, Abnormality of hair texture, Nail dystrophy	OMIM:158000
Quinquaud Folliculitis Decalvans	Pustule, Abnormal hair morphology, Scarring alopecia of scalp, Patchy alopecia, Recurrent skin in...	ORPHA:346
Erythrokeratodermia Variabilis	Skin rash, Abnormality of the nail, Patchy palmoplantar hyperkeratosis, Abnormal hair morphology,...	ORPHA:317
Marie Unna Hereditary Hypotrichosis	Coarse hair, Sparse scalp hair, Sparse or absent eyelashes, Alopecia, Aplasia/Hypoplasia of the e...	ORPHA:444
Amyloidosis, Primary Localized Cutaneous, 1	Pruritus, Cutis laxa, Scaling skin, Dry skin	OMIM:105250
Sézary Syndrome	Pruritus, Palmoplantar keratoderma, Erythroderma, Alopecia, Nail dystrophy, Dry skin	ORPHA:3162
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Recurrent candida infections, Recurrent bacterial infections	OMIM:242870
Cd8 Deficiency, Familial	Recurrent respiratory infections, Recurrent viral infections, Bronchiectasis, Recurrent bacterial...	OMIM:608957
Ectodermal Dysplasia/Skin Fragility Syndrome	Dystrophic fingernails, Scaling skin, Sparse hair, Palmoplantar hyperkeratosis	OMIM:604536
Acne Inversa, Familial, 1	Acne inversa	OMIM:142690
Immunodeficiency 12	Recurrent viral infections, Recurrent bacterial infections	OMIM:615468
Olmsted Syndrome 2	Pruritus, Sparse hair, Palmoplantar keratoderma, Hyperkeratosis, Cheilitis, Alopecia universalis,...	OMIM:619208
Hypotrichosis 1	Sparse eyebrow, Sparse hair, Sparse axillary hair, Sparse pubic hair, Sparse body hair, Sparse ey...	OMIM:605389
Cole Disease	Hyperkeratosis, Epidermal acanthosis, Palmoplantar keratoderma	OMIM:615522
Immunodeficiency 35	Recurrent viral infections, Recurrent respiratory infections, Recurrent mycobacterial infections,...	OMIM:611521
Keratosis Palmoplantaris Striata Ii	Epidermal acanthosis, Palmoplantar keratoderma	OMIM:612908
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse	Epidermal acanthosis, Palmoplantar keratoderma	OMIM:615735
Ichthyosis, Congenital, Autosomal Recessive 11	Sparse hair, Hyperkeratosis, Curly hair, Sparse and thin eyebrow, Brittle hair, Blepharitis, Pili...	OMIM:602400
Ichthyosis, Congenital, Autosomal Recessive 10	Erythroderma, Palmoplantar keratoderma	OMIM:615024
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome	Abnormality of hair texture, Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the ey...	ORPHA:2891
Agammaglobulinemia 3, Autosomal Recessive	Recurrent bronchitis, Recurrent otitis media, Recurrent respiratory infections, Recurrent bacteri...	OMIM:613501
Agammaglobulinemia 6, Autosomal Recessive	Chronic sinusitis, Recurrent bronchitis, Recurrent otitis media, Conjunctivitis, Recurrent pneumo...	OMIM:612692
Epidermolysis Bullosa, Nonspecific, Autosomal Recessive	Hyperkeratosis, Epidermal acanthosis	OMIM:615028
Woolly Hair	Hypopigmentation of hair, Slow-growing hair, Sparse lateral eyebrow, Brittle hair, Abnormality of...	ORPHA:170
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Abnormal hair morphology, Dry skin, Alopecia, Abnormal toenail morphology, Fine hair, Abnormal fi...	ORPHA:248
Immunodeficiency 61	Recurrent otitis media, Recurrent sinusitis, Recurrent bacterial infections, Frequent Giardia lam...	OMIM:300310
Hypotrichosis 4	Sparse hair, Sparse and thin eyebrow, Alopecia, Sparse body hair, Pili torti, Sparse eyelashes	OMIM:146550
Ectodermal Dysplasia 4, Hair/Nail Type	Onycholysis, Absent eyelashes, Absent eyebrow, Brittle hair, Alopecia, Congenital onychodystrophy...	OMIM:602032
Trichothiodystrophy 3, Photosensitive	Erythroderma, Brittle hair, Tiger tail banding	OMIM:616395
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive	Atopic dermatitis, Recurrent fungal infections, Recurrent viral infections, Recurrent sinopulmona...	OMIM:243700
Dermoodontodysplasia	Trichodysplasia, Nail dysplasia, Dry skin	OMIM:125640
Hair Defect With Photosensitivity And Mental Retardation	Sparse hair, Coarse hair, Sparse and thin eyebrow, Brittle hair, Sparse eyelashes	OMIM:234030
Peeling Skin Syndrome 5	Hyperkeratosis, Epidermal acanthosis	OMIM:617115
Palmoplantar Keratoderma And Woolly Hair	Leukonychia, Sparse scalp hair, Sparse and thin eyebrow, Sparse body hair, Woolly hair, Woolly sc...	OMIM:616099
Pili Torti	Abnormal eyebrow morphology, Abnormality of the nail, Brittle hair, Alopecia, Abnormality of hair...	ORPHA:2889
Netherton Syndrome	Skin rash, Abnormal hair morphology, Erythroderma, Sparse scalp hair, Dry skin, Sparse and thin e...	ORPHA:634
Complement Component 5 Deficiency	Generalized seborrheic dermatitis, Recurrent meningococcal disease	OMIM:609536
Centrifugal Lipodystrophy	Lymphadenitis, Scaling skin, Erythema, Alopecia, Inflammatory abnormality of the skin	ORPHA:90156
Idiopathic Localized Lipodystrophy	Pruritus, Inflammatory abnormality of the skin, Scaling skin, Erythema	ORPHA:90158
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Psoriasiform lesion, Pruritus, Pustule, Superficial dermal perivascular inflammatory infiltrate, ...	ORPHA:284426
Erythrokeratodermia Variabilis Et Progressiva 4	Hyperkeratosis, Erythema, Epidermal acanthosis, Palmoplantar hyperkeratosis	OMIM:617526
Complement Factor B Deficiency	Peritonitis, Pneumonia, Meningitis, Recurrent meningococcal disease, Recurrent bacterial infections	OMIM:615561
Hypotrichosis Simplex	Sparse hair, Sparse scalp hair, Sparse and thin eyebrow, Alopecia, Sparse body hair, Sparse eyela...	ORPHA:55654
Benign Cephalic Histiocytosis	Skin rash, Inflammatory abnormality of the skin	ORPHA:157997
Alopecia Areata 2	Alopecia of scalp, Alopecia totalis, Patchy alopecia, Alopecia universalis	OMIM:610753
Inflammatory Skin And Bowel Disease, Neonatal, 1	Pustule, Perioral erythema, Erythroderma, Paronychia, Perianal erythema, Blepharitis, Onychogryposis	OMIM:614328
Netherton Syndrome	Brittle scalp hair, Allergic rhinitis, Erythroderma, Sparse scalp hair, Sparse and thin eyebrow, ...	OMIM:256500
Palmoplantar Keratoderma, Nagashima Type	Orthokeratotic hyperkeratosis, Epidermal acanthosis	OMIM:615598
Acral Peeling Skin Syndrome	Eczema, Excessive wrinkling of palmar skin, Scaling skin, Erythema	ORPHA:263534
Huriez Syndrome	Abnormality of the nail, Small nail, Palmoplantar keratoderma, Lack of skin elasticity, Dry skin	ORPHA:384
Congenital Lethal Erythroderma	Congenital exfoliative erythroderma, Dry skin	ORPHA:1954
Hypotrichosis 8	Nail pits, Sparse hair, Dry hair, Ridged nail, Coarse hair, Sparse axillary hair, Fair hair, Spar...	OMIM:278150
Hypotrichosis 12	Sparse hair, Dry hair, Slow-growing hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the e...	OMIM:615885
Elastosis Perforans Serpiginosa	Crusting erythematous dermatitis, Hyperkeratotic papule, Epidermal acanthosis, Cutis laxa	ORPHA:79148
Erosive Pustular Dermatosis Of The Scalp	Pustule, Scarring alopecia of scalp, Abnormal hair morphology, Erythema	ORPHA:222
Agammaglobulinemia 4, Autosomal Recessive	Chronic sinusitis, Recurrent otitis media, Recurrent pneumonia, Recurrent respiratory infections,...	OMIM:613502
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Tegumentary leishmaniasis susceptibility, BCGosis, Severe toxoplasmosis, Lymphadenitis, Histoplas...	ORPHA:319552
Verrucous Hemangioma	Hyperkeratotic papule, Epidermal acanthosis, Inflammatory abnormality of the skin	ORPHA:464318
Trichothiodystrophy 1, Photosensitive	Small nail, Sparse hair, Hyperkeratosis, Erythroderma, Tiger tail banding, Dry skin, Keratoconjun...	OMIM:601675
Sabinas Brittle Hair Syndrome	Sparse hair, Dry hair, Nail dysplasia, Brittle hair, Nail dystrophy	OMIM:211390
Erythrokeratodermia Variabilis Et Progressiva 3	Hyperkeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Erythema	OMIM:617525
Ectodermal Dysplasia 7, Hair/Nail Type	Onycholysis, Sparse hair, Sparse and thin eyebrow, Brittle hair, Alopecia, Dystrophic toenail, Dy...	OMIM:614929
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Sparse hair, Slow-growing hair, Nail dysplasia, Dry skin, Sparse and thin eyebrow, Fine hair, Spa...	OMIM:129490
Palmoplantar Keratoderma, Norrbotten Recessive Type	Hyperkeratosis, Recurrent cutaneous fungal infections, Palmoplantar keratoderma	OMIM:244850
Cardiofaciocutaneous Syndrome 2	Fine hair, Curly hair, Sparse hair, Absent eyebrow	OMIM:615278
Pili Torti, Early-Onset	Dry hair, Hair shafts flattened at irregular intervals and twisted through 180 degrees about thei...	OMIM:261900
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears	Woolly hair, Sparse hair	OMIM:278200
Olmsted Syndrome, X-Linked	Posterior blepharitis, Palmoplantar keratoderma, Hyperkeratosis, Subungual hyperkeratosis, Alopec...	OMIM:300918
Hypotrichosis 5	Absent pubic hair, Absent axillary hair, Alopecia, Thin eyebrow, Sparse eyelashes	OMIM:612841
Immunodeficiency 38 With Basal Ganglia Calcification	Recurrent mycobacterial infections	OMIM:616126
Neutropenia, Severe Congenital, X-Linked	Recurrent bacterial infections	OMIM:300299
Naxos Disease	Sparse scalp hair, Curly hair, Woolly hair, Abnormality of hair texture	ORPHA:34217
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations	Recurrent viral infections, Recurrent fungal infections, Recurrent bacterial infections	OMIM:614868
Ameloonychohypohidrotic Syndrome	Seborrheic dermatitis, Onycholysis, Abnormal hair morphology, Dry skin	OMIM:104570
Corneodermatoosseous Syndrome	Erythroderma, Onycholysis, Palmoplantar hyperkeratosis	OMIM:122440
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive	Pruritus, Atopic dermatitis, Bronchiectasis, Recurrent otitis media, Recurrent infections, Chroni...	OMIM:618282
Aicardi-Goutieres Syndrome 5	Chilblains, Scaling skin, Dry skin	OMIM:612952
Palmoplantar Keratoderma And Congenital Alopecia 1	Sparse eyebrow, Sparse hair, Palmoplantar keratoderma, Leukonychia, Epidermal hyperkeratosis, Pal...	OMIM:104100
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism	Woolly hair, Woolly scalp hair, Alopecia	OMIM:601217
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Recurrent cutaneous abscess formation, Chronic furunculosis, Acne inversa, Perifolliculitis	OMIM:613736
Onychogryposis, Pedal, With Keratosis Plantaris And Coarse Hair	Coarse hair, Onychogryposis of toenails, Sparse hair, Dry hair	OMIM:164680
Hypotrichosis And Recurrent Skin Vesicles	Sparse eyebrow, Sparse hair, Leukonychia, Angular cheilitis, Sparse axillary hair, Sparse scalp h...	OMIM:613102
Anonychia With Flexural Pigmentation	Anonychia, Dry skin	OMIM:106750
Epidermolysis Bullosa Dystrophica, Pretibial	Hyperkeratosis, Pruritus, Nail dystrophy	OMIM:131850
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Sparse hair, Thick hair, Cholangitis, Dry skin, Alopecia, Parakeratosis, Epidermal acanthosis, Or...	OMIM:607626
Hypotrichosis 11	Sparse hair, Absent axillary hair, Sparse or absent eyelashes, Alopecia, Aplasia/Hypoplasia of th...	OMIM:615059
Odontoonychodermal Dysplasia	Dry hair, Sparse body hair, Sparse hair, Anonychia, Erythema, Sparse scalp hair, Nail dysplasia, ...	OMIM:257980
Hypotrichosis 14	Sparse body hair, Sparse hair	OMIM:618275
Alopecia-Mental Retardation Syndrome 4	Erythroderma, Alopecia	OMIM:618840
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Absent eyelashes, Erythroderma, Scaling skin, Absent eyebrow, Nail dysplasia, Follicular hyperker...	OMIM:308205
Ichthyosis Hystrix Of Curth-Macklin	Hyperkeratosis, Nail dystrophy, Recurrent skin infections, Diffuse palmoplantar hyperkeratosis	ORPHA:79503
Immunodeficiency 15A	Cutaneous abscess, Recurrent otitis media, Recurrent sinusitis, Chronic mucocutaneous candidiasis...	OMIM:618204
Ichthyosis, Lamellar, Autosomal Dominant	Hyperkeratosis, Pruritus	OMIM:146750
Candidiasis, Familial, 8	Seborrheic dermatitis, Onychomycosis, Blepharitis	OMIM:615527
Leopard Syndrome 3	Hyperkeratosis, Curly hair, Epidermal hyperkeratosis, Low posterior hairline, Dry skin	OMIM:613707
Omenn Syndrome	Pruritus, Erythroderma, Thyroiditis, Pneumonia, Alopecia, Aplasia/Hypoplasia of the eyebrow, Dry ...	ORPHA:39041
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Recurrent skin infections, Recurrent infections, Recurrent respiratory infections	OMIM:617744
Crandall Syndrome	Brittle hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse body hair, Fine hair, Pili torti	ORPHA:202
Immunodeficiency 55	Eczema, Recurrent skin infections, Dry skin	OMIM:617827
Monilethrix	Abnormal eyebrow morphology, Abnormality of the nail, Sparse hair, Abnormal eyelash morphology, S...	ORPHA:573
Pseudopelade Of Brocq	Abnormality of the nail, Abnormal hair morphology, Cheilitis, Sparse scalp hair, Alopecia, Aplasi...	ORPHA:129
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Pruritus, Palmoplantar keratoderma, Hyperkeratosis, Leukonychia, Erythema, Parakeratosis, Woolly ...	OMIM:615821
Basan Syndrome	Hyperkeratosis, Epidermal acanthosis	OMIM:129200
Peeling Skin Syndrome 2	Scaling skin, Erythema	OMIM:609796
Immunodeficiency 66	Meningitis, Pustule, Sepsis, Recurrent skin infections	OMIM:618847
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Sparse eyelashes, Slow-growing hair, Sparse body hair, Blepharitis, Dry skin	OMIM:618535
Immunodeficiency 50	Eczema, Recurrent urinary tract infections, Recurrent respiratory infections	OMIM:300988
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Immunodeficiency, Common Variable, 4	Recurrent sinusitis, Recurrent bacterial infections, Recurrent pneumonia	OMIM:613494
Bullous Diffuse Cutaneous Mastocytosis	Pruritus, Erythroderma	ORPHA:280785
Specific Granule Deficiency 2	Recurrent otitis media, Hirsutism, Nail dysplasia, Recurrent pneumonia, Fragile nails, Recurrent ...	OMIM:617475
Granulomatous disease with defect in neutrophil chemotaxis	Recurrent staphylococcal infections	OMIM:233670
Alopecia Universalis Congenita	Alopecia universalis, Alopecia	OMIM:203655
Alopecia Totalis	Alopecia of scalp, Alopecia	ORPHA:700
Copper Deficiency, Familial Benign	Curly hair, Early balding, Seborrheic dermatitis	OMIM:121270
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Orthokeratotic hyperkeratosis, Yellow nails, Onycholysis, Palmoplantar keratoderma, Epidermal aca...	OMIM:148700
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Atopic dermatitis, Pneumonia, Nail dystrophy, Recurrent upper respiratory tract infections	OMIM:618806
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Recurrent opportunistic infections, Skin rash, Chronic oral candidiasis, Recurrent gastroenteriti...	ORPHA:275
Recessive X-Linked Ichthyosis	Hyperkeratosis, Dry skin	ORPHA:461
Vulvovaginal Gingival Syndrome	Pruritus, Ridged nail, Erythema, Epidermal acanthosis, Parakeratosis	ORPHA:83453
Immunodeficiency 27B	Salmonella osteomyelitis, Recurrent mycobacterial infections, Osteomyelitis	OMIM:615978
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness	Recurrent Haemophilus influenzae infections, Recurrent bronchitis, Otitis media, Chronic sinusitis	OMIM:300455
Trichodental Dysplasia	Fine hair, Brittle hair, Sparse hair, Slow-growing hair	OMIM:601453
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Recurrent herpes, Failure to thrive secondary to recurrent infections, Chronic oral candidiasis, ...	ORPHA:169160
Aquagenic Palmoplantar Keratoderma	Orthokeratotic hyperkeratosis, Atopic dermatitis, Palmar pruritus, Palmoplantar keratoderma, Exce...	ORPHA:498359
Dermoodontodysplasia	Trichodysplasia, Fingernail dysplasia, Sparse scalp hair, Toenail dysplasia, Sparse body hair, Dr...	ORPHA:1660
Björnstad Syndrome	Brittle hair, Alopecia	ORPHA:123
Amelo-Onycho-Hypohidrotic Syndrome	Hypoplastic toenails, Onycholysis, Hyperkeratosis, Dry skin, Fine hair, Abnormal fingernail morph...	ORPHA:1028
Immune Deficiency Disease	Cholangitis, Fulminant hepatitis, Recurrent viral infections, Recurrent bacterial infections	OMIM:242850
Rare Cutaneous Lupus Erythematosus	Abnormality of the periungual region, Pterygium of nails, Leukonychia, Scaling skin, Maculopapula...	ORPHA:535
Ichthyosis, Spastic Quadriplegia, And Mental Retardation	Hyperkeratosis, Dry skin, Scaling skin, Erythema	OMIM:614457
Neonatal Inflammatory Skin And Bowel Disease	Pustule, Chapped lip, Horizontal eyebrow, Recurrent bacterial skin infections, Scaling skin, Eryt...	ORPHA:294023
Carvajal Syndrome	Woolly hair	ORPHA:65282
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Chronic oral candidiasis, Erythroderma, Thyroiditis, Scaling skin, Alopecia universalis, Patchy a...	OMIM:606367
Noonan Syndrome 8	Hyperkeratosis, Palmoplantar cutis laxa, Curly hair, Eczema	OMIM:615355
Griscelli Syndrome, Type 2	Silver-gray hair, Melanin pigment aggregation in hair shafts, Recurrent bacterial infections	OMIM:607624
Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome	Dry skin	ORPHA:2271
Immunodeficiency With Hyper-Igm, Type 2	Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Recurrent up...	OMIM:605258
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Recurrent bronchitis, Nephritis, Arthritis	OMIM:216950
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Erythroderma, Conjunctivitis, Alopecia, Fragile nails	OMIM:242150
Ichthyosis, Congenital, Autosomal Recessive 12	White scaling skin	OMIM:617320
Peeling Skin Syndrome 3	White scaling skin	OMIM:616265
Porokeratosis Of Mibelli	Hyperkeratosis, Pruritus	ORPHA:735
Phenylketonuria	Eczema, Dry skin, Fair hair	OMIM:261600
Ectodermal Dysplasia/Short Stature Syndrome	Hyperkeratosis, Anonychia, Epidermal acanthosis, Nail dystrophy	OMIM:616029
Agammaglobulinemia 1, Autosomal Recessive	Bronchiectasis, Recurrent otitis media, Recurrent sinusitis, Pneumonia, Sinusitis, Conjunctivitis...	OMIM:601495
Bleeding Disorder, Platelet-Type, 21	Eczema, Psoriasiform dermatitis, Recurrent viral infections, Alopecia	OMIM:617443
Leopard Syndrome 2	Curly hair, Dry skin	OMIM:611554
Grubben-De Cock-Borghgraef Syndrome	Eczema, Dry skin	ORPHA:2101
Immunodeficiency 17	Eczema, Recurrent otitis media, Recurrent respiratory infections, Recurrent gastroenteritis	OMIM:615607
Erythroderma, Lethal Congenital	Congenital exfoliative erythroderma	OMIM:227090
Bjornstad Syndrome	Dry hair, Hair shafts flattened at irregular intervals and twisted through 180 degrees about thei...	OMIM:262000
Complement Component 3 Deficiency, Autosomal Recessive	Membranoproliferative glomerulonephritis, Recurrent bacterial infections	OMIM:613779
Epidermolytic Palmoplantar Keratoderma	Erythema, Eczema, Palmoplantar keratoderma, Abnormal fingernail morphology	ORPHA:2199
Prolidase Deficiency	Low anterior hairline, Pruritus, Palmoplantar keratoderma, Hyperkeratosis, Hirsutism, Erythema, C...	ORPHA:742
Non-Epidermolytic Palmoplantar Keratoderma	Pruritus, Skin ulcer, Diffuse palmoplantar hyperkeratosis, Erythema	ORPHA:2337
Pemphigus Erythematosus	Pruritus, Skin vesicle, Acantholysis, Crusting erythematous dermatitis	ORPHA:79480
Trichothiodystrophy 7, Nonphotosensitive	Brittle hair, Tiger tail banding	OMIM:618546
Pachyonychia Congenita 2	Folliculitis, Dry hair, Subungual hyperkeratosis, Sparse scalp hair, Nail dysplasia, Sparse and t...	OMIM:167210
Omenn Syndrome	Recurrent fungal infections, Erythroderma, Recurrent viral infections, Pneumonia, Alopecia, Recur...	OMIM:603554
Pruritic Urticarial Papules And Plaques Of Pregnancy	Pruritis on abdomen, Pruritus, Facial erythema, Palmar pruritus, Pruritus on foot, Eczematoid der...	ORPHA:64745
Immunodeficiency With Hyper-Igm, Type 4	Bronchiectasis, Recurrent upper respiratory tract infections, Recurrent bacterial infections, Ost...	OMIM:608184
Sjögren-Larsson Syndrome	Hyperkeratosis, Dry skin, Inflammatory abnormality of the eye, Erythema	ORPHA:816
Hypohidrotic Ectodermal Dysplasia	Abnormality of the nail, Generalized hypopigmentation of hair, Abnormal hair quantity, Hyperkerat...	ORPHA:238468
Onychotrichodysplasia And Neutropenia	Short eyelashes, Curly hair, Sparse pubic hair, Concave nail, Hypoplastic fingernail, Curly eyela...	OMIM:258360
Bullous Impetigo	Pustule, Recurrent bacterial skin infections, Sepsis, Septic arthritis	ORPHA:36237
Acrokeratosis Verruciformis Of Hopf	Anonychia, Hyperkeratosis, Leukonychia, Punctate palmoplantar hyperkeratosis, Epidermal acanthosi...	ORPHA:79151
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Absent toenail, Pruritus, Palmoplantar hyperkeratosis, Hyperkeratosis, Ridged nail, Dystrophic to...	ORPHA:89838
Skin Fragility-Woolly Hair Syndrome	Palmoplantar keratosis with erythema and scale, Acantholysis, Nail dysplasia, Sparse and thin eye...	OMIM:607655
Harlequin Ichthyosis	Hyperkeratosis, Erythroderma	ORPHA:457
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Follicular hyperkeratosis, Dry skin	OMIM:617066
Psoriasis 14, Pustular	Pustule, Erythema, Cholangitis, Epidermal acanthosis, Parakeratosis, Oligoarthritis, Psoriasiform...	OMIM:614204
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive	Recurrent opportunistic infections, Failure to thrive secondary to recurrent infections, Pneumoni...	OMIM:608971
Drug Rash With Eosinophilia And Systemic Symptoms	Skin rash, Pustule, Interstitial pneumonitis, Erythroderma, Thyroiditis, Erythema, Hepatitis, Tub...	ORPHA:139402
Immunodeficiency, Common Variable, 3	Recurrent otitis media, Recurrent sinusitis, Conjunctivitis, Recurrent bacterial infections, Recu...	OMIM:613493
Immunodeficiency, Common Variable, 12, With Autoimmunity	Bronchiectasis, Recurrent sinusitis, Chronic atrophic gastritis, Recurrent sinopulmonary infectio...	OMIM:616576
Paget Disease, Extramammary	Eczematoid dermatitis	OMIM:167300
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Psoriasiform lesion, Erythroderma, Alopecia	ORPHA:169154
Immunodeficiency 58	Psoriasiform lesion, Esophagitis, Seborrheic dermatitis, Cutaneous abscess, Allergic rhinitis, Br...	OMIM:618131
Naxos Disease	Onycholysis, Palmoplantar keratoderma, Acantholysis, Curly hair, Sparse and thin eyebrow, Epiderm...	OMIM:601214
Acral Self-Healing Collodion Baby	Lack of skin elasticity, Palmoplantar scaling skin, Erythema	ORPHA:281127
Chilblain Lupus	Skin rash, Hyperkeratosis, Pruritis on hand, Discoid lupus rash, Malar rash, Skin ulcer, Inflamma...	ORPHA:90280
Choroidal Atrophy-Alopecia Syndrome	Sparse hair, Ungual fibroma, Sparse or absent eyelashes, Abnormal toenail morphology, Supernumera...	ORPHA:1433
Congenital Heart Defects And Ectodermal Dysplasia	Sparse scalp hair, Fragile nails, Dry skin	OMIM:617364
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance	Eczema, Dry skin	OMIM:612947
Ectodermal Dysplasia-Skin Fragility Syndrome	Pruritus, Chapped lip, Sparse hair, Palmoplantar keratoderma, Scaling skin, Cheilitis, Follicular...	ORPHA:158668
Infantile Digital Fibromatosis	Hyperkeratosis, Epidermal acanthosis, Parakeratosis	ORPHA:199267
Cardiofaciocutaneous Syndrome 3	Hyperkeratosis, Curly hair	OMIM:615279
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Abnormal hair whorl, Hirsutism, Synophrys, Nail dysplasia, Low posterior hairline, Nail dystrophy...	OMIM:300860
Uv-Sensitive Syndrome 3	Dry skin	OMIM:614640
Dwarfism, Familial, With Muscle Spasms	Sparse scalp hair, Brittle scalp hair, Fine hair	OMIM:600771
Immunodeficiency 48	Eczematoid dermatitis, Pneumonia, Recurrent candida infections	OMIM:269840
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Erythroderma, Glomerulonephritis, Hepatitis, Alopecia, Eczema, Arthritis	OMIM:304790
Trichothiodystrophy 6, Nonphotosensitive	Dry skin, Brittle hair, Tiger tail banding, Slow-growing hair	OMIM:616943
Noonan Syndrome 5	Small nail, Sparse eyebrow, Curly hair, Fine hair, Dry skin	OMIM:611553
Anhidrosis, Familial Generalized, With Abnormal Or Absent Sweat Glands	Aplasia of the sweat glands, Dry skin, Palmoplantar hyperkeratosis	OMIM:206600
Erythrokeratodermia Variabilis Et Progressiva 7	Woolly hair, Dystrophic toenail	OMIM:619209
Familial Melanoma	Abnormal hair morphology, Dry skin	ORPHA:618
Thyrotropin-Releasing Hormone Deficiency	Dry skin	OMIM:275120
Bare Lymphocyte Syndrome, Type Ii	Recurrent fungal infections, Recurrent upper respiratory tract infections, Viral hepatitis, Recur...	OMIM:209920
Diffuse Cutaneous Mastocytosis	Pruritus, Erythroderma	ORPHA:79456
Cervical Hypertrichosis With Underlying Kyphoscoliosis	Sacral hypertrichosis, Thoracic hypertrichosis, Anterior cervical hypertrichosis, Lumbar hypertri...	OMIM:117850
Night Blindness, Congenital Stationary, Type 1C	Dry skin	OMIM:613216
Dowling-Degos Disease 4	Epidermal acanthosis	OMIM:615696
Seborrhea-Like Dermatitis With Psoriasiform Elements	Hyperkeratosis, Seborrheic dermatitis	OMIM:610227
Pachyonychia Congenita 4	Hyperkeratosis, Nail dystrophy, Palmoplantar keratoderma	OMIM:615728
Granulomatous Disease, Chronic, Autosomal Recessive, 3	Recurrent sinusitis, Perioral eczema, Colitis, Recurrent infections, Recurrent aphthous stomatitis	OMIM:613960
Microcephalic Primordial Dwarfism, Montreal Type	Abnormal hair quantity, Premature graying of hair, Alopecia of scalp, Low posterior hairline, Dry...	ORPHA:2617
Rat-Bite Fever	Skin rash, Pustule, Parotitis, Endocarditis, Pericarditis, Lymphadenitis, Scaling skin, Maculopap...	ORPHA:31205
Immunodeficiency With Hyper-Igm, Type 5	Epididymitis, Recurrent upper and lower respiratory tract infections, Recurrent bacterial infections	OMIM:608106
Ectodermal Dysplasia-Syndactyly Syndrome 1	Hypoplastic toenails, Small nail, Coarse hair, Absent facial hair, Palmar hyperkeratosis, Sparse ...	OMIM:613573
Inflammatory Skin And Bowel Disease, Neonatal, 2	Pustule, Long eyelashes, Epidermal acanthosis, Recurrent pneumonia	OMIM:616069
Ichthyosis, Congenital, Autosomal Recessive 2	Small nail, Abnormal hair morphology, Palmoplantar keratoderma, Hyperkeratosis, Erythema, Thin na...	OMIM:242100
Craniosynostosis-Mental Retardation-Clefting Syndrome	Dry skin	OMIM:218650
Uv-Sensitive Syndrome 1	Dry skin	OMIM:600630
Hypodontia-Dysplasia Of Nails Syndrome	Abnormality of the nail, Hypoplastic toenails, Thin toenail, Ridged fingernail, Hypoplastic finge...	ORPHA:2228
Psoriasis 1, Susceptibility To	Nail pits, Onycholysis, Onychomadesis, Psoriasiform dermatitis, Arthritis	OMIM:177900
Zinc Deficiency, Transient Neonatal	Eczema, Alopecia	OMIM:608118
Familial Hemophagocytic Lymphohistiocytosis	Skin rash, Purpura, Erythroderma, Maculopapular exanthema, Colitis, Petechiae, Encephalitis, Ecch...	ORPHA:540
Lichen Planus Pemphigoides	Pruritus, Abnormality of the nail, Hyperkeratosis, Conjunctivitis, Skin vesicle, Blepharitis	ORPHA:254478
Ichthyosis, Congenital, Autosomal Recessive 9	Epidermal acanthosis	OMIM:615023
Porphyria Cutanea Tarda, Type I	Eczema, Hypertrichosis	OMIM:176090
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2	Hyperkeratosis, Palmoplantar keratoderma	OMIM:616400
Complement Factor I Deficiency	Recurrent Haemophilus influenzae infections, Pyelonephritis, Recurrent otitis media, Recurrent si...	OMIM:610984
Clouston Syndrome	Small nail, Onycholysis, Sparse eyelashes, Absent pubic hair, Absent axillary hair, Slow-growing ...	OMIM:129500
Lichen Planopilaris	Pruritus, Onycholysis, Hyperkeratosis, Hepatitis, Alopecia, Skin ulcer, Abnormal fingernail morph...	ORPHA:525
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Fine hair, Fragile nails	ORPHA:500166
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Pruritus, Hyperkeratosis, Palmar hyperkeratosis, Plantar hyperkeratosis, Nail dystrophy	ORPHA:79399
Autoinflammation With Arthritis And Dyskeratosis	Palmoplantar hyperkeratosis, Thyroiditis, Uveitis, Punctate keratitis, Follicular hyperkeratosis,...	OMIM:617388
Inflammatory Bowel Disease 28, Autosomal Recessive	Folliculitis, Pyoderma, Colitis, Perianal abscess, Enterocolitis, Crohn's disease	OMIM:613148
Erythrokeratodermia Variabilis Et Progressiva 6	Pruritus, Superficial dermal perivascular inflammatory infiltrate, Parakeratosis	OMIM:618531
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Prostatitis, Epididymitis, Recurrent otitis media, Pyoderma, Pneumonia, Septic arthritis, Recurre...	OMIM:307200
Mental Retardation, Autosomal Dominant 34	Curly hair, Coarse hair, Synophrys	OMIM:616351
Bazex Syndrome	Atopic dermatitis, Acne inversa, Sparse hair, Coarse hair, Eczema, Trichorrhexis nodosa, Pili tor...	OMIM:301845
Complex Regional Pain Syndrome	Abnormality of hair growth, Slow-growing nails, Dry skin, Erythema	ORPHA:83452
Bone Marrow Failure Syndrome 4	Eczema, Dry skin	OMIM:618116
White Sponge Nevus 2	Epidermal acanthosis, Hyperparakeratosis	OMIM:615785
Darier Disease	Pruritus, Abnormality of the nail, Abnormal hair morphology, Palmoplantar keratoderma, Subungual ...	ORPHA:218
Hypotrichosis With Juvenile Macular Degeneration	Hyperkeratosis, Sparse scalp hair, Brittle hair, Fine hair, Pili torti	ORPHA:1573
Pemphigus Foliaceus	Crusting erythematous dermatitis, Skin vesicle, Acantholysis, Erythema	ORPHA:79481
Ataxia-Photosensitivity-Short Stature Syndrome	Dry skin	ORPHA:1184
Pilodental Dysplasia With Refractive Errors	Brittle scalp hair, Abnormality of the nail, Sparse scalp hair, Follicular hyperkeratosis, Brittl...	OMIM:262020
Bazex-Dupré-Christol Syndrome	Sparse hair, Coarse hair, Sparse scalp hair, Sparse and thin eyebrow, Sparse or absent eyelashes,...	ORPHA:113
Erythroderma Desquamativum	Seborrheic dermatitis	ORPHA:314
Adiposis Dolorosa	Sparse axillary hair, Sparse pubic hair, Dry skin, Recurrent skin infections, Arthritis	ORPHA:36397
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Folliculitis, Facial erythema, Palmoplantar keratoderma, Scarring alopecia of scalp, Nail dysplas...	OMIM:612843
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Woolly hair, Palmoplantar keratoderma	OMIM:610476
Acrodermatitis Enteropathica	Pustule, Abnormal eyebrow morphology, Abnormality of the nail, Ridged nail, Ridged fingernail, Pa...	ORPHA:37
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy	Highly arched eyebrow, Sparse eyebrow, Absent axillary hair, Scaling skin, Sparse pubic hair, Dry...	OMIM:618419
Rhizomelic Chondrodysplasia Punctata	Sparse body hair, Alopecia, Dry skin	ORPHA:177
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Curly hair, Nail dysplasia, Thick eyebrow, Facial hirsutism, Curly eyelashes, Low posterior hairl...	ORPHA:163654
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent herpes, Skin rash, Chronic hepatitis due to cryptosporidium infection, Recurrent fungal...	ORPHA:572
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent opportunistic infections, Skin rash, Chronic oral candidiasis, Recurrent upper and lowe...	ORPHA:911
Erythema Nodosum, Familial	Erythema nodosum, Erythema	OMIM:132990
Complement Factor H Deficiency	Recurrent bacterial infections	OMIM:609814
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	Absent hair, Absent nipple, Sparse hair, Dry skin	OMIM:614940
Selective Igm Deficiency	Cutaneous abscess, Bronchiectasis, Recurrent urinary tract infections, Onychomycosis, Pulmonary t...	ORPHA:331235
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive	Cutaneous abscess, Atopic dermatitis, Recurrent upper respiratory tract infections, Recurrent oti...	OMIM:618944
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant	Skin rash, Recurrent fungal infections, Recurrent Staphylococcus aureus infections, Eczematoid de...	OMIM:147060
Olmsted Syndrome 1	Pruritus, Sparse hair, Palmoplantar keratoderma, Subungual hyperkeratosis, Nail dysplasia, Alopec...	OMIM:614594
Wiskott-Aldrich Syndrome 2	Eczema, Recurrent infections	OMIM:614493
Trichothiodystrophy 2, Photosensitive	Brittle hair, Coarse hair, Tiger tail banding	OMIM:616390
Noonan Syndrome 6	Curly hair, Low posterior hairline, Sparse hair, Long eyebrows	OMIM:613224
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans, Pruritus, Skin ulcer	ORPHA:409
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent Aspergillus infections, Recurrent Staphylococcus aureus infections, Eczematoid dermatit...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent Aspergillus infections, Recurrent Staphylococcus aureus infections, Eczematoid dermatit...	OMIM:233710
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Absent nipple, Sparse hair, Hypoplastic nipples, Sparse scalp hair, Dry skin, Sparse lateral eyeb...	OMIM:614941
Graft Versus Host Disease	Acute hepatitis, Gastrointestinal inflammation, Scaling skin, Maculopapular exanthema, Pneumonia,...	ORPHA:39812
Adult Syndrome	Nail pits, Abnormality of the nail, Absent nipple, Breast hypoplasia, Fingernail dysplasia, Hypop...	ORPHA:978
Ichthyosis, Congenital, Autosomal Recessive 8	Hyperkeratosis, Orthokeratosis, Epidermal acanthosis, Erythema	OMIM:613943
Chondrodysplasia Punctata 2, X-Linked Dominant	Sparse hair, Erythroderma, Sparse and thin eyebrow, Alopecia, Sparse eyelashes	OMIM:302960
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Fine hair, Sparse hair	ORPHA:1174
Elastoderma	Eczema, Cutis laxa, Erysipelas, Premature skin wrinkling	ORPHA:228240
Lymphoproliferative Syndrome, X-Linked, 2	Inflammation of the large intestine, Folliculitis, Colitis, Hepatitis, Recurrent infections, Recu...	OMIM:300635
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Sparse scalp hair, Sparse and thin eyebrow, Alopecia, Dystrophic toenail, Dystrophic fingernails,...	ORPHA:1882
Riddle Syndrome	Dry skin	OMIM:611943
Adult Syndrome	Nail pits, Absent nipple, Breast hypoplasia, Sparse axillary hair, Fair hair, Hypoplastic nipples...	OMIM:103285
Porphyria Cutanea Tarda	Cutaneous abscess, Viral hepatitis, Recurrent bacterial skin infections, Hirsutism, Scaling skin,...	ORPHA:101330
Immunodeficiency, Common Variable, 2	Recurrent bronchitis, Bronchiectasis, Recurrent otitis media, Recurrent sinusitis, Conjunctivitis...	OMIM:240500
Psoriasis-Related Juvenile Idiopathic Arthritis	Psoriasiform lesion, Skin rash, Nail pits, Pruritus, Onycholysis, Iridocyclitis, Iritis, Uveitis,...	ORPHA:85436
Oral Erosive Lichen	Dry skin, Cheilitis, Erythema	ORPHA:31142
Immunodeficiency, Common Variable, 1	Recurrent bronchitis, Bronchiectasis, Recurrent otitis media, Recurrent sinusitis, Pneumonia, Con...	OMIM:607594
Huriez Syndrome	Congenital palmoplantar hyperkeratosis, Small nail, Epidermal acanthosis, Nail dystrophy	OMIM:181600
Immunodeficiency 25	Erythroderma, Recurrent pneumonia	OMIM:610163
Distal Trisomy 6P	Abnormal eyelash morphology, Fine hair, Abnormal hair quantity, Dry skin	ORPHA:1745
Trichothiodystrophy	Ridged nail, Tiger tail banding, Sparse scalp hair, Alopecia of scalp, Split nail, Concave nail, ...	ORPHA:33364
Popov-Chang syndrome	Hyperkeratosis, Recurrent otitis media, Coarse hair, Dry skin	OMIM:618428
9P13 Microdeletion Syndrome	Highly arched eyebrow, Hypoplastic toenails, Recurrent otitis media, Hyperconvex nail, Thick eyeb...	ORPHA:324313
Tooth Agenesis, Selective, 4	Short eyelashes, Sparse eyebrow, Sparse hair, Dry skin	OMIM:150400
Hidrotic Ectodermal Dysplasia	Onycholysis, Sparse hair, Palmoplantar keratoderma, Hyperconvex nail, Sparse axillary hair, Abnor...	ORPHA:189
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Recurrent herpes, Skin rash, Recurrent Haemophilus influenzae infections, Recurrent opportunistic...	ORPHA:276
Granulomatous Disease, Chronic, X-Linked	Recurrent Aspergillus infections, Recurrent Staphylococcus aureus infections, Eczematoid dermatit...	OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent Aspergillus infections, Recurrent Staphylococcus aureus infections, Eczematoid dermatit...	OMIM:233690
Bacterial Toxic-Shock Syndrome	Peritonitis, Skin rash, Scaling skin, Pneumonia, Septic arthritis, Glomerulonephritis, Hepatitis,...	ORPHA:36234
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Sparse eyelashes, Nail dysplasia, Sparse and thin eyebrow, Brittle hair, Abnormality of hair text...	OMIM:225060
Whim Syndrome 1	Recurrent bacterial infections, Bronchiectasis, Recurrent upper respiratory tract infections	OMIM:193670
Noonan Syndrome 9	Curly hair, Sparse eyebrow	OMIM:616559
Immunodeficiency 33	Disseminated nontuberculous mycobacterial infection, Recurrent bacterial infections	OMIM:300636
Epidermodysplasia Verruciformis	Pustule, Seborrheic dermatitis, Recurrent skin infections	ORPHA:302
Xeroderma Pigmentosum Variant	Keratitis, Dry skin	ORPHA:90342
Giant Axonal Neuropathy 1, Autosomal Recessive	Curly hair	OMIM:256850
X-Linked Severe Congenital Neutropenia	Recurrent bacterial infections	ORPHA:86788
Palmoplantar Keratoderma, Punctate Type Ia	Orthokeratosis, Epidermal acanthosis, Punctate palmoplantar hyperkeratosis	OMIM:148600
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Follicular hyperkeratosis, Dry skin	ORPHA:486815
Adult Idiopathic Neutropenia	Recurrent fungal infections, Helicobacter pylori infection, Recurrent infections, Recurrent bacte...	ORPHA:2688
Cortisone Reductase Deficiency 1	Hirsutism, Acne	OMIM:604931
Pressure-Induced Localized Lipoatrophy	Inflammatory abnormality of the skin, Erythema	ORPHA:90160
Combined Immunodeficiency Due To Dock8 Deficiency	Atopic dermatitis, Recurrent bacterial skin infections, Chronic otitis media, Recurrent sinusitis...	ORPHA:217390
Hawkinsinuria	Fine hair, Sparse hair	ORPHA:2118
Psoriasis 15, Pustular, Susceptibility To	Psoriasiform dermatitis, Nail dystrophy	OMIM:616106
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Curly hair	OMIM:617360
Dracunculiasis	Skin rash, Pruritus, Recurrent cutaneous abscess formation, Arthritis	ORPHA:231
Jung Syndrome	Low posterior hairline, Dry skin	ORPHA:2321
Spinocerebellar Ataxia Type 34	Dry skin	ORPHA:1955
Trichohepatoneurodevelopmental Syndrome	Pruritus, Curly hair, Coarse hair, Synophrys, Hypoplastic nipples, Hypertrichosis, Woolly hair, O...	OMIM:618268
Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy	Anterior cervical hypertrichosis, Osteomyelitis	OMIM:239840
Trichohepatoenteric Syndrome 2	Sparse hair, Uncombable hair, Brittle hair, Pili canaliculi, Woolly hair, Trichorrhexis nodosa	OMIM:614602
Ectodermal Dysplasia And Immunodeficiency 1	Sparse hair, Aplasia of the eccrine sweat glands, Severe cytomegalovirus infection, Molluscum con...	OMIM:300291
Uremic Pruritus	Pruritus, Inflammatory abnormality of the skin, Recurrent skin infections, Dry skin	ORPHA:94059
Lymphatic Malformation 3	Recurrent skin infections	OMIM:613480
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Onychauxis, Hypertrichosis, Dry skin	OMIM:262190
Immunodeficiency, Common Variable, 8, With Autoimmunity	Psoriasiform lesion, Inflammation of the large intestine, Bronchiectasis, Thyroiditis, Recurrent ...	OMIM:614700
Keratolytic Winter Erythema	Pustule, Erythema	ORPHA:50943
Palmoplantar Carcinoma, Multiple Self-Healing	Palmoplantar keratoderma, Follicular hyperkeratosis, Epidermal acanthosis, Parakeratosis, Nail dy...	OMIM:615225
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Hyperkeratosis, Coarse hair, Brittle hair, Sparse hair	ORPHA:1883
Specific Granule Deficiency 1	Recurrent bacterial infections	OMIM:245480
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Sparse hair, Dry skin	OMIM:268020
19Q13.11 Microdeletion Syndrome	Sparse hair, Nail dysplasia, Sparse lateral eyebrow, Sparse or absent eyelashes, Supernumerary ni...	ORPHA:217346
Hypothyroidism, Congenital, Nongoitrous, 6	Dry skin	OMIM:614450
Arthrogryposis And Ectodermal Dysplasia	Trichodysplasia, Hyperkeratosis, Trichiasis, Absent eyebrow, Nail dysplasia, Dry skin	OMIM:601701
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Absent nipple, Sparse hair, Absent eyelashes, Absent eyebrow, Hypoplastic nipples, Concave nail, ...	OMIM:305100
Tangier Disease	Nail dysplasia, Nail dystrophy, Dry skin	OMIM:205400
Cardiofaciocutaneous Syndrome 1	Atopic dermatitis, Sparse hair, Absent eyelashes, Hyperkeratosis, Curly hair, Absent eyebrow, Slo...	OMIM:115150
Ige Responsiveness, Atopic	Eczema, Allergic rhinitis	OMIM:147050
Atopic Keratoconjunctivitis	Keratitis, Keratoconjunctivitis sicca, Loss of eyelashes, Blepharitis, Dry skin	ORPHA:163934
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Sparse hair, Hyperkeratosis, Curly hair, Long eyelashes, Sparse scalp hair, Loose anagen hair, Ec...	OMIM:607721
Smith-Kingsmore Syndrome	Curly hair	OMIM:616638
Thyroid Dyshormonogenesis 1	Dry skin	OMIM:274400
Autosomal Dominant Severe Congenital Neutropenia	Recurrent ear infections, Periodontitis, Pneumonia, Recurrent viral infections, Recurrent sinopul...	ORPHA:486
Noonan Syndrome 7	Curly hair, Low posterior hairline	OMIM:613706
Amaurosis-Hypertrichosis Syndrome	Abnormal eyelash morphology, Thick eyebrow, Coarse hair, Synophrys	ORPHA:1021
Combined Immunodeficiency Due To Crac Channel Dysfunction	Recurrent fungal infections, Chronic otitis media, Recurrent viral infections, Pneumonia, Meningi...	ORPHA:169090
Iga Pemphigus	Pruritus, Pustule, Cutaneous abscess, Neutrophilic infiltration of the skin, Acantholysis, Ulcera...	ORPHA:555905
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Hypoplastic sweat glands, Hyperkeratosis, Acne inversa, Orthokeratosis, Nail dystrophy	OMIM:617337
Radio-Tartaglia Syndrome	Highly arched eyebrow, Low anterior hairline, Small nail, High anterior hairline, Hirsutism, Long...	OMIM:619312
Beta-Mercaptolactate Cysteine Disulfiduria	Dry skin	ORPHA:1035
Leukocyte Adhesion Deficiency, Type I	Recurrent staphylococcal infections, Periodontitis, Recurrent bacterial infections, Osteomyelitis...	OMIM:116920
Cernunnos-Xlf Deficiency	Recurrent viral infections, Recurrent bacterial infections	ORPHA:169079
Noonan Syndrome 10	Hyperkeratosis, Palmoplantar cutis laxa, Curly hair, Sparse eyebrow	OMIM:616564
Familial Benign Chronic Pemphigus	Hyperkeratosis, Skin vesicle, Acantholysis, Erythema	ORPHA:2841
Idiopathic Hypereosinophilic Syndrome	Pruritus, Erythroderma, Colitis, Chronic hepatitis, Cholangitis, Arthritis, Pancreatitis, Eczema,...	ORPHA:3260
Noonan Syndrome 13	Highly arched eyebrow, Recurrent otitis media, Broad eyebrow, Hypertrichosis, Generalized hirsuti...	OMIM:619087
Noonan Syndrome 2	Sparse eyebrow, Hyperkeratosis, Palmoplantar cutis laxa, Curly hair, Low posterior hairline	OMIM:605275
Cardiofaciocutaneous Syndrome	Sparse hair, Palmoplantar keratoderma, Hyperkeratosis, Redundant skin, Abnormal eyelash morpholog...	ORPHA:1340
Juvenile Dermatomyositis	Skin rash, Pruritus, Pericarditis, Erythema, Arthritis, Alopecia, Myositis, Skin ulcer, Dry skin	ORPHA:93672
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Sparse body hair, Eczema, Sparse hair, Abnormal fingernail morphology	ORPHA:1810
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Recurrent opportunistic infections, Recurrent pneumonia, Recurrent upper respiratory tract infect...	ORPHA:277
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Dry skin	ORPHA:3085
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	Seborrheic dermatitis, Acne	OMIM:167100
Immunodeficiency 67	Recurrent streptococcal infections, Recurrent staphylococcal infections	OMIM:607676
Agel Amyloidosis	Pruritus, Sparse hair, Cutis laxa, Keratoconjunctivitis sicca, Nail dystrophy, Dry skin	ORPHA:85448
Mycosis Fungoides	Pruritus, Psoriasiform dermatitis, Eczema, Erythema	OMIM:254400
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome	Hyperkeratosis, Leukonychia, Palmoplantar keratoderma	ORPHA:2698
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Seborrheic dermatitis, Eczematoid dermatitis, Redundant skin, Erythema, Arthritis, Palmoplantar h...	OMIM:259100
Xfe Progeroid Syndrome	Dry skin	OMIM:610965
Acrogeria	Excessive wrinkled skin, Fine hair, Skin ulcer	ORPHA:2500
Myxedema	Dry skin	OMIM:255900
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Dry skin	OMIM:618527
Noonan Syndrome 4	Curly hair, Sparse eyebrow, High anterior hairline	OMIM:610733
Squalene Synthase Deficiency	Abnormality of hair pigmentation, Dry skin	OMIM:618156
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Erythroderma	OMIM:617425
Immunodeficiency, Common Variable, 6	Glomerulonephritis, Recurrent respiratory infections, Recurrent bacterial infections	OMIM:613496
Trichothiodystrophy 4, Nonphotosensitive	Small nail, Sparse hair, Nail dysplasia, Concave nail, Brittle hair, Abnormality of hair texture,...	OMIM:234050
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Low anterior hairline, Horizontal eyebrow, High anterior hairline, Thick eyebrow, Dry skin	OMIM:618797
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Curly hair	ORPHA:457485
Bachmann-Bupp Syndrome	Small nail, Sparse eyelashes, Absent eyebrow, Sparse scalp hair, Dry skin	OMIM:619075
Papillon-Lefèvre Syndrome	Generalized hirsutism, Severe periodontitis, Pustule, Abnormality of the nail, Periodontitis, Chr...	ORPHA:678
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Abnormal hair morphology, Abnormal eyelash morphology, Leukonychia, Scaling skin, Panniculitis, E...	ORPHA:2526
Oculodentodigital Dysplasia	Abnormality of the nail, Sparse hair, Palmoplantar keratoderma, Curly hair, Slow-growing hair, Br...	ORPHA:2710
Bullous Pemphigoid	Eczema, Psoriasiform dermatitis, Recurrent infections	ORPHA:703
Immunodeficiency 10	Nail dysplasia, Recurrent infections, Recurrent bacterial infections	OMIM:612783
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Palmoplantar keratosis with erythema and scale, Recurrent loss of toenails and fingernails, Eryth...	ORPHA:158673
Progeroid Syndrome, Petty Type	Abnormality of the nail, Sparse hair, Abnormal hair morphology, Redundant skin, Cutis laxa, Long ...	ORPHA:2963
Interstitial Granulomatous Dermatitis With Arthritis	Rheumatoid arthritis, Pruritus, Inflammatory abnormality of the skin, Erythema	ORPHA:79099
Eec Syndrome	Nail pits, Hyperkeratosis, Coarse hair, Slow-growing hair, Thick eyebrow, Keratitis, Sparse and t...	ORPHA:1896
Dyskeratosis Congenita, Autosomal Dominant 3	Premature graying of hair, Nail dysplasia, Alopecia, Fine hair, Dry skin	OMIM:613990
Peroxisome Biogenesis Disorder 14B	Dry skin	OMIM:614920
Immunodeficiency, Common Variable, 13	Recurrent bacterial infections	OMIM:616873
Ectodermal Dysplasia-Blindness Syndrome	Sparse hair, Hyperkeratosis, Keratoconjunctivitis sicca, Fine hair, Skin ulcer, Abnormal fingerna...	ORPHA:1806
X-Linked Dominant Chondrodysplasia Punctata	Erythema, Scarring alopecia of scalp, Abnormal fingernail morphology, Abnormality of hair texture	ORPHA:35173
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Recurrent bacterial infections	OMIM:610738
Leukocyte Adhesion Deficiency, Type Iii	Sepsis, Recurrent skin infections, Recurrent bacterial infections	OMIM:612840
Tricho-Retino-Dento-Digital Syndrome	Uncombable hair, Sparse hair	ORPHA:1264
Chand Syndrome	Nail dysplasia, Curly hair, Dry skin	ORPHA:1401
Autosomal Agammaglobulinemia	Skin rash, Bronchiectasis, Chronic otitis media, Recurrent respiratory infections, Conjunctivitis...	ORPHA:33110
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Dry skin	ORPHA:95715
Cranioectodermal Dysplasia 3	Sparse hair, Broad nail, Cutis laxa, Short nail, Fine hair, Dry skin	OMIM:614099
Hereditary Mucoepithelial Dysplasia	Hyperkeratosis, Sparse hair, Alopecia, Fine hair	ORPHA:1839
Trichohepatoenteric Syndrome 1	Sparse hair, Curly hair, Brittle hair, Woolly hair, Trichorrhexis nodosa, Fine hair	OMIM:222470
Congenital Disorder Of Glycosylation, Type Iil	Hyperkeratosis, Inflammation of the large intestine, Dry skin	OMIM:614576
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Curly hair	ORPHA:85184
Cataract, Aberrant Oral Frenula, And Growth Retardation	Curly hair	OMIM:115645
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Highly arched eyebrow, Sparse hair, Dermal translucency, Curly hair, High anterior hairline, Slow...	OMIM:617506
Autosomal Dominant Hypocalcemia	Abnormality of the nail, Abnormal fingernail morphology, Alopecia, Eczema, Dry skin	ORPHA:428
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Seborrheic dermatitis, Acne	OMIM:614441
Weaver Syndrome	Hypoplastic toenails, Deep-set nails, Redundant skin, Thin nail, Fine hair, Abnormal fingernail m...	ORPHA:3447
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Thyroiditis, Recurrent infections, Eczema	OMIM:618985
Incontinentia Pigmenti	Nail pits, Sparse hair, Breast hypoplasia, Hyperkeratosis, Ridged nail, Coarse hair, Breast aplas...	OMIM:308300
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Woolly hair, Palmoplantar keratoderma	OMIM:605676
Peeling Skin Syndrome 6	Pruritus, Orthokeratosis, Parakeratosis	OMIM:618084
Ddost-Cdg	Dry skin	ORPHA:300536
Chromosome 19Q13.11 Deletion Syndrome, Distal	Sparse eyebrow, Sparse hair, Sparse eyelashes, Nail dysplasia, Dry skin	OMIM:613026
Ectodermal Dysplasia With Mental Retardation And Syndactyly	Onychogryposis of toenails, Sparse and thin eyebrow, Dry skin	OMIM:600906
Immunodeficiency With Hyper-Igm, Type 3	Recurrent bacterial infections	OMIM:606843
Immunodeficiency 36	Recurrent respiratory infections, Bronchiectasis, Recurrent bacterial infections	OMIM:616005
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Supernumerary nipple, Aplasia/Hypoplasia of the eyebrow, Aplastic/hypoplastic toenail, Fine hair,...	ORPHA:1812
Hydroxykynureninuria	Stomatitis, Dry skin	ORPHA:79155
Barber-Say Syndrome	Absent nipple, Redundant skin, Hypoplastic nipples, Hypertrichosis, Sparse and thin eyebrow, Dry ...	OMIM:209885
Immunodeficiency 47	Recurrent bacterial infections	OMIM:300972
Immunodeficiency 21	Recurrent viral infections, Recurrent mycobacterium avium complex infections, Recurrent fungal in...	OMIM:614172
Pgm3-Cdg	Recurrent pneumonia, Esophagitis, Cutaneous abscess, Allergic rhinitis, Atopic dermatitis, Bronch...	ORPHA:443811
Kid Syndrome	Generalized hyperkeratosis, Hypoplastic toenails, Sparse hair, Palmoplantar keratoderma, Aplasia/...	ORPHA:477
Odontotrichoungual-Digital-Palmar Syndrome	Nail dysplasia, Nail dystrophy, Abnormality of hair texture	OMIM:601957
Pachydermoperiostosis	Seborrheic dermatitis, Abnormal hair quantity, Palmoplantar keratoderma, Eczematoid dermatitis, A...	ORPHA:2796
Biotinidase Deficiency	Skin rash, Seborrheic dermatitis, Conjunctivitis, Alopecia, Recurrent skin infections	OMIM:253260
Darier-White Disease	Pruritus, Subungual hyperkeratotic fragments, Ridged nail, Acantholysis	OMIM:124200
Riddle Syndrome	Recurrent pneumonia, Recurrent sinusitis, Scaling skin, Pneumonia, Erythema, Chronic sinusitis, O...	ORPHA:420741
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy	Abnormal hair quantity, Alopecia, Dry skin	ORPHA:457059
Inflammatory Bowel Disease 25, Autosomal Recessive	Folliculitis, Perianal abscess, Enterocolitis	OMIM:612567
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis	Skin rash, Pustule, Hyperkeratosis, Stomatitis, Epidermal acanthosis, Osteomyelitis	OMIM:612852
Letterer-Siwe Disease	Seborrheic dermatitis, Pallor, Stomatitis	OMIM:246400
Purine Nucleoside Phosphorylase Deficiency	Recurrent opportunistic infections, Recurrent upper respiratory tract infections, Recurrent urina...	OMIM:613179
Cutis Laxa, Autosomal Recessive, Type Iiib	Dermal translucency, Sparse hair, Cutis laxa, Excessive wrinkled skin, Fine hair	OMIM:614438
Limb-Mammary Syndrome	Sparse eyebrow, Bilateral breast hypoplasia, Absent nipple, Chronic irritative conjunctivitis, Br...	ORPHA:69085
Neutropenia, Severe Congenital, 1, Autosomal Dominant

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