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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 (800 diseases)

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

Disease	Matching phenotypes	Source
Olmsted Syndrome 1	Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos...	OMIM:614594
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2	Patchy palmoplantar hyperkeratosis	OMIM:616400
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Alopecia, Abnormal fingernail morphology, Erythema, Skin ulcer, Palmoplantar keratoderma, Sparse ...	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, Brittle hair, Pili canaliculi	OMIM:617252
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	Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa	OMIM:613737
Mannose-Binding Lectin Deficiency	Recurrent herpes, Recurrent skin infections, Disseminated cryptosporidium infection, Recurrent Kl...	OMIM:614372
Woolly Hair, Autosomal Recessive 3	Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa	OMIM:616760
Immunodeficiency 51	Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic ...	OMIM:613953
Hypotrichosis Simplex Of The Scalp	Abnormal eyebrow morphology, Sparse scalp hair, Parakeratosis, Epidermal acanthosis, Absent facia...	ORPHA:90368
Immunodeficiency 34	Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis	OMIM:300645
Uncombable Hair Syndrome 2	Uncombable hair, Pili canaliculi	OMIM:617251
Peeling Skin Syndrome 3	Abnormal hair morphology, Erythema, White scaling skin, Pruritus	OMIM:616265
Epidermolytic Hyperkeratosis 1	Epidermal acanthosis, Scaling skin, Palmoplantar hyperkeratosis, Erythroderma	OMIM:113800
Ulerythema Ophryogenesis	Acne, Facial erythema, Hyperkeratotic papule, Follicular hyperkeratosis, Dry skin, Contact dermat...	ORPHA:3406
Complement Component 7 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:610102
Ichthyosis, Congenital, Autosomal Recessive 14	Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin	OMIM:617571
Hypotrichosis 4	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair	OMIM:146550
Krt1-Related Diffuse Nonepidermolytic Keratoderma	Concave nail, Diffuse palmoplantar hyperkeratosis, Erythema, Nonepidermolytic palmoplantar hyperk...	ORPHA:530838
Immunodeficiency 30	Recurrent mycobacterial infections, Recurrent infections	OMIM:614891
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia, Perifolliculitis, Alopecia of scalp	OMIM:260910
Erythrokeratodermia Variabilis Et Progressiva 1	Generalized hyperkeratosis, Epidermal acanthosis, Patchy palmoplantar hyperkeratosis, Erythroderma	OMIM:133200
Kerion Celsi	Alopecia, Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent ...	ORPHA:499
Peeling Skin Syndrome 6	Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin	OMIM:618084
Epidermolytic Hyperkeratosis 2	Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato...	OMIM:620150
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Bathing Suit Ichthyosis	Alopecia, Parakeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis, Palmoplantar scaling ...	ORPHA:100976
Ichthyosis, Hystrix-Like, With Deafness	Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow...	OMIM:602540
Witkop Syndrome	Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair	OMIM:189500
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections	OMIM:308220
Complement Factor D Deficiency	Recurrent bacterial infections	OMIM:613912
Peeling Skin Syndrome 1	Brittle hair, Pruritus, Onycholysis, Scaling skin, Nail dystrophy, Erythroderma	OMIM:270300
Ichthyosis, Congenital, Autosomal Recessive 6	Parakeratosis, Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Eryt...	OMIM:612281
Ichthyosis, Congenital, Autosomal Recessive 5	Parakeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Erythroderma, Orthokeratosis, Whit...	OMIM:604777
Verrucous Hemangioma	Inflammatory abnormality of the skin, Hyperkeratotic papule, Epidermal acanthosis	ORPHA:464318
Ichthyosis Prematurity Syndrome	Epidermal acanthosis, Allergic rhinitis, Pruritus, Follicular hyperkeratosis, Erythroderma, Alope...	OMIM:608649
Palmoplantar Keratoderma And Congenital Alopecia 2	Alopecia totalis, Palmoplantar hyperkeratosis, Facial erythema, Hyperkeratosis, Nail dystrophy, N...	OMIM:212360
Psoriasis 2	Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Hyperkeratosis, Scaling skin	OMIM:602723
Ichthyosis With Confetti	Pruritus, Palmoplantar hyperkeratosis, Scaling skin, Hypoplastic nipples, Erythroderma, Hypertric...	OMIM:609165
Ichthyosis, Congenital, Autosomal Recessive 7	Palmoplantar keratoderma, Epidermal acanthosis, Erythroderma	OMIM:615022
Peeling Skin Syndrome 5	Hyperkeratosis, Epidermal acanthosis, Scaling skin	OMIM:617115
Familial Reactive Perforating Collagenosis	Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Abnormal fingern...	ORPHA:79147
Ichthyosis Hystrix, Curth-Macklin Type	Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin	OMIM:146590
Ichthyosis Vulgaris	Eczematoid dermatitis, Absent keratohyalin granules, Dry skin	OMIM:146700
Complement Component 8 Deficiency, Type Ii	Recurrent Neisserial infections, Meningitis	OMIM:613789
Ichthyosis, Congenital, Autosomal Recessive 1	Alopecia, Parakeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis, Nail dystrophy, Nail ...	OMIM:242300
Dissecting Cellulitis Of The Scalp	Pruritus, Recurrent skin infections, Abnormal hair morphology	ORPHA:345
Acrokeratoderma, Hereditary Papulotranslucent	Fine hair	OMIM:101840
Lamellar Ichthyosis	Pruritus, Lack of skin elasticity, Hyperkeratosis, Abnormality of the nail, Erythroderma, Sparse ...	ORPHA:313
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Eczema, Pruritus, Pustule, Palmoplantar keratoderma, Erythroderma, Abno...	ORPHA:2897
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu...	ORPHA:70592
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Eczema, Pruritus, Palmoplantar keratoderm...	OMIM:618535
Trichodysplasia-Xeroderma Syndrome	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod...	ORPHA:3361
Neutrophil Actin Dysfunction	Recurrent bacterial infections	OMIM:257150
Immunodeficiency 31B	Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections	OMIM:613796
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
Immunodeficiency 31A	Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent...	OMIM:614892
Ficolin 3 Deficiency	Recurrent Staphylococcus aureus infections, Necrotizing enterocolitis, Recurrent abscess formatio...	OMIM:613860
Hypotrichosis 6	Brittle hair, Sparse eyelashes, Sparse eyebrow, Pruritus, Erythema, Follicular hyperkeratosis, Sp...	OMIM:607903
Uncombable Hair Syndrome 1	Uncombable hair, Dry hair, Pili canaliculi	OMIM:191480
Peeling Skin Syndrome 4	Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Nail dystrophy, Ort...	OMIM:607936
Autosomal Dominant Epidermolytic Ichthyosis	Hyperkeratosis, Palmoplantar keratoderma, Skin ulcer, Erythroderma	ORPHA:312
Intellectual Developmental Disorder, Fra12A Type	Hyperkeratosis, Erythroderma	OMIM:136630
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Epidermal acanthosis, Angular cheilitis, Acantholysis, Pruritus, Punctate palmoplantar hyperkerat...	OMIM:616295
Complement Component 6 Deficiency	Recurrent meningococcal disease	OMIM:612446
Acquired Ichthyosis	Recurrent skin infections, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Dry skin	ORPHA:454
Ichthyosis, Congenital, Autosomal Recessive 10	Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Erythroderma	OMIM:615024
Classic Mycosis Fungoides	Alopecia, Skin rash, Eczema, Pruritus, Erythema, Skin ulcer, Hyperkeratosis, Dry skin, Abnormalit...	ORPHA:2584
Candidiasis, Familial, 1	Alopecia, Chronic mucocutaneous candidiasis, Recurrent viral infections	OMIM:114580
Tooth Agenesis, Selective, 8	Sparse eyebrow, Dry skin, Sparse hair	OMIM:617073
Bazex Syndrome	Parakeratosis, Yellow nails, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Na...	ORPHA:166113
Acrokeratosis Verruciformis	Ridged nail, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Epidermal acanthosis	OMIM:101900
Ichthyosis, Annular Epidermolytic, 1	Abnormal hair morphology, Hyperparakeratosis, Erythema, Palmoplantar hyperkeratosis, Scaling skin...	OMIM:607602
Ichthyosis, Congenital, Autosomal Recessive 11	Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Pruritus, Hyperkerat...	OMIM:602400
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Congenital onychodystrophy, Eczema, Absent eyelashes, Pal...	ORPHA:2890
Chronic Actinic Dermatitis	Late onset atopic dermatitis, Epidermal acanthosis, Eczema, Allergic rhinitis, Pruritus, Erythrod...	ORPHA:330064
Chand Syndrome	Curly hair, Nail dysplasia	OMIM:214350
Complement Component 5 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease, Generalized seborrheic dermatitis	OMIM:609536
Pemphigus Foliaceus	Psoriasiform dermatitis, Acantholysis, Pruritus, Pustule, Erythema, Crusting erythematous dermati...	ORPHA:79481
Cd8 Deficiency, Familial	Recurrent respiratory infections, Recurrent bacterial infections, Bronchiectasis, Recurrent viral...	OMIM:608957
Congenital Ichthyosiform Erythroderma	Alopecia, Keratitis, Pruritus, Palmoplantar keratoderma, Erythroderma, Abnormality of the nail	ORPHA:79394
Angioma Serpiginosum, X-Linked	Sparse hair, Nail dystrophy, Fine hair	OMIM:300652
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o...	ORPHA:79414
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Congenital alopecia totalis, Epidermal acanthosis, Sparse eyebrow, Dry skin, Absent pubic hair, C...	ORPHA:2269
Myelolymphatic Insufficiency	Recurrent bacterial infections, Recurrent viral infections	OMIM:310350
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Keratitis, Facial erythema, Follicu...	OMIM:308800
Dermatitis, Atopic	Recurrent skin infections, Eczema, Allergic rhinitis, Pruritus, Atopic dermatitis, Facial erythem...	OMIM:603165
Immunodeficiency, Common Variable, 5	Recurrent respiratory infections, Recurrent bacterial infections	OMIM:613495
Schopf-Schulz-Passarge Syndrome	Ridged nail, Narrow nail, Thin nail, Poroma, Hyperkeratosis, Palmoplantar keratoderma, Onycholysi...	OMIM:224750
Amyloidosis, Primary Localized Cutaneous, 1	Pruritus, Dry skin, Scaling skin	OMIM:105250
Monilethrix	Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:158000
Graham Little-Piccardi-Lassueur Syndrome	Sparse scalp hair, Alopecia, Sparse axillary hair, Sparse pubic hair, Pruritus, Perifollicular hy...	ORPHA:505
Sézary Syndrome	Alopecia, Pruritus, Palmoplantar keratoderma, Nail dystrophy, Erythroderma, Dry skin	ORPHA:3162
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections	OMIM:616022
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Recurrent bacterial infections, Recurrent candida infections	OMIM:242870
Erythrokeratodermia Variabilis	Alopecia, Skin rash, Abnormal hair morphology, Erythema, Patchy palmoplantar hyperkeratosis, Hype...	ORPHA:317
Marie Unna Hereditary Hypotrichosis	Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e...	ORPHA:444
Quinquaud Folliculitis Decalvans	Recurrent skin infections, Pustule, Scarring alopecia of scalp, Abnormal hair morphology, Patchy ...	ORPHA:346
Keratoderma Hereditarium Mutilans With Ichthyosis	Scaling skin on fingertip, Alopecia, Epidermal acanthosis, Parakeratosis, Palmoplantar hyperkerat...	ORPHA:79395
Olmsted Syndrome 2	Parakeratosis, Epidermal acanthosis, Pruritus, Perioral hyperkeratosis, Cheilitis, Palmoplantar h...	OMIM:619208
Ectodermal Dysplasia/Skin Fragility Syndrome	Absent eyebrow, Absent eyelashes, Palmoplantar hyperkeratosis, Nail dystrophy, Scaling skin, Spar...	OMIM:604536
Amyloidosis, Primary Localized Cutaneous, 3	Pruritus, Dry skin	OMIM:617920
Immunodeficiency 35	Recurrent respiratory infections, Recurrent mycobacterial infections, Recurrent fungal infections...	OMIM:611521
Chilblain Lupus 2	Chilblains	OMIM:614415
Keratosis Palmoplantaris Striata Ii	Palmoplantar keratoderma, Epidermal acanthosis	OMIM:612908
Palmoplantar Keratoderma, Nagashima Type	Orthokeratotic hyperkeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis	OMIM:615598
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome	Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the eyebrow, Abnormality of hair te...	ORPHA:2891
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair...	ORPHA:170
Hypotrichosis 1	Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai...	OMIM:605389
Ichthyosis, Congenital, Autosomal Recessive 9	Orthokeratosis, Hyperkeratosis, Epidermal acanthosis, Erythroderma	OMIM:615023
Ectodermal Dysplasia 4, Hair/Nail Type	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod...	OMIM:602032
Netherton Syndrome	Sparse scalp hair, Parakeratosis, Brittle hair, Recurrent skin infections, Brittle scalp hair, Ec...	OMIM:256500
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m...	ORPHA:248
Hair Defect With Photosensitivity And Mental Retardation	Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair	OMIM:234030
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Hyperkeratosis, Epidermal acanthosis	OMIM:615028
Netherton Syndrome	Sparse scalp hair, Sparse eyelashes, Eczema, Skin rash, Sparse eyebrow, Abnormal hair morphology,...	ORPHA:634
Dermoodontodysplasia	Dry skin, Nail dysplasia, Trichodysplasia	OMIM:125640
Erythrokeratodermia Variabilis Et Progressiva 5	Abnormal hair morphology, Hyperkeratosis, Onychogryposis, Palmoplantar hyperkeratosis	OMIM:617756
Linear Atrophoderma Of Moulin	Pruritus, Inflammatory abnormality of the skin	ORPHA:140933
Immunodeficiency 84	Perianal abscess, Recurrent bacterial infections, Persistent EBV viremia	OMIM:619437
Complement Factor B Deficiency	Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease	OMIM:615561
Dowling-Degos Disease 4	Pruritus, Epidermal acanthosis	OMIM:615696
Idiopathic Localized Lipodystrophy	Pruritus, Inflammatory abnormality of the skin, Erythema, Scaling skin	ORPHA:90158
Pili Torti	Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ...	ORPHA:2889
Immunodeficiency 53	Recurrent urinary tract infections, Skin rash, Recurrent pneumonia, Recurrent upper respiratory t...	OMIM:617585
Mal De Meleda	Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Ep...	ORPHA:87503
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl...	ORPHA:284426
Ichthyosis, Annular Epidermolytic, 2	Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Orthokeratosis	OMIM:620148
Hypotrichosis Simplex	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair	ORPHA:55654
Acral Peeling Skin Syndrome	Erythema, Eczema, Scaling skin, Excessive wrinkling of palmar skin	ORPHA:263534
Inflammatory Skin And Bowel Disease, Neonatal, 1	Perianal erythema, Pustule, Paronychia, Perioral erythema, Erythroderma, Blepharitis, Onychogryposis	OMIM:614328
Centrifugal Lipodystrophy	Inflammatory abnormality of the skin, Alopecia, Lymphadenitis, Erythema, Scaling skin	ORPHA:90156
Congenital Lethal Erythroderma	Congenital exfoliative erythroderma, Dry skin	ORPHA:1954
Huriez Syndrome	Lack of skin elasticity, Palmoplantar keratoderma, Small nail, Dry skin, Abnormality of the nail	ORPHA:384
Alopecia Areata 2	Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis	OMIM:610753
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair, Dry skin	OMIM:129490
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Tegumentary leishmaniasis susceptibility, Pneumonia, Lymphadenitis, Recurrent mycobacterial infec...	ORPHA:319552
Benign Cephalic Histiocytosis	Inflammatory abnormality of the skin, Skin rash	ORPHA:157997
Elastosis Perforans Serpiginosa	Hyperkeratotic papule, Crusting erythematous dermatitis, Epidermal acanthosis, Cutis laxa	ORPHA:79148
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Woolly Hair, Autosomal Dominant	Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Coarse hai...	OMIM:194300
Erosive Pustular Dermatosis Of The Scalp	Abnormal hair morphology, Scarring alopecia of scalp, Erythema, Pustule	ORPHA:222
Sabinas Brittle Hair Syndrome	Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:211390
Palmoplantar Keratoderma, Norrbotten Recessive Type	Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections	OMIM:244850
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears	Sparse hair, Woolly hair	OMIM:278200
Atrophoderma Vermiculata	Pruritus, Abnormal epidermal morphology, Erythema, Follicular hyperkeratosis, Hyperkeratotic papule	ORPHA:79100
Erythrokeratodermia Variabilis Et Progressiva 4	Hyperkeratosis, Erythema, Epidermal acanthosis, Palmoplantar hyperkeratosis	OMIM:617526
Immunodeficiency 38 With Basal Ganglia Calcification	Recurrent mycobacterial infections	OMIM:616126
Hypotrichosis 11	Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo...	OMIM:615059
Congenital Disorder Of Glycosylation, Type If	Hyperkeratosis, Dry skin, Scaling skin, Erythroderma	OMIM:609180
Pili Torti, Early-Onset	Dry hair, Brittle hair, Coarse hair, Hair shafts flattened at irregular intervals and twisted thr...	OMIM:261900
Cardiofaciocutaneous Syndrome 2	Sparse hair, Curly hair, Absent eyebrow, Fine hair	OMIM:615278
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection	Chronic furunculosis, Cutaneous abscess	OMIM:619986
Naxos Disease	Woolly hair, Sparse scalp hair, Curly hair, Abnormality of hair texture	ORPHA:34217
Immunodeficiency 27B	Recurrent mycobacterial infections, Osteomyelitis, Recurrent mycobacterium avium complex infectio...	OMIM:615978
Hidrotic Ectodermal Dysplasia	Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p...	ORPHA:189
Hypotrichosis 13	Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology	OMIM:615896
Trichothiodystrophy 1, Photosensitive	Brittle hair, Trichoschisis, Fine hair, Hyperkeratosis, Keratoconjunctivitis sicca, Fragile nails...	OMIM:601675
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Parakeratosis, Epidermal acanthosis, Alopecia totalis, Posterior blepha...	OMIM:300918
Hypotrichosis And Recurrent Skin Vesicles	Sparse scalp hair, Sparse eyelashes, Epidermal acanthosis, Sparse axillary hair, Angular cheiliti...	OMIM:613102
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, A...	OMIM:615508
Anonychia With Flexural Pigmentation	Anonychia, Dry skin	OMIM:106750
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Brittle hair, Plantar hyperkeratosis, Epidermal hyperkeratosis, Sparse eyebrow, Leukony...	OMIM:104100
Seborrhea-Like Dermatitis With Psoriasiform Elements	Hyperkeratosis, Epidermal acanthosis, Seborrheic dermatitis	OMIM:610227
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa	OMIM:613736
Epidermolysis Bullosa Dystrophica, Pretibial	Pruritus, Hyperkeratosis, Nail dystrophy	OMIM:131850
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Alopecia, Osteomyelitis, Recurrent skin infections, Eczema, Pruritus, Recurrent pneumonia, Bronch...	OMIM:618282
Aicardi-Goutieres Syndrome 5	Chilblains, Dry skin, Scaling skin	OMIM:612952
Candidiasis, Familial, 8	Seborrheic dermatitis, Cheilitis, Chronic oral candidiasis, Onychomycosis, Blepharitis	OMIM:615527
Copper Deficiency, Familial Benign	Curly hair, Early balding, Seborrheic dermatitis	OMIM:121270
Hypotrichosis 7	Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor...	OMIM:604379
Ichthyosis Hystrix Of Curth-Macklin	Hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Recurrent skin infections, Nail dystrophy	ORPHA:79503
Ichthyosis, Lamellar, Autosomal Dominant	Pruritus, Hyperkeratosis	OMIM:146750
Alopecia-Intellectual Disability Syndrome 4	Alopecia, Erythroderma	OMIM:618840
Omenn Syndrome	Alopecia, Pneumonia, Pruritus, Thyroiditis, Erythroderma, Dry skin, Aplasia/Hypoplasia of the eye...	ORPHA:39041
Leopard Syndrome 3	Curly hair, Epidermal hyperkeratosis, Low posterior hairline, Hyperkeratosis, Dry skin	OMIM:613707
Hypotrichosis 12	Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho...	OMIM:615885
Lupus Erythematosus Tumidus	Deep dermal perivascular inflammatory infiltrate, Scaling skin	ORPHA:90283
Immunodeficiency, Common Variable, 4	Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis	OMIM:613494
Crandall Syndrome	Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:202
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h...	ORPHA:573
Palmoplantar Keratoderma And Woolly Hair	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair	OMIM:616099
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Alopecia of scalp, Palmoplantar keratoderma, Nail dystrophy, Scaling skin, Dry skin	OMIM:618373
Pseudopelade Of Brocq	Sparse scalp hair, Alopecia, Recurrent skin infections, Abnormal hair morphology, Cheilitis, Abno...	ORPHA:129
Immunodeficiency 15A	Recurrent respiratory infections, Chronic mucocutaneous candidiasis, Recurrent sinusitis, Recurre...	OMIM:618204
Complement Component 3 Deficiency, Autosomal Recessive	Recurrent bacterial infections, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Re...	OMIM:613779
Peeling Skin Syndrome 2	Erythema, Scaling skin	OMIM:609796
Immunodeficiency 66	Pustule, Meningitis, Recurrent skin infections, Sepsis	OMIM:618847
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Pruritus, Alopecia, Plantar hyperkeratosis, Nail dystrophy	OMIM:616487
Immunodeficiency 110 With Lymphoproliferation	Recurrent skin infections, Recurrent viral infections, Recurrent pneumonia, Recurrent upper respi...	OMIM:614868
Odontoonychodermal Dysplasia	Ridged nail, Sparse scalp hair, Dry hair, Plantar hyperkeratosis, Epidermal acanthosis, Short nai...	OMIM:257980
Bullous Diffuse Cutaneous Mastocytosis	Pruritus, Erythroderma	ORPHA:280785
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Parakeratosis, Pruritus, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Nail dy...	OMIM:615821
Immunodeficiency 50	Recurrent respiratory infections, Recurrent urinary tract infections, Eczema	OMIM:300988
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Granulomatous disease with defect in neutrophil chemotaxis	Recurrent staphylococcal infections	OMIM:233670
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunisti...	ORPHA:275
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Recurrent Haemophilus influenzae infections, Chronic sinusitis, Recurrent bronchitis, Otitis media	OMIM:300455
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyelashes, Acantholysis, Sparse eyebrow, Palmoplantar hyperkeratosis, Palmoplant...	OMIM:605676
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Nail dystrophy, Atopic dermatitis, Pneumonia, Recurrent upper respiratory tract infections	OMIM:618806
Trichodental Dysplasia	Sparse hair, Brittle hair, Slow-growing hair, Fine hair	OMIM:601453
Amelo-Onycho-Hypohidrotic Syndrome	Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Hyperkeratosis, Onycholysis, Dry...	ORPHA:1028
Alopecia-Intellectual Disability Syndrome 1	Alopecia, Alopecia universalis	OMIM:203650
Carvajal Syndrome	Woolly hair	ORPHA:65282
Recessive X-Linked Ichthyosis	Hyperkeratosis, Dry skin	ORPHA:461
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Alopecia, Parakeratosis, Sparse eyelashes, Thick hair, Epidermal acanthosis, Sparse eyebrow, Prur...	OMIM:607626
Björnstad Syndrome	Alopecia, Brittle hair	ORPHA:123
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Alopecia, Palmoplantar keratoderma, Conjunctivitis, Erythroderma, Sparse hair, Fragile nails	OMIM:242150
Erythrokeratodermia Variabilis Et Progressiva 3	Epidermal acanthosis, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Orthokerat...	OMIM:617525
X-Linked Dominant Chondrodysplasia Punctata	Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Coarse hair,...	ORPHA:35173
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Recurrent herpes, Pneumonia, Recurrent pneumonia, Hepatitis, Recurrent ...	ORPHA:169160
Vulvovaginal Gingival Syndrome	Ridged nail, Parakeratosis, Epidermal acanthosis, Pruritus, Erythema	ORPHA:83453
Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome	Dry skin	ORPHA:2271
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Epidermal acanthosis, Yellow nails, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, P...	OMIM:148700
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Arthritis, Nephritis, Recurrent bronchitis	OMIM:216950
Noonan Syndrome 8	Palmoplantar cutis laxa, Curly hair, Hyperkeratosis, Eczema	OMIM:615355
Griscelli Syndrome, Type 2	Silver-gray hair, Recurrent bacterial infections, Melanin pigment aggregation in hair shafts	OMIM:607624
Dermoodontodysplasia	Sparse scalp hair, Fingernail dysplasia, Trichodysplasia, Dry skin, Toenail dysplasia, Sparse bod...	ORPHA:1660
Agammaglobulinemia 9, Autosomal Recessive	Recurrent bacterial infections, Eczematoid dermatitis, Seborrheic dermatitis	OMIM:619693
Acute Generalized Exanthematous Pustulosis	Predominantly dermal neutrophilic infiltrate, Acantholysis, Pruritus, Pustule, Cheilitis, Eosinop...	ORPHA:293173
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Woolly hair, Palmoplantar keratoderma	OMIM:610476
Ichthyosis, Congenital, Autosomal Recessive 12	White scaling skin	OMIM:617320
Agammaglobulinemia 2, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Recurrent bacterial infections, Recurrent ...	OMIM:613500
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Chronic oral candidiasis, Psoriasiform dermatitis, Eczema, Thyroiditis, Patchy alopecia, Scaling ...	OMIM:606367
Porokeratosis Of Mibelli	Pruritus, Hyperkeratosis	ORPHA:735
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Facial erythema...	ORPHA:1010
Naxos Disease	Curly hair, Subungual hyperkeratosis, Epidermal acanthosis, Acantholysis, Sparse eyebrow, Diffuse...	OMIM:601214
Neonatal Inflammatory Skin And Bowel Disease	Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Erythema, Hor...	ORPHA:294023
Neutropenia, Severe Congenital, X-Linked	Recurrent bacterial infections, Eczema	OMIM:300299
Erythroderma, Lethal Congenital	Congenital exfoliative erythroderma	OMIM:227090
Immunodeficiency 104	Pneumonia, Eczema, Recurrent opportunistic infections, Chronic mucocutaneous candidiasis, Otitis ...	OMIM:608971
Grubben-De Cock-Borghgraef Syndrome	Dry skin, Eczema	ORPHA:2101
Phenylketonuria	Fair hair, Eczema, Dry skin	OMIM:261600
Leopard Syndrome 2	Curly hair, Dry skin	OMIM:611554
Epidermolytic Palmoplantar Keratoderma	Abnormal fingernail morphology, Epidermal acanthosis, Epidermal hyperkeratosis, Diffuse palmoplan...	ORPHA:2199
Congenital Disorder Of Glycosylation, Type Iq	Eczema, Cutis laxa, Hyperkeratosis, Dry skin, Hypertrichosis	OMIM:612379
Prolidase Deficiency	Abnormal fingernail morphology, Pruritus, Erythema, Low anterior hairline, Crusting erythematous ...	ORPHA:742
Bjornstad Syndrome	Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t...	OMIM:262000
Ectodermal Dysplasia 7, Hair/Nail Type	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa...	OMIM:614929
Immunodeficiency, Common Variable, 3	Recurrent respiratory infections, Recurrent bacterial infections, Conjunctivitis, Recurrent sinus...	OMIM:613493
Spinocerebellar Ataxia 34	Epidermal hyperkeratosis, Erythroderma	OMIM:133190
Subacute Cutaneous Lupus Erythematosus	Psoriasiform lesion, Discoid lupus rash, Cheilitis, Hyperkeratosis, Malar rash	ORPHA:163525
Immunodeficiency With Hyper-Igm, Type 4	Osteomyelitis, Recurrent upper respiratory tract infections, Bronchiectasis, Recurrent bacterial ...	OMIM:608184
Trichothiodystrophy 7, Nonphotosensitive	Tiger tail banding, Brittle hair	OMIM:618546
Kid Syndrome	Angular cheilitis, Scarring alopecia of scalp, Posterior blepharitis, Recurrent cutaneous fungal ...	ORPHA:477
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Hyperkeratosis, Erythema, Dry skin, Scaling skin	OMIM:614457
Non-Epidermolytic Palmoplantar Keratoderma	Pruritus, Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer	ORPHA:2337
Sjögren-Larsson Syndrome	Hyperkeratosis, Erythema, Dry skin, Inflammatory abnormality of the eye	ORPHA:816
Bullous Impetigo	Pustule, Recurrent bacterial skin infections, Sepsis, Septic arthritis	ORPHA:36237
Pruritic Urticarial Papules And Plaques Of Pregnancy	Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Facial erythema, Pruritis on hand...	ORPHA:64745
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Sinusitis, Slow-growing hair, Eczema, Trichorrhexis nodosa, Hyperkeratosi...	ORPHA:238468
Harlequin Ichthyosis	Hyperkeratosis, Erythroderma	ORPHA:457
Immunodeficiency 61	Recurrent respiratory infections, Frequent Giardia lamblia infestation, Arthritis, Recurrent bact...	OMIM:300310
Onychotrichodysplasia And Neutropenia	Curly hair, Curly eyelashes, Concave nail, Sparse pubic hair, Short eyelashes, Trichorrhexis nodo...	OMIM:258360
Drug Reaction With Eosinophilia And Systemic Symptoms	Skin rash, Pustule, Myocarditis, Erythema, Hepatitis, Thyroiditis, Tubulointerstitial nephritis, ...	ORPHA:139402
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Alopecia, Psoriasiform lesion, Erythroderma	ORPHA:169154
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Recurrent skin infections, Pruritus, Recurrent pneumonia, Cheilitis, Palmoplantar ke...	ORPHA:158668
Psoriasis 14, Pustular	Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Cholangitis, Pustule, Erythema, Oli...	OMIM:614204
Agammaglobulinemia 3, Autosomal Recessive	Recurrent otitis media, Recurrent bacterial infections, Recurrent lower respiratory tract infecti...	OMIM:613501
Cardiofaciocutaneous Syndrome 3	Hyperkeratosis, Curly hair	OMIM:615279
Diffuse Cutaneous Mastocytosis	Pruritus, Scaling skin, Erythroderma	ORPHA:79456
Trichothiodystrophy 6, Nonphotosensitive	Tiger tail banding, Brittle hair, Slow-growing hair, Dry skin	OMIM:616943
Congenital Disorder Of Glycosylation, Type Im	Alopecia, Inflammatory abnormality of the skin, Sparse eyelashes, Sparse eyebrow, Hyperkeratosis,...	OMIM:610768
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Recurrent...	OMIM:243700
Infantile Digital Fibromatosis	Hyperkeratosis, Parakeratosis, Epidermal acanthosis	ORPHA:199267
Cutaneous Mastocytoma	Pruritus, Erythema, Maculopapular exanthema, Scaling skin	ORPHA:79455
Immunodeficiency With Hyper-Igm, Type 2	Recurrent respiratory infections, Recurrent upper and lower respiratory tract infections, Recurre...	OMIM:605258
Immunodeficiency With Hyper-Igm, Type 5	Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections, Epididymitis	OMIM:608106
Immunodeficiency 58	Recurrent cutaneous abscess formation, Psoriasiform lesion, Eczema, Allergic rhinitis, Seborrheic...	OMIM:618131
Uv-Sensitive Syndrome 3	Dry skin	OMIM:614640
Acral Self-Healing Collodion Baby	Palmoplantar scaling skin, Erythema, Lack of skin elasticity	ORPHA:281127
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Skin ulcer, Hyperkeratosis, Interstitial pneumonitis, Scali...	ORPHA:454831
Chilblain Lupus	Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Skin ulcer, Hyperkeratosis, ...	ORPHA:90280
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent sinopulmonary infections, Atrophic gastritis, Alopecia, Recurrent skin infections, Recu...	OMIM:616576
Noonan Syndrome 5	Curly hair, Sparse eyebrow, Fine hair, Small nail, Dry skin	OMIM:611553
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia, Glomerulonephritis, Eczema, Hepatitis, Arthritis, Erythroderma	OMIM:304790
Erythrokeratodermia Variabilis Et Progressiva 7	Woolly hair, Dystrophic toenail	OMIM:619209
Thyrotropin-Releasing Hormone Deficiency	Dry skin	OMIM:275120
Ameloonychohypohidrotic Syndrome	Dry skin, Onycholysis, Seborrheic dermatitis	OMIM:104570
Complement Factor I Deficiency	Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Recurrent Haem...	OMIM:610984
Night Blindness, Congenital Stationary, Type 1C	Dry skin	OMIM:613216
Ectodermal Dysplasia With Mental Retardation And Syndactyly	Sparse eyebrow, Dry skin, Onychogryposis of toenails	OMIM:600906
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Sinusitis,...	ORPHA:83471
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,...	OMIM:209920
Familial Melanoma	Abnormal hair morphology, Dry skin	ORPHA:618
Microcephalic Primordial Dwarfism, Montreal Type	Abnormal hair quantity, Low posterior hairline, Premature graying of hair, Alopecia of scalp, Dry...	ORPHA:2617
Congenital Heart Defects And Ectodermal Dysplasia	Medial flaring of the eyebrow, Sparse scalp hair, High anterior hairline, Dry skin, Fragile nails	OMIM:617364
Familial Hemophagocytic Lymphohistiocytosis	Maculopapular exanthema, Skin rash, Colitis, Erythroderma, Ecchymosis, Infectious encephalitis, P...	ORPHA:540
Porphyria Cutanea Tarda, Type I	Eczema, Hypertrichosis	OMIM:176090
Cardiofaciocutaneous Syndrome 4	Absent eyebrow, Curly hair, Sparse eyelashes, Palmoplantar hyperkeratosis, Sparse hair, Alopecia ...	OMIM:615280
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Plantar hyperkeratosis, Pruritus, Hyperkeratosis, Nail dystrophy, Palmar hyperkeratosis	ORPHA:79399
Craniosynostosis-Mental Retardation-Clefting Syndrome	Dry skin	OMIM:218650
Lichen Planopilaris	Alopecia, Abnormal fingernail morphology, Pruritus, Hepatitis, Skin ulcer, Hyperkeratosis, Onycho...	ORPHA:525
Uv-Sensitive Syndrome 1	Dry skin	OMIM:600630
Lichen Planus Pemphigoides	Pruritus, Hyperkeratosis, Conjunctivitis, Skin vesicle, Blepharitis, Abnormality of the nail	ORPHA:254478
Acrokeratosis Verruciformis Of Hopf	Parakeratosis, Epidermal acanthosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Leukonyc...	ORPHA:79151
Inflammatory Bowel Disease 28, Autosomal Recessive	Perianal abscess, Enterocolitis, Folliculitis, Pyoderma, Colitis, Crohn's disease	OMIM:613148
Clouston Syndrome	Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Pa...	OMIM:129500
Lipoid Proteinosis Of Urbach And Wiethe	Hyperkeratosis, Patchy alopecia, Reduced epidermal extracellular matrix protein 1 protein expression	OMIM:247100
Pachyonychia Congenita 2	Sparse scalp hair, Dry hair, Subungual hyperkeratosis, Angular cheilitis, Sparse eyebrow, Palmopl...	OMIM:167210
Hypodontia-Dysplasia Of Nails Syndrome	Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Thin toenail, Ridged fingernail,...	ORPHA:2228
Agammaglobulinemia 4, Autosomal Recessive	Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia, Chronic sinusitis	OMIM:613502
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Recurrent sinopulmonary infections, Skin rash, Recurrent pneumonia, Chronic mucocutaneous candidi...	OMIM:147060
Zinc Deficiency, Transient Neonatal	Alopecia, Eczema	OMIM:608118
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Recurrent herpes, Cholangitis, Sepsis, Pulmonary tuberculosis, Cholecystitis, ...	ORPHA:183675
Psoriasis 1, Susceptibility To	Psoriasiform dermatitis, Nail pits, Arthritis, Onycholysis, Onychomadesis	OMIM:177900
Complex Regional Pain Syndrome	Abnormality of hair growth, Erythema, Slow-growing nails, Dry skin	ORPHA:83452
Agammaglobulinemia 6, Autosomal Recessive	Recurrent pneumonia, Recurrent bacterial infections, Conjunctivitis, Recurrent otitis media, Chro...	OMIM:612692
Omenn Syndrome	Alopecia, Pneumonia, Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal...	OMIM:603554
Rat-Bite Fever	Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca...	ORPHA:31205
Cortisone Reductase Deficiency 1	Alopecia, Acne, Hirsutism	OMIM:604931
Adiposis Dolorosa	Recurrent skin infections, Sparse axillary hair, Sparse pubic hair, Arthritis, Dry skin	ORPHA:36397
Erythrokeratodermia Variabilis Et Progressiva 6	Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate	OMIM:618531
Choroidal Atrophy-Alopecia Syndrome	Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye...	ORPHA:1433
Autoinflammation With Arthritis And Dyskeratosis	Epidermal acanthosis, Thyroiditis, Uveitis, Palmoplantar hyperkeratosis, Keratoconjunctivitis sic...	OMIM:617388
Acrodermatitis Enteropathica	Ridged nail, Abnormal eyebrow morphology, Alopecia, Pustule, Paronychia, Erythema, Cheilitis, Ski...	ORPHA:37
Hypotrichosis With Juvenile Macular Degeneration	Sparse scalp hair, Brittle hair, Fine hair, Hyperkeratosis, Pili torti	ORPHA:1573
Ataxia-Photosensitivity-Short Stature Syndrome	Dry skin	ORPHA:1184
Ichthyosis, Congenital, Autosomal Recessive 8	Orthokeratosis, Hyperkeratosis, Erythema, Epidermal acanthosis	OMIM:613943
Intellectual Developmental Disorder, Autosomal Dominant 34	Curly hair, Synophrys, Coarse hair	OMIM:616351
Erythroderma Desquamativum	Seborrheic dermatitis	ORPHA:314
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Dry skin, Follicular hyperkeratosis	OMIM:617066
White Sponge Nevus 2	Hyperparakeratosis, Epidermal acanthosis	OMIM:615785
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	Brittle hair, Absent nipple, Sparse hair, Dry skin, Absent hair	OMIM:614940
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Absent eyelashes, Rhinitis, H...	OMIM:614941
Whim Syndrome 1	Recurrent bacterial infections, Recurrent upper respiratory tract infections, Bronchiectasis	OMIM:193670
Bone Marrow Failure Syndrome 4	Dry skin, Eczema	OMIM:618116
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Fragile nails, Fine hair	ORPHA:500166
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Curly hair, Curly eyelashes, Multiple rows of eyelashes, Low posterior hairline, Nail dysplasia, ...	ORPHA:163654
Complement Factor H Deficiency	Recurrent bacterial infections	OMIM:609814
Immunodeficiency 33	Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Disseminated nontuberculous myc...	OMIM:300636
Immunodeficiency, Common Variable, 2	Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infections, Conjunctivitis, Recurrent si...	OMIM:240500
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Skin rash, Pneumonia, Recurrent viral infections, Lymphadeni...	ORPHA:911
Bazex-Dupré-Christol Syndrome	Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor...	ORPHA:113
Agammaglobulinemia 7, Autosomal Recessive	Erythema nodosum, Recurrent respiratory infections, Recurrent infections	OMIM:615214
Rapp-Hodgkin Syndrome	Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Dry skin, Fine hair, P...	OMIM:129400
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Keratitis, Facial erythem...	OMIM:612843
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Eczema, Invasive fungal infection, Recurrent mycobacterial infections, Severe viral infection, Ch...	ORPHA:98813
Basan Syndrome	Palmoplantar keratoderma, Epidermal acanthosis, Nail dystrophy	OMIM:129200
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent respiratory infections, Recurrent herpes, Sinusitis, Skin rash, Recurrent viral infecti...	ORPHA:572
Bazex-Dupre-Christol Syndrome	Eczema, Trichorrhexis nodosa, Atopic dermatitis, Coarse hair, Sparse hair, Trichoepithelioma, Pil...	OMIM:301845
Rhizomelic Chondrodysplasia Punctata	Alopecia, Dry skin, Sparse body hair	ORPHA:177
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, R...	OMIM:307200
Ectodermal Dysplasia-Syndactyly Syndrome 1	Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h...	OMIM:613573
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec...	OMIM:233710
Immunodeficiency 85 And Autoimmunity	Oligoarthritis, Eczema, Erythroderma	OMIM:619510
Naegeli-Franceschetti-Jadassohn Syndrome	Subungual hyperkeratosis, Decreased number of sweat glands, Punctate palmoplantar hyperkeratosis,...	ORPHA:69087
Erythema Nodosum, Familial	Erythema nodosum, Erythema	OMIM:132990
Hyperkeratosis Lenticularis Perstans	Pruritus, Hyperkeratosis lenticularis perstans, Skin ulcer	ORPHA:409
Generalized Pustular Psoriasis	Pustule, Cheilitis, Uveitis, Arthritis, Palmoplantar pustulosis, Erythroderma, Abnormality of the...	ORPHA:247353
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Sparse hair, Fine hair	ORPHA:1174
Noonan Syndrome 6	Sparse hair, Curly hair, Long eyebrows, Low posterior hairline	OMIM:613224
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Absent eyebrow, Alopecia, Sparse scalp hair, Perianal erythema, Eczema, Recurrent skin infections...	OMIM:308205
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Recurrent skin infections, Recurrent upper respiratory tract infections, Atopic dermatitis, Recur...	OMIM:618944
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Dystrophic fingernails, Dystrophic toenail	ORPHA:1882
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities	Elbow hypertrichosis, Dry skin, Long eyelashes, Eczema	OMIM:620191
Hatipoglu Immunodeficiency Syndrome	Fair hair, Eczema, Atopic dermatitis, Premature graying of hair, Recurrent otitis media, Dry skin...	OMIM:620331
Atelis Syndrome 1	Dry skin, Eczema, Bronchiectasis	OMIM:620184
Noonan Syndrome 9	Sparse eyebrow, Curly hair	OMIM:616559
Graft Versus Host Disease	Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ga...	ORPHA:39812
Selective Igm Deficiency	Fasciitis, Recurrent herpes, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella...	ORPHA:331235
Riddle Syndrome	Dry skin	OMIM:611943
Adult Syndrome	Sparse scalp hair, Alopecia, Absent nipple, Skin ulcer, Fine hair, Nail pits, Hypoplastic nipples...	ORPHA:978
Elastoderma	Premature skin wrinkling, Erysipelas, Eczema, Cutis laxa	ORPHA:228240
Immunodeficiency 25	Recurrent pneumonia, Erythroderma	OMIM:610163
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Parakeratosis, Pruritus, Palmoplantar hyperkeratosis, Nail dystrophy, Erythema migrans, Skin vesicle	ORPHA:158681
Olmsted Syndrome 1	Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos...	OMIM:614594
Lymphoproliferative Syndrome, X-Linked, 2	Recurrent respiratory infections, Acne, Recurrent skin infections, Erythema nodosum, Hepatitis, R...	OMIM:300635
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Abnormal hair whorl, Synophrys, Low posterior hairline, Nail dystrophy, Dry skin, Hirsutism	OMIM:300860
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec...	OMIM:233690
Immunodeficiency, Common Variable, 1	Pneumonia, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infections, Conjunctivitis, R...	OMIM:607594
Wiskott-Aldrich Syndrome 2	Eczema, Recurrent infections	OMIM:614493
Distal Duplication 6P	Abnormal eyelash morphology, Fine hair, Dry skin, Abnormal hair quantity	ORPHA:1745
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Dry skin, Follicular hyperkeratosis	ORPHA:486815
Trichothiodystrophy 8, Nonphotosensitive	Eczema, Sparse eyebrow, Cutis laxa, Sparse hair, Woolly hair, Trichorrhexis nodosa	OMIM:619691
Adult Syndrome	Sparse scalp hair, Absent nipple, Fair hair, Eczema, Sparse axillary hair, Dry skin, Nail pits, C...	OMIM:103285
Tooth Agenesis, Selective, 4	Sparse scalp hair, Sparse eyebrow, Short eyelashes, Palmar hyperkeratosis, Dry skin, Dystrophic f...	OMIM:150400
Palmoplantar Keratoderma, Punctate Type Ia	Orthokeratosis, Punctate palmoplantar hyperkeratosis, Epidermal acanthosis	OMIM:148600
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Sparse hair, Curly hair, Synophrys, Sparse eyebrow	OMIM:620075
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric...	OMIM:225060
Psoriasis-Related Juvenile Idiopathic Arthritis	Anterior uveitis, Psoriasiform dermatitis, Psoriasiform lesion, Skin rash, Pruritus, Iridocycliti...	ORPHA:85436
Trichothiodystrophy	Ridged nail, Sparse scalp hair, Congenital exfoliative erythroderma, Brittle hair, Split nail, Ec...	ORPHA:33364
Hawkinsinuria	Sparse hair, Fine hair	ORPHA:2118
X-Linked Severe Congenital Neutropenia	Recurrent bacterial infections	ORPHA:86788
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Recurrent bacterial skin infections, Recurrent herpes, Skin rash, Pneumonia, Severe recurrent var...	ORPHA:276
Recon Progeroid Syndrome	Hyperconvex thumb nails, Absent lower eyelashes, Keratoconjunctivitis sicca, Scaling skin, Dry sk...	OMIM:620370
Bleeding Disorder, Platelet-Type, 21	Alopecia, Psoriasiform dermatitis, Eczema, Recurrent viral infections	OMIM:617443
Giant Axonal Neuropathy 1, Autosomal Recessive	Curly hair	OMIM:256850
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2	Patchy palmoplantar hyperkeratosis	OMIM:616400
Huriez Syndrome	Congenital palmoplantar hyperkeratosis, Epidermal acanthosis, Nail dystrophy, Small nail	OMIM:181600
Epidermodysplasia Verruciformis	Pustule, Recurrent skin infections, Seborrheic dermatitis	ORPHA:302
Trichothiodystrophy 2, Photosensitive	Coarse hair, Tiger tail banding	OMIM:616390
Chondrodysplasia Punctata 2, X-Linked Dominant	Sparse eyelashes, Sparse eyebrow, Patchy alopecia, Erythroderma, Sparse hair	OMIM:302960
Porphyria Cutanea Tarda	Recurrent bacterial skin infections, Viral hepatitis, Chronic hepatitis, Cutaneous abscess, Scali...	ORPHA:101330
Ichthyosis, Congenital, Autosomal Recessive 2	Alopecia, Epidermal acanthosis, Thin nail, Abnormal hair morphology, Erythema, Hyperkeratosis, Pa...	OMIM:242100
Singleton-Merten Syndrome 2	Hyperkeratosis, Psoriasiform lesion	OMIM:616298
Bacterial Toxic-Shock Syndrome	Fasciitis, Sinusitis, Myositis, Pneumonia, Osteomyelitis, Skin rash, Glomerulonephritis, Recurren...	ORPHA:36234
Xeroderma Pigmentosum Variant	Keratitis, Dry skin	ORPHA:90342
Braddock-Carey Syndrome 1	Sparse hair, Curly hair	OMIM:619980
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Hyperkeratosis, Parakeratosis, Dry skin, Epidermal acanthosis	OMIM:618527
Noonan Syndrome 14	Curly hair, Sparse eyebrow, Low posterior hairline, Sparse hair, Dry skin	OMIM:619745
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Eczema, Lymphadenitis, Inflammation of the large intestine, Nail dystrophy, Erythroderma	OMIM:615895
Inflammatory Bowel Disease 25, Autosomal Recessive	Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Recurrent bronchitis	OMIM:612567
Mpdu1-Cdg	Eczema, Scaling skin	ORPHA:79323
Inflammatory Skin And Bowel Disease, Neonatal, 2	Pustule, Recurrent pneumonia, Long eyelashes, Epidermal acanthosis	OMIM:616069
Ectodermal Dysplasia 13, Hair/Tooth Type	Brittle hair, Sparse eyelashes, Low anterior hairline, Thin eyebrow	OMIM:617392
Ectodermal Dysplasia/Short Stature Syndrome	Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Anonychia	OMIM:616029
Psoriasis 15, Pustular, Susceptibility To	Psoriasiform dermatitis, Nail dystrophy	OMIM:616106
Idiopathic Trachyonychia	Ridged nail, Thin nail, Concave nail, Atopic dermatitis, Nail pits, Patchy alopecia, Nail dystrop...	ORPHA:79153
Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy	Anterior cervical hypertrichosis, Osteomyelitis	OMIM:239840
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Subungual hyperkeratosis, Eczema, Scarring alopecia of scalp, Hypoplastic sweat glands, Nail dyst...	OMIM:617337
Immunodeficiency 12	Skin rash, Recurrent viral infections, Cheilitis, Bronchiectasis, Recurrent bacterial infections,...	OMIM:615468
Specific Granule Deficiency 2	Recurrent pneumonia, Hirsutism, Sepsis, Recurrent bacterial infections, Nail dysplasia, Recurrent...	OMIM:617475
Cole Disease	Epidermal acanthosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratode...	OMIM:615522
Jung Syndrome	Dry skin, Low posterior hairline	ORPHA:2321
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Highly arched eyebrow, Low anterior hairline, Hirsutism, Woolly hair, Dry skin, Broad eyebrow	OMIM:619244
Spinocerebellar Ataxia Type 34	Dry skin	ORPHA:1955
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Curly hair, Redundant neck skin, Highly arched eyebrow, Low posterior hairline, Thick eyebrow	OMIM:617360
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse	Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal acanthosis	OMIM:615735
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Eczema, Concave nail, Absent eyela...	OMIM:305100
Autosomal Dominant Severe Congenital Neutropenia	Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia, Recurrent ear infection...	ORPHA:486
Uremic Pruritus	Pruritus, Inflammatory abnormality of the skin, Dry skin, Recurrent skin infections	ORPHA:94059
Leukocyte Adhesion Deficiency, Type I	Recurrent gram-negative bacterial infections, Osteomyelitis, Recurrent staphylococcal infections,...	OMIM:116920
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Sparse hair, Hyperkeratosis, Coarse hair, Brittle hair	ORPHA:1883
Palmoplantar Carcinoma, Multiple Self-Healing	Parakeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Nail dystrophy, Chronic rhinitis, ...	OMIM:615225
Glycosylphosphatidylinositol Biosynthesis Defect 25	Sparse hair, Coarse hair	OMIM:619985
Specific Granule Deficiency 1	Recurrent bacterial infections	OMIM:245480
Adult Idiopathic Neutropenia	Helicobacter pylori infection, Recurrent infections, Recurrent bacterial infections, Recurrent fu...	ORPHA:2688
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Sparse hair, Dry skin	OMIM:268020
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Dry skin, Onychauxis, Hypertrichosis	OMIM:262190
Cardiofaciocutaneous Syndrome 1	Absent eyebrow, Curly hair, Slow-growing hair, Absent eyelashes, Atopic dermatitis, Low posterior...	OMIM:115150
19Q13.11 Microdeletion Syndrome	Supernumerary nipple, Fine hair, Sparse or absent eyelashes, Nail dysplasia, Sparse hair, Dry ski...	ORPHA:217346
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Psoriasiform lesion, Pneumonia, Erythema nodosum, Recurrent pneumonia, Bronch...	OMIM:614700
Hypothyroidism, Congenital, Nongoitrous, 6	Dry skin	OMIM:614450
Hypothyroidism, Congenital, Nongoitrous, 4	Dry skin	OMIM:275100
Acrokeratoelastoidosis Of Costa	Orthokeratosis, Hyperkeratotic papule, Epidermal acanthosis, Palmoplantar hyperkeratosis	ORPHA:38
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Curly hair, Sparse scalp hair, Eczema, Hyperkeratosis, Loose anagen hair, Long eyelashes, Sparse ...	OMIM:607721
Lymphatic Malformation 3	Recurrent skin infections	OMIM:613480
Combined Immunodeficiency Due To Crac Channel Dysfunction	Pneumonia, Recurrent viral infections, Recurrent mycobacterial infections, Sepsis, Recurrent bact...	ORPHA:169090
Noonan Syndrome 7	Curly hair, Low posterior hairline	OMIM:613706
Radio-Tartaglia Syndrome	Thick eyebrow, Striae distensae, Highly arched eyebrow, Long eyebrows, Synophrys, Low anterior ha...	OMIM:619312
Ectodermal Dysplasia And Immunodeficiency 1	Severe cytomegalovirus infection, Recurrent bacterial infections, Aplasia of the eccrine sweat gl...	OMIM:300291
Amaurosis-Hypertrichosis Syndrome	Abnormal eyelash morphology, Synophrys, Coarse hair, Thick eyebrow	ORPHA:1021
Iga Pemphigus	Neutrophilic infiltration of the skin, Acantholysis, Pustule, Pruritus, Ulcerative colitis, Skin ...	ORPHA:555905
Thyroid Dyshormonogenesis 1	Dry skin	OMIM:274400
Ige Responsiveness, Atopic	Eczema, Allergic rhinitis	OMIM:147050
Smith-Kingsmore Syndrome	Curly hair	OMIM:616638
Arthrogryposis And Ectodermal Dysplasia	Absent eyebrow, Trichiasis, Hyperkeratosis, Nail dysplasia, Trichodysplasia, Dry skin	OMIM:601701
Cardiofaciocutaneous Syndrome	Brittle hair, Slow-growing hair, Redundant skin, Abnormal eyelash morphology, Low posterior hairl...	ORPHA:1340
Atopic Keratoconjunctivitis	Keratitis, Loss of eyelashes, Keratoconjunctivitis sicca, Dry skin, Blepharitis	ORPHA:163934
Tangier Disease	Dry skin, Nail dystrophy, Nail dysplasia	OMIM:205400
Familial Benign Chronic Pemphigus	Skin vesicle, Hyperkeratosis, Erythema, Acantholysis	ORPHA:2841
Noonan Syndrome 10	Sparse eyebrow, Curly hair, Hyperkeratosis, Palmoplantar cutis laxa	OMIM:616564
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Woolly hair, Palmoplantar keratoderma	OMIM:611528
Trichohepatoneurodevelopmental Syndrome	Curly hair, Pruritus, Synophrys, Coarse hair, Long eyelashes, Hypoplastic nipples, Recurrent panc...	OMIM:618268
Noonan Syndrome 2	Curly hair, Sparse eyebrow, Low posterior hairline, Hyperkeratosis, Palmoplantar cutis laxa	OMIM:605275
Bachmann-Bupp Syndrome	Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Small nail, Dry skin	OMIM:619075
Juvenile Dermatomyositis	Alopecia, Myositis, Pericarditis, Skin rash, Pruritus, Erythema, Skin ulcer, Arthritis, Dry skin	ORPHA:93672
Noonan Syndrome 13	Highly arched eyebrow, Low posterior hairline, Recurrent otitis media, Dry skin, Generalized hirs...	OMIM:619087
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Cholangitis, Eczema, Pruritus, Chronic hepatitis, Arthritis...	ORPHA:3260
Peroxisome Biogenesis Disorder 14B	Dry skin	OMIM:614920
Chops Syndrome	Curly hair, Thick hair, Synophrys, Coarse hair, Long eyelashes, Aspiration pneumonia, Thick eyebrow	OMIM:616368
Immunodeficiency, Common Variable, 6	Recurrent respiratory infections, Recurrent bacterial infections, Glomerulonephritis	OMIM:613496
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Curly hair	OMIM:300986
Trichothiodystrophy 4, Nonphotosensitive	Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Nail dystrophy, Small ...	OMIM:234050
Immunodeficiency 67	Recurrent streptococcal infections, Recurrent staphylococcal infections	OMIM:607676
Incontinentia Pigmenti	Ridged nail, Alopecia, Maculopapular exanthema, Supernumerary nipple, Keratitis, Erythema, Uveiti...	OMIM:308300
Oculodentodigital Dysplasia	Curly hair, Brittle hair, Slow-growing hair, Abnormal fingernail morphology, Fine hair, Palmoplan...	ORPHA:2710
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Redundant skin, Seborrheic dermatitis, Erythema, Palmoplantar hyperkeratosis, Arthritis, Eczemato...	OMIM:259100
Agel Amyloidosis	Pruritus, Cutis laxa, Keratoconjunctivitis sicca, Nail dystrophy, Sparse hair, Dry skin	ORPHA:85448
Ritscher-Schinzel Syndrome 4	Curly hair	OMIM:619435
Noonan Syndrome 4	Sparse eyebrow, Curly hair, High anterior hairline	OMIM:610733
Beta-Mercaptolactate Cysteine Disulfiduria	Dry skin	ORPHA:1035
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Dry skin	ORPHA:3085
Immunodeficiency, Common Variable, 13	Recurrent bacterial infections	OMIM:616873
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Low anterior hairline, Horizontal eyebrow, High anterior hairline, Dry skin, Thick eyebrow	OMIM:618797
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Curly hair, Dermal translucency, Slow-growing hair, Highly arched eyebrow, Low posterior hairline...	OMIM:617506
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Recurrent bacterial infections	OMIM:610738
Keratolytic Winter Erythema	Pustule	ORPHA:50943
Acrogeria	Excessive wrinkled skin, Skin ulcer, Fine hair	ORPHA:2500
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Curly hair	ORPHA:457485
Progeroid Syndrome, Petty Type	Brittle hair, Redundant skin, Abnormal hair morphology, Cutis laxa, Abnormality of the nail, Long...	ORPHA:2963
Ectodermal Dysplasia-Blindness Syndrome	Abnormal fingernail morphology, Skin ulcer, Fine hair, Hyperkeratosis, Keratoconjunctivitis sicca...	ORPHA:1806
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Melanonychia, Abnormal eyelash morphology, Abnormal hair morphology, Leukonychia, Skin ulcer, Pan...	ORPHA:2526
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Perianal erythema, Paronychia, Alopecia of scalp, Perioral erythema, Dry skin	OMIM:201100
Immunodeficiency 10	Recurrent bacterial infections, Nail dysplasia, Recurrent infections	OMIM:612783
Squalene Synthase Deficiency	Dry skin, Abnormality of hair pigmentation	OMIM:618156
Congenital Disorder Of Glycosylation, Type Iil	Hyperkeratosis, Inflammation of the large intestine, Dry skin	OMIM:614576
Interstitial Granulomatous Dermatitis With Arthritis	Pruritus, Inflammatory abnormality of the skin, Erythema, Rheumatoid arthritis	ORPHA:79099
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Erythroderma	OMIM:617425
Immunodeficiency With Hyper-Igm, Type 3	Recurrent bacterial infections	OMIM:606843
Bullous Pemphigoid	Psoriasiform dermatitis, Eczema, Recurrent infections	ORPHA:703
Papillon-Lefèvre Syndrome	Recurrent cutaneous abscess formation, Recurrent respiratory infections, Severe periodontitis, Re...	ORPHA:678
Cernunnos-Xlf Deficiency	Recurrent bacterial infections, Recurrent viral infections	ORPHA:169079
Leukocyte Adhesion Deficiency, Type Iii	Recurrent bacterial infections, Recurrent skin infections, Sepsis	OMIM:612840
Dyskeratosis Congenita, Autosomal Dominant 3	Alopecia, Fine hair, Premature graying of hair, Nail dysplasia, Dry skin	OMIM:613990
Myoectodermal Gonadal Dysgenesis Syndrome	Highly arched eyebrow, Sparse eyebrow, Sparse pubic hair, Frontal upsweep of hair, Scaling skin, ...	OMIM:618419
Tricho-Retino-Dento-Digital Syndrome	Uncombable hair, Sparse hair	ORPHA:1264
Proteasome-Associated Autoinflammatory Syndrome 2	Neutrophilic infiltration of the skin, Recurrent bacterial infections, Skin rash, Recurrent viral...	OMIM:618048
Hereditary Mucoepithelial Dysplasia	Sparse hair, Hyperkeratosis, Alopecia, Fine hair	ORPHA:1839
Eec Syndrome	Slow-growing hair, Sparse eyebrow, Keratitis, Nail pits, Fine hair, Inflammatory abnormality of t...	ORPHA:1896
Ddost-Cdg	Dry skin	ORPHA:300536
Agammaglobulinemia 1, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infect...	OMIM:601495
Proteus Syndrome	Hyperkeratosis, Epidermal acanthosis	OMIM:176920
Chand Syndrome	Curly hair, Dry skin, Nail dysplasia	ORPHA:1401
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Sinusitis, Recurrent opportunistic infections, Recurrent pn...	ORPHA:277
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Acne, Seborrheic dermatitis	OMIM:614441
Autosomal Dominant Hypocalcemia	Alopecia, Abnormal fingernail morphology, Eczema, Dry skin, Abnormality of the nail	ORPHA:428
9P13 Microdeletion Syndrome	Hyperconvex nail, Highly arched eyebrow, Hypoplastic toenails, Recurrent otitis media, Dry skin, ...	ORPHA:324313
Weaver Syndrome	Deep-set nails, Abnormal fingernail morphology, Redundant skin, Thin nail, Hypoplastic toenails, ...	ORPHA:3447
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Curly hair	ORPHA:85184
Cranioectodermal Dysplasia 3	Short nail, Broad nail, Cutis laxa, Fine hair, Sparse hair, Dry skin	OMIM:614099
Hypotrichosis 14	Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair	OMIM:618275
Trichohepatoenteric Syndrome 1	Curly hair, Brittle hair, Fine hair, Sparse hair, Woolly hair, Trichorrhexis nodosa	OMIM:222470
Trichohepatoenteric Syndrome 2	Brittle hair, Uncombable hair, Sparse hair, Woolly hair, Trichorrhexis nodosa	OMIM:614602
Granulomatous Disease, Chronic, X-Linked	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec...	OMIM:306400
Chronic Mucocutaneous Candidiasis	Skin rash, Abnormal fingernail morphology, Pruritus, Erythema, Hepatitis, Skin ulcer, Cheilitis, ...	ORPHA:1334
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Supernumerary nipple, Aplastic/hypoplastic toenail, Fine hair, Dry skin, Aplasia/Hypoplasia of th...	ORPHA:1812
Biotinidase Deficiency	Alopecia, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Conjunctivitis	OMIM:253260
Immunodeficiency 55	Dry skin, Recurrent skin infections, Eczema	OMIM:617827
Pressure-Induced Localized Lipoatrophy	Inflammatory abnormality of the skin	ORPHA:90160
Craniofrontonasal Syndrome	Ridged nail, Curly hair, Split nail, Widow's peak, Low posterior hairline, Unilateral breast hypo...	OMIM:304110
Pgm3-Cdg	Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Osteomyelitis, Eczema...	ORPHA:443811
Hydroxykynureninuria	Stomatitis, Dry skin	ORPHA:79155
Chromosome 19Q13.11 Deletion Syndrome, Distal	Sparse eyelashes, Sparse eyebrow, Nail dysplasia, Sparse hair, Dry skin	OMIM:613026
Darier-White Disease	Pruritus, Ridged nail, Subungual hyperkeratotic fragments, Acantholysis	OMIM:124200
Odontotrichoungual-Digital-Palmar Syndrome	Nail dystrophy, Nail dysplasia, Abnormality of hair texture	OMIM:601957
Pachydermoperiostosis	Abnormal hair quantity, Osteomyelitis, Acne, Abnormal fingernail morphology, Abnormal hair patter...	ORPHA:2796
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Dry skin	ORPHA:95715
Punctate Palmoplantar Keratoderma Type 1	Epidermal acanthosis, Abnormal epidermal morphology, Palmoplantar hyperkeratosis, Palmoplantar ke...	ORPHA:79501
Letterer-Siwe Disease	Stomatitis, Pallor, Seborrheic dermatitis	OMIM:246400
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Recurrent bacterial infections	OMIM:202700
Purine Nucleoside Phosphorylase Deficiency	Recurrent urinary tract infections, Sinusitis, Pneumonia, Recurrent viral infections, Recurrent o...	OMIM:613179
Limb-Mammary Syndrome	Alopecia, Absent nipple, Psoriasiform dermatitis, Chronic irritative conjunctivitis, Sparse eyebr...	ORPHA:69085
Sulfite Oxidase Deficiency, Isolated	Eczema, Fine hair	OMIM:272300
Hypocomplementemic Urticarial Vasculitis	Episcleritis, Skin rash, Pruritus, Meningitis, Uveitis, Arthritis, Recurrent bacterial infections...	ORPHA:36412
Mycosis Fungoides	Pruritus, Psoriasiform dermatitis, Eczema	OMIM:254400
Mucoepithelial Dysplasia, Hereditary	Alopecia, Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis...	OMIM:158310
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair	ORPHA:2221
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteomyelitis, Epidermal acanthosis, Skin rash, Pustule, Hyperkeratosis, Stomatitis	OMIM:612852
Fg Syndrome 3	Sparse hair, Frontal upsweep of hair, Fine hair	OMIM:300406
Immunodeficiency 57 With Autoinflammation	Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Inflamm...	OMIM:618108
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Skin rash, Recurrent viral infections, Lymphadenitis, Recurrent bacterial infections, Recurrent f...	ORPHA:331206
Riddle Syndrome	Pneumonia, Erythema, Recurrent pneumonia, Arthritis, Scaling skin, Otitis media, Recurrent sinusi...	ORPHA:420741
Immunodeficiency With Hyper-Igm, Type 1	Hepatitis, Sepsis, Chronic hepatitis, Sclerosing cholangitis, Recurrent bacterial infections, Chr...	OMIM:308230
Immunodeficiency 21	Osteomyelitis, Recurrent fungal infections, Recurrent mycobacterium avium complex infections, Rec...	OMIM:614172
Idiopathic Bronchiectasis	Acute infectious pneumonia, Recurrent lower respiratory tract infections, Bronchiectasis, Recurre...	ORPHA:60033
Koolen-De Vries Syndrome	Hypopigmentation of hair, Dry skin, Abnormality of hair texture	ORPHA:96169
Koolen-De Vries Syndrome	Fair hair, Eczema, Dry skin, Abnormality of hair texture	OMIM:610443
Immunodeficiency 68	Recurrent skin infections, Lymphadenitis, Sepsis, Recurrent meningitis, Septic arthritis	OMIM:612260
Costello Syndrome	Deep-set nails, Abnormal fingernail morphology, Redundant skin, Concave nail, Abnormal hair morph...	ORPHA:3071
Superficial Epidermolytic Ichthyosis	Erythema, Palmoplantar keratoderma, Acantholysis	ORPHA:455
Pemphigus Vulgaris	Recurrent cutaneous abscess formation, Acantholysis	ORPHA:704
Craniofrontonasal Dysplasia	Abnormality of hair texture, Widow's peak, Low posterior hairline, Ridged fingernail, Woolly hair	ORPHA:1520
Immunodeficiency 23	Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Allergic rhinitis, Ec...	OMIM:615816
Immunodeficiency 36 With Lymphoproliferation	Persistent CMV viremia, Recurrent upper respiratory tract infections, Bronchiectasis, Persistent ...	OMIM:616005
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Dry skin	ORPHA:226313
Cutis Laxa, Autosomal Recessive, Type Iia	Brittle hair, Redundant skin, Abnormality of hair texture, Cutis laxa, Excessive wrinkled skin, C...	OMIM:219200
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	Acne, Seborrheic dermatitis	OMIM:167100
Syndromic Diarrhea	Hypopigmentation of hair, Brittle hair, Gastritis, Colitis, Uncombable hair, Woolly hair, Dry ski...	ORPHA:84064
Ablepharon Macrostomia Syndrome	Absent eyebrow, Redundant skin, Abnormal hair pattern, Absent eyelashes, Fine hair, Excessive wri...	ORPHA:920
Refsum Disease	Dry skin, Nail dysplasia	ORPHA:773
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Curly hair, Low anterior hairline, Excessive wrinkled skin, Long eyelashes, Horizontal eyebrow, R...	OMIM:619950
Intellectual Developmental Disorder, Autosomal Dominant 54	Sparse hair, Dry skin, Eczema, Thin nail	OMIM:617799
21Q22.11Q22.12 Microdeletion Syndrome	Nail dystrophy, Hypoplastic nipples, Small nail, Recurrent otitis media, Dry skin	ORPHA:261323
Restrictive Dermopathy	Short nail, Epidermal hyperkeratosis, Sparse eyebrow, Aplasia/Hypoplastia of the eccrine sweat gl...	ORPHA:1662
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Woolly hair	OMIM:607450
Menkes Disease	Sparse hair, Alopecia, Brittle hair, Cutis laxa	OMIM:309400
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Medial flaring of the eyebrow, Sparse scalp hair, Thick eyebrow, Curly hair, Synophrys, Erythema,...	OMIM:619503
X-Linked Intellectual Disability, Nascimento Type	Lumbar hypertrichosis, Recurrent cutaneous abscess formation, Abnormal hair whorl, Synophrys, Low...	ORPHA:163956
Osteopenia-Intellectual Disability-Sparse Hair Syndrome	Sparse scalp hair, Fine hair	ORPHA:2324
Dubowitz Syndrome	Sparse scalp hair, Abnormal fingernail morphology, Eczema, Hypoplastic toenails, Low anterior hai...	ORPHA:235
Pachyonychia Congenita 3	Chapped lip, Plantar hyperkeratosis, Onychogryposis of toenails, Palmoplantar keratoderma, Nail d...	OMIM:615726
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Dry skin, Aplasia/Hypoplasia of the eyebrow, Fine hair	ORPHA:2637
Barber-Say Syndrome	Dermal translucency, Absent nipple, Sparse eyelashes, Redundant skin, Sparse eyebrow, Low anterio...	OMIM:209885
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv...	ORPHA:2968
Aicardi-Goutieres Syndrome 9	Acute pancreatitis, Dry skin, Chilblains, Pericarditis	OMIM:619487
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Curly hair, Abnormal fingernail morphology, Thick hair, Highly arched eyebrow, Hypoplastic toenai...	ORPHA:444077
Dermatomyositis	Abnormal hair quantity, Pericarditis, Pruritus, Myocarditis, Erythema, Skin ulcer, Arthritis, Dry...	ORPHA:221
Epidermolysis Bullosa, Lethal Acantholytic	Alopecia totalis, Acantholysis, Absent fingernail, Anonychia, Alopecia universalis	OMIM:609638
Postinfectious Vasculitis	Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ...	ORPHA:48435
Trichothiodystrophy 5, Nonphotosensitive	Brittle hair, Slow-growing hair, Sparse eyebrow, Reduced hair sulfur content, Sparse hair, Tiger ...	OMIM:300953
Hallermann-Streiff Syndrome	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Recurrent pneumonia, Fine hair, Sparse hair,...	OMIM:234100
Sheehan Syndrome	Sparse axillary hair, Hashimoto thyroiditis, Sparse pubic hair, Pallor, Dry skin, Breast hypoplasia	ORPHA:91355
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Dry skin, Skin rash	ORPHA:220295
Xeroderma Pigmentosum	Alopecia, Keratitis, Erythema, Hyperkeratosis, Dry skin, Blepharitis	ORPHA:910
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Recurrent urinary tract infections, Psoriasiform dermatitis, Recurrent ear infections, Recurrent ...	ORPHA:221139
Vulto-Van Silfhout-De Vries Syndrome	Widow's peak, Horizontal eyebrow, Fine hair	OMIM:615828
Rabson-Mendenhall Syndrome	Thick hair, Onychauxis, Low anterior hairline, Premature graying of hair, Dry skin, Hirsutism, Hy...	ORPHA:769
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Sepsis, Tubulointerstitial nephritis, Colitis, Meningitis, Alopecia, Psoriasiform derma...	ORPHA:37042
Nestor-Guillermo Progeria Syndrome	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dystrophy, Dry skin	OMIM:614008
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pneumonia, Recurrent viral infections...	OMIM:102700
Alg11-Cdg	Dry skin	ORPHA:280071
Ectodermal Dysplasia And Immunodeficiency 2	Sparse hair, Aplasia of the sweat glands, Dry skin, Sparse scalp hair	OMIM:612132
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Alopecia, Brittle hair	ORPHA:50812
Granulomatous Disease, Chronic, Autosomal Recessive, 3	Recurrent infections, Colitis, Recurrent aphthous stomatitis, Recurrent sinusitis, Perioral eczema	OMIM:613960
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	High anterior hairline, Long eyelashes, Fine hair	ORPHA:231137
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Coarse hair, Brittle hair, Nail dystrophy	ORPHA:75389
Epidermodysplasia Verruciformis, Susceptibility To, 3	Epidermal acanthosis	OMIM:618267
Whim Syndrome	Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent pneumonia, Recurrent upper r...	ORPHA:51636
Scalp-Ear-Nipple Syndrome	Sparse axillary hair, Sparse pubic hair, Fine hair, Pyelonephritis, Patchy alopecia, Breast aplas...	OMIM:181270
Den Hoed-De Boer-Voisin Syndrome	Widow's peak, Dry skin, Thick eyebrow	OMIM:619229
Blau Syndrome	Pericarditis, Skin rash, Keratitis, Retrobulbar optic neuritis, Erythema nodosum, Erythema, Irido...	ORPHA:90340
Restrictive Dermopathy 1	Sparse eyelashes, Short nail, Epidermal hyperkeratosis, Absent eyelashes, Sparse eyebrow, Scaling...	OMIM:275210
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Alopecia, Seborrheic dermatitis	OMIM:210210
Trichodermodysplasia-Dental Alterations Syndrome	Sparse scalp hair, Brittle hair, Fine hair, Sparse or absent eyelashes, Palmoplantar keratoderma,...	ORPHA:3353
Hermansky-Pudlak Syndrome 2	Albinism, Recurrent pneumonia, Recurrent bacterial infections, Periodontitis, Recurrent abscess f...	OMIM:608233
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Panniculitis, Dry skin, Eczema	ORPHA:508542
Costello Syndrome	Deep-set nails, Curly hair, Redundant neck skin, Thin nail, Concave nail, Sparse hair, Fragile nails	OMIM:218040
Rodrigues Blindness	Sparse hair, Fine hair	OMIM:268320
Giant Axonal Neuropathy	Woolly hair, Pili canaliculi	ORPHA:643
Primary Sjögren Syndrome	Myositis, Chronic active hepatitis, Glomerulonephritis, Lymphocytic interstitial pneumonia, Eryth...	ORPHA:289390
Pemphigus Erythematosus	Malar rash, Acantholysis	ORPHA:79480
Menkes Disease	Hypopigmentation of hair, Osteomyelitis, Sparse hair, Woolly hair, Dry skin	ORPHA:565
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Epidermal acanthosis, Ecz...	ORPHA:83617
Hajdu-Cheney Syndrome	Abnormal fingernail morphology, Synophrys, Low anterior hairline, Skin ulcer, Coarse hair, Period...	ORPHA:955
Orofaciodigital Syndrome Type 1	Alopecia, Brittle hair, Coarse hair, Sparse hair, Dry skin, Chronic otitis media	ORPHA:2750
Kanzaki Disease	Hyperkeratosis, Dry skin, Petechiae	OMIM:609242
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Highly arched eyebrow, Palmoplantar hyperkeratosis, Fine hair, Hypoplastic nipples, Sparse hair, ...	OMIM:280000
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Uncombable hair, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Abnormal hair morphology	ORPHA:3082
Chondrodysplasia Punctata, Autosomal Dominant	Sparse hair, Hyperkeratosis with erythema, Coarse hair	OMIM:118650
Plague	Chapped lip, Skin rash, Erythema nodosum, Lymphadenitis, Enterocolitis, Skin ulcer, Endocarditis,...	ORPHA:707
Septo-Optic Dysplasia Spectrum	Dry skin	ORPHA:3157
Fucosidosis	Dry skin, Petechiae, Thick eyebrow	OMIM:230000
2Q32Q33 Microdeletion Syndrome	Sparse hair, Fine hair	ORPHA:251019
Congenital Disorder Of Glycosylation, Type Iif	Recurrent bacterial infections	OMIM:603585
Mucopolysaccharidosis, Type Iiib	Synophrys, Coarse hair, Hirsutism	OMIM:252920
Chromomycosis	Keratitis, Recurrent bacterial infections, Keratoconjunctivitis sicca, Pruritus	ORPHA:182
Woodhouse-Sakati Syndrome	Alopecia, Scaling skin, Aplasia/Hypoplasia of the eyebrow	ORPHA:3464
Brachycephaly, Trichomegaly, And Developmental Delay	Brittle hair, Highly arched eyebrow, Synophrys, Long eyelashes, Thick eyebrow	OMIM:617412
Bartsocas-Papas Syndrome 1	Absent eyebrow, Alopecia, Sparse scalp hair, Alopecia totalis, Absent eyelashes, Anonychia, Small...	OMIM:263650
Resistance To Thyrotropin-Releasing Hormone Syndrome	Dry skin	ORPHA:99832
Chédiak-Higashi Syndrome	Recurrent bacterial skin infections, Hypopigmentation of hair, Recurrent respiratory infections, ...	ORPHA:167
Zttk Syndrome	Sparse eyebrow, Curly hair, Broad eyebrow	OMIM:617140
Mucopolysaccharidosis, Type Iiia	Synophrys, Coarse hair, Hirsutism	OMIM:252900
Late-Onset Isolated Acth Deficiency	Dry skin, Hashimoto thyroiditis, Hepatitis	ORPHA:199299
Macrocephaly/Autism Syndrome	Recurrent otitis media, Coarse hair, Cutis laxa	OMIM:605309
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Fine hair	ORPHA:3236
Tonne-Kalscheuer Syndrome	Fine hair, Small nail, Concave nail	OMIM:300978
Cutis Laxa, Autosomal Recessive, Type Iiib	Cutis laxa, Fine hair, Excessive wrinkled skin, Sparse hair, Dermal translucency	OMIM:614438
Transketolase Deficiency	Conjunctivitis, Uveitis, Seborrheic dermatitis	ORPHA:488618
Ablepharon-Macrostomia Syndrome	Absent eyebrow, Redundant skin, Absent eyelashes, Hypoplastic nipples, Sparse hair, Premature ski...	OMIM:200110
Tangier Disease	Dry skin, Nail dystrophy	ORPHA:31150
Mucopolysaccharidosis, Type Iiic	Synophrys, Coarse hair, Hirsutism, Hypertrichosis	OMIM:252930
Focal Facial Dermal Dysplasia Type Iv	Abnormal epidermal morphology	ORPHA:398189
Parkes Weber Syndrome	Scaling skin, Skin ulcer	ORPHA:90307
Yao Syndrome	Inflammatory abnormality of the skin, Pericarditis, Skin rash, Arthritis, Keratoconjunctivitis sicca	OMIM:617321
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Neonatal sepsis, Recurrent respiratory infections, Recurrent urinary tract infections, Perianal a...	OMIM:612541
Chediak-Higashi Syndrome	Recurrent bacterial skin infections, Hypopigmentation of hair, Recurrent systemic pyogenic infect...	OMIM:214500
Hall-Riggs Syndrome	Coarse hair, Slow-growing hair, Thick hair	ORPHA:2107
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Recurrent mycobacterial infections, Bronchiectasis, Recurrent...	ORPHA:244
Monosomy 22	Sparse hair, Synophrys, Seborrheic dermatitis	ORPHA:96123
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Uveitis, Hyperconvex fingernails, Conjunctivitis, Sparse hair, Abnormality of the nail, Absent ey...	ORPHA:2273
Behcet Syndrome	Erythema nodosum, Iridocyclitis, Epididymitis, Arthritis, Patchy alopecia, Iritis	OMIM:109650
Acute Adrenal Insufficiency	Dry skin, Sparse axillary hair	ORPHA:95409
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Synophrys, Glomerulonephritis, Fine hair	OMIM:619428
Trichorhinophalangeal Syndrome, Type I	Slow-growing hair, Thin nail, Concave nail, Osteoarthritis, Leukonychia, Fine hair, Thin eyebrow,...	OMIM:190350
Cockayne Syndrome B	Sparse hair, Dry hair, Dry skin, Abnormal hair morphology	OMIM:133540
Mannosidosis, Alpha B, Lysosomal	Recurrent bacterial infections, Low anterior hairline, Thick eyebrow, Hypertrichosis	OMIM:248500
X-Linked Intellectual Disability, Golabi-Ito-Hall Type	Dry hair, Brittle hair, Nail dystrophy	ORPHA:93947
Xfe Progeroid Syndrome	Dry skin	OMIM:610965
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Sparse hair, Fine hair	OMIM:616817
Jaberi-Elahi Syndrome	Brittle hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair	OMIM:617988
Ogden Syndrome	Cutis laxa, Aplasia/Hypoplasia of the eyebrow, Fine hair	ORPHA:276432
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Redundant neck skin, Thick hair, Redundant skin, Cutis laxa, Excessive wrinkled skin, Coarse hair...	ORPHA:357074
Hemihyperplasia-Multiple Lipomatosis Syndrome	Hyperparakeratosis, Seborrheic dermatitis	ORPHA:276280
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Parakeratosis, Alopecia, Epidermal acanthosis, Erythema, Hyperkeratosis, Small nail, Orthokeratosis	OMIM:308050
Helix Syndrome	Dry skin	OMIM:617671
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Sparse hair, Synophrys, Low anterior hairline, Fine hair	ORPHA:391408
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Dry skin	OMIM:619306
Aicardi-Goutières Syndrome	Myositis, Chilblains, Arthritis, Panniculitis, Dry skin	ORPHA:51
Mirage Syndrome	Recurrent bacterial infections, Recurrent urinary tract infections, Sepsis, Aspiration pneumonia	OMIM:617053
Cockayne Syndrome A	Sparse hair, Dry hair, Dry skin	OMIM:216400
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Cutis laxa, Thick eyebrow, Fine hair	OMIM:614800
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Hyperkeratosis, Sparse hair, Dry ...	OMIM:210710
Addison Disease	Dry skin, Hashimoto thyroiditis, Sparse axillary hair	ORPHA:85138
Fetal Hydantoin Syndrome	Coarse hair, Hypoplastic fingernail, Low posterior hairline	ORPHA:1912
Vici Syndrome	Recurrent respiratory infections, Hypopigmentation of hair, Recurrent viral infections, Albinism,...	OMIM:242840
Vexas Syndrome	Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Chondritis of pinna,...	OMIM:301054
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Sparse eyebrow, Hyperconvex fingernails...	ORPHA:1071
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Woolly hair	OMIM:610193
Trichothiodystrophy 3, Photosensitive	Tiger tail banding, Brittle hair, Trichorrhexis nodosa	OMIM:616395
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Alopecia, Fine hair	ORPHA:228390
Wiedemann-Rautenstrauch Syndrome	Sparse scalp hair, Absent eyebrow, Alopecia, Sparse eyelashes, Pneumonia, Absent eyelashes, Spars...	OMIM:264090
Nicolaides-Baraitser Syndrome	Absent eyebrow, Dry hair, Sparse scalp hair, Eczema, Low anterior hairline, Low posterior hairlin...	OMIM:601358
Isolated Thyroid-Stimulating Hormone Deficiency	Dry skin	ORPHA:90674
Trichorhinophalangeal Syndrome, Type Ii	Sparse scalp hair, Chronic gastritis, Redundant skin in infancy, Recurrent pneumonia, Dry skin, C...	OMIM:150230
Kenny-Caffey Syndrome, Type 1	Recurrent bacterial infections	OMIM:244460
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Sparse eyebrow, Curly hair, Broad lateral eyebrow	ORPHA:500150
Revesz Syndrome	Nail pits, Fine hair, Nail dystrophy, Sparse hair, Ridged fingernail	OMIM:268130
Lipodystrophy, Familial Partial, Type 7	Sparse scalp hair, Facial wrinkling, Recurrent pancreatitis, Sparse hair, Dry skin	OMIM:606721
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Synophrys, Long eyelashes, Fine hair	OMIM:620250
Mucopolysaccharidosis-Plus Syndrome	Synophrys, Recurrent pneumonia, Low anterior hairline, Low posterior hairline, Coarse hair, Long ...	OMIM:617303
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Eczema, Thick eyebrow, Seborrheic dermatitis	ORPHA:369950
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Fine hair, Premature graying of hair, Nail dystrophy, Nail dysplasia, Sparse hair, Dermal translu...	OMIM:612199
Gorlin-Chaudhry-Moss Syndrome	Coarse hair, Low anterior hairline, Generalized hirsutism	ORPHA:2095
Noonan Syndrome 1	Woolly hair, Dry skin, Synovitis, Low posterior hairline	OMIM:163950
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Curly hair, Hypoplastic nipples, Hypertrichosis	ORPHA:480880
Shwachman-Diamond Syndrome	Sinusitis, Skin rash, Pneumonia, Eczema, Osteomyelitis, Recurrent viral infections, Sepsis, Recur...	ORPHA:811
Spinocerebellar Ataxia-Dysmorphism Syndrome	Coarse hair	ORPHA:1185
Intellectual Disability, Buenos-Aires Type	Abnormal fingernail morphology, Hyperconvex thumb nails, Fine hair	ORPHA:3079
Alzahrani-Kuwahara Syndrome	Dry skin, Eczema	OMIM:619268
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Sparse eyebrow, Brittle hair	OMIM:618810
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Brittle hair, Pancreatitis	OMIM:236200
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Recurrent bacterial infections	OMIM:241410
Cerebrofaciothoracic Dysplasia	Abnormal hair pattern, Synophrys, Low posterior hairline, Coarse hair, Thick eyebrow	ORPHA:1394
Cystic Fibrosis	Recurrent Aspergillus infections, Recurrent respiratory infections, Sinusitis, Recurrent Burkhold...	ORPHA:586
Chime Syndrome	Erythema, Skin ulcer, Fine hair, Hyperkeratosis, Sparse hair	ORPHA:3474
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Fine hair	ORPHA:363686
Cartilage-Hair Hypoplasia	Sparse eyelashes, Sparse facial hair, Sparse eyebrow, Fine hair, Sparse hair, Fair hair	OMIM:250250
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Sparse hair, Aplasia/Hypoplasia of the eyebrow, Nail dysplasia, Fine hair	OMIM:614091
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Aspiration pneumonia, Seborrheic dermatitis	OMIM:301072
Hereditary Sensory And Autonomic Neuropathy Type 4	Fasciitis, Osteomyelitis, Aplasia of the sweat glands, Septic arthritis, Dry skin, Recurrent aspi...	ORPHA:642
Glycogen Storage Disease Ib	Recurrent bacterial infections, Inflammation of the large intestine, Pancreatitis, Gout	OMIM:232220
S-Adenosylhomocysteine Hydrolase Deficiency	Abnormality of hair texture	ORPHA:88618
Hallermann-Streiff Syndrome	Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Uveitis, Sparse hair, Sp...	ORPHA:2108
Frontonasal Dysplasia 2	Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Fine hair, Sparse hair	OMIM:613451
Galloway-Mowat Syndrome 9	Coarse hair	OMIM:619603
Orofaciodigital Syndrome Type 3	Abnormality of hair texture	ORPHA:2752
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Necrotizing enterocolitis, Recurrent viral infections, Sepsis, Persistent EBV...	OMIM:619573
Mandibuloacral Dysplasia With Type B Lipodystrophy	Sparse hair, Alopecia, Brittle hair	OMIM:608612
Weaver Syndrome	Deep-set nails, Thin nail, Cutis laxa, Fine hair, Sparse hair	OMIM:277590
Trisomy 20P	Thick hair, Highly arched eyebrow, Low anterior hairline, Low posterior hairline, Coarse hair, Th...	ORPHA:261318
Infantile Systemic Hyalinosis	Recurrent bacterial infections	ORPHA:2176
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Small nail, Seborrheic dermatitis	OMIM:300868
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Esophagitis, Abnormality of hair texture	ORPHA:79351
Acrofacial Dysostosis, Catania Type	Coarse hair, Abnormal hair pattern	ORPHA:1786
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Recurrent Aspergillus infections, Inflammatory abnormality of the skin, Recurrent herpes, Eczema,...	ORPHA:391487
Argininosuccinic Aciduria	Dry hair, Brittle hair, Trichorrhexis nodosa	OMIM:207900
Mucopolysaccharidosis, Type Iiid	Synophrys, Hirsutism, Coarse hair, Facial hirsutism, Recurrent otitis media, Thick eyebrow	OMIM:252940
Multiple Sulfatase Deficiency	Coarse hair, Thick eyebrow	ORPHA:585
Hypothyroidism, Congenital, Nongoitrous, 2	Dry skin	OMIM:218700
Craniolenticulosutural Dysplasia	Sparse hair, Coarse hair, Brittle hair	ORPHA:50814
22Q11.2 Deletion Syndrome	Chronic otitis media, Arthritis, Acne, Seborrheic dermatitis	ORPHA:567
Schimke Immunoosseous Dysplasia	Coarse hair, Fine hair	OMIM:242900
Diamond-Blackfan Anemia 21	Synophrys, Coarse hair, Horizontal eyebrow, Widow's peak	OMIM:620072
Oculodentodigital Dysplasia, Autosomal Recessive	Sparse hair, Sparse eyelashes, Fine hair	OMIM:257850
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Enterocolitis, Ulcerative colitis, Gout, Thyroiditis, Recurrent bacterial infections, Inflammatio...	ORPHA:79259
Autosomal Recessive Malignant Osteopetrosis	Chronic rhinitis, Pallor, Otitis media, Abnormality of hair texture	ORPHA:667
Lysinuric Protein Intolerance	Sparse hair, Pancreatitis, Cutis laxa, Fine hair	OMIM:222700
Opitz-Kaveggia Syndrome	Sparse hair, Frontal upsweep of hair, Facial wrinkling, Fine hair	OMIM:305450
2P15P16.1 Microdeletion Syndrome	Sparse eyebrow, Long eyelashes, Supernumerary nipple, Fine hair	ORPHA:261349
Mucopolysaccharidosis, Type Vii	Recurrent otitis media, Coarse hair, Thick eyebrow, Hirsutism	OMIM:253220
Thrombocytopenia-Absent Radius Syndrome	Seborrheic dermatitis	OMIM:274000
Oculodentodigital Dysplasia	Dry hair, Slow-growing hair, Uveitis, Fine hair, Sparse hair, Fragile nails	OMIM:164200
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	White hair, Fine hair	ORPHA:935
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Alopecia, Abnormal fingernail morphology, Erythema, Skin ulcer, Palmoplantar keratoderma, Sparse ...	ORPHA:659
Digeorge Syndrome	Acne, Seborrheic dermatitis, Recurrent pneumonia, Recurrent infections, Recurrent sinusitis, Recu...	OMIM:188400
Pseudoxanthoma Elasticum	Civatte bodies, Cutis laxa	OMIM:264800
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Coarse hair, Nail dysplasia	OMIM:612394
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Sparse hair, Fine hair	ORPHA:251028
Exercise-Induced Malignant Hyperthermia	Dry skin	ORPHA:466650
Autosomal Recessive Faciodigitogenital Syndrome	Dry hair, Coarse hair, Hypopigmentation of hair, Widow's peak	ORPHA:1974
Immunodeficiency 47	Recurrent bacterial infections, Recurrent infections	OMIM:300972
Atrial Septal Defect, Coronary Sinus Type	Recurrent bacterial infections, Pneumonia	ORPHA:99104
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Abnormality of hair texture, Synophrys, Hypoplastic sweat glands, Orthokeratotic hyperkeratosis, ...	ORPHA:73223
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Dry hair, Low anterior hairline	OMIM:618569
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Sparse hair, Brittle hair, Fine hair	OMIM:618891
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Brittle hair	OMIM:619184
Sickle Cell Disease	Recurrent bacterial infections	OMIM:603903
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Erythema, Fine hair, Onycholysis, Nail dystr...	OMIM:614748
Genitopatellar Syndrome	Sparse scalp hair, Fine hair	ORPHA:85201
Fontaine Progeroid Syndrome	Sparse scalp hair, Dermal translucency, Absent nipple, Redundant skin, Synophrys, Low anterior ha...	OMIM:612289
Mucopolysaccharidosis Type 3	Thick hair, Synophrys, Coarse hair, Otitis media, Aspiration pneumonia, Chronic otitis media, Gen...	ORPHA:581
Craniolenticulosutural Dysplasia	Sparse hair, Coarse hair, Brittle hair	OMIM:607812
Primary Sclerosing Cholangitis	Recurrent systemic pyogenic infections, Pruritus, Thyroiditis, Ulcerative colitis, Hepatitis, Uve...	ORPHA:171
Ogden Syndrome	Redundant neck skin, Redundant skin, Facial wrinkling, Eczema, Sparse eyebrow, Fine hair, Cutis l...	OMIM:300855
Marshall-Smith Syndrome	Brittle hair, Highly arched eyebrow, Synophrys, Aspiration pneumonia, Sparse hair, Recurrent aspi...	OMIM:602535
Cerebellofaciodental Syndrome	Sparse eyebrow, Fine hair	OMIM:616202
Lateral Meningocele Syndrome	Coarse hair	OMIM:130720
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Brittle hair	OMIM:616084
Mucolipidosis Type Ii	Dry hair, White hair, Otitis media, Fine hair	ORPHA:576
Cerebellar-Facial-Dental Syndrome	Sparse hair, Sparse eyebrow, Fine hair	ORPHA:444072
Atrial Septal Defect, Ostium Secundum Type	Recurrent bacterial infections, Pneumonia	ORPHA:99103
Occipital Horn Syndrome	Coarse hair, Pili torti, Redundant skin	OMIM:304150
Adrenomyeloneuropathy	Frontal balding, Fine hair	ORPHA:139399
Lysinuric Protein Intolerance	Glomerulonephritis, Tubulointerstitial nephritis, Recurrent bacterial infections, Membranous neph...	ORPHA:470
Mucolipidosis Ii Alpha/Beta	Brittle hair, Sparse eyebrow, Recurrent pneumonia, Sparse hair, Recurrent otitis media	OMIM:252500
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Sparse hair, Fine hair, Highly arched eyebrow, Low posterior hairline	OMIM:613563
Cranioectodermal Dysplasia 1	Slow-growing hair, Short nail, Thin nail, Fine hair, Tubulointerstitial nephritis, Sparse hair	OMIM:218330
Cockayne Syndrome	Dry hair, Fine hair, Keratoconjunctivitis sicca, Premature skin wrinkling, Malar rash	ORPHA:191
Distal Deletion 12Q	Late onset atopic dermatitis, Small nail, Fine hair	ORPHA:96149
Oculocerebrorenal Syndrome Of Lowe	Sparse scalp hair, Cheilitis, Skin ulcer, Fine hair, Arthritis, Periodontitis, Chronic otitis media	ORPHA:534
Woodhouse-Sakati Syndrome	Sparse hair, Alopecia, Fine hair	OMIM:241080
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Dry skin, Recurrent pneumonia	ORPHA:99646
Orofaciodigital Syndrome I	Sparse hair, Alopecia, Dry hair	OMIM:311200
Noonan Syndrome	Abnormal hair quantity, Coarse hair, Low posterior hairline	ORPHA:648
Liver Disease, Severe Congenital	Chronic gastritis, Dry hair, Eczema, Pneumonia, Peritonitis, Nail dystrophy, Recurrent otitis med...	OMIM:619991
Melnick-Needles Syndrome	Recurrent otitis media, Coarse hair, Frontal hirsutism	OMIM:309350
Coffin-Lowry Syndrome	Highly arched eyebrow, Cutis laxa, Hyperconvex fingernails, Coarse hair, Thick eyebrow	OMIM:303600
Cockayne Syndrome Type 3	Premature graying of hair, Keratoconjunctivitis sicca, Dry hair	ORPHA:90324
Occipital Horn Syndrome	Coarse hair, Hepatitis, Thick hair, Esophagitis	ORPHA:198
Myhre Syndrome	Sparse hair, Thick eyebrow, Fine hair	OMIM:139210
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Tubulointerstitial nephritis, Brittle hair, Cholangitis	OMIM:124000
Coffin-Siris Syndrome 1	Sparse scalp hair, Dry hair, Hypoplastic fifth fingernail, Lumbosacral hirsutism, Long eyelashes,...	OMIM:135900
Focal Dermal Hypoplasia	Ridged nail, Brittle hair, Supernumerary nipple, Patchy alopecia, Nail dystrophy, Hypoplastic nip...	OMIM:305600
Vascular Ehlers-Danlos Syndrome	Alopecia, Redundant skin, Abnormality of hair texture, Abnormal eyelash morphology, Osteoarthriti...	ORPHA:286
Witteveen-Kolk Syndrome	Medial flaring of the eyebrow, Hyperconvex nail, Eczema, Fine hair, High anterior hairline, Fragi...	OMIM:613406
Renpenning Syndrome 1	Sparse hair, Brittle hair, Sparse lateral eyebrow	OMIM:309500
Neuroocular Syndrome	Brittle hair, Highly arched eyebrow, Synophrys, Long eyelashes, Small nail, Distichiasis, Thick e...	OMIM:619539
Alström Syndrome	Glomerulonephritis, Frontal balding, Recurrent pneumonia, Hepatitis, Fine hair, Otitis media, Rec...	ORPHA:64

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Trpv3

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Trpv3.

No publications found that use IMPC mice or data for Trpv3.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Trpv3^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Trpv3^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Trpv3^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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