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Gene: Krt10 MGI:96685

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

keratin 10

Synonyms:

suprabasal cytokeratin 10, Krt-1.10, Krt1-10, cytokeratin 10, K1C1, K10, D130054E02Rik, keratin 10

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 Krt10 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 Krt10 (5 diseases)
Human diseases predicted to be associated with Krt10 (750 diseases)

The table below shows human diseases associated to Krt10 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Ichthyosis, Annular Epidermolytic, 1	Erythema, Skin erosion, Orthokeratosis, Hyperparakeratosis, Erythematous plaque, Ichthyosis, Palm...	OMIM:607602
Ichthyosis Hystrix, Lambert Type	Orthokeratotic hyperkeratosis, Hyperkeratosis	OMIM:146600
Autosomal Dominant Epidermolytic Ichthyosis	Palmoplantar keratoderma, Skin ulcer, Ichthyosis, Erythroderma, Hyperkeratosis, Congenital bullou...	ORPHA:312
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant	Palmoplantar keratoderma, Generalized hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplant...	OMIM:620150
Ichthyosis With Confetti	Ichthyosis, Decreased body weight, Palmoplantar hyperkeratosis, Scaling skin, Congenital nonbullo...	OMIM:609165

The table below shows human diseases predicted to be associated to Krt10 by phenotypic similarity.

Disease	Matching phenotypes	Source
Ringed Hair Disease	Abnormal hair pattern, Fine hair	ORPHA:169
Pili Bifurcati	Abnormal hair morphology, Abnormality of hair texture	ORPHA:720
Uncombable Hair Syndrome 3	Pili canaliculi, Brittle hair, Uncombable hair, Curly hair	OMIM:617252
Woolly Hair, Autosomal Recessive 3	Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Curly hair, Sparse hair, Sparse scalp hair	OMIM:616760
Palmoplantar Keratoderma, Epidermolytic, 2	Curly hair	OMIM:620411
Porokeratosis Plantaris Palmaris Et Disseminata	Hyperkeratotic papule, Porokeratosis, Generalized abnormality of skin, Palmoplantar hyperkeratosi...	ORPHA:737
Pruritic Urticarial Papules And Plaques Of Pregnancy	Pruritus on foot, Erythematous papule, Eczematoid dermatitis, Urticarial plaque, Pruritis on brea...	ORPHA:64745
Discoid Fibromas, Familial Multiple	Abnormal hair morphology	OMIM:190340
Ringed Hair	Abnormal hair morphology	OMIM:180600
Hairy Nose Tip	Abnormal hair morphology	OMIM:139630
Ulerythema Ophryogenesis	Hyperkeratotic papule, Erythematous papule, Dry skin, Dermal atrophy, Facial erythema, Follicular...	ORPHA:3406
Porokeratosis Of Mibelli	Porokeratosis, Aplasia/Hypoplasia of the skin, Hyperkeratosis, Pruritus, Cutaneous photosensitivity	ORPHA:735
Palmoplantar Keratoderma, Norrbotten Recessive Type	Recurrent cutaneous fungal infections, Papule, Palmoplantar keratoderma, Hyperkeratosis	OMIM:244850
Uncombable Hair Syndrome 2	Pili canaliculi, Uncombable hair	OMIM:617251
Darier Disease	Thickened skin, Plantar pits, Palmoplantar keratoderma, Subungual hyperkeratotic fragments, Skin ...	ORPHA:218
Ichthyosis, Congenital, Autosomal Recessive 14	Erythema, Orthokeratotic hyperkeratosis, Scaling skin, Pruritus, Hyperkeratosis, Congenital nonbu...	OMIM:617571
Epidermolysis Bullosa Simplex 1C, Localized	Milia, Hyperkeratosis	OMIM:131800
Hyperkeratosis-Hyperpigmentation Syndrome	Multiple cafe-au-lait spots, Papule, Cutaneous photosensitivity, Hyperkeratosis	ORPHA:1336
Erythrokeratodermia Variabilis Et Progressiva 4	Erythema, Palmoplantar hyperkeratosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythr...	OMIM:617526
Diffuse Palmoplantar Keratoderma, Bothnian Type	Erythema, Skin ulcer, Diffuse palmoplantar hyperkeratosis, Pruritus, Papule	ORPHA:2337
Familial Benign Chronic Pemphigus	Erythema, Skin erosion, Skin vesicle, Acantholysis, Hyperkeratosis	ORPHA:2841
Progressive Symmetric Erythrokeratodermia	Skin plaque, Erythema, Palmoplantar keratoderma	ORPHA:316
Hypotrichosis 4	Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair	OMIM:146550
Congenital Panfollicular Nevus	Skin nodule, Hyperkeratosis, Verrucous papule	ORPHA:139414
Atrophoderma Vermiculata	Hyperkeratotic papule, Erythema, Hypoplastic pilosebaceous units, Atrophic scars, Skin pit, Peria...	ORPHA:79100
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Erythema migrans, Skin vesicle, Parakeratosis, Skin fragility with non-scarring blistering, Pruritus	ORPHA:158681
Acquired Ichthyosis	Erythema, Palmoplantar keratoderma, Dry skin, Recurrent skin infections, Ichthyosis, Pruritus, Pa...	ORPHA:454
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Hyperkeratotic papule, Atypical scarring of skin, Localized skin lesion, Keloids, Erythematous pa...	ORPHA:79410
Ichthyosis, Lamellar, Autosomal Dominant	Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:146750
Reticulate Acropigmentation Of Kitamura	Hyperkeratosis, Macule	OMIM:615537
Ichthyosis Hystrix, Curth-Macklin Type	Hyperkeratotic papule, Palmoplantar keratoderma, Fragile skin, Scaling skin	OMIM:146590
Uncombable Hair Syndrome	Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Pemphigus Foliaceus	Erythema, Skin erosion, Psoriasiform dermatitis, Erythematous plaque, Crusting erythematous derma...	ORPHA:79481
Keratosis, Focal Palmoplantar And Gingival	Gingival hyperkeratosis, Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkerat...	OMIM:148730
Krt1-Related Diffuse Nonepidermolytic Keratoderma	Erythema, Palmoplantar blistering, Decreased movement range in interphalangeal joints, Dry skin, ...	ORPHA:530838
Ichthyosis, Congenital, Autosomal Recessive 13	Ichthyosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Hypergranulosis	OMIM:617574
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1	Follicular hyperkeratosis, Perioral hyperkeratosis, Palmoplantar keratoderma, Congenital bullous ...	OMIM:613000
Mal De Meleda	Erythema, Inflammatory abnormality of the skin, Palmoplantar keratoderma, Ichthyosis, Lichenoid s...	ORPHA:87503
Dowling-Degos Disease	Hyperkeratotic papule, Palmar pits, Erythematous papule, Epidermoid cyst, Acne inversa, Generaliz...	ORPHA:79145
Erythrokeratodermia Variabilis Et Progressiva 2	Skin plaque, Erythema, Palmoplantar keratoderma	OMIM:617524
Uncombable Hair Syndrome 1	Dry hair, Pili canaliculi, Uncombable hair	OMIM:191480
Palmoplantar Keratoderma, Punctate Type Iii	Acrokeratosis, Hyperkeratosis	OMIM:101850
Lichen Planus Pemphigoides	Skin vesicle, Pruritus, Hyperkeratosis	ORPHA:254478
Aquagenic Palmoplantar Keratoderma	Atopic dermatitis, Palmoplantar keratoderma, Orthokeratotic hyperkeratosis, White papule, Skin pl...	ORPHA:498359
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema	ORPHA:86923
Dowling-Degos Disease 2	Hyperkeratotic papule, Follicular hyperkeratosis, Hypomelanotic macule	OMIM:615327
Insulin-Resistance Syndrome Type A	Subcutaneous nodule, Hyperkeratosis	ORPHA:2297
Ichthyosis, Annular Epidermolytic, 2	Erythema, Skin erosion, Orthokeratosis, Palmoplantar keratoderma, Ichthyosis, Palmoplantar hyperk...	OMIM:620148
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Fragile skin, Hyperkeratosis	OMIM:615028
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Hypermelanotic macule, Pruritus, Milia, Hypomelanotic macule, Spotty hypopigmentation, Palmar hyp...	ORPHA:79399
Iga Pemphigus	Skin erosion, Cutaneous abscess, Generalized abnormality of skin, Neutrophilic infiltration of th...	ORPHA:555905
Ichthyosis, Annular Epidermolytic, 1	Erythema, Skin erosion, Orthokeratosis, Hyperparakeratosis, Erythematous plaque, Ichthyosis, Palm...	OMIM:607602
Palmoplantar Keratoderma And Congenital Alopecia 2	Dry skin, Facial erythema, Palmoplantar hyperkeratosis, Hyperkeratosis, Sclerodactyly	OMIM:212360
Erythrokeratoderma ''En Cocardes''	Papule, Hyperkeratosis	ORPHA:315
Acrokeratoderma, Hereditary Papulotranslucent	Fine hair	OMIM:101840
Dermatoleukodystrophy	Thickened skin, Hyperkeratosis	ORPHA:1659
Ichthyosis With Erythrokeratoderma	Erythema, Palmoplantar keratoderma, Congenital ichthyosiform erythroderma, Diffuse palmoplantar h...	OMIM:620507
Ichthyosis Hystrix, Lambert Type	Orthokeratotic hyperkeratosis, Hyperkeratosis	OMIM:146600
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	OMIM:144150
Angioma Serpiginosum, Autosomal Dominant	Hyperkeratosis	OMIM:106050
Papillomatosis, Confluent And Reticulated	Hyperkeratosis	OMIM:167900
Erythrokeratodermia Variabilis Et Progressiva 5	Palmoplantar hyperkeratosis, Hyperkeratosis	OMIM:617756
Palmoplantar Keratoderma, Nagashima Type	Hypergranulosis, Orthokeratotic hyperkeratosis, Palmoplantar hyperhidrosis, Palmoplantar hyperker...	OMIM:615598
Palmoplantar Keratoderma-Deafness Syndrome	Palmoplantar keratoderma, Hyperkeratosis	ORPHA:2202
Elastosis Perforans Serpiginosa	Hyperkeratotic papule, Erythematous papule, Skin-colored papule, Crusting erythematous dermatitis...	ORPHA:79148
Ichthyosis, Congenital, Autosomal Recessive 8	Erythema, Orthokeratosis, Hypergranulosis, Ichthyosis, Hyperkeratosis	OMIM:613943
Verrucous Hemangioma	Skin plaque, Hyperkeratotic papule, Inflammatory abnormality of the skin	ORPHA:464318
Epidermolysis Bullosa Dystrophica, Pretibial	Atrophic scars, Pruritus, Hyperkeratosis	OMIM:131850
Peeling Skin Syndrome 5	Epidermal acanthosis, Hyperkeratosis, Scaling skin	OMIM:617115
Classic Mycosis Fungoides	Erythema, Hypopigmented skin patches, Skin ulcer, Eczematoid dermatitis, Dry skin, Skin rash, Ski...	ORPHA:2584
Anonychia With Flexural Pigmentation	Hypermelanotic macule, Follicular hyperkeratosis, Hyperkeratosis, Macular telangiectasia	ORPHA:69125
Superficial Epidermolytic Ichthyosis	Erythema, Palmoplantar keratoderma, Ichthyosis, Acantholysis, Thin skin	ORPHA:455
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Skin erosion, Nevus, Atrophic scars, Milia, Palmoplantar hyperkeratosis, Aplasia cutis congenita ...	ORPHA:89838
Hypotrichosis 6	Erythema, Pruritus, Follicular hyperkeratosis	OMIM:607903
Mal De Meleda	Ichthyosis, Congenital symmetrical palmoplantar keratosis, Perioral erythema	OMIM:248300
Chand Syndrome	Nail dysplasia, Curly hair	OMIM:214350
Angioma Serpiginosum, X-Linked	Sparse hair, Nail dystrophy, Fine hair	OMIM:300652
Vulvovaginal Gingival Syndrome	Erythema, Skin erosion, Pruritus, Parakeratosis	ORPHA:83453
Trichodysplasia-Xeroderma Syndrome	Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Trichodysplasia, P...	ORPHA:3361
Marie Unna Hereditary Hypotrichosis	Alopecia, Coarse hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse scal...	ORPHA:444
Ichthyosis Hystrix Of Curth-Macklin	Diffuse palmoplantar hyperkeratosis, Recurrent skin infections, Hyperkeratosis, Ichthyosis	ORPHA:79503
Acrokeratosis Verruciformis	Verrucous papule, Acrokeratosis, Punctate palmoplantar hyperkeratosis, Acantholysis, Hyperkeratosis	OMIM:101900
Monilethrix	Alopecia, Nail dystrophy, Nail dysplasia, Brittle hair, Abnormality of hair texture, Sparse hair	OMIM:158000
Jessner Lymphocytic Infiltration Of The Skin	Erythema, Skin plaque, Pruritus, Papule, Cutaneous photosensitivity	ORPHA:33314
Hyperkeratosis Lenticularis Perstans	Skin ulcer, Hyperkeratosis lenticularis perstans, Aplasia/Hypoplasia of the skin, Pruritus, Papule	ORPHA:409
Peeling Skin Syndrome 4	Orthokeratosis, Palmoplantar keratoderma, Ichthyosis, Scaling skin, Epidermal acanthosis, Hyperke...	OMIM:607936
Erythrokeratodermia Variabilis Et Progressiva 3	Erythema, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Hyperkeratosis	OMIM:617525
Autosomal Dominant Epidermolytic Ichthyosis	Palmoplantar keratoderma, Skin ulcer, Ichthyosis, Erythroderma, Hyperkeratosis, Congenital bullou...	ORPHA:312
Keratoderma Hereditarium Mutilans With Ichthyosis	Orthokeratosis, Palmoplantar keratoderma, Honeycomb palmoplantar hyperkeratosis, Hypergranulosis,...	ORPHA:79395
Erythrokeratodermia Variabilis	Erythema, Dry skin, Patchy palmoplantar hyperkeratosis, Skin rash, Hyperkeratosis, Macule, Hyperm...	ORPHA:317
Woolly Hair Nevus	Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Curly hair, Patchy hypopig...	ORPHA:79414
Cutaneous Mastocytoma	Erythema, Thickened skin, Telangiectasia macularis eruptiva perstans, Dermatographic urticaria, E...	ORPHA:79455
Chilblain Lupus	Discoid lupus rash, Inflammatory abnormality of the skin, Erythematous papule, Skin ulcer, Cutis ...	ORPHA:90280
Ichthyosis, Congenital, Autosomal Recessive 10	Palmoplantar keratoderma, Hypergranulosis, Orthokeratotic hyperkeratosis, Erythroderma, Generaliz...	OMIM:615024
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Erythema, Dermal atrophy, Milia, Erythematous plaque, Telangiectasia, Crusting erythematous derma...	ORPHA:158673
Familial Reactive Perforating Collagenosis	Hyperkeratotic papule, Inflammatory abnormality of the skin, Erythematous papule, Crusting erythe...	ORPHA:79147
Dystrophic Epidermolysis Bullosa Pruriginosa	Atrophic scars, Milia, Dermal atrophy, Skin plaque, Pruritus, Subcutaneous nodule, Papule, Hyperk...	ORPHA:89843
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant	Palmoplantar keratoderma, Generalized hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplant...	OMIM:620150
Epidermolytic Hyperkeratosis 1	Congenital bullous ichthyosiform erythroderma, Epidermal acanthosis, Palmoplantar hyperkeratosis,...	OMIM:113800
Hair Defect With Photosensitivity And Impaired Intellectual Development	Sparse eyebrow, Coarse hair, Sparse eyelashes, Brittle hair, Sparse hair	OMIM:234030
Acral Peeling Skin Syndrome	Erythema, Skin erosion, Eczematoid dermatitis, Excessive wrinkling of palmar skin, Ichthyosis, Ma...	ORPHA:263534
Woolly Hair	Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality...	ORPHA:170
Ichthyosis, Congenital, Autosomal Recessive 6	Orthokeratosis, Palmoplantar keratoderma, Dry skin, Parakeratosis, Epidermal acanthosis, Scaling ...	OMIM:612281
Transgrediens Et Progrediens Palmoplantar Keratoderma	Thickened skin, Erythematous plaque, Lichenoid skin lesion, Diffuse palmoplantar hyperkeratosis, ...	ORPHA:495
Sabinas Brittle Hair Syndrome	Dry hair, Nail dystrophy, Nail dysplasia, Brittle hair, Sparse hair	OMIM:211390
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Erythema, Palmoplantar keratoderma, Ichthyosis, Parakeratosis, Pruritus, Hyperkeratosis	OMIM:615821
Keratosis Palmoplantaris Striata Ii	Epidermal acanthosis, Palmoplantar keratoderma	OMIM:612908
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome	Abnormality of hair texture, Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the ey...	ORPHA:2891
Woolly Hair, Autosomal Dominant	Dry hair, Coarse hair, Abnormal eyebrow morphology, Slow-growing hair, Abnormal eyelash morpholog...	OMIM:194300
Woolly Hair-Skin Fragility Syndrome	Acantholysis, Palmoplantar keratoderma, Fragile skin	OMIM:620415
Erosive Pustular Dermatosis Of The Scalp	Pustule, Erythema, Skin erosion, Scarring alopecia of scalp	ORPHA:222
Bathing Suit Ichthyosis	Thickened skin, Autoamputation of digits, Ichthyosis, Parakeratosis, Palmoplantar hyperkeratosis,...	ORPHA:100976
Pili Torti	Alopecia, Abnormal eyebrow morphology, Pili torti, Brittle hair, Abnormality of hair texture, Abn...	ORPHA:2889
Acute Generalized Exanthematous Pustulosis	Predominantly dermal neutrophilic infiltrate, Pustule, Skin vesicle, Eosinophilic dermal infiltra...	ORPHA:293173
Pili Torti, Early-Onset	Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Co...	OMIM:261900
Erythema Elevatum Diutinum	Skin nodule, Skin vesicle, Skin rash, Vasculitis in the skin	ORPHA:90000
Lipoid Proteinosis Of Urbach And Wiethe	Thickened skin, Skin erosion, Skin plaque, Papule, Hyperkeratosis	OMIM:247100
Sjögren-Larsson Syndrome	Erythema, Dry skin, Ichthyosis, Hyperkeratosis, Urticaria	ORPHA:816
Cutaneous Collagenous Vasculopathy	Erythema, Bruising susceptibility, Vascular skin abnormality, Petechiae, Skin rash, Diffuse telan...	ORPHA:280779
Parana Hard Skin Syndrome	Thickened skin, Hyperkeratosis	ORPHA:2812
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Dry skin, Fragile skin, Follicular hyperkeratosis, Scaling skin, Punctate palmoplantar hyperkerat...	OMIM:616295
Ichthyosis, Congenital, Autosomal Recessive 3	Erythema, Palmoplantar keratoderma, Ichthyosis, Hyperkeratosis, Congenital nonbullous ichthyosifo...	OMIM:606545
Vibratory Urticaria	Facial erythema, Dermatographic urticaria, Flushing, Urticaria	OMIM:125630
Infantile Digital Fibromatosis	Skin nodule, Parakeratosis, Hyperkeratosis	ORPHA:199267
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Erythema, Dry skin, Ichthyosis, Death in childhood, Scaling skin, Hyperkeratosis, Congenital nonb...	OMIM:614457
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears	Woolly hair, Sparse hair	OMIM:278200
Psoriasis 2	Parakeratosis, Epidermal acanthosis, Hyperkeratosis, Scaling skin	OMIM:602723
Darier-White Disease	Palmar pits, Plantar pits, Subungual hyperkeratotic fragments, Acrokeratosis, Pruritus, Acantholy...	OMIM:124200
Hypotrichosis And Recurrent Skin Vesicles	Skin vesicle, Follicular hyperkeratosis	OMIM:613102
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Generalized hyperkeratosis, Dry skin, Cutis laxa, Epidermal acanthosis, Scaling skin, Generalized...	ORPHA:2269
Peeling Skin Syndrome 6	Atopic dermatitis, Orthokeratosis, Dry skin, Parakeratosis, Scaling skin, Pruritus	OMIM:618084
Epidermolytic Palmoplantar Keratoderma	Interphalangeal joint contracture of finger, Hypergranulosis, Diffuse palmoplantar hyperkeratosis...	ORPHA:2199
Pemphigus Erythematosus	Localized skin lesion, Skin erosion, Focal dermal aplasia/hypoplasia, Hypopigmented skin patches,...	ORPHA:79480
Graham Little-Piccardi-Lassueur Syndrome	Pruritus, Perifollicular hyperkeratosis	ORPHA:505
Cutaneous Small Vessel Vasculitis	Erythema, Cutis marmorata, Recurrent skin infections, Skin rash, Subcutaneous nodule, Papule, Pur...	ORPHA:889
Ichthyosis, Congenital, Autosomal Recessive 5	Orthokeratosis, Palmoplantar keratoderma, White scaling skin, Parakeratosis, Palmar hyperlinearit...	OMIM:604777
Recessive X-Linked Ichthyosis	Dry skin, Hyperkeratosis, Ichthyosis	ORPHA:461
Idiopathic Localized Lipodystrophy	Erythema, Inflammatory abnormality of the skin, Reduced subcutaneous adipose tissue, Scleroderma,...	ORPHA:90158
Ichthyosis With Confetti	Ichthyosis, Decreased body weight, Palmoplantar hyperkeratosis, Scaling skin, Congenital nonbullo...	OMIM:609165
Pemphigoid Gestationis	Skin vesicle, Pruritus	ORPHA:63275
Erythrokeratodermia Variabilis Et Progressiva 6	Parakeratosis, Pruritus, Erythematous plaque, Superficial dermal perivascular inflammatory infilt...	OMIM:618531
Pressure-Induced Localized Lipoatrophy	Skin nodule, Erythema, Inflammatory abnormality of the skin, Reduced subcutaneous adipose tissue	ORPHA:90160
Necrobiosis Lipoidica	Erythema, Indurated nodule, Inflammatory abnormality of the skin, Skin ulcer, Skin nodule, Atroph...	ORPHA:542592
Peeling Skin Syndrome 3	Erythema, White scaling skin, Pruritus	OMIM:616265
Trichothiodystrophy 7, Nonphotosensitive	Follicular hyperkeratosis, Cutaneous photosensitivity, Ichthyosis, Congenital nonbullous ichthyos...	OMIM:618546
Dermatitis, Atopic	Atopic dermatitis, Eczematoid dermatitis, Dry skin, Pallor, Ichthyosis, Facial erythema, Pruritus...	OMIM:603165
Dermatofibrosarcoma Protuberans	Erythema, Subcutaneous nodule, Skin ulcer, Thickened skin	ORPHA:31112
Ichthyosis, Congenital, Autosomal Recessive 11	Sparse eyebrow, Sparse body hair, Curly eyelashes, Curly hair, Sparse eyelashes, Pili torti, Brit...	OMIM:602400
Palmoplantar Keratoderma And Congenital Alopecia 1	Plantar hyperkeratosis, Palmoplantar erythema, Palmoplantar keratoderma, Epidermal hyperkeratosis	OMIM:104100
Bazex Syndrome	Palmoplantar keratoderma, Parakeratosis, Acanthosis nigricans, Scaling skin, Hyperkeratosis	ORPHA:166113
Angioma Serpiginosum	Erythema, Macule, Vascular skin abnormality	ORPHA:95429
Cardiofaciocutaneous Syndrome 2	Sparse hair, Absent eyebrow, Fine hair, Curly hair	OMIM:615278
Naxos Disease	Abnormality of hair texture, Woolly hair, Sparse scalp hair, Curly hair	ORPHA:34217
Dermatitis Herpetiformis	Erythema, Eczematoid dermatitis, Skin vesicle, Macule, Pruritus, Urticaria	ORPHA:1656
Erythema Of Acral Regions	Erythema, Talipes equinovarus	OMIM:227000
Hydroa Vacciniforme	Papulovesicular eruption, Erythema, Eczematoid dermatitis, Malar rash, Hydroa vacciniforme, Super...	ORPHA:330058
Panniculitis-Induced Localized Lipodystrophy	Erythema, Inflammatory abnormality of the skin, Reduced subcutaneous adipose tissue, Vasculitis i...	ORPHA:90159
Hypotrichosis 7	Abnormal sweat gland morphology, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axill...	OMIM:604379
Lichen Planopilaris	Hypopigmented skin patches, Skin ulcer, Dermal atrophy, Pruritus, Papule, Hyperkeratosis	ORPHA:525
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Acne inversa, Chronic furunculosis, Perifolliculitis, Follicular hyperkeratosis, Recurrent cutane...	OMIM:613736
Hypotrichosis Simplex Of The Scalp	Parakeratosis, Epidermal acanthosis, Hyperkeratosis, Scaling skin	ORPHA:90368
Alopecia-Intellectual Disability Syndrome 1	Alopecia universalis, Alopecia	OMIM:203650
Quinquaud Folliculitis Decalvans	Pustule, Erythema, Scarring alopecia of scalp, Recurrent skin infections	ORPHA:346
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Hypotrichosis 12	Abnormal sweat gland morphology, Sparse pubic hair, Dry hair, Sparse or absent eyelashes, Sparse ...	OMIM:615885
Maculopapular Cutaneous Mastocytosis	Erythema, Dermatographic urticaria, Generalized abnormality of skin, Macule, Pruritus, Darier's s...	ORPHA:79457
Hypotrichosis 13	Abnormal sweat gland morphology, Sparse hair, Woolly hair, Sparse eyelashes	OMIM:615896
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Folliculitis, Palmoplantar keratoderma, Dry skin, Facial erythema, Scarring alopecia of scalp, Fo...	OMIM:308800
Cutaneous Photosensitivity And Colitis, Lethal	Erythema, Early cutaneous photosensitivity, Death in infancy	OMIM:219095
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Hyperkeratotic papule, Milia, Hypomelanotic macule, Spotty hypopigmentation, Palmar hyperkeratosi...	ORPHA:79397
Acrokeratoelastoidosis Of Costa	Hyperkeratotic papule, Orthokeratosis, Hypergranulosis, Piezogenic pedal papules, Palmoplantar hy...	ORPHA:38
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Palmoplantar keratoderma, Palmoplantar scaling skin, Death in early adulthood, Death in adolescen...	OMIM:605676
Palmoplantar Keratoderma And Woolly Hair	Sparse eyebrow, Sparse body hair, Leukonychia, Sparse eyelashes, Woolly hair, Sparse scalp hair	OMIM:616099
Variegate Porphyria, Childhood-Onset	Atopic dermatitis, Skin erosion, Milia, Fragile skin, Cutaneous photosensitivity, Epidermal hyper...	OMIM:620483
Peeling Skin Syndrome 2	Erythema, Scaling skin	OMIM:609796
Warty Dyskeratoma	Localized skin lesion, Erythematous papule, Skin-colored papule, Acrokeratosis, Epidermal thicken...	ORPHA:69745
Crandall Syndrome	Alopecia, Fine hair, Sparse body hair, Brittle hair, Pili torti, Aplasia/Hypoplasia of the eyebrow	ORPHA:202
Localized Epidermolysis Bullosa Simplex	Skin erosion, Erythematous papule, Atrophic scars, Milia, Focal friction-related palmoplantar hyp...	ORPHA:79400
Monilethrix	Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Slow-growing hair, Brittle hair, Abnorma...	ORPHA:573
Wells Syndrome	Skin vesicle, Pruritus	ORPHA:901
Intellectual Developmental Disorder, Fra12A Type	Hyperkeratosis, Erythroderma	OMIM:136630
Ichthyosis, Congenital, Autosomal Recessive 2	Erythema, Palmoplantar keratoderma, Short toe, Congenital ichthyosiform erythroderma, Short finge...	OMIM:242100
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hypopigmented skin patches, Multiple lentigines, Hypermelanotic macule, Hyperkeratosis, Cafe-au-l...	OMIM:145250
Erythema Nodosum, Familial	Erythema, Erythema nodosum	OMIM:132990
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Facial telangiectasia in butterfly midface distribution, Telangiectasia of extensor surfaces, Red...	OMIM:137940
Pemphigus Vulgaris	Atypical scarring of skin, Urticarial plaque, Acantholysis, Recurrent cutaneous abscess formation...	ORPHA:704
Vohwinkel Syndrome, Variant Form	Orthokeratosis, Honeycomb palmoplantar hyperkeratosis, Hypergranulosis, Parakeratosis, Hyperkerat...	OMIM:604117
Ectodermal Dysplasia/Skin Fragility Syndrome	Palmoplantar blistering, Ectodermal dysplasia, Palmoplantar hyperkeratosis, Fragile skin, Scaling...	OMIM:604536
Björnstad Syndrome	Alopecia, Brittle hair	ORPHA:123
Acral Self-Healing Collodion Baby	Erythema, Localized epidermolytic hyperkeratosis, Palmoplantar scaling skin, Lack of skin elasticity	ORPHA:281127
Mastocytosis, Cutaneous	Erythema, Telangiectasia macularis eruptiva perstans, Hypermelanotic macule, Urticaria	OMIM:154800
Acrokeratosis Verruciformis Of Hopf	Hypergranulosis, Skin-colored papule, Punctate palmoplantar hyperkeratosis, Skin plaque, Hyperker...	ORPHA:79151
Familial Keratoacanthoma	Subcutaneous nodule, Papule, Hyperkeratosis, Skin ulcer	ORPHA:493
Hypotrichosis 8	Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ...	OMIM:278150
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Erythematous...	OMIM:173200
Irida Syndrome	Ichthyosis, Pallor, Hyperkeratosis	ORPHA:209981
Pityriasis Rubra Pilaris	Thickened skin, Subungual hyperkeratosis, Palmoplantar keratoderma, Eczematoid dermatitis, Ichthy...	ORPHA:2897
Erythrokeratodermia Variabilis Et Progressiva 1	Patchy palmoplantar hyperkeratosis, Erythroderma, Hypergranulosis, Generalized hyperkeratosis	OMIM:133200
Witkop Syndrome	Abnormal sweat gland morphology, Fine hair, Ridged nail, Concave nail, Hypoplastic fifth toenail,...	OMIM:189500
Subacute Cutaneous Lupus Erythematosus	Discoid lupus rash, Dermal atrophy, Psoriasiform lesion, Malar rash, Hyperkeratosis, Vasculitis i...	ORPHA:163525
Ichthyosis, Hystrix-Like, With Deafness	Palmoplantar keratoderma, Cobblestone-like hyperkeratosis, Ichthyosis, Scarring alopecia of scalp...	OMIM:602540
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Psoriasiform lesion, Erythematous plaque, Superficial dermal perivascular inflammatory infiltrate...	ORPHA:284426
Trichodental Dysplasia	Sparse hair, Slow-growing hair, Fine hair, Brittle hair	OMIM:601453
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma	Honeycomb palmoplantar hyperkeratosis, Ichthyosis, Linear arrays of macular hyperkeratoses in fle...	OMIM:601952
Keratolytic Winter Erythema	Erythema, Palmoplantar hyperhidrosis	OMIM:148370
Copper Deficiency, Familial Benign	Early balding, Curly hair	OMIM:121270
Prolidase Deficiency	Erythema, Palmoplantar keratoderma, Skin ulcer, Dry skin, Crusting erythematous dermatitis, Aplas...	ORPHA:742
Cole Disease	Hyperkeratotic papule, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Hypopigmented m...	OMIM:615522
Carvajal Syndrome	Woolly hair	ORPHA:65282
Keratosis Pilaris Atrophicans	Erythema, Papule, Comedo	OMIM:604093
Hidrotic Ectodermal Dysplasia	Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey...	ORPHA:189
Orthostatic Hypotensive Disorder, Streeten Type	Facial erythema, Bruising susceptibility	OMIM:143850
Psoriasis 14, Pustular	Pustule, Erythema, Psoriasiform dermatitis, Parakeratosis	OMIM:614204
Bjornstad Syndrome	Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Al...	OMIM:262000
Epidermolysis Bullosa, Lethal Acantholytic	Acantholysis, Aplasia cutis congenita, Skin erosion, Neonatal death	OMIM:609638
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Parakeratosis, Subcutaneous nodule, Hyperkeratosis	OMIM:618339
Ectodermal Dysplasia 4, Hair/Nail Type	Abnormal sweat gland morphology, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dys...	OMIM:602032
Ichthyosis Vulgaris	Palmar hyperlinearity, Dry skin, Ichthyosis, Absent keratohyalin granules	OMIM:146700
Focal Palmoplantar And Gingival Keratoderma	Subungual hyperkeratosis, Palmoplantar keratoderma, Focal friction-related palmoplantar hyperkera...	ORPHA:2200
Lymphatic Malformation 4	Hyperkeratosis, Prominent superficial veins	OMIM:615907
Ectodermal Dysplasia 7, Hair/Nail Type	Abnormal sweat gland morphology, Alopecia, Sparse eyebrow, Dystrophic toenail, Sparse eyelashes, ...	OMIM:614929
Keratolytic Winter Erythema	Pustule, Erythema	ORPHA:50943
Chronic Mucocutaneous Candidiasis	Erythema, Skin ulcer, Skin rash, Pruritus, Papule, Hyperkeratosis	ORPHA:1334
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Poor wound healing, Bruising susceptibility, Atrophic scars, Redundant skin, Fragile skin, Dermal...	OMIM:225410
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2	Dermal translucency, Poor wound healing, Bruising susceptibility	OMIM:619120
Chromomycosis	Hyperkeratotic papule, Atypical scarring of skin, Hypopigmented skin patches, Hyperparakeratosis,...	ORPHA:182
Familial Cold Autoinflammatory Syndrome 3	Erythema, Dermatographic urticaria, Cold urticaria, Angioedema, Recurrent otitis media, Onychomyc...	OMIM:614468
Ectodermal Dysplasia-Syndactyly Syndrome 2	Palmoplantar keratoderma, Ectodermal dysplasia, Follicular hyperkeratosis, Congenital bullous ich...	OMIM:613576
Pyoderma Gangrenosum	Skin ulcer, Atrophic scars, Pustule, Skin vesicle, Papule	ORPHA:48104
Keratoderma Hereditarium Mutilans	Papule, Hyperkeratosis, Ichthyosis, Honeycomb palmoplantar hyperkeratosis	ORPHA:494
Ichthyosis Prematurity Syndrome	Dermatographic urticaria, Follicular hyperkeratosis, Erythroderma, Generalized ichthyosis, Pruritus	OMIM:608649
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Palmoplantar keratoderma, Parakeratosis, Palmoplantar hyperkeratosis, H...	OMIM:300918
Mycosis Fungoides	Erythema, Eczematoid dermatitis, Psoriasiform dermatitis, Skin plaque, Pruritus	OMIM:254400
Porokeratosis 7, Multiple Types	Parakeratosis, Porokeratosis	OMIM:614714
Porokeratosis 1, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175800
Bullous Impetigo	Pustule, Erythema, Recurrent bacterial skin infections	ORPHA:36237
Congenital Disorder Of Glycosylation, Type If	Dry skin, Hyperkeratosis, Failure to thrive, Scaling skin	OMIM:609180
Aplasia Cutis Congenita	Erythema, Skin ulcer, Aplasia cutis congenita, Aplasia cutis congenita over the scalp vertex, Con...	ORPHA:1114
Dowling-Degos Disease 4	Epidermal acanthosis, Hypergranulosis	OMIM:615696
Amyloidosis, Primary Localized Cutaneous, 1	Dry skin, Scaling skin	OMIM:105250
Lamellar Ichthyosis	Dry skin, Ichthyosis, Lack of skin elasticity, Erythroderma, Pruritus, Hyperkeratosis	ORPHA:313
Basan Syndrome	Cutaneous syndactyly of toes, Palmoplantar keratoderma, Single transverse palmar crease, Ectoderm...	OMIM:129200
Schopf-Schulz-Passarge Syndrome	Dry skin, Palmoplantar keratoderma, Ectodermal dysplasia, Hyperkeratosis	OMIM:224750
Hennekam-Beemer Syndrome	Erythema, Thickened skin, Skin vesicle, Telangiectasia of the skin, Macule, Pruritus, Subcutaneou...	ORPHA:2135
Onychotrichodysplasia And Neutropenia	Sparse pubic hair, Hypoplastic fingernail, Trichorrhexis nodosa, Curly eyelashes, Concave nail, C...	OMIM:258360
Olmsted Syndrome 2	Palmoplantar keratoderma, Perioral hyperkeratosis, Parakeratosis, Palmoplantar hyperkeratosis, Pr...	OMIM:619208
Immunodeficiency 58	Recurrent upper respiratory tract infections, Recurrent pneumonia, Chronic otitis media, Cold urt...	OMIM:618131
Moynahan Syndrome	Hyperkeratosis	ORPHA:2574
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Palmoplantar keratoderma, Palmoplantar blistering, Hypergranulosis, Orthokeratotic hyperkeratosis...	OMIM:148700
Rothmund-Thomson Syndrome, Type 1	Hyperkeratosis, Cafe-au-lait spot	OMIM:618625
Epidermolysis Bullosa Simplex 2E, With Migratory Circinate Erythema	Erythema migrans	OMIM:609352
Erythema Palmare Hereditarium	Erythema	OMIM:133000
Hailey-Hailey Disease	Erythema	OMIM:169600
Annular Erythema	Erythema	OMIM:106500
Flynn-Aird Syndrome	Dermal atrophy, Hyperkeratosis	OMIM:136300
Erythrokeratodermia Variabilis Et Progressiva 7	Woolly hair, Dystrophic toenail	OMIM:619209
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Fine hair, Abnormal fingernail morphology, Abnormal hair morphology, Abnormal toenail m...	ORPHA:248
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Atrophic scars, Follicular hyperkeratosis, Bruising susceptibility	ORPHA:300179
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Aplasia/Hypoplasia of the skin, Skin vesicle, Dermal atrophy, Papule	ORPHA:257
Neuropathy, Hereditary Sensory, Type If	Hyperkeratosis	OMIM:615632
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Dermal translucency, Poor wound healing, Bruising susceptibility	OMIM:619115
Ichthyosis, Congenital, Autosomal Recessive 9	Orthokeratosis, Hypergranulosis, Erythroderma, Hyperkeratosis, Congenital nonbullous ichthyosifor...	OMIM:615023
Palmoplantar Keratoderma, Punctate Type Ia	Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis	OMIM:148600
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Psoriasiform dermatitis, Ichthyosis, E...	OMIM:615508
Drug-Induced Localized Lipodystrophy	Erythema, Reduced subcutaneous adipose tissue	ORPHA:90157
Ichthyosis, Congenital, Autosomal Recessive 12	White scaling skin	OMIM:617320
Recon Progeroid Syndrome	Progeroid facial appearance, Dry skin, Long thumb, Arachnodactyly, Attached earlobe, Livedo retic...	OMIM:620370
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Folliculitis, Scarring alopecia of scalp, Facial erythema, Palmoplantar keratoderma	OMIM:612843
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Eczematoid dermatitis, Skin ulcer, Generalized abnormality of skin, Skin rash, Skin vesicle, Prur...	ORPHA:2314
Singleton-Merten Syndrome 2	Osteolytic defects of the phalanges of the hand, Psoriasiform lesion, Hyperkeratosis	OMIM:616298
Sydenham Chorea	Erythema, Recurrent streptococcus pneumoniae infections	ORPHA:306731
Palmoplantar Keratoderma, Epidermolytic, 1	Plantar hyperkeratosis, Localized epidermolytic hyperkeratosis, Palmoplantar hyperkeratosis, Palm...	OMIM:144200
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Woolly hair	OMIM:610476
Primary Erythromelalgia	Erythema, Pruritus	ORPHA:90026
Porokeratosis 3, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175900
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Erythema, Thickened skin, Palmoplantar keratoderma, Skin ulcer, Skin fissure	ORPHA:659
Rosaï-Dorfman Disease	Erythema, Subcutaneous nodule, Papule	ORPHA:158014
Seborrhea-Like Dermatitis With Psoriasiform Elements	Seborrheic dermatitis, Hyperkeratosis	OMIM:610227
Bullous Pemphigoid	Erythema, Eczematoid dermatitis, Psoriasiform dermatitis, Macule, Pruritus, Urticaria	ORPHA:703
Interstitial Granulomatous Dermatitis With Arthritis	Inflammatory abnormality of the skin, Erythema, Papule, Pruritus	ORPHA:79099
Fixed Drug Eruption	Erythema, Skin erosion, Generalized abnormality of skin, Erythematous plaque, Crusting erythemato...	ORPHA:293812
Lipoid Proteinosis	Acne, Thickened skin, Pustule, Subcutaneous nodule, Papule, Hyperkeratosis	ORPHA:530
Leopard Syndrome 3	Multiple lentigines, Dry skin, Few cafe-au-lait spots, Hyperkeratosis, Numerous nevi, Epidermal h...	OMIM:613707
Proteus Syndrome	Epidermal nevus, Hyperkeratosis, Nevus	OMIM:176920
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Plantar hyperkeratosis, Pruritus	OMIM:616487
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome	Dermal translucency	ORPHA:529965
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Conjunctival telangiectasia, Dry skin, Palmoplantar keratoderma, Scaling skin	OMIM:618373
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Comedonal acne, Follicular hyperkeratosis	OMIM:615147
Ichthyosis, Congenital, Autosomal Recessive 7	Epidermal acanthosis, Palmoplantar keratoderma, Ichthyosis, Hypergranulosis	OMIM:615022
Corneodermatoosseous Syndrome	Erythema, Thickened skin, Palmoplantar keratoderma, Hearing impairment, Abnormality of the hand, ...	ORPHA:3194
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Sparse eyebrow, Fine hair, Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse hair	OMIM:129490
Porphyria Variegata	Localized skin lesion, Skin erosion, Thickened skin, Milia, Skin vesicle, Cutaneous photosensitivity	ORPHA:79473
Congenital Disorder Of Glycosylation, Type Iq	Eczematoid dermatitis, Dry skin, Ichthyosis, Cutis laxa, Hyperkeratosis	OMIM:612379
Diffuse Cutaneous Mastocytosis	Thickened skin, Dermatographic urticaria, Generalized abnormality of skin, Scaling skin, Darier's...	ORPHA:79456
Odontoonychodermal Dysplasia	Erythema, Orthokeratosis, Hypergranulosis, Dry skin, Palmoplantar erythema, Palmoplantar hyperker...	OMIM:257980
Acute Radiation Syndrome	Telangiectasia, Hyperkeratosis, Skin ulcer, Scaling skin	ORPHA:454831
Kid Syndrome	Sepsis, Palmoplantar keratoderma, Progeroid facial appearance, Patellar hypoplasia, Recurrent can...	ORPHA:477
Hypodontia-Dysplasia Of Nails Syndrome	Ridged fingernail, Thin toenail, Fine hair, Hypoplastic fingernail, Abnormal fingernail morpholog...	ORPHA:2228
Olmsted Syndrome 1	Subungual hyperkeratosis, Orthokeratosis, Palmoplantar keratoderma, Hyperparakeratosis, Periorifi...	OMIM:614594
Autosomal Erythropoietic Protoporphyria	Erythema, Pruritus, Cutaneous photosensitivity, Eczematoid dermatitis	ORPHA:79278
Aicardi-Goutieres Syndrome 5	Dry skin, Scaling skin	OMIM:612952
Pilarowski-Bjornsson Syndrome	Dermal translucency	OMIM:617682
Ichthyosis, Congenital, Autosomal Recessive 1	Congenital ichthyosiform erythroderma, Ichthyosis, Parakeratosis, Palmoplantar hyperkeratosis, Er...	OMIM:242300
Granulomatous Slack Skin	Erythema, Cutis laxa, Redundant skin	ORPHA:33111
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Dry skin, Follicular hyperkeratosis	OMIM:617066
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Erythema, Eczematoid dermatitis, Redundant skin, Seborrheic dermatitis, Palmoplantar hyperkeratos...	OMIM:259100
Choroidal Atrophy-Alopecia Syndrome	Ridged fingernail, Fine hair, Supernumerary nipple, Abnormal fingernail morphology, Bifid nail, T...	ORPHA:1433
C1Q Deficiency 2	Pneumocystis carinii pneumonia, Sepsis, Recurrent otitis media, Facial erythema, Vasculitis in th...	OMIM:620321
Ramon Syndrome	Telangiectasia of the skin, Hyperkeratosis	ORPHA:3019
Lethal Acantholytic Erosive Disorder	Abnormal helix morphology, Camptodactyly of toe, 2-3 finger syndactyly, 4-5 finger syndactyly, Fr...	ORPHA:158687
Hypotrichosis With Juvenile Macular Degeneration	Melanocytic nevus, Hyperkeratosis	ORPHA:1573
Mednik Syndrome	Hyperkeratosis, Ichthyosis	ORPHA:171851
Centrifugal Lipodystrophy	Erythema, Lack of facial subcutaneous fat, Reduced subcutaneous adipose tissue, Scaling skin	ORPHA:90156
Hereditary Sensory And Autonomic Neuropathy Type 1	Poor wound healing, Skin ulcer, Hyperkeratosis, Penetrating foot ulcers	ORPHA:36386
White Sponge Nevus 2	Hyperparakeratosis	OMIM:615785
Tylosis With Esophageal Cancer	Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis	OMIM:148500
Sweet Syndrome	Erythematous papule, Acne inversa, Predominantly dermal neutrophilic infiltrate, Erythematous pla...	ORPHA:3243
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Palmoplantar keratoderma, Poor wound healing, Dry skin, Facial erythema, Flexion contracture of f...	ORPHA:1010
Cutis Laxa, Autosomal Recessive, Type Iiib	Excessive wrinkled skin, Cutis laxa, Prominent superficial veins, Dermal translucency, Thin skin	OMIM:614438
Intellectual Developmental Disorder, Autosomal Dominant 34	Synophrys, Coarse hair, Curly hair	OMIM:616351
Congenital Disorder Of Glycosylation, Type Im	Inflammatory abnormality of the skin, Dry skin, Ichthyosis, Death in infancy, Hyperkeratosis	OMIM:610768
Protoporphyria, Erythropoietic, 1	Erythema, Pruritus, Eczematoid dermatitis	OMIM:177000
Bazex-Dupré-Christol Syndrome	Sparse eyebrow, Coarse hair, Trichorrhexis nodosa, Sparse or absent eyelashes, Pili torti, Sparse...	ORPHA:113
Dyskeratosis Congenita	Palmoplantar keratoderma, Skin ulcer, Hypopigmented skin patches, Premature graying of hair, Skin...	ORPHA:1775
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Multiple rows of eyelashes, Facial hirsutism, Thick eyebrow, Curly eyelashes, Low posterior hairl...	ORPHA:163654
Familial Cold Urticaria	Erythema, Pruritus, Urticaria	ORPHA:47045
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Subungual hyperkeratosis, Orthokeratosis, Sparse lateral eyebrow, Eczematoid dermatitis, Acne inv...	OMIM:617337
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome	Hyperkeratotic papule, Palmoplantar hyperkeratosis, Palmoplantar keratoderma	ORPHA:2698
Cutis Laxa, Autosomal Dominant 3	Dermal translucency, Cutis laxa, Premature skin wrinkling	OMIM:616603
Clouston Syndrome	Alopecia, Sparse eyebrow, Small nail, Fine hair, Alopecia totalis, Brittle hair, Nail dystrophy, ...	OMIM:129500
Amelo-Onycho-Hypohidrotic Syndrome	Dry skin, Hyperkeratosis	ORPHA:1028
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Dry skin, Ichthyosis, Parakeratosis, Acanthosis nigricans, Hyperkeratosis	OMIM:618527
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Fine hair, Fragile nails	ORPHA:500166
Glutamine Deficiency, Congenital	Low-set ears, Erythema, Micromelia, Camptodactyly, Recurrent respiratory infections	OMIM:610015
Lymphatic Malformation 12	Death in adolescence, Hyperkeratosis, Neonatal death	OMIM:620014
Cardiofaciocutaneous Syndrome 4	Alopecia of scalp, Sparse eyelashes, Absent eyebrow, Curly hair, Sparse hair	OMIM:615280
Noonan Syndrome 6	Low posterior hairline, Long eyebrows, Sparse hair, Curly hair	OMIM:613224
Harlequin Ichthyosis	Ichthyosis, Erythroderma, Hyperkeratosis, Congenital ichthyosiform erythroderma	ORPHA:457
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Sparse hair, Fine hair	ORPHA:1174
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Alopecia, Sparse eyebrow, Dystrophic toenail, Fine hair, Dystrophic fingernails, Sparse scalp hair	ORPHA:1882
Leopard Syndrome 2	Curly hair	OMIM:611554
Ectodermal Dysplasia-Syndactyly Syndrome 1	Alopecia, Coarse hair, Small nail, Hypoplastic toenails, Sparse eyelashes, Patchy alopecia, Pili ...	OMIM:613573
X-Linked Dominant Chondrodysplasia Punctata	Low-set ears, Ichthyosis, Sensorineural hearing impairment, Talipes equinovarus, Scaling skin, Ab...	ORPHA:35173
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Recurrent upper respiratory tract infections, Recurrent viral infections, Failure to thrive, Recu...	ORPHA:169154
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Severe varicella zoster infection, Recurrent viral infections, Failure to thrive in infancy, Recu...	OMIM:606367
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Erythema, Orthokeratosis, Finger syndactyly, Hearing impairment, Congenital ichthyosiform erythro...	OMIM:308050
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Telangiectasia, Telangiectasia of the skin, Hyperkeratosis	ORPHA:79279
Noonan Syndrome 5	Sparse eyebrow, Small nail, Fine hair, Curly hair	OMIM:611553
Noonan Syndrome 9	Sparse eyebrow, Curly hair	OMIM:616559
Ectodermal Dysplasia-Skin Fragility Syndrome	Recurrent pneumonia, Sepsis, Palmoplantar keratoderma, Failure to thrive, Follicular hyperkeratos...	ORPHA:158668
Pachyonychia Congenita 1	Follicular hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:167200
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Camptodactyly of finger, Hidrotic ectodermal dysplasia, Joint contracture of the 5th finger, Sens...	ORPHA:1883
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the skin, Telangiectasia of the oral mucosa, Angiokeratoma corporis diffusum, L...	ORPHA:79280
Cardiofaciocutaneous Syndrome 3	Curly hair	OMIM:615279
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse	Plantar hyperkeratosis, Epidermal acanthosis, Palmoplantar keratoderma	OMIM:615735
Peeling Skin Syndrome 1	Palmoplantar hyperhidrosis, Scaling skin	OMIM:270300
Meige Disease	Skin erosion, Atypical scarring of skin, Skin ulcer, Cobblestone-like hyperkeratosis, Recurrent s...	ORPHA:90186
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Synophrys, Sparse eyebrow, Sparse hair, Curly hair	OMIM:620075
Xeroderma Pigmentosum	Erythema, Thickened skin, Hypopigmented skin patches, Dry skin, Dermal atrophy, Melanocytic nevus...	ORPHA:910
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Dermal translucency, Atypical scarring of skin, Atrophic scars, Bruising susceptibility	OMIM:618343
Congenital Lethal Erythroderma	Dry skin, Congenital exfoliative erythroderma, Ichthyosis, Death in infancy, Urticaria	ORPHA:1954
Polyarteritis Nodosa	Erythema, Cutis marmorata, Weight loss, Skin ulcer	ORPHA:767
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Dry skin, Follicular hyperkeratosis	ORPHA:486815
Hereditary Acrokeratotic Poikiloderma	Erythema, Thin skin, Skin ulcer, Hypopigmented skin patches, Eczematoid dermatitis, Ichthyosis, P...	ORPHA:2907
Ectodermal Dysplasia/Short Stature Syndrome	Epidermal acanthosis, Palmoplantar keratoderma, Hyperkeratosis, Sensorineural hearing impairment	OMIM:616029
Neonatal Lupus Erythematosus	Malar rash, Erythematous plaque, Skin rash, Parakeratosis, Hyperkeratosis, Maculopapular exanthem...	ORPHA:398124
Naxos Disease	Subungual hyperkeratosis, Palmoplantar keratoderma, Diffuse palmoplantar hyperkeratosis, Fragile ...	OMIM:601214
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Dermal translucency, Cutis laxa, Atrophic scars	OMIM:615349
Trichothiodystrophy 2, Photosensitive	Tiger tail banding, Coarse hair	OMIM:616390
De Barsy Syndrome	Progeroid facial appearance, Prominent veins on trunk, Excessive wrinkled skin, Cutis laxa, Derma...	ORPHA:2962
Chikungunya	Erythema, Petechiae, Skin rash, Crusting erythematous dermatitis, Skin vesicle, Macule, Erythema ...	ORPHA:324625
Netherton Syndrome	Eczematoid dermatitis, Angioedema, Parakeratosis, Erythroderma, Recurrent skin infections, Congen...	OMIM:256500
Pili Torti-Onychodysplasia Syndrome	Alopecia universalis, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dystrophy, Abs...	ORPHA:2890
Immunodeficiency 23	Erythema, Conductive hearing impairment, Chronic mucocutaneous candidiasis, Recurrent respiratory...	OMIM:615816
Fountain Syndrome	Erythema, Short distal phalanx of finger, Coarse metaphyseal trabecularization, Cutis marmorata, ...	ORPHA:3219
Braddock-Carey Syndrome 1	Sparse hair, Curly hair	OMIM:619980
Mycetoma	Cutaneous cyst, Cobblestone-like hyperkeratosis, Prominent superficial veins, Subcutaneous nodule...	ORPHA:2583
Pachyonychia Congenita	Cutaneous cyst, Palmoplantar keratoderma, Epidermoid cyst, Linear arrays of macular hyperkeratose...	ORPHA:2309
Myoectodermal Gonadal Dysgenesis Syndrome	Low-set ears, Bifid distal phalanx of toe, Dry skin, Cutaneous finger syndactyly, Limited elbow e...	OMIM:618419
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Follicular hyperkeratosis	OMIM:277350
Hawkinsinuria	Sparse hair, Fine hair	ORPHA:2118
Xeroderma Pigmentosum, Complementation Group F	Erythema, Cutaneous photosensitivity, Hearing impairment, Decreased body weight	OMIM:278760
Inflammatory Skin And Bowel Disease, Neonatal, 1	Pustule, Erythroderma, Perioral erythema, Perianal erythema	OMIM:614328
Syndromic Recessive X-Linked Ichthyosis	Hyperkeratosis, Ichthyosis	ORPHA:281090
Linear Verrucous Nevus Syndrome	Hyperkeratosis, Verrucous papule	ORPHA:2611
Ectodermal Dysplasia 13, Hair/Tooth Type	Sparse eyelashes, Thin eyebrow, Low anterior hairline, Brittle hair	OMIM:617392
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Erythema, Palmoplantar keratoderma, Generalized abnormality of skin, Atrophic scars, Milia, Fragi...	ORPHA:79396
Palmoplantar Carcinoma, Multiple Self-Healing	Palmoplantar keratoderma, Parakeratosis, Ectodermal dysplasia, Follicular hyperkeratosis, Finger ...	OMIM:615225
Immunodeficiency, Common Variable, 8, With Autoimmunity	Recurrent pneumonia, Sepsis, Failure to thrive, Recurrent respiratory infections, Recurrent otiti...	OMIM:614700
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Dermal translucency, Premature graying of hair, Gastrointestinal telangiectasia, Retinal telangie...	OMIM:612199
Complex Regional Pain Syndrome	Erythema, Dry skin, Edema of the upper limbs	ORPHA:83452
Graft Versus Host Disease	Failure to thrive, Dupuytren contracture, Recurrent gastroenteritis, Limited elbow movement, Scal...	ORPHA:39812
Restrictive Dermopathy	Skin erosion, Generalized hyperkeratosis, Dermal atrophy, Scaling skin, Dermal translucency, Epid...	ORPHA:1662
Hidrotic Ectodermal Dysplasia, Halal Type	Multiple cafe-au-lait spots, Follicular hyperkeratosis	ORPHA:1809
Noonan Syndrome 8	Low-set ears, Failure to thrive, Large for gestational age, Palmoplantar cutis laxa, Hyperkeratosis	OMIM:615355
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Erythema, Angioedema	ORPHA:100057
Sting-Associated Vasculopathy, Infantile-Onset	Erythema, Failure to thrive, Recurrent respiratory infections, Cutis marmorata, Telangiectasia, L...	OMIM:615934
Riddle Syndrome	Erythema, Recurrent pneumonia, Recurrent viral infections, Otitis media, Recurrent sinusitis, Tel...	ORPHA:420741
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Orthokeratosis, Dry skin, Ichthyosis, Parakeratosis, Jaundice, Pruritus	OMIM:607626
Bacterial Toxic-Shock Syndrome	Sepsis, Severe viral infection, Recurrent urinary tract infections, Ecchymosis, Infectious enceph...	ORPHA:36234
Glycosylphosphatidylinositol Biosynthesis Defect 25	Sparse hair, Coarse hair	OMIM:619985
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Dermal translucency	ORPHA:541423
Subcorneal Pustular Dermatosis	Pustule, Erythema, Pruritus	ORPHA:48377
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Hyperkeratosis, Death in childhood	OMIM:301108
Mpdu1-Cdg	Ichthyosis, Scaling skin	ORPHA:79323
Donohue Syndrome	Low-set ears, Severe failure to thrive, Acanthosis nigricans, Large hands, Recurrent infections, ...	OMIM:246200
Warburg-Cinotti Syndrome	Low-set ears, Erythema, Hypoplasia of the ear cartilage, Poor wound healing, Atresia of the exter...	OMIM:618175
Kindler Epidermolysis Bullosa	Erythema, Atypical scarring of skin, Palmoplantar keratoderma, Milia, Aplasia/Hypoplasia of the s...	ORPHA:2908
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Abnormal helix morphology, Synostosis of carpal bones, Finger syndactyly, Low-set, posteriorly ro...	ORPHA:1005
Costello Syndrome	Ulnar deviation of finger, Failure to thrive in infancy, Low-set, posteriorly rotated ears, Large...	ORPHA:3071
Neutrophilic Dermatosis, Acute Febrile	Pyoderma gangrenosum, Erythema, Cystic acne, Acne inversa	OMIM:608068
Noonan Syndrome 7	Low posterior hairline, Curly hair	OMIM:613706
Toxic Epidermal Necrolysis	Erythema, Acantholysis, Skin ulcer, Macule	ORPHA:537
Herpes Simplex Virus Stromal Keratitis	Herpetiform vesicles	ORPHA:137599
Amaurosis-Hypertrichosis Syndrome	Abnormal eyelash morphology, Coarse hair, Thick eyebrow, Synophrys	ORPHA:1021
Snakebite Envenomation	Erythema, Localized skin lesion, Angioedema, Ecchymosis	ORPHA:449285
Ectodermal Dysplasia-Blindness Syndrome	Skin ulcer, Hearing impairment, Protruding ear, Recurrent respiratory infections, Hyperkeratosis	ORPHA:1806
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Low-set ears, Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality of the calcaneus, Metap...	ORPHA:163966
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Dermal translucency, Preauricular pit, Cafe-au-lait spot, Thin skin	OMIM:617506
Smith-Kingsmore Syndrome	Curly hair	OMIM:616638
Autoinflammation With Arthritis And Dyskeratosis	Failure to thrive, Dry skin, Palmoplantar hyperkeratosis, Follicular hyperkeratosis, Epidermal ac...	OMIM:617388
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Dermal translucency, Atrophic scars, Bruising susceptibility, Thin skin	ORPHA:536467
Giant Axonal Neuropathy 1, Autosomal Recessive	Curly hair	OMIM:256850
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Perioral erythema, Failure to thrive, Recurrent candida infections, Dry skin, Perianal erythema	OMIM:201100
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Recurrent pneumonia, Failure to thrive in infancy, Cutis marmorata, Hyperkeratosis, Clubbing	OMIM:301220
Poikiloderma With Neutropenia	Palmoplantar keratoderma, Dermal atrophy, Skin rash, Telangiectasia, Plantar hyperkeratosis, Hype...	OMIM:604173
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Erythema, Bronchiolitis, Recurrent sinopulmonary infections	OMIM:614878
Immunoglobulin A Vasculitis	Erythema, Skin ulcer, Vascular skin abnormality, Angioedema, Bruising susceptibility, Skin rash, ...	ORPHA:761
Trichothiodystrophy 1, Photosensitive	Dry skin, Telangiectasia, Protruding ear, Hyperkeratosis, Congenital nonbullous ichthyosiform ery...	OMIM:601675
Spinocerebellar Ataxia 34	Erythroderma, Epidermal hyperkeratosis	OMIM:133190
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Low posterior hairline, Highly arched eyebrow, Thick eyebrow, Curly hair	OMIM:617360
Milroy Disease	Hyperkeratosis, Erysipelas	ORPHA:79452
Stevens-Johnson Syndrome	Erythema, Acantholysis, Macule	ORPHA:36426
Trichothiodystrophy 4, Nonphotosensitive	Small nail, Trichorrhexis nodosa, Concave nail, Nail dystrophy, Sparse eyelashes, Nail dysplasia,...	OMIM:234050
Hyperimmunoglobulinemia D With Periodic Fever	Erythema, Purpura, Papule, Acrocyanosis, Urticaria	ORPHA:343
Barber-Say Syndrome	Premature skin wrinkling, Dry skin, Dermal atrophy, Redundant skin, Dermal translucency	OMIM:209885
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Curly hair	OMIM:300986
Kanzaki Disease	Dry skin, Petechiae, Telangiectasia of the oral mucosa, Angiokeratoma corporis diffusum, Lip tela...	OMIM:609242
Dermatomyositis	Erythema, Shawl sign, Skin ulcer, V-sign, Heliotrope rash, Dry skin, Cutaneous photosensitivity, ...	ORPHA:221
Ullrich Congenital Muscular Dystrophy 1A	Failure to thrive, Slender build, Increased laxity of fingers, Protruding ear, Talipes equinovaru...	OMIM:254090
Mednik Syndrome	Erythema, Ichthyosis, Death in infancy, Death in childhood, Neonatal death	OMIM:609313
Incontinentia Pigmenti	Erythema, Deviation of finger, Finger syndactyly, Skin ulcer, Camptodactyly of finger, Abnormal h...	ORPHA:464
Chops Syndrome	Coarse hair, Long eyelashes, Thick eyebrow, Thick hair, Curly hair, Synophrys	OMIM:616368
Ritscher-Schinzel Syndrome 4	Curly hair	OMIM:619435
Congenital Disorder Of Glycosylation, Type Iil	Failure to thrive, Dry skin, Postaxial polydactyly, Recurrent infections, Hyperkeratosis	OMIM:614576
Noonan Syndrome 4	Sparse eyebrow, High anterior hairline, Curly hair	OMIM:610733
Trichorhinophalangeal Syndrome, Type Iii	Cone-shaped epiphyses of the middle phalanges of the hand, Short finger, Avascular necrosis of th...	OMIM:190351
Incontinentia Pigmenti	Erythema, Maculopapular exanthema, Pallor, Hyperkeratosis	OMIM:308300
Huriez Syndrome	Epidermal acanthosis, Congenital palmoplantar hyperkeratosis, Tapered finger	OMIM:181600
Hypohidrotic Ectodermal Dysplasia	Dry skin, Hyperkeratosis, Eczematoid dermatitis, Thin skin	ORPHA:238468
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Curly hair	ORPHA:457485
Noonan Syndrome 14	Low posterior hairline, Sparse eyebrow, Sparse hair, Curly hair	OMIM:619745
Drug Reaction With Eosinophilia And Systemic Symptoms	Erythema, Angioedema, Skin rash, Pustule, Erythroderma, Macule	ORPHA:139402
Chime Syndrome	Erythema, Aplasia/Hypoplasia of the phalanges of the toes, Clubbing of toes, Skin ulcer, Hearing ...	ORPHA:3474
Punctate Palmoplantar Keratoderma Type 1	Hyperkeratotic papule, Adenocarcinoma of the colon, Orthokeratosis, Palmoplantar keratoderma, Pan...	ORPHA:79501
Hereditary Mucoepithelial Dysplasia	Hyperkeratosis	ORPHA:1839
Rothmund-Thomson Syndrome Type 2	Erythema, Small for gestational age, Patellar hypoplasia, Porokeratosis, Metaphyseal sclerosis, A...	ORPHA:221016
Neonatal Inflammatory Skin And Bowel Disease	Erythema, Generalized abnormality of skin, Recurrent gastroenteritis, Scaling skin, Recurrent bac...	ORPHA:294023
Werner Syndrome	Subcutaneous calcification, Skin ulcer, Premature graying of hair, Lack of skin elasticity, Aplas...	ORPHA:902
Microscopic Polyangiitis	Erythema, Skin ulcer, Subcutaneous hemorrhage, Cutis marmorata, Skin rash, Subcutaneous nodule	ORPHA:727
Sialidosis Type 1	Hyperkeratosis, Vascular skin abnormality	ORPHA:812
Aicardi-Goutieres Syndrome 1	Erythema, Petechiae, Chilblains, Purpura, Prolonged neonatal jaundice, Acrocyanosis	OMIM:225750
Tyrosinemia Type 2	Palmoplantar keratoderma, Hyperkeratosis	ORPHA:28378
Oculodentodigital Dysplasia	Fine hair, Abnormal fingernail morphology, Curly hair, Slow-growing hair, Brittle hair, Sparse ha...	ORPHA:2710
Pachyonychia Congenita 3	Palmoplantar keratoderma, Chapped lip, Follicular hyperkeratosis, Palmar hyperkeratosis, Plantar ...	OMIM:615726
Pituitary Adenoma 4, Acth-Secreting	Poor wound healing, Bruising susceptibility, Striae distensae, Obesity, Ecchymosis, Facial erythe...	OMIM:219090
Porphyria Cutanea Tarda	Poor wound healing, Fragile skin, Scaling skin, Cutaneous photosensitivity, Recurrent bacterial s...	ORPHA:101330
Acrodermatitis Enteropathica	Erythema, Skin ulcer, Failure to thrive, Generalized abnormality of skin, Dry skin, Weight loss	ORPHA:37
Localized Scleroderma	Erythema, Localized skin lesion, Thickened skin, Skin erosion, Hypopigmented skin patches, Erythe...	ORPHA:90289
Familial Tumoral Calcinosis	Erythema, Hypopigmented skin patches, Skin rash, Periarticular subcutaneous nodules, Subcutaneous...	ORPHA:53715
Fontaine Progeroid Syndrome	Premature skin wrinkling, Redundant skin, Reduced subcutaneous adipose tissue, Death in infancy, ...	OMIM:612289
Tricho-Retino-Dento-Digital Syndrome	Sparse hair, Uncombable hair	ORPHA:1264
Rheumatic Fever	Erythema, Subcutaneous nodule, Pallor, Macule	ORPHA:3099
Arthrogryposis And Ectodermal Dysplasia	Dry skin, Atypical scarring of skin, Ectodermal dysplasia, Hyperkeratosis	OMIM:601701
Lig4 Syndrome	Erythema, Telangiectasia of the skin, Cutaneous photosensitivity, Clinodactyly of the 5th finger	ORPHA:99812
Trichohepatoenteric Syndrome 1	Sparse hair, Fine hair, Trichorrhexis nodosa, Curly hair, Brittle hair, Woolly hair	OMIM:222470
Trichohepatoneurodevelopmental Syndrome	Thoracic hypertrichosis, Coarse hair, Long eyelashes, Hypoplastic nipples, Curly hair, Woolly hai...	OMIM:618268
Chronic Graft Versus Host Disease	Erythema, Thickened skin, Poor wound healing, Skin ulcer, Morphea, Skin vesicle, Intermittent gen...	ORPHA:99921
Nodular Non-Suppurative Panniculitis	Aplasia/Hypoplasia of the skin, Erythema, Subcutaneous nodule	ORPHA:33577
Trichohepatoenteric Syndrome 2	Sparse hair, Trichorrhexis nodosa, Uncombable hair, Brittle hair, Woolly hair	OMIM:614602
Bazex-Dupre-Christol Syndrome	Coarse hair, Trichorrhexis nodosa, Pili torti, Sparse hair, Trichoepithelioma	OMIM:301845
Gaucher Disease, Perinatal Lethal	Ichthyosis, Petechiae, Neonatal death, Hyperkeratosis, Purpura, Congenital nonbullous ichthyosifo...	OMIM:608013
Epidermodysplasia Verruciformis, Susceptibility To, 4	Facial erythema	OMIM:618307
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Curly hair	ORPHA:85184
Cardiofaciocutaneous Syndrome 1	Absent eyelashes, Low posterior hairline, Absent eyebrow, Slow-growing hair, Curly hair, Sparse hair	OMIM:115150
Fibromuscular Dysplasia, Multifocal	Dermal translucency, Atrophic scars, Striae distensae	OMIM:619329
Craniofrontonasal Syndrome	Breast hypoplasia, Ridged nail, Low posterior hairline, Unilateral breast hypoplasia, Curly hair,...	OMIM:304110
Inflammatory Skin And Bowel Disease, Neonatal, 2	Recurrent pneumonia, Epidermal acanthosis, Failure to thrive, Recurrent bronchiolitis	OMIM:616069
Ifap Syndrome 2	Ichthyosis follicularis, Perioral erythema	OMIM:619016
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome	Erythema, Congenital nonbullous ichthyosiform erythroderma, Dry skin, Microtia	OMIM:620510
Loeys-Dietz Syndrome 6	Dermal translucency, Striae distensae, Bruising susceptibility	OMIM:619656
Autosomal Dominant Cutis Laxa	Premature skin wrinkling, Redundant skin, Redundant neck skin, Cutis laxa, Dermal translucency, P...	ORPHA:90348
Rothmund-Thomson Syndrome Type 1	Small for gestational age, Patellar hypoplasia, Porokeratosis, Metaphyseal sclerosis, Abnormality...	ORPHA:221008
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Woolly hair	OMIM:611528
Juvenile Dermatomyositis	Erythema, Skin ulcer, Dry skin, Skin rash, Telangiectasia of the skin, Pruritus, Cutaneous photos...	ORPHA:93672
Leukocyte Adhesion Deficiency Type Ii	Skin vesicle	ORPHA:99843
Bloom Syndrome	Facial telangiectasia in butterfly midface distribution, Recurrent upper respiratory tract infect...	OMIM:210900
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Ichthyosis follicularis, Subungual hyperkeratosis, Recurrent upper respiratory tract infections, ...	OMIM:308205
Pachyonychia Congenita 2	Subungual hyperkeratosis, Folliculitis, Palmoplantar hyperkeratosis, Epidermoid cyst	OMIM:167210
Kcnq2-Related Epileptic Encephalopathy	Facial erythema, Pallor	ORPHA:439218
Odontotrichoungual-Digital-Palmar Syndrome	Abnormality of hair texture, Nail dysplasia, Nail dystrophy	OMIM:601957
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Pustule, Hyperkeratosis, Skin rash	OMIM:612852
Cardiofaciocutaneous Syndrome	Palmoplantar keratoderma, Failure to thrive in infancy, Dry skin, Low-set, posteriorly rotated ea...	ORPHA:1340
Oculocutaneous Albinism Type 1A	Thickened skin, Hyperkeratosis	ORPHA:79431
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Hyperkeratosis, Nevus	OMIM:620189
Cutis Laxa, Autosomal Recessive, Type Ib	Dermal translucency, Cutis laxa, Death in childhood, Neonatal death	OMIM:614437
Focal Dermal Hypoplasia	Low-set ears, Erythema, Toe syndactyly, Coarse metaphyseal trabecularization, Finger syndactyly, ...	ORPHA:2092
Fucosidosis	Acrocyanosis, Vascular skin abnormality, Generalized hyperkeratosis	ORPHA:349
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Erythema, Failure to thrive, Ectrodactyly, Camptodactyly of finger, Oligodactyly, Recurrent respi...	ORPHA:2273
Acquired Hypertrichosis Lanuginosa	Generalized hirsutism, Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair	ORPHA:2221
Congenital Syphilis	Hearing impairment, Palmoplantar scaling skin, Petechiae, Tibial bowing, Prolonged neonatal jaund...	ORPHA:499009
Rat-Bite Fever	Meningitis, Sepsis, Weight loss, Scaling skin	ORPHA:31205
Parkes Weber Syndrome	Abnormal femoral metaphysis morphology, Skin ulcer, Hypertrophy of the upper limb, Prominent supe...	ORPHA:90307
Fg Syndrome 3	Sparse hair, Frontal upsweep of hair, Fine hair	OMIM:300406
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Trichiasis, Sparse eyebrow, Nail dystrophy, Sparse eyelashes, Squamous cell carcinoma, Hypohidros...	OMIM:148210
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Low-set ears, Erythema, Hand clenching, Talipes equinovarus	OMIM:614653
Premature Aging Syndrome, Penttinen Type	Thickened skin, Keloids, Dermal atrophy, Palmoplantar hyperkeratosis, Prominent superficial veins...	OMIM:601812
Kikuchi-Fujimoto Disease	Erythema, Skin erosion, Skin nodule, Malar rash, Skin rash, Pustule, Macule, Vasculitis in the sk...	ORPHA:50918
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Skin rash, Erythema, Death in childhood	OMIM:618321
Wiedemann-Rautenstrauch Syndrome	Increased subcutaneous truncal adipose tissue, Progeroid facial appearance, Premature skin wrinkl...	ORPHA:3455
Craniofrontonasal Dysplasia	Ridged fingernail, Low posterior hairline, Abnormality of hair texture, Woolly hair, Widow's peak	ORPHA:1520
Sunct Syndrome	Facial erythema, Flushing	ORPHA:57145
Restrictive Dermopathy 1	Low-set ears, Prominent superficial blood vessels, Scaling skin, Osteolytic defects of the distal...	OMIM:275210
Epidermodysplasia Verruciformis, Susceptibility To, 3	Palmar pits, Epidermal acanthosis	OMIM:618267
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	Sparse hair, Absent nipple, Brittle hair, Absent hair	OMIM:614940
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Loose anagen hair, Long eyelashes, Curly hair, Sparse hair, Sparse scalp hair	OMIM:607721
Proteasome-Associated Autoinflammatory Syndrome 1	Erythema, Recurrent upper respiratory tract infections, Finger swelling, Progeroid facial appeara...	OMIM:256040
Trichothiodystrophy 8, Nonphotosensitive	Trichorrhexis nodosa, Woolly hair, Sparse eyebrow, Sparse hair	OMIM:619691
Progeroid Syndrome, Petty Type	Abnormal hair morphology, Thick eyebrow, Long eyelashes in irregular rows, Generalized hirsutism,...	ORPHA:2963
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Low-set ears, Erythema, Slender finger, Failure to thrive, Elbow flexion contracture, Dry skin, H...	OMIM:619503
Tempi Syndrome	Telangiectasia, Facial erythema	ORPHA:284227
Weaver Syndrome	Fine hair, Abnormal fingernail morphology, Hypoplastic toenails, Thin nail, Deep-set nails	ORPHA:3447
Osteopenia-Intellectual Disability-Sparse Hair Syndrome	Sparse scalp hair, Fine hair	ORPHA:2324
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Thickened skin, Skin ulcer, Dry skin, Protruding ear, Scaling skin	ORPHA:2526
Bethlem Muscular Dystrophy	Cigarette-paper scars, Hyperkeratosis	ORPHA:610
Noonan Syndrome 10	Sparse eyebrow, Curly hair	OMIM:616564
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Woolly hair	OMIM:607450
Adult-Onset Still Disease	Erythema, Pruritus, Skin rash	ORPHA:829
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Highly arched eyebrow, Abnormal fingernail morphology, Facial hirsutism, Long eyelashes, Thick ey...	ORPHA:444077
Trichothiodystrophy 5, Nonphotosensitive	Sparse eyebrow, Reduced hair sulfur content, Tiger tail banding, Slow-growing hair, Brittle hair,...	OMIM:300953
Ehlers-Danlos Syndrome, Vascular Type	Cigarette-paper scars, Bruising susceptibility, Molluscoid pseudotumors, Ecchymosis, Fragile skin...	OMIM:130050
Ramon Syndrome	Telangiectasia, Angiokeratoma, Hyperkeratosis	OMIM:266270
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Sclerodactyly	OMIM:610644
Hemihyperplasia-Multiple Lipomatosis Syndrome	Seborrheic dermatitis, Telangiectasia of the skin, Nevus, Hyperparakeratosis	ORPHA:276280
Pearson Marrow-Pancreas Syndrome	Erythema, Failure to thrive, Pallor, Recurrent infections, Small for gestational age	OMIM:557000
Liver Disease, Severe Congenital	Dermal translucency, Jaundice, Eczematoid dermatitis, Blue nevus	OMIM:619991
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	High anterior hairline, Horizontal eyebrow, Sparse lateral eyebrow, Long eyelashes, Thick eyebrow...	OMIM:619950
Angioedema, Hereditary, 1	Erythema, Angioedema	OMIM:106100
Proteasome-Associated Autoinflammatory Syndrome 4	Erythema	OMIM:619183
De Sanctis-Cacchione Syndrome	Dermal atrophy, Telangiectasia, Parakeratosis, Hypermelanotic macule, Cutaneous photosensitivity	OMIM:278800
Vulto-Van Silfhout-De Vries Syndrome	Horizontal eyebrow, Widow's peak, Fine hair	OMIM:615828
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Long eyelashes, Fine hair, High anterior hairline	ORPHA:231137
Leprosy	Urticarial plaque, Hypopigmented macule, Penetrating foot ulcers, Acral ulceration, Verrucous pap...	ORPHA:548
Loeys-Dietz Syndrome 1	Striae distensae, Dermal translucency	OMIM:609192
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Coarse hair, Nail dystrophy, Brittle hair	ORPHA:75389
Hermansky-Pudlak Syndrome	Thickened skin, Melanocytic nevus, Hyperkeratosis, Bruising susceptibility	ORPHA:79430
Chand Syndrome	Nail dysplasia, Curly hair	ORPHA:1401
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Erythema, Erysipelas, Bruising susceptibility, Skin rash, Macule, Hypermelanotic macule	ORPHA:32960
Vascular Ehlers-Danlos Syndrome	Cigarette-paper scars, Bruising susceptibility, Melanocytic nevus, Redundant skin, Excessive wrin...	ORPHA:286
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Alopecia, Brittle hair	ORPHA:50812
Loeys-Dietz Syndrome 2	Striae distensae, Dermal translucency	OMIM:610168
Adult Syndrome	Alopecia, Toenail dysplasia, Absent nipple, Fine hair, Breast hypoplasia, Fingernail dysplasia, H...	ORPHA:978
Eec Syndrome	Toe syndactyly, Finger syndactyly, Ectrodactyly, Dry skin, Sensorineural hearing impairment, Apla...	ORPHA:1896
Bone Marrow Failure Syndrome 3	Cupped ear, Failure to thrive, Hearing impairment, Metaphyseal dysplasia, Recurrent infections, H...	OMIM:617052
Trichothiodystrophy 6, Nonphotosensitive	Tiger tail banding, Slow-growing hair, Brittle hair	OMIM:616943
Noonan Syndrome 2	Low posterior hairline, Sparse eyebrow, Curly hair	OMIM:605275
Behcet Syndrome	Erythema, Erythema nodosum	OMIM:109650
Netherton Syndrome	Sparse eyebrow, Fine hair, Abnormal hair morphology, Trichorrhexis nodosa, Sparse eyelashes, Spar...	ORPHA:634
Rapp-Hodgkin Syndrome	Sparse hair, Sparse eyebrow, Small nail, Decreased number of sweat glands, Supernumerary nipple, ...	OMIM:129400
Acrogeria	Fine hair	ORPHA:2500
Rodrigues Blindness	Sparse hair, Fine hair	OMIM:268320
Giant Axonal Neuropathy	Woolly hair, Pili canaliculi	ORPHA:643
Loeys-Dietz Syndrome 3	Dermal translucency, Atrophic scars, Striae distensae, Bruising susceptibility	OMIM:613795
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Sparse eyebrow, Dry hair, Sparse eyelashes, Nail dysplasia, Pili torti, Brittle hair, Progressive...	OMIM:225060
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Atypical scarring of skin, Inflammatory abnormality of the skin, Skin ulcer, Generalized abnormal...	ORPHA:95455
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Abnormal hair morphology, Uncombable hair, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:3082
Baller-Gerold Syndrome	Low-set ears, Erythema, Carpal synostosis, Patellar aplasia, Limited elbow movement, Aphalangy of...	OMIM:218600
Chondrodysplasia Punctata, Autosomal Dominant	Hyperkeratosis with erythema	OMIM:118650
Sulfite Oxidase Deficiency, Isolated	Fine hair	OMIM:272300
Kawasaki Disease	Palmar edema, Palmoplantar erythema, Meningitis, Recurrent pharyngitis, Jaundice, Scaling skin on...	ORPHA:2331
Melas	Erythema, Failure to thrive, Sensorineural hearing impairment	ORPHA:550
Trichodermodysplasia-Dental Alterations Syndrome	Sparse lateral eyebrow, Fine hair, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes,...	ORPHA:3353
2Q32Q33 Microdeletion Syndrome	Sparse hair, Fine hair	ORPHA:251019
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Poor wound healing, Bruising susceptibility, Molluscoid pseudotumors, Excessive wrinkled skin, Pa...	OMIM:225400
Blau Syndrome	Erythema, Skin ulcer, Dry skin, Ichthyosis, Skin rash, Erythema nodosum, Papule	ORPHA:90340
Urachal Cyst	Erythema, Severe infection	ORPHA:488
Leprechaunism	Low-set ears, Thickened skin, Failure to thrive, Reduced subcutaneous adipose tissue, Decreased b...	ORPHA:508
Zttk Syndrome	Broad eyebrow, Sparse eyebrow, Curly hair	OMIM:617140
Costello Syndrome	Curly hair, Concave nail, Thin nail, Deep-set nails, Sparse hair, Fragile nails	OMIM:218040
Brachycephaly, Trichomegaly, And Developmental Delay	Highly arched eyebrow, Long eyelashes, Thick eyebrow, Brittle hair, Synophrys	OMIM:617412
Menkes Disease	Alopecia, Sparse hair, Brittle hair	OMIM:309400
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Low-set ears, Short distal phalanx of finger, Broad thumb, Prominent fingertip pads, Broad hallux...	OMIM:612474
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Hyperkeratosis	OMIM:615510
Tonne-Kalscheuer Syndrome	Small nail, Fine hair, Concave nail	OMIM:300978
Distal Duplication 6P	Abnormal eyelash morphology, Fine hair, Abnormal hair quantity	ORPHA:1745
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Atrophic scars, Cutis laxa, Follicular hyperkeratosis, Bruising susceptibility	OMIM:614557
Cowden Syndrome	Palmoplantar keratoderma, Hypopigmented skin patches, Generalized hyperkeratosis, Melanocytic nev...	ORPHA:201
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Erythema, Recurrent pneumonia, Recurrent upper respiratory tract infections, Chronic mucocutaneou...	OMIM:147060
Psoriasis-Related Juvenile Idiopathic Arthritis	Toe dactylitis, Abnormality of the wrist, Psoriasiform lesion, Finger dactylitis	ORPHA:85436
Mucopolysaccharidosis, Type Iiib	Hirsutism, Coarse hair, Synophrys	OMIM:252920
Cutis Laxa, Autosomal Recessive, Type Iia	Abnormality of hair texture, Coarse hair, Brittle hair	OMIM:219200
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Enlarged metaphyses, Low-set ears, Elbow dislocation, Dry skin, Bowing of the long bones, Large h...	OMIM:210710
Mucopolysaccharidosis, Type Iiic	Hirsutism, Hypertrichosis, Coarse hair, Synophrys	OMIM:252930
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	High anterior hairline, Dry hair, Coarse hair, Nail dystrophy, Woolly scalp hair, Onycholysis, Sp...	OMIM:620519
Mucopolysaccharidosis, Type Iiia	Hirsutism, Coarse hair, Synophrys	OMIM:252900
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Fine hair	ORPHA:3236
Mucoepithelial Dysplasia, Hereditary	Follicular hyperkeratosis, Chronic mucocutaneous candidiasis	OMIM:158310
Reactive Arthritis	Pustule, Hyperkeratosis	ORPHA:29207
Hall-Riggs Syndrome	Coarse hair, Thick hair, Slow-growing hair	ORPHA:2107
Fabry Disease	Angiokeratoma, Conjunctival telangiectasia, Telangiectasia of the skin, Subcutaneous nodule, Hype...	ORPHA:324
Woodhouse-Sakati Syndrome	Bilateral sensorineural hearing impairment, Protruding ear, Scaling skin	ORPHA:3464
Chronic Actinic Dermatitis	Epidermal acanthosis, Cutaneous photosensitivity	ORPHA:330064
Koolen-De Vries Syndrome Due To A Point Mutation	Prominent fingertip pads, Recurrent respiratory infections, Recurrent urinary tract infections, R...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Prominent fingertip pads, Recurrent respiratory infections, Recurrent urinary tract infections, R...	ORPHA:363958
X-Linked Intellectual Disability, Golabi-Ito-Hall Type	Dry hair, Nail dystrophy, Brittle hair	ORPHA:93947
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Sparse hair, Fine hair	OMIM:616817
Focal Facial Dermal Dysplasia Type Iv	Abnormal epidermal morphology	ORPHA:398189
Jaberi-Elahi Syndrome	Sparse eyebrow, Fine hair, Sparse eyelashes, Brittle hair, Sparse hair	OMIM:617988
Autoinflammatory Disease, Systemic, With Vasculitis	Erythema, Failure to thrive, Jaundice, Purpura, Urticaria	OMIM:620376
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Synophrys, Sparse hair, Fine hair, Low anterior hairline	ORPHA:391408
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Highly arched eyebrow, Hirsutism, Low anterior hairline, Broad eyebrow, Woolly hair	OMIM:619244
Vipoma	Erythema, Weight loss, Subcutaneous lipoma, Intermittent jaundice	ORPHA:97282
19Q13.11 Microdeletion Syndrome	Sparse lateral eyebrow, Fine hair, Supernumerary nipple, Sparse or absent eyelashes, Nail dysplas...	ORPHA:217346
Microphthalmia With Linear Skin Defects Syndrome	Erythema, Failure to thrive, Abnormal earlobe morphology, Hearing impairment, Cleft earlobe	ORPHA:2556
6Q Terminal Deletion Syndrome	Clinodactyly, Failure to thrive, Low-set, posteriorly rotated ears, Obesity, Hallux valgus, Hyper...	ORPHA:75857
Familial Mediterranean Fever	Skin rash, Erythema, Erysipelas	ORPHA:342
Atypical Werner Syndrome	Subcutaneous calcification, Rocker bottom foot, Skin ulcer, Progeroid facial appearance, Prematur...	ORPHA:79474
Kyphoscoliotic Ehlers-Danlos Syndrome	Low-set ears, Poor wound healing, Bruising susceptibility, Hearing impairment, Conductive hearing...	ORPHA:536545
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Fine hair, Synophrys	OMIM:619428
Zollinger-Ellison Syndrome	Erythema, Jaundice, Weight loss	ORPHA:913
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Erythema, Recurrent respiratory infections, Fragile skin, Macrotia	OMIM:614748
Fetal Hydantoin Syndrome	Low posterior hairline, Coarse hair, Hypoplastic fingernail	ORPHA:1912
Relapsing Polychondritis	Chondritis of pinna, Erythema, Purpura, Sensorineural hearing impairment	ORPHA:728
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Sparse eyebrow, Broad lateral eyebrow, Curly hair	ORPHA:500150
Trichothiodystrophy 3, Photosensitive	Trichorrhexis nodosa, Tiger tail banding, Brittle hair	OMIM:616395
Glucagonoma	Subcutaneous lipoma, Necrolytic migratory erythema, Skin rash, Intermittent jaundice, Pruritus	ORPHA:97280
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Alopecia, Fine hair	ORPHA:228390
Trichorhinophalangeal Syndrome, Type I	Sparse lateral eyebrow, Fine hair, Thin eyebrow, Leukonychia, Concave nail, Slow-growing hair, Th...	OMIM:190350
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Woolly hair	OMIM:610193
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Long eyelashes, Fine hair, Synophrys	OMIM:620250
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Sparse eyebrow, Absent nipple, Fine hair, Sparse body hair, Concave nail, Sparse eyelashes, Absen...	OMIM:305100
Lymphatic Filariasis	Hyperkeratosis	ORPHA:2035
Multiple Endocrine Neoplasia Type 4	Erythema, Confetti-like hypopigmented macules, Subcutaneous lipoma	ORPHA:276152
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Hypoplastic nipples, Hypertrichosis, Curly hair	ORPHA:480880
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Toe syndactyly, Conductive hearing impairment, Hand polydactyly, Ectodermal dysplasia, Split hand...	OMIM:129900
Gorlin-Chaudhry-Moss Syndrome	Generalized hirsutism, Coarse hair, Low anterior hairline	ORPHA:2095
Sympathetic Ophthalmia	Tinnitus, Erythema, Hearing impairment	ORPHA:79098
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Sparse eyebrow, Coarse hair, Dystrophic toenail, Supernumerary nipple, Hyperconvex fingernails, S...	ORPHA:1071
Cerebrofaciothoracic Dysplasia	Coarse hair, Thick eyebrow, Low posterior hairline, Abnormal hair pattern, Synophrys	ORPHA:1394
Intellectual Disability, Buenos-Aires Type	Abnormal fingernail morphology, Hyperconvex thumb nails, Fine hair	ORPHA:3079
Cartilage-Hair Hypoplasia	Sparse eyebrow, Fair hair, Fine hair, Sparse eyelashes, Sparse facial hair, Sparse hair	OMIM:250250
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Sparse eyebrow, Brittle hair	OMIM:618810
Spinocerebellar Ataxia-Dysmorphism Syndrome	Coarse hair	ORPHA:1185
Scorpion Envenomation	Erythema, Purpura	ORPHA:466677
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Fine hair	ORPHA:363686
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Toe syndactyly, Hearing impairment, Ectrodactyly, Ectodermal dysplasia, Split hand, Hyperkeratosi...	OMIM:604292
Mucopolysaccharidosis-Plus Syndrome	Coarse hair, Long eyelashes, Low anterior hairline, Low posterior hairline, Hirsutism, Synophrys	OMIM:617303
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Nail dysplasia, Sparse hair, Fine hair, Aplasia/Hypoplasia of the eyebrow	OMIM:614091
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Low-set ears, Failure to thrive, Overlapping toe, Contracture of the distal interphalangeal joint...	ORPHA:83617
Koolen-De Vries Syndrome	Abnormality of hair texture, Hypopigmentation of hair	ORPHA:96169
Frontonasal Dysplasia 2	Sparse eyebrow, Fine hair, Alopecia totalis, Sparse eyelashes, Sparse hair	OMIM:613451
Ogden Syndrome	Fine hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:276432
S-Adenosylhomocysteine Hydrolase Deficiency	Abnormality of hair texture	ORPHA:88618
Trisomy 20P	Highly arched eyebrow, Coarse hair, Thick eyebrow, Low anterior hairline, Low posterior hairline,...	ORPHA:261318
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Sparse hair, Brittle hair	OMIM:608612
Galloway-Mowat Syndrome 9	Coarse hair	OMIM:619603
Hallermann-Streiff Syndrome	Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Abnormality of hair texture, Sparse...	ORPHA:2108
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Aplastic/hypoplastic toenail, Aplasia/Hypoplasia of the eyebrow, Fine hair, Supernumerary nipple	ORPHA:1812
Revesz Syndrome	Ridged fingernail, Fine hair, Nail dystrophy, Sparse hair, Nail pits	OMIM:268130
Acrofacial Dysostosis, Catania Type	Abnormal hair pattern, Coarse hair	ORPHA:1786
Proteus Syndrome	Macrodactyly, Low-set ears, Thickened skin, Finger syndactyly, Vascular skin abnormality, General...	ORPHA:744
Dyskeratosis Congenita, Autosomal Dominant 3	Alopecia, Fine hair, Premature graying of hair, Nail dystrophy, Nail dysplasia	OMIM:613990
Multiple Sulfatase Deficiency	Coarse hair, Thick eyebrow	ORPHA:585
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Brittle hair	OMIM:236200
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Thick eyebrow, Fine hair	OMIM:614800
Koolen-De Vries Syndrome	Abnormality of hair texture, Fair hair	OMIM:610443
Craniolenticulosutural Dysplasia	Sparse hair, Coarse hair, Brittle hair	ORPHA:50814
Trichothiodystrophy	Aplasia/Hypoplasia of the nails, Ridged nail, Tiger tail banding, Alopecia of scalp, Concave nail...	ORPHA:33364
Schimke Immunoosseous Dysplasia	Coarse hair, Fine hair	OMIM:242900
Pseudoxanthoma Elasticum	Cutis laxa, Civatte bodies	OMIM:264800
Macrocephaly/Autism Syndrome	Coarse hair	OMIM:605309
Oculodentodigital Dysplasia, Autosomal Recessive	Sparse hair, Fine hair, Sparse eyelashes	OMIM:257850
Argininosuccinic Aciduria	Trichorrhexis nodosa, Dry hair, Brittle hair	OMIM:207900
Diamond-Blackfan Anemia 21	Coarse hair, Horizontal eyebrow, Widow's peak, Synophrys	OMIM:620072
2P15P16.1 Microdeletion Syndrome	Long eyelashes, Sparse eyebrow, Fine hair, Supernumerary nipple	ORPHA:261349
Cranioectodermal Dysplasia 3	Short nail, Sparse hair, Fine hair, Broad nail	OMIM:614099
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Sparse hair, Thick hair, Coarse hair	ORPHA:357074
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Thickened skin, Orthokeratotic hyperkeratosis, Epidermal thickening	ORPHA:73223
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Abnormality of hair texture	ORPHA:79351
Mucopolysaccharidosis, Type Iiid	Coarse hair, Facial hirsutism, Thick eyebrow, Hirsutism, Synophrys	OMIM:252940
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	White hair, Fine hair	ORPHA:935
Oculodentodigital Dysplasia	Dry hair, Fine hair, Slow-growing hair, Sparse hair, Fragile nails	OMIM:164200
Bcard Syndrome	Nail dysplasia, Coarse hair	OMIM:612394
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Sparse hair, Fine hair	ORPHA:251028
Weaver Syndrome	Fine hair, Sparse hair, Thin nail, Deep-set nails	OMIM:277590
Autosomal Recessive Faciodigitogenital Syndrome	Hypopigmentation of hair, Dry hair, Widow's peak, Coarse hair	ORPHA:1974
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Dry hair, Low anterior hairline	OMIM:618569
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Sparse hair, Fine hair, Brittle hair	OMIM:618891
Mucopolysaccharidosis, Type Vii	Coarse hair, Thick eyebrow, Hirsutism	OMIM:253220
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Brittle hair	OMIM:619184
Syndromic Diarrhea	Trichorrhexis nodosa, Uncombable hair, Brittle hair, Hypopigmentation of hair, Woolly hair	ORPHA:84064
Genitopatellar Syndrome	Sparse scalp hair, Fine hair	ORPHA:85201
Nicolaides-Baraitser Syndrome	Dry hair, Sparse medial eyebrow, Hypertrichosis, Long eyelashes, Low anterior hairline, Low poste...	OMIM:601358
Hallermann-Streiff Syndrome	Sparse eyebrow, Fine hair, Sparse eyelashes, Sparse hair, Sparse scalp hair	OMIM:234100
Craniolenticulosutural Dysplasia	Sparse hair, Coarse hair, Brittle hair	OMIM:607812
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Fine hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:2637
Dubowitz Syndrome	Sparse lateral eyebrow, Fine hair, Abnormal fingernail morphology, Hypoplastic toenails, Low ante...	ORPHA:235
Lateral Meningocele Syndrome	Coarse hair	OMIM:130720
Cerebellofaciodental Syndrome	Sparse eyebrow, Fine hair	OMIM:616202
Ablepharon Macrostomia Syndrome	Fine hair, Breast hypoplasia, Absent eyelashes, Abnormal hair pattern, Absent eyebrow, Sparse hair	ORPHA:920
Scalp-Ear-Nipple Syndrome	Sparse pubic hair, Fine hair, Breast aplasia, Nail dysplasia, Patchy alopecia, Sparse axillary ha...	OMIM:181270
Opitz-Kaveggia Syndrome	Sparse hair, Frontal upsweep of hair, Fine hair	OMIM:305450
Cerebellar-Facial-Dental Syndrome	Sparse eyebrow, Sparse hair, Fine hair	ORPHA:444072
Mucopolysaccharidosis Type 3	Coarse hair, Hirsutism, Generalized hirsutism, Thick hair, Synophrys	ORPHA:581
Marshall-Smith Syndrome	Highly arched eyebrow, Hypertrichosis, Thick eyebrow, Brittle hair, Sparse hair, Synophrys	OMIM:602535
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Brittle hair	OMIM:616084
Adrenomyeloneuropathy	Frontal balding, Fine hair	ORPHA:139399
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Low posterior hairline, Highly arched eyebrow, Sparse hair, Fine hair	OMIM:613563
Mucolipidosis Type Ii	Fine hair, Dry hair, White hair	ORPHA:576
Hajdu-Cheney Syndrome	Coarse hair, Abnormal fingernail morphology, Thick eyebrow, Low anterior hairline, Generalized hi...	ORPHA:955
Mucolipidosis Ii Alpha/Beta	Sparse eyebrow, Sparse hair, Brittle hair	OMIM:252500
Orofaciodigital Syndrome Type 1	Alopecia, Sparse hair, Coarse hair, Brittle hair	ORPHA:2750
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Highly arched eyebrow, Sparse lateral eyebrow, Fine hair, Hypoplastic nipples, Sparse hair	OMIM:280000
Cranioectodermal Dysplasia 1	Short nail, Fine hair, Slow-growing hair, Thin nail, Sparse hair	OMIM:218330
Orofaciodigital Syndrome I	Sparse hair, Alopecia, Dry hair	OMIM:311200
Woodhouse-Sakati Syndrome	Alopecia, Sparse hair, Fine hair	OMIM:241080
Menkes Disease	Woolly hair, Hypopigmentation of hair, Sparse hair	ORPHA:565
Cockayne Syndrome B	Abnormal hair morphology, Sparse hair, Dry hair	OMIM:133540
Lysinuric Protein Intolerance	Sparse hair, Fine hair	OMIM:222700
Cockayne Syndrome Type 3	Dry hair, Premature graying of hair	ORPHA:90324
Myhre Syndrome	Sparse hair, Thick eyebrow, Fine hair	OMIM:139210
Cockayne Syndrome A	Sparse hair, Dry hair	OMIM:216400
Noonan Syndrome	Low posterior hairline, Coarse hair, Abnormal hair quantity	ORPHA:648
Ogden Syndrome	Long eyelashes, Sparse eyebrow, Fine hair	OMIM:300855
Coffin-Siris Syndrome 1	Facial hypertrichosis, Dry hair, Hypertrichosis, Long eyelashes, Hypoplastic fifth fingernail, Th...	OMIM:135900
Distal Deletion 12Q	Small nail, Fine hair	ORPHA:96149
Focal Dermal Hypoplasia	Supernumerary nipple, Ridged nail, Absent toenail, Nail dystrophy, Nail dysplasia, Patchy alopeci...	OMIM:305600
Occipital Horn Syndrome	Pili torti, Coarse hair	OMIM:304150
Melnick-Needles Syndrome	Frontal hirsutism, Coarse hair	OMIM:309350
Autosomal Recessive Malignant Osteopetrosis	Abnormality of hair texture	ORPHA:667
Cockayne Syndrome	Dry hair, Fine hair	ORPHA:191
Oculocerebrorenal Syndrome Of Lowe	Sparse scalp hair, Fine hair	ORPHA:534
Occipital Horn Syndrome	Coarse hair, Thick hair	ORPHA:198
Renpenning Syndrome 1	Sparse hair, Sparse lateral eyebrow, Brittle hair	OMIM:309500
Neuroocular Syndrome 1	Highly arched eyebrow, Small nail, Long eyelashes, Thick eyebrow, Distichiasis, Brittle hair, Syn...	OMIM:619539
Coffin-Lowry Syndrome	Hyperconvex fingernails, Highly arched eyebrow, Coarse hair, Thick eyebrow	OMIM:303600
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Brittle hair	OMIM:124000
Witteveen-Kolk Syndrome	High anterior hairline, Fine hair, Medial flaring of the eyebrow, Hyperconvex nail, Fragile nails	OMIM:613406
Noonan Syndrome 1	Low posterior hairline, Woolly hair	OMIM:163950
Alström Syndrome	Frontal balding, Fine hair, Hirsutism	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 Krt10

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 Krt10.

No publications found that use IMPC mice or data for Krt10.

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MGI Allele	Allele Type	Produced
Krt10^{tm1(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Krt10^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Krt10^{tm436744(L1L2_GT0_LF2A_LacZ_BetactP_neo)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

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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