Gene: Dsg4 MGI:2661061

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

desmoglein 4

Synonyms:

CDHF13, lah

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 Dsg4 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 Dsg4 (3 diseases)
Human diseases predicted to be associated with Dsg4 (1408 diseases)

The table below shows human diseases associated to Dsg4 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Hypotrichosis Simplex	Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse hair, Sparse scalp hair	ORPHA:55654
Hypotrichosis 6	Erythema, Sparse eyebrow, Sparse eyelashes, Pili torti, Brittle hair, Sparse hair	OMIM:607903
Monilethrix	Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Slow-growing hair, Brittle hair, Abnorma...	ORPHA:573

The table below shows human diseases predicted to be associated to Dsg4 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hypotrichosis 1	Sparse pubic hair, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axillary hair, Spar...	OMIM:605389
Hypotrichosis 15	Sparse scalp hair	OMIM:620177
Hypotrichosis Simplex	Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse hair, Sparse scalp hair	ORPHA:55654
Hypotrichosis 11	Alopecia universalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Absent axill...	OMIM:615059
Atrichia With Papular Lesions	Sparse hair	OMIM:209500
Hypotrichosis 10	Sparse eyebrow, Sparse body hair, Sparse eyelashes, Abnormality of the nail, Sparse scalp hair	OMIM:614238
Keratosis Palmoplantaris Striata Ii	Abnormal hair morphology, Epidermal acanthosis, Palmoplantar keratoderma, Abnormality of the nail	OMIM:612908
Hypotrichosis 2	Abnormality of the nail, Sparse scalp hair	OMIM:146520
Hypotrichosis 4	Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair	OMIM:146550
Leukomelanoderma, Infantilism, Impaired Intellectual Development, Hypodontia, Hypotrichosis	Sparse hair	OMIM:246500
Erythrokeratodermia Variabilis Et Progressiva 5	Abnormal hair morphology, Palmoplantar hyperkeratosis, Hyperkeratosis, Onychogryposis	OMIM:617756
Graham Little-Piccardi-Lassueur Syndrome	Alopecia, Sparse pubic hair, Sparse scalp hair, Sparse axillary hair, Pruritus, Perifollicular hy...	ORPHA:505
Ichthyosis-Hypotrichosis Syndrome	Sparse hair	ORPHA:91132
Trichodysplasia-Xeroderma Syndrome	Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Dry skin, Trichody...	ORPHA:3361
Hypotrichosis Simplex Of The Scalp	Allergic rhinitis, Atopic dermatitis, Sparse scalp hair, Fine hair, Alopecia of scalp, Parakerato...	ORPHA:90368
Ectodermal Dysplasia 6, Hair/Nail Type	Alopecia, Sparse hair, Thin toenail, Dystrophic toenail	OMIM:614928
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Sparse body hair, Abnormal fingernail morphol...	ORPHA:2722
Bathing Suit Ichthyosis	Thickened skin, Alopecia, Nail dystrophy, Ichthyosis, Parakeratosis, Hypohidrosis, Palmoplantar h...	ORPHA:100976
Insulin-Resistance Syndrome Type A	Generalized hirsutism, Hyperkeratosis	ORPHA:2297
Hypotrichosis 6	Erythema, Sparse eyebrow, Sparse eyelashes, Pili torti, Brittle hair, Sparse hair	OMIM:607903
Woolly Hair, Autosomal Recessive 3	Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Curly hair, Sparse hair, Sparse scalp hair	OMIM:616760
Hair Defect With Photosensitivity And Impaired Intellectual Development	Sparse eyebrow, Coarse hair, Sparse eyelashes, Brittle hair, Sparse hair, Cutaneous photosensitivity	OMIM:234030
Erosive Pustular Dermatosis Of The Scalp	Abnormal hair morphology, Erythema, Scarring alopecia of scalp	ORPHA:222
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Sparse eyebrow, Congenital alopecia totalis, Generalized hyperkeratosis, Dry skin, Alopecia of sc...	ORPHA:2269
Anonychia With Flexural Pigmentation	Abnormal hair morphology, Alopecia of scalp, Follicular hyperkeratosis, Anonychia, Hyperkeratosis	ORPHA:69125
Uncombable Hair Syndrome 3	Pili canaliculi, Brittle hair, Uncombable hair, Curly hair	OMIM:617252
Keratoderma Hereditarium Mutilans With Ichthyosis	Alopecia, Orthokeratosis, Palmoplantar keratoderma, Honeycomb palmoplantar hyperkeratosis, Hyperg...	ORPHA:79395
Ichthyosis With Erythrokeratoderma	Erythema, Palmoplantar keratoderma, Congenital ichthyosiform erythroderma, Leukonychia, Diffuse p...	OMIM:620507
Peeling Skin Syndrome 3	Abnormal hair morphology, Erythema, White scaling skin	OMIM:616265
Alopecia Universalis Congenita	Alopecia universalis, Absent eyelashes, Absent eyebrow, Absent pubic hair, Absent axillary hair	OMIM:203655
Hidrotic Ectodermal Dysplasia	Thickened skin, Small nail, Sparse eyelashes, Absent eyebrow, Absent axillary hair, Sparse hair, ...	ORPHA:189
Ectodermal Dysplasia/Skin Fragility Syndrome	Alopecia of scalp, Nail dystrophy, Absent eyelashes, Dystrophic fingernails, Absent eyebrow, Palm...	OMIM:604536
Ichthyosis, Congenital, Autosomal Recessive 1	Alopecia, Congenital ichthyosiform erythroderma, Nail dystrophy, Ichthyosis, Nail dysplasia, Para...	OMIM:242300
Quinquaud Folliculitis Decalvans	Abnormal hair morphology, Erythema, Patchy alopecia, Scarring alopecia of scalp	ORPHA:346
Alopecia Areata 2	Alopecia universalis, Patchy alopecia, Alopecia of scalp, Alopecia totalis	OMIM:610753
Woolly Hair	Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality...	ORPHA:170
Ichthyosis, Annular Epidermolytic, 1	Erythema, Orthokeratosis, Hyperparakeratosis, Abnormal hair morphology, Ichthyosis, Palmoplantar ...	OMIM:607602
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails, Alopecia of scalp, Di...	OMIM:617294
Trichothiodystrophy 7, Nonphotosensitive	Tiger tail banding, Cutaneous photosensitivity, Brittle hair	OMIM:618546
Alopecia, Familial Focal	Patchy alopecia	OMIM:104110
Pili Torti	Alopecia, Abnormal eyebrow morphology, Pili torti, Brittle hair, Abnormality of hair texture, Abn...	ORPHA:2889
Kerion Celsi	Alopecia, Inflammatory abnormality of the skin, Recurrent skin infections, Recurrent cutaneous ab...	ORPHA:499
Ringed Hair Disease	Abnormal hair pattern, Fine hair	ORPHA:169
Hypertrichosis Lanuginosa Congenita	Congenital, generalized hypertrichosis, Double eyebrow	OMIM:145700
Monilethrix	Alopecia, Nail dystrophy, Nail dysplasia, Brittle hair, Abnormality of hair texture, Sparse hair	OMIM:158000
Alopecia-Intellectual Disability Syndrome 2	Alopecia universalis	OMIM:610422
Alopecia-Intellectual Disability Syndrome 3	Alopecia universalis	OMIM:613930
Pili Bifurcati	Abnormal hair morphology, Abnormality of hair texture	ORPHA:720
Osteopenia And Sparse Hair	Sparse hair	OMIM:259690
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Plantar hyperkeratosis, Alopecia, Pruritus, Nail dystrophy	OMIM:616487
Alopecia-Intellectual Disability Syndrome 1	Alopecia universalis, Alopecia	OMIM:203650
Ectodermal Dysplasia 4, Hair/Nail Type	Abnormal sweat gland morphology, Alopecia, Hair-nail ectodermal dysplasia, Sparse body hair, Cong...	OMIM:602032
Ichthyosis, Hystrix-Like, With Deafness	Sparse eyebrow, Palmoplantar keratoderma, Cobblestone-like hyperkeratosis, Ichthyosis, Sparse eye...	OMIM:602540
Candidiasis, Familial, 1	Alopecia, Chronic mucocutaneous candidiasis	OMIM:114580
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Parana Hard Skin Syndrome	Generalized hirsutism, Thickened skin, Hyperkeratosis	ORPHA:2812
Erythrokeratodermia Variabilis Et Progressiva 2	Erythema, Hypertrichosis	OMIM:617524
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Perifolliculitis, Alopecia, Alopecia of scalp	OMIM:260910
Bazex Syndrome	Yellow nails, Palmoplantar keratoderma, Lip hyperpigmentation, Liposarcoma, Nail dystrophy, Parak...	ORPHA:166113
Netherton Syndrome	Allergic rhinitis, Decreased circulating IgG level, Brittle scalp hair, Sparse eyebrow, Eczematoi...	OMIM:256500
Angioma Serpiginosum, X-Linked	Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair	OMIM:300652
Ichthyosis With Confetti	Hypertrichosis, Ichthyosis, Hypoplastic nipples, Palmoplantar hyperkeratosis, Erythroderma, Scali...	OMIM:609165
Olmsted Syndrome 2	Alopecia universalis, Cheilitis, Palmoplantar keratoderma, Perioral hyperkeratosis, Flexion contr...	OMIM:619208
Palmoplantar Keratoderma And Congenital Alopecia 2	Alopecia totalis, Dry skin, Nail dystrophy, Nail dysplasia, Facial erythema, Palmoplantar hyperke...	OMIM:212360
Ichthyosis Hystrix Of Curth-Macklin	Nail dystrophy, Ichthyosis, Diffuse palmoplantar hyperkeratosis, Recurrent skin infections, Hyper...	ORPHA:79503
Alopecia Areata 1	Alopecia universalis, Alopecia totalis, Patchy alopecia, Trachyonychia, Nail pits	OMIM:104000
Monilethrix	Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Slow-growing hair, Brittle hair, Abnorma...	ORPHA:573
Crandall Syndrome	Alopecia, Fine hair, Sparse body hair, Brittle hair, Pili torti, Aplasia/Hypoplasia of the eyebrow	ORPHA:202
Ectodermal Dysplasia 7, Hair/Nail Type	Abnormal sweat gland morphology, Alopecia, Sparse eyebrow, Hair-nail ectodermal dysplasia, Dystro...	OMIM:614929
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Hyperkeratotic papule, Alopecia, Mottled pigmentation, Hypermelanotic macule, Nail dystrophy, Hyp...	ORPHA:79397
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Sparse eyebrow, Leukonychia, Nail dysplasia, Palmoplantar erythema, Brittle hair, Spars...	OMIM:104100
Dissecting Cellulitis Of The Scalp	Abnormal hair morphology, Pruritus, Recurrent skin infections	ORPHA:345
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Woolly hair, Palmoplantar keratoderma	OMIM:610476
Uncombable Hair Syndrome 2	Pili canaliculi, Uncombable hair	OMIM:617251
Hypertrichosis, Anterior Cervical	Anterior cervical hypertrichosis	OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type	Congenital, generalized hypertrichosis	OMIM:145701
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type	Sparse pubic hair, Abnormal hair morphology, Onychogryposis of toenails, Nail dystrophy, Sparse e...	ORPHA:1808
Krt1-Related Diffuse Nonepidermolytic Keratoderma	Erythema, Atopic dermatitis, Dry skin, Palmoplantar scaling skin, Diffuse palmoplantar hyperkerat...	ORPHA:530838
Hypotrichosis 7	Abnormal sweat gland morphology, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axill...	OMIM:604379
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Erythema, Palmoplantar keratoderma, Leukonychia, Nail dystrophy, Ichthyosis, Parakeratosis, Pruri...	OMIM:615821
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Hypopigmentation of the skin, Dystrophic toenail, Failure to thrive, Abnormal fingernail morpholo...	ORPHA:89838
Congenital Ichthyosiform Erythroderma	Alopecia, Palmoplantar keratoderma, Keratitis, Ichthyosis, Hypohidrosis, Erythroderma, Pruritus, ...	ORPHA:79394
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome	Abnormality of hair texture, Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the ey...	ORPHA:2891
Olmsted Syndrome 1	Alopecia universalis, Subungual hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis, Hyperpa...	OMIM:614594
Ichthyosis Prematurity Syndrome	Allergic rhinitis, Alopecia of scalp, Follicular hyperkeratosis, Generalized ichthyosis, Erythrod...	OMIM:608649
Erythrokeratodermia Variabilis Et Progressiva 6	Abnormal hair morphology, Parakeratosis, Pruritus, Superficial dermal perivascular inflammatory i...	OMIM:618531
Trichodental Dysplasia	Sparse hair, Slow-growing hair, Fine hair, Brittle hair	OMIM:601453
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Reduced terminal:vellus ratio, Pili torti, Sparse hair, Abnormality of the nail, Sparse scalp hair	OMIM:601553
Peeling Skin Syndrome 4	Orthokeratosis, Palmoplantar keratoderma, Nail dystrophy, Ichthyosis, Scaling skin, Epidermal aca...	OMIM:607936
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Spotty hyperpigmentation, Pruritus, Nail dystrophy, Mixed hypo- and hyperpigmentation of the skin...	ORPHA:79399
Acrokeratoderma, Hereditary Papulotranslucent	Fine hair	OMIM:101840
Lipoid Proteinosis Of Urbach And Wiethe	Reduced epidermal extracellular matrix protein 1 protein expression, Thickened skin, Patchy alope...	OMIM:247100
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Posterior blepharitis, Palmoplantar keratoderma, Alopecia totalis, Para...	OMIM:300918
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level, Atrophic scars, Nail dystrophy, Abnormal toenail morphology, Sca...	ORPHA:89843
Keratosis, Focal Palmoplantar And Gingival	Gingival hyperkeratosis, Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkerat...	OMIM:148730
Peeling Skin Syndrome 1	Nail dystrophy, Onycholysis, Palmoplantar hyperhidrosis, Erythroderma, Scaling skin, Brittle hair...	OMIM:270300
Pili Torti-Onychodysplasia Syndrome	Alopecia universalis, Alopecia, Palmoplantar keratoderma, Eczematoid dermatitis, Sparse body hair...	ORPHA:2890
Ectodermal Dysplasia 13, Hair/Tooth Type	Thin eyebrow, Sparse eyelashes, Low anterior hairline, Ectodermal dysplasia, Brittle hair	OMIM:617392
Netherton Syndrome	Sparse eyebrow, Irregular hyperpigmentation, Eczematoid dermatitis, Fine hair, Abnormal hair morp...	ORPHA:634
L-Ferritin Deficiency	Alopecia	OMIM:615604
Classic Mycosis Fungoides	Erythema, Alopecia, Irregular hyperpigmentation, Hypopigmented skin patches, Skin ulcer, Eczemato...	ORPHA:2584
Erythrokeratodermia Variabilis	Erythema, Alopecia, Irregular hyperpigmentation, Abnormal hair morphology, Dry skin, Patchy palmo...	ORPHA:317
Aredyld	Generalized hypotrichosis	OMIM:207780
Pili Torti, Early-Onset	Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Co...	OMIM:261900
Clouston Syndrome	Alopecia, Sparse eyebrow, Small nail, Fine hair, Alopecia totalis, Nail dystrophy, Sparse eyelash...	OMIM:129500
Moynahan Syndrome	Alopecia, Sparse hair, Hyperkeratosis	ORPHA:2574
Hypertrichosis, Congenital Generalized, 2	Hirsutism, Congenital, generalized hypertrichosis	OMIM:307150
Lamellar Ichthyosis	Dry skin, Ichthyosis, Lack of skin elasticity, Erythroderma, Aplasia/Hypoplasia of the eyebrow, P...	ORPHA:313
Björnstad Syndrome	Alopecia, Brittle hair	ORPHA:123
Parc Syndrome	Absent eyelashes, Alopecia, Absent eyebrow	OMIM:600331
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma	Honeycomb palmoplantar hyperkeratosis, Nail dystrophy, Ichthyosis, Linear arrays of macular hyper...	OMIM:601952
Idiopathic Localized Lipodystrophy	Erythema, Hypopigmentation of the skin, Inflammatory abnormality of the skin, Absence of subcutan...	ORPHA:90158
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses	Sparse eyebrow, Absent eyebrow, Sparse scalp hair, Sparse eyelashes	OMIM:620199
Ichthyosis, Congenital, Autosomal Recessive 11	Sparse eyebrow, Blepharitis, Congenital ichthyosiform erythroderma, Sparse body hair, Curly eyela...	OMIM:602400
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Palmoplantar keratoderma, Eczematoid dermatitis, Sparse body hair, Dry skin, Sparse eyelashes, Hy...	OMIM:618535
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	Ridged nail, Nail pits, Congenital alopecia totalis	ORPHA:169095
Rothmund-Thomson Syndrome, Type 1	Recurrent otitis media, Nail dystrophy, Absent eyelashes, Absent eyebrow, Thin nail, Sparse hair,...	OMIM:618625
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Decreased circulating IgG level, Inflammation of the large intestine, Eczematoid dermatitis, Chro...	ORPHA:98813
Schopf-Schulz-Passarge Syndrome	Palmoplantar keratoderma, Small nail, Poroma, Sparse body hair, Apocrine hidrocystoma, Dry skin, ...	OMIM:224750
Epidermolysis Bullosa Dystrophica, Pretibial	Pruritus, Hyperkeratosis, Nail dystrophy	OMIM:131850
Sabinas Brittle Hair Syndrome	Dry hair, Nail dystrophy, Nail dysplasia, Brittle hair, Sparse hair	OMIM:211390
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears	Woolly hair, Sparse hair	OMIM:278200
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Alopecia, Sparse eyebrow, Orthokeratosis, Pruritus, Dry skin, Ichthyosis, Splenomegaly, Sparse ey...	OMIM:607626
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Fine hair, Abnormal fingernail morphology, Abnormal hair morphology, Dry skin, Abnormal...	ORPHA:248
Carvajal Syndrome	Patchy palmoplantar hyperkeratosis, Woolly hair	ORPHA:65282
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Alopecia totalis	ORPHA:1014
Sézary Syndrome	Alopecia, Irregular hyperpigmentation, Palmoplantar keratoderma, Dry skin, Nail dystrophy, Spleno...	ORPHA:3162
Vibratory Urticaria	Facial erythema, Dermatographic urticaria, Flushing, Urticaria	OMIM:125630
Congenital Smooth Muscle Hamartoma, With Or Without Hemihypertrophy	Hypertrichosis	OMIM:620470
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Alopecia universalis, Periodontitis, Sparse body hair, Abnormal eyelash morphology, Sparse scalp ...	ORPHA:1008
Thumb Deformity And Alopecia	Alopecia	OMIM:188150
Ulerythema Ophryogenesis	Hyperkeratotic papule, Sparse lateral eyebrow, Dry skin, Facial erythema, Follicular hyperkeratos...	ORPHA:3406
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Dry skin, Leukonychia, Angular cheilitis, Onycholysis, Epidermal acanthosis, Follicular hyperkera...	OMIM:616295
Ectodermal Dysplasia 5, Hair/Nail Type	Dystrophic fingernails, Absent toenail, Sparse scalp hair	OMIM:614927
Palmoplantar Keratoderma And Woolly Hair	Sparse eyebrow, Palmoplantar keratoderma, Sparse body hair, Leukonychia, Sparse eyelashes, Woolly...	OMIM:616099
Bjornstad Syndrome	Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Al...	OMIM:262000
Psoriasis 14, Pustular	Erythema, Psoriasiform dermatitis, Nail dystrophy, Pustule, Parakeratosis, Oligoarthritis, Cholan...	OMIM:614204
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Palmoplantar scaling skin, Nail dystrophy, Sp...	OMIM:605676
Cole Disease	Hyperkeratotic papule, Palmoplantar keratoderma, Orthokeratosis, Hypergranulosis, Abnormal hair m...	OMIM:615522
Tooth Agenesis, Selective, 8	Sparse eyebrow, Sparse hair	OMIM:617073
Woolly Hair-Skin Fragility Syndrome	Acantholysis, Woolly hair, Palmoplantar keratoderma	OMIM:620415
Ichthyosis, Congenital, Autosomal Recessive 2	Erythema, Alopecia, Palmoplantar keratoderma, Small nail, Congenital ichthyosiform erythroderma, ...	OMIM:242100
Naxos Disease	Palmoplantar keratoderma, Acanthosis nigricans, Hyperhidrosis, Curly hair, Abnormality of hair te...	ORPHA:34217
Familial Reactive Perforating Collagenosis	Hyperkeratotic papule, Abnormal epidermal morphology, Inflammatory abnormality of the skin, Spott...	ORPHA:79147
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Yellow nails, Palmoplantar keratoderma, Hypergranulosis, Nail dystrophy, Orthokeratotic hyperkera...	OMIM:148700
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Orthokeratosis, Palmoplantar keratoderma, Failure to thrive, Hypergranulosis, Increased circulati...	OMIM:615508
Pityriasis Rubra Pilaris	Thickened skin, Subungual hyperkeratosis, Palmoplantar keratoderma, Eczematoid dermatitis, Ichthy...	ORPHA:2897
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Onychogryposis of fingernail, Alopecia, Ridged fingernail, Palmoplantar keratoderma, Fingernail d...	ORPHA:2251
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Cellulitis, Alopecia universalis, Decreased specific anti-polysaccharide antibody level, Eczemato...	OMIM:606367
Centrifugal Lipodystrophy	Erythema, Alopecia, Inflammatory abnormality of the skin, Lymphadenitis, Absence of subcutaneous ...	ORPHA:90156
Ectodermal Dysplasia-Syndactyly Syndrome 2	Palmoplantar keratoderma, Follicular hyperkeratosis, Hyperhidrosis, Sparse hair, Congenital bullo...	OMIM:613576
Vohwinkel Syndrome, Variant Form	Orthokeratosis, Honeycomb palmoplantar hyperkeratosis, Hypergranulosis, Abnormal hair morphology,...	OMIM:604117
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Sparse eyebrow, Fine hair, Dry skin, Ridged nail, Sparse eyelashes, Hypohidrosis, Slow-growing ha...	OMIM:129490
Hypotrichosis With Juvenile Macular Degeneration	Sparse scalp hair, Pili torti, Fine hair, Brittle hair	ORPHA:1573
Kondoh Syndrome	Sparse hair, Atopic dermatitis, Thick eyebrow, Widow's peak	OMIM:606242
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Spotty hyperpigmentation, Erythema migrans, Parakeratosis, Generalized reticulate brown pigmentat...	ORPHA:158681
Hypotrichosis 14	Sparse pubic hair, Sparse body hair, Absent axillary hair, Sparse hair, Short eyelashes	OMIM:618275
Pruritic Urticarial Papules And Plaques Of Pregnancy	Pruritus on foot, Eczematoid dermatitis, Pruritis on breast, Striae distensae, Increased body wei...	ORPHA:64745
Uncombable Hair Syndrome	Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Palmoplantar Keratoderma, Epidermolytic, 2	Palmoplantar hyperkeratosis, Curly hair	OMIM:620411
Vulvovaginal Gingival Syndrome	Erythema, Abnormality of tumor necrosis factor secretion, Ridged nail, Parakeratosis, Epidermal a...	ORPHA:83453
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Atopic dermatitis, Alopecia, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous abscess, Chron...	OMIM:618282
Ectodermal Dysplasia-Syndactyly Syndrome 1	Alopecia, Coarse hair, Small nail, Hypoplastic toenails, Sparse eyelashes, Patchy alopecia, Pili ...	OMIM:613573
Trichothiodystrophy 1, Photosensitive	Small nail, Dry skin, Telangiectasia, Erythroderma, Brittle hair, Sparse hair, Cutaneous photosen...	OMIM:601675
Bullous Dystrophy, Hereditary Macular Type	Alopecia totalis, Abnormality of the nail	OMIM:302000
Hypotrichosis And Recurrent Skin Vesicles	Sparse eyebrow, Sparse body hair, Leukonychia, Sparse eyelashes, Sparse axillary hair, Skin vesic...	OMIM:613102
Ichthyosis, Congenital, Autosomal Recessive 14	Erythema, Orthokeratotic hyperkeratosis, Scaling skin, Pruritus, Hyperkeratosis, Congenital nonbu...	OMIM:617571
Progeroid Syndrome, Petty Type	Sparse hair, Abnormal hair morphology, Thick eyebrow, Redundant skin, Reduced subcutaneous adipos...	ORPHA:2963
Palmoplantar Keratoderma, Nagashima Type	Hypergranulosis, Orthokeratotic hyperkeratosis, Palmoplantar hyperhidrosis, Palmoplantar hyperker...	OMIM:615598
Keratoderma Hereditarium Mutilans	Alopecia, Honeycomb palmoplantar hyperkeratosis, Ichthyosis, Abnormal toenail morphology, Hyperke...	ORPHA:494
Alopecia-Intellectual Disability Syndrome 4	Alopecia, Erythroderma, Ichthyosis	OMIM:618840
Epidermolytic Palmoplantar Keratoderma	Hypergranulosis, Abnormal fingernail morphology, Diffuse palmoplantar hyperkeratosis, Palmoplanta...	ORPHA:2199
Hypotrichosis 13	Abnormal sweat gland morphology, Sparse hair, Woolly hair, Sparse eyelashes	OMIM:615896
Complex Regional Pain Syndrome	Erythema, Dry skin, Abnormality of hair growth, Slow-growing nails, Edema of the upper limbs, Ped...	ORPHA:83452
Hypotrichosis 9	Sparse eyebrow, Sparse body hair, Abnormal eyelash morphology, Abnormality of the nail, Sparse sc...	OMIM:614237
Keratosis Pilaris Atrophicans	Absent eyelashes, Erythema, Sparse eyebrow	OMIM:604093
Mastocytosis, Cutaneous	Erythema, Telangiectasia macularis eruptiva perstans, Edema, Urticaria	OMIM:154800
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Sparse hair, Hidrotic ectodermal dysplasia, Brittle hair, Coarse hair	ORPHA:1883
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Palmoplantar keratoderma, Dry skin, Alopecia of scalp, Nail dystrophy, Scaling skin	OMIM:618373
Flynn-Aird Syndrome	Alopecia, Alopecia of scalp, Hyperkeratosis	OMIM:136300
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Fine hair, Fragile nails	ORPHA:500166
Palmoplantar Carcinoma, Multiple Self-Healing	Palmoplantar keratoderma, Nail dystrophy, Chronic rhinitis, Parakeratosis, Ectodermal dysplasia, ...	OMIM:615225
Ectodermal Dysplasia 9, Hair/Nail Type	Abnormal sweat gland morphology, Atrichia, Abnormal sebaceous gland morphology, Absent hair, Nail...	OMIM:614931
Porokeratosis Plantaris Palmaris Et Disseminata	Hyperkeratotic papule, Porokeratosis, Generalized abnormality of skin, Palmoplantar hyperkeratosi...	ORPHA:737
Kid Syndrome	Trichilemmoma, Posterior blepharitis, Psoriasiform dermatitis, Sparse eyelashes, Follicular hyper...	ORPHA:477
Trichothiodystrophy 5, Nonphotosensitive	Sparse eyebrow, Progeroid facial appearance, Reduced hair sulfur content, Cutis marmorata, Tiger ...	OMIM:300953
Lichen Planopilaris	Alopecia, Skin ulcer, Hepatitis, Abnormal fingernail morphology, Onycholysis, Pruritus, Hyperkera...	ORPHA:525
Acrogeria	Small hand, Irregular hyperpigmentation, Skin ulcer, Fine hair, Prematurely aged appearance, Exce...	ORPHA:2500
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Folliculitis, Keratitis, Nail dystrophy, Spar...	OMIM:612843
Cervical Hypertrichosis With Underlying Kyphoscoliosis	Sacral hypertrichosis, Thoracic hypertrichosis, Lumbar hypertrichosis, Anterior cervical hypertri...	OMIM:117850
Verrucous Hemangioma	Hyperkeratotic papule, Epidermal acanthosis, Inflammatory abnormality of the skin	ORPHA:464318
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Generalized hypotrichosis, Sparse eyebrow, Palmoplantar keratoderma, Absent hair, Trichorrhexis n...	ORPHA:1010
Non-Acquired Isolated Growth Hormone Deficiency	Premature skin wrinkling, Genu valgum, Abdominal obesity, Prolonged neonatal jaundice, Sparse hai...	ORPHA:631
Acrokeratosis Verruciformis Of Hopf	Hypergranulosis, Leukonychia, Nail dystrophy, Anonychia, Punctate palmoplantar hyperkeratosis, Ep...	ORPHA:79151
Hidrotic Ectodermal Dysplasia, Halal Type	Supernumerary nipple, Abnormal fingernail morphology, Sparse body hair, Abnormal toenail morpholo...	ORPHA:1809
Porokeratosis 3, Multiple Types	Parakeratosis, Nail dystrophy, Porokeratosis	OMIM:175900
Ichthyosis, Congenital, Autosomal Recessive 6	Orthokeratosis, Palmoplantar keratoderma, Dry skin, Parakeratosis, Hypohidrosis, Generalized icht...	OMIM:612281
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Alopecia, Nail pits, Ridged nail, Nail dystrophy	OMIM:601705
Witkop Syndrome	Abnormal sweat gland morphology, Fine hair, Ridged nail, Concave nail, Hypoplastic fifth toenail,...	OMIM:189500
Odontoonychodermal Dysplasia	Erythema, Dry hair, Sparse body hair, Dry skin, Follicular hyperkeratosis, Thin nail, Epidermal a...	OMIM:257980
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Alopecia, Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Increased...	ORPHA:169154
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Eczematoid dermatitis, Sparse body hair, Abnormal fingernail morphology, Hypohidrosis, Sparse hai...	ORPHA:1810
Hypotrichosis 12	Abnormal sweat gland morphology, Sparse pubic hair, Dry hair, Sparse or absent eyelashes, Sparse ...	OMIM:615885
Pseudopelade Of Brocq	Alopecia, Abnormal hair morphology, Recurrent skin infections, Aplasia/Hypoplasia of the eyebrow,...	ORPHA:129
Marie Unna Hereditary Hypotrichosis	Alopecia, Coarse hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse scal...	ORPHA:444
Erythrokeratodermia Variabilis Et Progressiva 7	Woolly hair, Palmoplantar hyperkeratosis, Dystrophic toenail, Anhidrosis	OMIM:619209
Aquagenic Palmoplantar Keratoderma	Atopic dermatitis, Abnormal phalangeal joint morphology of the hand, Palmoplantar keratoderma, Or...	ORPHA:498359
Porphyria Cutanea Tarda	Alopecia, Scleroderma, Onycholysis, Facial hypertrichosis	OMIM:176100
Woolly Hair, Autosomal Dominant	Dry hair, Coarse hair, Abnormal eyebrow morphology, Palmoplantar hyperkeratosis, Slow-growing hai...	OMIM:194300
Basan Syndrome	Epidermal acanthosis, Palmoplantar keratoderma, Nail dystrophy, Palmoplantar hypohidrosis	OMIM:129200
Ichthyosis Hystrix, Curth-Macklin Type	Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin	OMIM:146590
Dermoodontodysplasia	Toenail dysplasia, Sparse body hair, Fingernail dysplasia, Dry skin, Trichodysplasia, Hypohidrosi...	ORPHA:1660
Psoriasis 2	Psoriasiform dermatitis, Parakeratosis, Scaling skin, Epidermal acanthosis, Hyperkeratosis	OMIM:602723
Schöpf-Schulz-Passarge Syndrome	Alopecia, Sparse hair, Palmoplantar keratoderma, Aplasia/Hypoplasia of the eyebrow	ORPHA:50944
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	Absent nipple, Absent hair, Dry skin, Brittle hair, Sparse hair, Hypohidrotic ectodermal dysplasia	OMIM:614940
Trichothiodystrophy 6, Nonphotosensitive	Dry skin, Tiger tail banding, Slow-growing hair, Brittle hair, Cutaneous photosensitivity	OMIM:616943
Pachyonychia Congenita 2	Subungual hyperkeratosis, Dry hair, Sparse eyebrow, Folliculitis, Nail dystrophy, Nail dysplasia,...	OMIM:167210
Trichothiodystrophy 9, Nonphotosensitive	Sparse eyebrow, Tiger tail banding, Ichthyosis, Nail dystrophy, Sparse hair	OMIM:619692
Peeling Skin Syndrome 2	Erythema, Abnormality of the nail, Scaling skin	OMIM:609796
Epidermolysis Bullosa, Junctional 1A, Intermediate	Palmar hyperhidrosis, Nail dystrophy, Patchy alopecia, Plantar hyperkeratosis, Fragile nails	OMIM:226650
Bazex-Dupre-Christol Syndrome	Atopic dermatitis, Coarse hair, Eczematoid dermatitis, Acne inversa, Trichorrhexis nodosa, Pili t...	OMIM:301845
Ectodermal Dysplasia, Trichoodontoonychial Type	Sparse body hair, Abnormal toenail morphology, Aplasia/Hypoplasia of the eyebrow, Abnormal eyelas...	ORPHA:1818
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Predominantly dermal neutrophilic infiltrate, Psoriasiform lesion, Superficial dermal perivascula...	ORPHA:284426
X-Linked Dominant Chondrodysplasia Punctata	Sparse eyebrow, Coarse hair, Ichthyosis, Sparse eyelashes, Patchy alopecia, Scarring alopecia of ...	ORPHA:35173
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Alopecia, Sparse eyebrow, Dystrophic toenail, Fine hair, Dystrophic fingernails, Hypohidrosis, Sp...	ORPHA:1882
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Erythema, Dystrophic toenail, Telangiectasia, Dystrophic fingernails, Fragile skin, Recurrent los...	ORPHA:158673
Ectodermal Dysplasia-Skin Fragility Syndrome	Alopecia universalis, Cheilitis, Recurrent pneumonia, Palmoplantar keratoderma, Chapped lip, Recu...	ORPHA:158668
Acral Peeling Skin Syndrome	Erythema, Eczematoid dermatitis, Excessive wrinkling of palmar skin, Ichthyosis, Hyperpigmentatio...	ORPHA:263534
Darier Disease	Thickened skin, Palmoplantar keratoderma, Abnormal hair morphology, Subungual hyperkeratotic frag...	ORPHA:218
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Alopecia totalis, Palmoplantar keratoderma, Nail dystrophy, Lack of skin elasticity	ORPHA:1366
Palmoplantar Keratoderma, Norrbotten Recessive Type	Recurrent cutaneous fungal infections, Palmoplantar keratoderma, Hyperkeratosis	OMIM:244850
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Subungual hyperkeratosis, Orthokeratosis, Sparse lateral eyebrow, Eczematoid dermatitis, Acne inv...	OMIM:617337
Cortisone Reductase Deficiency 1	Alopecia, Acne, Hirsutism	OMIM:604931
Cutaneous Mastocytoma	Thickened skin, Erythema, Telangiectasia macularis eruptiva perstans, Dermatographic urticaria, A...	ORPHA:79455
Inflammatory Skin And Bowel Disease, Neonatal, 2	Recurrent pneumonia, Failure to thrive, Increased circulating IgE level, Long eyelashes, Pustule,...	OMIM:616069
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Alopecia, Palmoplantar keratoderma, Ichthyosis, Erythroderma, Conjunctivitis, Sparse hair, Fragil...	OMIM:242150
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Sparse hair, Fine hair	ORPHA:1174
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Alopecia, Sparse eyebrow, Erysipelas, Sparse eyelashes, Nail dysplasia, Hypohidrosis	OMIM:615704
Idiopathic Trachyonychia	Atopic dermatitis, Toenail dysplasia, Fingernail dysplasia, Ridged nail, Nail dystrophy, Ichthyos...	ORPHA:79153
Intermediate Generalized Junctional Epidermolysis Bullosa	Palmoplantar keratoderma, Sparse body hair, Nail dystrophy, Scarring alopecia of scalp, Anonychia	ORPHA:79402
Hypotrichosis-Intellectual Disability, Lopes Type	Sparse hair	ORPHA:2266
Hyperkeratosis-Hyperpigmentation Syndrome	Multiple cafe-au-lait spots, Irregular hyperpigmentation, Hyperkeratosis, Cutaneous photosensitivity	ORPHA:1336
Trichohepatoenteric Syndrome 2	Sparse hair, Trichorrhexis nodosa, Uncombable hair, Brittle hair, Woolly hair	OMIM:614602
Ichthyosis, Congenital, Autosomal Recessive 13	Ichthyosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Hypergranulosis	OMIM:617574
Oliver-Mcfarlane Syndrome	Long eyelashes, Long eyebrows, Alopecia, Sparse hair	OMIM:275400
Hypotrichosis 8	Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ...	OMIM:278150
Pachyonychia Congenita	Onychogryposis of fingernail, Alopecia, Palmoplantar keratoderma, Onychogryposis of toenails, Fin...	ORPHA:2309
Porokeratosis Of Mibelli	Pruritus, Hyperkeratosis, Cutaneous photosensitivity, Porokeratosis	ORPHA:735
Omenn Syndrome	Pneumonia, Thickened skin, Alopecia, Short toe, Failure to thrive, Dry skin, Splenomegaly, Erythr...	ORPHA:39041
Amelo-Onycho-Hypohidrotic Syndrome	Fine hair, Abnormal fingernail morphology, Dry skin, Hypoplastic toenails, Onycholysis, Hypohidro...	ORPHA:1028
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Sparse eyebrow, Folliculitis, Palmoplantar keratoderma, Keratitis, Dry skin, Nail dystrophy, Spar...	OMIM:308800
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1	Follicular hyperkeratosis, Perioral hyperkeratosis, Palmoplantar keratoderma, Congenital bullous ...	OMIM:613000
Erythrokeratodermia Variabilis Et Progressiva 3	Erythema, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Leukonychia, Epidermal acant...	OMIM:617525
Trichothiodystrophy 4, Nonphotosensitive	Small nail, Trichorrhexis nodosa, Concave nail, Nail dystrophy, Sparse eyelashes, Nail dysplasia,...	OMIM:234050
Ichthyosis, Congenital, Autosomal Recessive 5	Orthokeratosis, Palmoplantar keratoderma, White scaling skin, Parakeratosis, Erythroderma, Epider...	OMIM:604777
Peeling Skin Syndrome 5	Epidermal acanthosis, Hyperkeratosis, Scaling skin	OMIM:617115
Pseudoprogeria Syndrome	Alopecia, Sparse eyebrow, Absent eyelashes, Absent eyebrow, Sparse hair, Thin skin	ORPHA:2985
Trichodysplasia-Amelogenesis Imperfecta Syndrome	Trichodysplasia, Alopecia of scalp	ORPHA:79129
Epidermolytic Hyperkeratosis 1	Palmoplantar hyperkeratosis, Erythroderma, Scaling skin, Epidermal acanthosis, Congenital bullous...	OMIM:113800
Hypohidrotic Ectodermal Dysplasia	Generalized hypopigmentation of hair, Eczematoid dermatitis, Breast aplasia, Trichorrhexis nodosa...	ORPHA:238468
Ichthyosis, Lamellar, Autosomal Dominant	Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:146750
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Epidermal acanthosis, Hyperkeratosis	OMIM:615028
Peeling Skin Syndrome 6	Atopic dermatitis, Orthokeratosis, Dry skin, Parakeratosis, Scaling skin, Pruritus	OMIM:618084
Angioma Serpiginosum	Erythema, Vascular skin abnormality	ORPHA:95429
Acral Self-Healing Collodion Baby	Erythema, Palmoplantar scaling skin, Lack of skin elasticity, Edema of the dorsum of hands, Edema...	ORPHA:281127
Choroidal Atrophy-Alopecia Syndrome	Ridged fingernail, Fine hair, Supernumerary nipple, Abnormal fingernail morphology, Bifid nail, T...	ORPHA:1433
Cardiofaciocutaneous Syndrome 3	Webbed neck, Hyperkeratosis, Hyperhidrosis, Curly hair	OMIM:615279
Hypotrichosis 5	Abnormal sweat gland morphology, Alopecia, Thin eyebrow, Sparse eyelashes, Absent pubic hair, Abs...	OMIM:612841
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Cellulitis, Decreased circulating IgG level, Atopic dermatitis, Cutaneous abscess, Increased circ...	OMIM:618944
Hypodontia-Dysplasia Of Nails Syndrome	Ridged fingernail, Thin toenail, Fine hair, Hypoplastic fingernail, Abnormal fingernail morpholog...	ORPHA:2228
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Alopecia, Toenail dysplasia, Abnormal fingernail morphology, Fingernail dysplasia, Hypoplastic to...	ORPHA:2325
Hereditary Mucoepithelial Dysplasia	Alopecia, Sparse hair, Hyperkeratosis, Fine hair	ORPHA:1839
Trichothiodystrophy 2, Photosensitive	Congenital nonbullous ichthyosiform erythroderma, Tiger tail banding, Coarse hair, Ichthyosis	OMIM:616390
Nicolaides-Baraitser Syndrome	Highly arched eyebrow, Alopecia, Clubbing of toes, Broad distal phalanx of finger, Sandal gap, Ec...	ORPHA:3051
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Woolly hair, Palmoplantar keratoderma	OMIM:611528
Alopecia-Intellectual Disability Syndrome	Alopecia, Sparse body hair, Ichthyosis, Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair	ORPHA:2850
Ichthyosis, Congenital, Autosomal Recessive 10	Palmoplantar keratoderma, Hypergranulosis, Orthokeratotic hyperkeratosis, Erythroderma, Generaliz...	OMIM:615024
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level, Palmoplantar hyperkeratosis, Palmar hyperkeratosis, Plantar hype...	OMIM:144200
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant	Palmoplantar keratoderma, Generalized hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplant...	OMIM:620150
Immunodeficiency 58	Allergic rhinitis, Cold urticaria, Molluscum contagiosum, Psoriasiform lesion, Esophagitis, Cutan...	OMIM:618131
Leopard Syndrome 3	Webbed neck, Dry skin, Low posterior hairline, Curly hair, Hyperkeratosis, Epidermal hyperkeratosis	OMIM:613707
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Cellulitis, Skin ulcer, Eczematoid dermatitis, Generalized abnormality of skin, Abnormal hair mor...	ORPHA:2314
Mal De Meleda	Erythema, Inflammatory abnormality of the skin, Palmoplantar keratoderma, Ichthyosis, Superficial...	ORPHA:87503
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Erythema, Alopecia, Thickened skin, Palmoplantar keratoderma, Skin ulcer, Abnormal fingernail mor...	ORPHA:659
Focal Palmoplantar And Gingival Keratoderma	Subungual hyperkeratosis, Palmoplantar keratoderma, Abnormal fingernail morphology, Focal frictio...	ORPHA:2200
Cutaneous Collagenous Vasculopathy	Erythema, Bruising susceptibility, Vascular skin abnormality, Petechiae, Diffuse telangiectasia, ...	ORPHA:280779
Orthostatic Hypotensive Disorder, Streeten Type	Facial erythema, Bruising susceptibility	OMIM:143850
Autosomal Dominant Epidermolytic Ichthyosis	Palmoplantar keratoderma, Skin ulcer, Ichthyosis, Cutaneous photosensitivity, Weight loss, Erythr...	ORPHA:312
Syndromic X-Linked Intellectual Disability 7	Sparse body hair	ORPHA:85274
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Alopecia, Brittle hair	ORPHA:50812
Infantile Digital Fibromatosis	Parakeratosis, Epidermal acanthosis, Hyperkeratosis	ORPHA:199267
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Facial edema, Erythema, Angioedema, Tongue edema, Laryngeal edema, Palpebral edema, Pharyngeal edema	ORPHA:100057
Diffuse Cutaneous Mastocytosis	Thickened skin, Dermatographic urticaria, Generalized abnormality of skin, Abnormality of the spl...	ORPHA:79456
Epidermolysis Bullosa, Lethal Acantholytic	Alopecia universalis, Alopecia totalis, Anonychia, Acantholysis, Absent fingernail	OMIM:609638
Prolidase Deficiency	Erythema, Palmoplantar keratoderma, Skin ulcer, Abnormal fingernail morphology, Dry skin, Genu va...	ORPHA:742
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Long eyelashes, Alopecia, Sparse hair	ORPHA:3363
Erythrokeratodermia Variabilis Et Progressiva 1	Hypergranulosis, Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Erythroderma, Ep...	OMIM:133200
Congenital Disorder Of Glycosylation, Type Iq	Eczematoid dermatitis, Hypertrichosis, Dry skin, Ichthyosis, Cutis laxa, Hyperkeratosis	OMIM:612379
Menkes Disease	Sparse hair, Alopecia, Cutis laxa, Brittle hair	OMIM:309400
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Alopecia, Recurrent pneumonia, Recurrent sinusitis, Pyoderma gangrenosum, Rec...	OMIM:616576
Focal Facial Dermal Dysplasia Type I	Sparse lateral eyebrow, Low anterior hairline, Absent eyelashes, Distichiasis, Sparse hair	ORPHA:79133
Dowling-Degos Disease 2	Hyperkeratotic papule, Follicular hyperkeratosis, Reticular hyperpigmentation, Hypomelanotic macule	OMIM:615327
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Erythema, Small nail, Finger syndactyly, Parakeratosis, Epidermal acanthosis, 2-5 finger syndacty...	OMIM:308050
Bazex-Dupré-Christol Syndrome	Sparse eyebrow, Coarse hair, Trichorrhexis nodosa, Sparse or absent eyelashes, Pili torti, Sparse...	ORPHA:113
Ectodermal Dysplasia-Blindness Syndrome	Skin ulcer, Fine hair, Abnormal fingernail morphology, Hypohidrosis, Keratoconjunctivitis sicca, ...	ORPHA:1806
Acrokeratosis Verruciformis	Ridged nail, Acrokeratosis, Epidermal acanthosis, Punctate palmoplantar hyperkeratosis, Acantholy...	OMIM:101900
Focal Facial Dermal Dysplasia 3, Setleis Type	Distichiasis, Sparse hair, Absent lower eyelashes, Low anterior hairline	OMIM:227260
Neonatal Inflammatory Skin And Bowel Disease	Erythema, Horizontal eyebrow, Chapped lip, Chronic monilial nail infection, Psoriasiform dermatit...	ORPHA:294023
Porphyria Cutanea Tarda	Hypopigmentation of the skin, Poor wound healing, Cutaneous abscess, Hypertrichosis, Corneal scar...	ORPHA:101330
Copper Deficiency, Familial Benign	Seborrheic dermatitis, Early balding, Curly hair	OMIM:121270
Noonan Syndrome 8	Webbed neck, Eczematoid dermatitis, Failure to thrive, Large for gestational age, Cryptorchidism,...	OMIM:615355
X-Linked Agammaglobulinemia	Cellulitis, Alopecia, Recurrent pneumonia, Skin ulcer, Hypopigmented skin patches, Failure to thr...	ORPHA:47
Ichthyosis With Alopecia, Eclabium, Ectropion, And Impaired Intellectual Development	Alopecia, Ichthyosis	OMIM:242510
Inflammatory Skin And Bowel Disease, Neonatal, 1	Paronychia, Blepharitis, Perioral erythema, Failure to thrive, Increased circulating IgE level, P...	OMIM:614328
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia, Eczematoid dermatitis, Failure to thrive, Hepatitis, Increased circulating IgE level, E...	OMIM:304790
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Herpes simplex encephalitis, Increased circulating IgE level, Molluscum contagiosum, Hepatospleno...	OMIM:618982
Chilblain Lupus	Discoid lupus rash, Finger swelling, Inflammatory abnormality of the skin, Skin ulcer, Cutis marm...	ORPHA:90280
Hawkinsinuria	Sparse hair, Fine hair	ORPHA:2118
Congenital Disorder Of Glycosylation, Type Im	Alopecia, Sparse eyebrow, Inflammatory abnormality of the skin, Dry skin, Ichthyosis, Sparse eyel...	OMIM:610768
Naxos Disease	Subungual hyperkeratosis, Sparse eyebrow, Palmoplantar keratoderma, Sparse body hair, Nail dystro...	OMIM:601214
Lelis Syndrome	Yellow nails, Sparse lateral eyebrow, Nail dystrophy, Abnormal toenail morphology, Hypohidrosis, ...	ORPHA:140936
Trichothiodystrophy 8, Nonphotosensitive	Sparse hair, Sparse eyebrow, Eczematoid dermatitis, Trichorrhexis nodosa, Cutis laxa, Woolly hair	OMIM:619691
Ichthyosis, Congenital, Autosomal Recessive 7	Palmoplantar keratoderma, Hypergranulosis, Ichthyosis, Erythroderma, Epidermal acanthosis	OMIM:615022
Pemphigus Foliaceus	Erythema, Psoriasiform dermatitis, Crusting erythematous dermatitis, Skin vesicle, Pustule, Eryth...	ORPHA:79481
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Coarse hair, Nail dystrophy, Brittle hair	ORPHA:75389
Epidermolysis Bullosa Simplex 1C, Localized	Hyperkeratosis	OMIM:131800
Atrophoderma Vermiculata	Hyperkeratotic papule, Abnormal epidermal morphology, Erythema, Atrophic scars, Follicular hyperk...	ORPHA:79100
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Abnormality of humoral immunity, Inflammatory abnormality of the skin, Recurrent pneumonia, Absen...	ORPHA:277
Cutaneous Photosensitivity And Colitis, Lethal	Erythema, Early cutaneous photosensitivity	OMIM:219095
Jessner Lymphocytic Infiltration Of The Skin	Erythema, Cutaneous photosensitivity	ORPHA:33314
Acquired Hypertrichosis Lanuginosa	Thickened skin, Fine hair, Abnormal eyebrow morphology, Ichthyosis, Generalized hirsutism, Acanth...	ORPHA:2221
Rhizomelic Chondrodysplasia Punctata	Dry skin, Alopecia, Ichthyosis, Sparse body hair	ORPHA:177
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Sparse eyebrow, Dry hair, Sparse eyelashes, Nail dysplasia, Ectodermal dysplasia, Pili torti, Bri...	OMIM:225060
Dowling-Degos Disease 4	Epidermal acanthosis, Pruritus, Hypergranulosis	OMIM:615696
Ichthyosis, Congenital, Autosomal Recessive 9	Orthokeratosis, Hypergranulosis, Hypohidrosis, Erythroderma, Epidermal acanthosis, Hyperkeratosis...	OMIM:615023
Fibrodysplasia Ossificans Progressiva	Alopecia	ORPHA:337
Ramon Syndrome	Generalized hirsutism, Hyperkeratosis	ORPHA:3019
Dermoodontodysplasia	Nail dysplasia, Trichodysplasia, Dry skin, Thin skin	OMIM:125640
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema	ORPHA:86923
Glycosylphosphatidylinositol Biosynthesis Defect 25	Sparse hair, Coarse hair	OMIM:619985
Recon Progeroid Syndrome	Progeroid facial appearance, Dry skin, Hyperconvex thumb nails, Long thumb, Cutaneous photosensit...	OMIM:620370
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Eczematoid dermatitis, Increased circulating IgE level, Reduced delayed hypersensitivity, Failure...	OMIM:617241
Nicolaides-Baraitser Syndrome	Dry hair, Broad 2nd toe, Cryptorchidism, Excessive wrinkled skin, Low posterior hairline, Absent ...	OMIM:601358
Palmoplantar Keratoderma, Punctate Type Iii	Acrokeratosis, Hyperkeratosis	OMIM:101850
Dermatoleukodystrophy	Thickened skin, Hyperkeratosis	ORPHA:1659
Progressive Symmetric Erythrokeratodermia	Erythema	ORPHA:316
Chromomycosis	Hyperkeratotic papule, Atypical scarring of skin, Keratitis, Hypopigmented skin patches, Vascular...	ORPHA:182
Ichthyosis, Annular Epidermolytic, 2	Erythema, Orthokeratosis, Palmoplantar keratoderma, Ichthyosis, Palmoplantar hyperkeratosis, Scal...	OMIM:620148
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C...	ORPHA:37042
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Parakeratosis	OMIM:173200
Erythrokeratodermia Variabilis Et Progressiva 4	Erythema, Palmoplantar hyperkeratosis, Epidermal acanthosis, Hyperkeratosis, Congenital nonbullou...	OMIM:617526
Lipoid Proteinosis	Acne, Thickened skin, Alopecia of scalp, Pustule, Hyperkeratosis	ORPHA:530
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Erythema, Dry skin, Ichthyosis, Inguinal hernia, Scaling skin, Joint contracture, Hyperkeratosis,...	OMIM:614457
Systemic Lupus Erythematosus 17	Optic neuritis, Alopecia, Malar rash, Myelitis	OMIM:301080
Neonatal Lupus Erythematosus	Malar rash, Skin rash, Cutaneous photosensitivity, Splenomegaly, Parakeratosis, Maculopapular exa...	ORPHA:398124
Cutis Laxa, Autosomal Recessive, Type Iia	Coarse hair, Redundant skin, Excessive wrinkled skin, Cutis laxa, Brittle hair, Abnormality of ha...	OMIM:219200
Uncombable Hair Syndrome 1	Dry hair, Pili canaliculi, Uncombable hair	OMIM:191480
Ectodermal Dysplasia/Short Stature Syndrome	Palmoplantar keratoderma, Nail dystrophy, Anonychia, Epidermal acanthosis, Hyperkeratosis	OMIM:616029
Cardiofaciocutaneous Syndrome 2	Sparse hair, Absent eyebrow, Fine hair, Curly hair	OMIM:615278
Palmoplantar Keratoderma-Deafness Syndrome	Palmoplantar keratoderma, Hyperkeratosis	ORPHA:2202
Woolly Hair Nevus	Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Curly hair, Patchy hypopig...	ORPHA:79414
Dermatoleukodystrophy	Thickened skin, Progeroid facial appearance, Large hands, Premature skin wrinkling	OMIM:221790
Acquired Ichthyosis	Erythema, Palmoplantar keratoderma, Dry skin, Ichthyosis, Pruritus, Recurrent skin infections, Hy...	ORPHA:454
Ichthyosis Hystrix, Lambert Type	Orthokeratotic hyperkeratosis, Hyperkeratosis	OMIM:146600
Alopecia Totalis	Inflammation of the large intestine, Alopecia totalis, Alopecia of scalp, Onycholysis, Trachyonyc...	ORPHA:700
Pemphigus Vulgaris	Acantholysis, Alopecia of scalp, Recurrent cutaneous abscess formation	ORPHA:704
Alopecia Universalis	Alopecia universalis, Atopic dermatitis, Psoriasiform dermatitis, Absent eyelashes, Patchy alopec...	ORPHA:701
Congenital Disorder Of Glycosylation, Type If	Failure to thrive, Dry skin, Erythroderma, Scaling skin, Flexion contracture, Hyperkeratosis	OMIM:609180
Erythrokeratoderma ''En Cocardes''	Hyperkeratosis, Abnormality of skin pigmentation	ORPHA:315
Keratolytic Winter Erythema	Erythema	OMIM:148370
Mal De Meleda	Perioral erythema, Fragile nails	OMIM:248300
Panniculitis-Induced Localized Lipodystrophy	Erythema, Reduced subcutaneous adipose tissue, Vasculitis in the skin	ORPHA:90159
Erythema Of Acral Regions	Erythema	OMIM:227000
Elastoderma	Eczematoid dermatitis, Cutis laxa, Erysipelas, Premature skin wrinkling	ORPHA:228240
Dermatopathia Pigmentosa Reticularis	Palmoplantar hyperkeratosis, Hypohidrosis, Alopecia of scalp, Nail dystrophy	OMIM:125595
Acute Generalized Exanthematous Pustulosis	Cheilitis, Predominantly dermal neutrophilic infiltrate, Pustule, Skin vesicle, Eosinophilic derm...	ORPHA:293173
Aicardi-Goutieres Syndrome 5	Increased circulating interferon-gamma concentration, Dry skin, Chilblains, Scaling skin, Flexion...	OMIM:612952
Erythema Palmare Hereditarium	Erythema	OMIM:133000
Hailey-Hailey Disease	Erythema	OMIM:169600
Epidermolysis Bullosa Simplex 2E, With Migratory Circinate Erythema	Erythema migrans	OMIM:609352
Annular Erythema	Erythema	OMIM:106500
Erythema Nodosum, Familial	Erythema	OMIM:132990
Congenital Panfollicular Nevus	Hyperkeratosis	ORPHA:139414
Alopecia Antibody Deficiency	Abnormal eyelash morphology, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Sparse body hair	ORPHA:1006
Microcephalic Primordial Dwarfism, Montreal Type	Premature graying of hair, Dry skin, Alopecia of scalp, Cryptorchidism, Low posterior hairline, A...	ORPHA:2617
Rapp-Hodgkin Syndrome	Sparse hair, Sparse eyebrow, Thin skin, Palmoplantar keratoderma, Small nail, Decreased number of...	OMIM:129400
Brachycephaly, Trichomegaly, And Developmental Delay	Highly arched eyebrow, Long eyelashes, Thick eyebrow, Brittle hair, Synophrys	OMIM:617412
Proteus Syndrome	Cerebriform connective tissue nevus, Lymphangioma, Splenomegaly, Multiple lipomas, Lipoma, Epider...	OMIM:176920
Ifap Syndrome 2	Ichthyosis follicularis, Atrichia, Posterior blepharitis, Keratitis, Perioral erythema, Nail dyst...	OMIM:619016
Cutaneous Small Vessel Vasculitis	Erythema, Cutis marmorata, Purpura, Urticaria	ORPHA:889
Trichothiodystrophy 3, Photosensitive	Trichorrhexis nodosa, Tiger tail banding, Cutaneous photosensitivity, Brittle hair	OMIM:616395
Reticulate Acropigmentation Of Kitamura	Hyperkeratosis	OMIM:615537
Pressure-Induced Localized Lipoatrophy	Erythema, Reduced subcutaneous adipose tissue	ORPHA:90160
Xq27.3Q28 Duplication Syndrome	Sparse body hair	ORPHA:261483
Heyn-Sproul-Jackson Syndrome	Sparse hair	OMIM:618724
Griscelli Syndrome, Type 1	Silver-gray hair, Hypopigmentation of the skin, Recurrent tonsillitis, Melanin pigment aggregatio...	OMIM:214450
Porphyria Cutanea Tarda, Type I	Eczematoid dermatitis, Hypertrichosis	OMIM:176090
White Sponge Nevus 2	Epidermal acanthosis, Hyperparakeratosis	OMIM:615785
Chronic Actinic Dermatitis	Allergic rhinitis, Eczematoid dermatitis, Hypopigmented skin patches, Progressive hyperpigmentati...	ORPHA:330064
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair	ORPHA:1067
Autoimmune Lymphoproliferative Syndrome, Type Iii	Alopecia, Recurrent otitis media, Hepatosplenomegaly, Follicular hyperplasia, Splenomegaly, Incre...	OMIM:615559
Dowling-Degos Disease	Hyperkeratotic papule, Inguinal freckling, Acne inversa, Hypermelanotic macule, Generalized abnor...	ORPHA:79145
X-Linked Hypohidrotic Ectodermal Dysplasia	Aplasia/Hypoplasia of the eyebrow, Sparse hair, Hypohidrosis, Sparse body hair	ORPHA:181
Sting-Associated Vasculopathy, Infantile-Onset	Erythema, Pustular rash, Failure to thrive, Cutis marmorata, Malar rash, Nail dystrophy, Skin ras...	OMIM:615934
Hydroa Vacciniforme	Erythema, Telangiectasia of the skin, Cutaneous photosensitivity, Hydroa vacciniforme	ORPHA:330058
Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism	Alopecia	OMIM:203550
Diffuse Palmoplantar Keratoderma, Bothnian Type	Erythema, Skin ulcer	ORPHA:2337
Immunodeficiency, Common Variable, 8, With Autoimmunity	Inflammation of the large intestine, Recurrent otitis media, Psoriasiform lesion, Erythema nodosu...	OMIM:614700
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Dry skin, Ichthyosis, Parakeratosis, Acanthosis nigricans, Epidermal acanthosis, Hyperkeratosis	OMIM:618527
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Cholelithiasis, Coarse hair, Eczematoid dermatitis, Failure to thrive, Pancreatic hypoplasia, Ove...	ORPHA:83617
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Trichiasis, Sparse eyebrow, Keratitis, Nail dystrophy, Ichthyosis, Sparse eyelashes, Nail dysplas...	OMIM:148210
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Pneumonia, Failure to thrive, Panhypogammaglobulinemia, Increased circulating IgE level, Lymph no...	OMIM:602450
Focal Facial Dermal Dysplasia Type Iii	Highly arched eyebrow, Sparse lateral eyebrow, Hypopigmented skin patches, Prematurely aged appea...	ORPHA:1807
Drug-Induced Localized Lipodystrophy	Erythema, Reduced subcutaneous adipose tissue	ORPHA:90157
Papillon-Lefèvre Syndrome	Palmoplantar keratoderma, Periodontitis, Hypertrichosis, Abnormal fingernail morphology, Sparse b...	ORPHA:678
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Polyhydramnios, Sparse eyebrow, Brittle hair	OMIM:618810
Epidermolysis Bullosa Acquisita	Atypical scarring of skin, Inflammation of the large intestine, Abnormal hair morphology, Nail dy...	ORPHA:46487
Acute Radiation Syndrome	Hypopigmentation of the skin, Inflammatory abnormality of the skin, Skin ulcer, Interstitial pneu...	ORPHA:454831
Cardiofaciocutaneous Syndrome 4	Alopecia of scalp, Sparse eyelashes, Absent eyebrow, Palmoplantar hyperkeratosis, Hyperhidrosis, ...	OMIM:615280
Maculopapular Cutaneous Mastocytosis	Erythema, Dermatographic urticaria, Generalized abnormality of skin, Darier's sign, Flushing	ORPHA:79457
Bleeding Disorder, Platelet-Type, 21	Alopecia, Psoriasiform dermatitis, Eczematoid dermatitis	OMIM:617443
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Sparse eyebrow, Absent nipple, Periorbital wrinkles, Sparse body hair, Fine hair, Dry skin, Conca...	OMIM:305100
Ataxia-Telangiectasia	Aplasia/Hypoplasia of the thymus, Failure to thrive, Premature graying of hair, Prematurely aged ...	ORPHA:100
Cardiofaciocutaneous Syndrome	Dry skin, Genu valgum, Cryptorchidism, Excessive wrinkled skin, Low posterior hairline, Brittle h...	ORPHA:1340
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Facial telangiectasia in butterfly midface distribution, Alopecia, Reduced subcutaneous adipose t...	OMIM:137940
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Sparse eyebrow, Sparse body hair, Ichthyosis, Sparse eyelashes, Scarring alopecia of scalp, Acant...	ORPHA:59303
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones	Abnormality of carpal bone ossification, Progeroid facial appearance, Failure to thrive, Generali...	OMIM:608154
Incontinentia Pigmenti	Erythema, Supernumerary nipple, Sparse hair, Hyperkeratosis, Onychogryposis, Alopecia, Breast apl...	OMIM:308300
Pachydermoperiostosis	Thickened skin, Palmoplantar keratoderma, Eczematoid dermatitis, Abnormal fingernail morphology, ...	ORPHA:2796
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	OMIM:144150
Angioma Serpiginosum, Autosomal Dominant	Hyperkeratosis	OMIM:106050
Papillomatosis, Confluent And Reticulated	Hyperkeratosis	OMIM:167900
Tooth Agenesis, Selective, 4	Sparse eyebrow, Sparse scalp hair, Dystrophic toenail, Sparse body hair, Dry skin, Dystrophic fin...	OMIM:150400
Craniofaciofrontodigital Syndrome	Hypertrichosis, Premature skin wrinkling, Large for gestational age, Low anterior hairline, Herni...	ORPHA:363705
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Disseminated mollu...	OMIM:617638
Tricho-Retino-Dento-Digital Syndrome	Sparse hair, Uncombable hair	ORPHA:1264
Alpha-Heavy Chain Disease	Alopecia	ORPHA:100025
Mandibuloacral Dysplasia	Alopecia, Increased subcutaneous truncal adipose tissue, Contractures of the large joints, Increa...	ORPHA:2457
Huriez Syndrome	Epidermal acanthosis, Nail dystrophy, Small nail, Congenital palmoplantar hyperkeratosis	OMIM:181600
Cronkhite-Canada Syndrome	Alopecia, Dystrophic toenail, Sparse body hair, Abnormal fingernail morphology, Generalized hyper...	ORPHA:2930
Mucoepithelial Dysplasia, Hereditary	Pneumonia, Alopecia, Coarse hair, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Chronic...	OMIM:158310
Gand Syndrome	Sparse hair	OMIM:615074
Leopard Syndrome 2	Webbed neck, Dry skin, Curly hair	OMIM:611554
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Progeroid facial appearance, Decreased adipose tissue around neck, Prominent superficia...	OMIM:608612
Pachyonychia Congenita 1	Follicular hyperkeratosis, Palmoplantar hyperkeratosis, Nail dystrophy, Onychogryposis	OMIM:167200
Fg Syndrome 3	Sparse hair, Frontal upsweep of hair, Fine hair	OMIM:300406
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Hyperkeratotic papule, Atypical scarring of skin, Keloids, Small nail, Abnormal fingernail morpho...	ORPHA:79410
Graft Versus Host Disease	Pneumonia, Inflammatory abnormality of the skin, Failure to thrive, Fasciitis, Acute hepatitis, H...	ORPHA:39812
Transgrediens Et Progrediens Palmoplantar Keratoderma	Thickened skin, Dystrophic toenail, Diffuse palmoplantar hyperkeratosis, Dystrophic fingernails, ...	ORPHA:495
Severe Combined Immunodeficiency, X-Linked	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Failure to thrive, Decreased cir...	OMIM:300400
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Erythema, Alopecia, Hypopigmentation of the skin, Palmoplantar keratoderma, Failure to thrive, Ge...	ORPHA:79396
Dermatofibrosarcoma Protuberans	Erythema, Skin ulcer	ORPHA:31112
Lethal Acantholytic Erosive Disorder	Congenital alopecia totalis, Absent hair, Absent toenail, Absent eyelashes, Absent eyebrow, Acant...	ORPHA:158687
Tietz Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen...	ORPHA:42665
Hypotrichosis 3	Abnormal sweat gland morphology, Abnormality of the nail, Abnormal eyelash morphology, Sparse sca...	OMIM:613981
Jaberi-Elahi Syndrome	Sparse eyebrow, Fine hair, Sparse eyelashes, Brittle hair, Sparse hair	OMIM:617988
Osteopenia-Intellectual Disability-Sparse Hair Syndrome	Sparse scalp hair, Fine hair	ORPHA:2324
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Thickened skin, Palmoplantar keratoderma, Premature graying of hair, Abnormal hair morphology, Re...	ORPHA:1979
Rhizomelic Chondrodysplasia Punctata, Type 1	Alopecia, Ichthyosis	OMIM:215100
Zinc Deficiency, Transient Neonatal	Alopecia, Eczematoid dermatitis	OMIM:608118
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Hypopigmentation of the skin, Failure to thrive, Aplasia/Hypoplasia of the eyebrow, Sparse hair, ...	ORPHA:261304
Omenn Syndrome	Pneumonia, Thickened skin, Alopecia, Failure to thrive, Splenomegaly, Hypoplasia of the thymus, E...	OMIM:603554
X-Linked Intellectual Disability, Golabi-Ito-Hall Type	Dry hair, Nail dystrophy, Brittle hair	ORPHA:93947
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Parakeratosis, Hyperkeratosis	OMIM:618339
Lichen Planus Pemphigoides	Abnormality of the nail, Skin vesicle, Conjunctivitis, Pruritus, Hyperkeratosis, Blepharitis	ORPHA:254478
Amaurosis-Hypertrichosis Syndrome	Abnormal eyelash morphology, Coarse hair, Thick eyebrow, Synophrys	ORPHA:1021
Adult Syndrome	Alopecia, Toenail dysplasia, Absent nipple, Skin ulcer, Fine hair, Breast hypoplasia, Fingernail ...	ORPHA:978
Hereditary Bullous Dystrophy, Macular Type	Pneumonia, Alopecia, Atrichia, Short finger, Decreased testicular size, Nail dystrophy, Cryptorch...	ORPHA:1867
Immunodeficiency, Common Variable, 11	Decreased circulating IgG level, Inflammation of the large intestine, Failure to thrive, Increase...	OMIM:615767
Weaver Syndrome	Fine hair, Abnormal fingernail morphology, Redundant skin, Hypoplastic toenails, Thin nail, Deep-...	ORPHA:3447
Sjögren-Larsson Syndrome	Erythema, Abnormal dental enamel morphology, Dry skin, Generalized hyperpigmentation, Ichthyosis,...	ORPHA:816
Immunodeficiency 103, Susceptibility To Fungal Infections	Increased circulating IgE level, Lymphadenopathy, Deep dermatophytosis, Chronic oral candidiasis	OMIM:212050
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Long eyelashes, Fine hair, Hyperhidrosis, High anterior hairline	ORPHA:231137
Porokeratosis 7, Multiple Types	Parakeratosis, Porokeratosis	OMIM:614714
Porokeratosis 1, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175800
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Joint contracture of the hand, Bronchiectasis, Keratitis, Eczematoid dermatitis, Increased circul...	OMIM:618523
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Abnormal sweat gland morphology, Alopecia, Absent eyelashes, Absent eyebrow, Abnormality of the n...	OMIM:607823
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Alopecia, Ichthyosis, Abnormal toenail morphology, Hypohidrosis, Sparse hair, Hyperkeratosis	ORPHA:1005
Trichodermodysplasia-Dental Alterations Syndrome	Sparse lateral eyebrow, Fine hair, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes,...	ORPHA:3353
Immunodeficiency 114, Folate-Responsive	Decreased circulating IgG level, Atopic dermatitis, Skin ulcer, Increased circulating IgE level, ...	OMIM:620603
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Cutis marmorata, Brittle hair	OMIM:236200
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Recurrent pneumonia, Increased circulating interleukin 8 concentration, Bronchiectasis, Failure t...	OMIM:301220
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Highly arched eyebrow, Alopecia, Sparse lateral eyebrow, Dystrophic toenail, Nail dystrophy, Dyst...	ORPHA:3253
Myoclonic-Astatic Epilepsy	Premature skin wrinkling, Frontal balding, Syndactyly	ORPHA:1942
Amyloidosis, Primary Localized Cutaneous, 1	Dry skin, Pruritus, Scaling skin	OMIM:105250
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Dry skin, Cryptorchidism, Neonatal death, Absent eyelashes, Ectodermal dysplasia, Absent eyebrow,...	OMIM:308205
Trichorhinophalangeal Syndrome, Type Iii	Sparse hair, Sparse lateral eyebrow, Fine hair, Epidermal hyperkeratosis	OMIM:190351
Geroderma Osteodysplasticum	Periodontitis, Progeroid facial appearance, Premature skin wrinkling, Abnormal hair morphology, F...	OMIM:231070
Keratolytic Winter Erythema	Erythema	ORPHA:50943
Hypergonadotropic Hypogonadism And Partial Alopecia	Alopecia	OMIM:241090
Congenital Lethal Erythroderma	Failure to thrive, Dry skin, Congenital exfoliative erythroderma, Ichthyosis, Urticaria	ORPHA:1954
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Absent nipple, Sparse lateral eyebrow, Periorbital wrinkles, Sparse body hair, Dry skin, Sparse e...	OMIM:614941
Elastosis Perforans Serpiginosa	Crusting erythematous dermatitis, Hyperkeratotic papule, Epidermal acanthosis, Cutis laxa	ORPHA:79148
Odontotrichoungual-Digital-Palmar Syndrome	Abnormality of hair texture, Nail dysplasia, Nail dystrophy	OMIM:601957
Linear Verrucous Nevus Syndrome	Hyperkeratosis, Sparse scalp hair	ORPHA:2611
Costello Syndrome	Abnormal hair morphology, Abnormal fingernail morphology, Redundant skin, Hypoplastic toenails, L...	ORPHA:3071
Combined Immunodeficiency Due To Dock8 Deficiency	Pneumonia, Atopic dermatitis, Skin ulcer, Increased circulating IgE level, Recurrent sinusitis, C...	ORPHA:217390
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Sparse eyebrow, Atypical scarring of skin, Progeroid facial appearance, Testicular torsion, Atrop...	ORPHA:75496
Self-Improving Dystrophic Epidermolysis Bullosa	Generalized abnormality of skin, Atrophic scars, Nail dystrophy, Anonychia, Fragile skin, Abnorma...	ORPHA:79411
Intellectual Developmental Disorder, Fra12A Type	Hyperkeratosis, Erythroderma	OMIM:136630
Short Syndrome	Radial deviation of finger, Clinodactyly, Premature skin wrinkling, Absence of subcutaneous fat, ...	OMIM:269880
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome	Palmoplantar hyperkeratosis, Hyperkeratotic papule, Leukonychia, Palmoplantar keratoderma	ORPHA:2698
Hypomelanosis Of Ito	Alopecia	OMIM:300337
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Predominantly lower limb lymphedema, Alopecia, Palmar telangiectasia, Sparse body hair, Ascites, ...	ORPHA:69735
Pituitary Adenoma 4, Acth-Secreting	Poor wound healing, Bruising susceptibility, Striae distensae, Ecchymosis, Hirsutism, Facial eryt...	OMIM:219090
Congenital Short Bowel Syndrome	Sparse hair	ORPHA:2301
Hoyeraal-Hreidarsson Syndrome	Bone marrow hypocellularity, Generalized hypopigmentation of hair, Failure to thrive, Premature g...	ORPHA:3322
Familial Cold Autoinflammatory Syndrome 3	Erythema, Dermatographic urticaria, Cold urticaria, Angioedema	OMIM:614468
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities	Sparse hair	OMIM:273390
Chondrodysplasia Punctata, Autosomal Dominant	Hyperkeratosis with erythema, Sparse hair, Coarse hair	OMIM:118650
Trichothiodystrophy	Dry skin, Cryptorchidism, Brittle hair, Split nail, Cutaneous photosensitivity, Clubbing, Eczemat...	ORPHA:33364
Lmna-Related Cardiocutaneous Progeria Syndrome

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