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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 (741 diseases)

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

Disease	Matching phenotypes	Source
Ichthyosis, Annular Epidermolytic, 1	Hyperparakeratosis, Erythema, Palmoplantar hyperkeratosis, Ichthyosis, Erythematous plaque, Scali...	OMIM:607602
Ichthyosis Hystrix, Lambert Type	Hyperkeratosis, Orthokeratotic hyperkeratosis	OMIM:146600
Autosomal Dominant Epidermolytic Ichthyosis	Erythroderma, Skin ulcer, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmopla...	ORPHA:312
Epidermolytic Hyperkeratosis 2	Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato...	OMIM:620150
Ichthyosis With Confetti	Clubbing, Palmoplantar hyperkeratosis, Scaling skin, Congenital nonbullous ichthyosiform erythrod...	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	Uncombable hair, Curly hair, Brittle hair, Pili canaliculi	OMIM:617252
Woolly Hair, Autosomal Recessive 3	Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa	OMIM:616760
Porokeratosis Plantaris Palmaris Et Disseminata	Porokeratosis, Pruritus, Palmoplantar hyperkeratosis, Skin plaque, Annular cutaneous lesion, Hype...	ORPHA:737
Pruritic Urticarial Papules And Plaques Of Pregnancy	Urticarial plaque, Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Facial erythem...	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	Acne, Miscarriage, Facial erythema, Hyperkeratotic papule, Erythematous papule, Dermal atrophy, F...	ORPHA:3406
Porokeratosis Of Mibelli	Porokeratosis, Aplasia/Hypoplasia of the skin, Pruritus, Hyperkeratosis, Cutaneous photosensitivity	ORPHA:735
Congenital Panfollicular Nevus	Pruritus, Hyperkeratosis, Skin nodule, Verrucous papule	ORPHA:139414
Palmoplantar Keratoderma, Norrbotten Recessive Type	Papule, Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections	OMIM:244850
Uncombable Hair Syndrome 2	Uncombable hair, Pili canaliculi	OMIM:617251
Darier Disease	Macule, Acrokeratosis, Hypermelanotic macule, Pruritus, Thickened skin, Plantar pits, Palmoplanta...	ORPHA:218
Ichthyosis, Congenital, Autosomal Recessive 14	Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin, Congenital nonbu...	OMIM:617571
Epidermolysis Bullosa Simplex 1C, Localized	Hyperkeratosis, Milia	OMIM:131800
Hyperkeratosis-Hyperpigmentation Syndrome	Multiple cafe-au-lait spots, Hyperkeratosis, Cutaneous photosensitivity, Papule	ORPHA:1336
Erythrokeratodermia Variabilis Et Progressiva 4	Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Erythema, Palmoplantar hyperker...	OMIM:617526
Non-Epidermolytic Palmoplantar Keratoderma	Pruritus, Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer, Papule	ORPHA:2337
Progressive Symmetric Erythrokeratodermia	Erythema, Palmoplantar keratoderma, Skin plaque	ORPHA:316
Familial Benign Chronic Pemphigus	Acantholysis, Erythema, Hyperkeratosis, Skin vesicle, Skin erosion	ORPHA:2841
Hypotrichosis 4	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair	OMIM:146550
Atrophoderma Vermiculata	Hypoplastic pilosebaceous units, Pruritus, Erythema, Periauricular skin pits, Atrophic scars, Ski...	ORPHA:79100
Acquired Ichthyosis	Recurrent skin infections, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyos...	ORPHA:454
Ichthyosis, Lamellar, Autosomal Dominant	Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:146750
Reticulate Acropigmentation Of Kitamura	Macule, Hyperkeratosis	OMIM:615537
Acrokeratosis Verruciformis	Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Verrucous papule, Acrokeratosis	OMIM:101900
Ichthyosis Hystrix, Curth-Macklin Type	Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin, Fragile skin	OMIM:146590
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Pemphigus Foliaceus	Psoriasiform dermatitis, Acantholysis, Pruritus, Pustule, Erythema, Crusting erythematous dermati...	ORPHA:79481
Keratosis, Focal Palmoplantar And Gingival	Circumungual hyperkeratosis, Subungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re...	OMIM:148730
Krt1-Related Diffuse Nonepidermolytic Keratoderma	Diffuse palmoplantar hyperkeratosis, Nonepidermolytic palmoplantar hyperkeratosis, Erythema, Onyc...	ORPHA:530838
Dowling-Degos Disease	Hypopigmented macule, Epidermoid cyst, Hypermelanotic macule, Pruritus, Palmar pits, Digital pitt...	ORPHA:79145
Ichthyosis, Congenital, Autosomal Recessive 13	Ichthyosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis	OMIM:617574
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1	Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ...	OMIM:613000
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Parakeratosis, Pruritus, Palmoplantar hyperkeratosis, Skin fragility with non-scarring blistering...	ORPHA:158681
Mal De Meleda	Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Er...	ORPHA:87503
Erythrokeratodermia Variabilis Et Progressiva 2	Erythema, Palmoplantar keratoderma, Skin plaque	OMIM:617524
Uncombable Hair Syndrome 1	Uncombable hair, Dry hair, Pili canaliculi	OMIM:191480
Palmoplantar Keratoderma, Punctate Type Iii	Hyperkeratosis, Acrokeratosis	OMIM:101850
Lichen Planus Pemphigoides	Skin vesicle, Hyperkeratosis, Pruritus	ORPHA:254478
Aquagenic Palmoplantar Keratoderma	Excessive skin wrinkling on dorsum of hands and fingers, Atopic dermatitis, Orthokeratotic hyperk...	ORPHA:498359
Witkop Syndrome	Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair	OMIM:189500
Dowling-Degos Disease 2	Hyperkeratotic papule, Hypomelanotic macule, Follicular hyperkeratosis	OMIM:615327
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis	ORPHA:86923
Insulin-Resistance Syndrome Type A	Hyperkeratosis, Subcutaneous nodule	ORPHA:2297
Ichthyosis, Annular Epidermolytic, 2	Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthok...	OMIM:620148
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Hyperkeratosis, Fragile skin	OMIM:615028
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Plantar hyperkeratosis, Hypermelanotic macule, Pruritus, Spotty hypopigmentation, Hyperkeratosis,...	ORPHA:79399
Iga Pemphigus	Neutrophilic infiltration of the skin, Acantholysis, Pustule, Pruritus, Annular cutaneous lesion,...	ORPHA:555905
Ichthyosis, Annular Epidermolytic, 1	Hyperparakeratosis, Erythema, Palmoplantar hyperkeratosis, Ichthyosis, Erythematous plaque, Scali...	OMIM:607602
Palmoplantar Keratoderma And Congenital Alopecia 2	Palmoplantar hyperkeratosis, Facial erythema, Hyperkeratosis, Dry skin, Sclerodactyly	OMIM:212360
Erythrokeratoderma ''En Cocardes''	Hyperkeratosis, Papule	ORPHA:315
Acrokeratoderma, Hereditary Papulotranslucent	Fine hair	OMIM:101840
Dermatoleukodystrophy	Hyperkeratosis, Thickened skin	ORPHA:1659
Ichthyosis Hystrix, Lambert Type	Hyperkeratosis, Orthokeratotic 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	Hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:617756
Palmoplantar Keratoderma, Nagashima Type	Epidermal acanthosis, Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis...	OMIM:615598
Palmoplantar Keratoderma-Deafness Syndrome	Hyperkeratosis, Palmoplantar keratoderma	ORPHA:2202
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Pruritus, Skin erosion, Localized skin lesion, Fragile skin, Erythematous papule, Atypical scarri...	ORPHA:79410
Elastosis Perforans Serpiginosa	Skin-colored papule, Crusting erythematous dermatitis, Cutis laxa, Hyperkeratotic papule, Erythem...	ORPHA:79148
Ichthyosis, Congenital, Autosomal Recessive 8	Hypergranulosis, Erythema, Hyperkeratosis, Ichthyosis, Orthokeratosis	OMIM:613943
Verrucous Hemangioma	Inflammatory abnormality of the skin, Hyperkeratotic papule, Skin plaque	ORPHA:464318
Epidermolysis Bullosa Dystrophica, Pretibial	Pruritus, Hyperkeratosis, Atrophic scars	OMIM:131850
Peeling Skin Syndrome 5	Hyperkeratosis, Epidermal acanthosis, Scaling skin	OMIM:617115
Anonychia With Flexural Pigmentation	Hyperkeratosis, Macular telangiectasia, Hypermelanotic macule, Follicular hyperkeratosis	ORPHA:69125
Classic Mycosis Fungoides	Skin rash, Eczema, Pruritus, Erythema, Hypopigmented skin patches, Skin ulcer, Skin plaque, Hyper...	ORPHA:2584
Superficial Epidermolytic Ichthyosis	Acantholysis, Erythema, Palmoplantar keratoderma, Thin skin, Ichthyosis	ORPHA:455
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Aplasia cutis congenita on trunk or limbs, Pruritus, Palmoplantar hyperkeratosis, Hyperkeratosis,...	ORPHA:89838
Hypotrichosis 6	Pruritus, Erythema, Follicular hyperkeratosis	OMIM:607903
Chand Syndrome	Curly hair, Nail dysplasia	OMIM:214350
Mal De Meleda	Congenital symmetrical palmoplantar keratosis, Perioral erythema, Ichthyosis	OMIM:248300
Angioma Serpiginosum, X-Linked	Sparse hair, Nail dystrophy, Fine hair	OMIM:300652
Vulvovaginal Gingival Syndrome	Pruritus, Skin erosion, Parakeratosis, Erythema	ORPHA:83453
Trichodysplasia-Xeroderma Syndrome	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod...	ORPHA:3361
Marie Unna Hereditary Hypotrichosis	Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e...	ORPHA:444
Ichthyosis Hystrix Of Curth-Macklin	Hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Recurrent skin infections, Ichthyosis	ORPHA:79503
Hyperkeratosis Lenticularis Perstans	Aplasia/Hypoplasia of the skin, Hyperkeratosis lenticularis perstans, Pruritus, Skin ulcer, Papule	ORPHA:409
Monilethrix	Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:158000
Jessner Lymphocytic Infiltration Of The Skin	Pruritus, Erythema, Skin plaque, Cutaneous photosensitivity, Papule	ORPHA:33314
Keratoderma Hereditarium Mutilans With Ichthyosis	Parakeratosis, Scaling skin on fingertip, Epidermal acanthosis, Hypergranulosis, Sensorineural he...	ORPHA:79395
Peeling Skin Syndrome 4	Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthoke...	OMIM:607936
Erythrokeratodermia Variabilis Et Progressiva 3	Hypergranulosis, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis	OMIM:617525
Autosomal Dominant Epidermolytic Ichthyosis	Erythroderma, Skin ulcer, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmopla...	ORPHA:312
Erythrokeratodermia Variabilis	Macule, Skin rash, Hypermelanotic macule, Erythema, Patchy palmoplantar hyperkeratosis, Hyperkera...	ORPHA:317
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o...	ORPHA:79414
Ichthyosis, Congenital, Autosomal Recessive 10	Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General...	OMIM:615024
Epidermolytic Hyperkeratosis 2	Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato...	OMIM:620150
Dystrophic Epidermolysis Bullosa Pruriginosa	Pruritus, Subcutaneous nodule, Hyperkeratosis, Atrophic scars, Dermal atrophy, Skin plaque, Milia...	ORPHA:89843
Chilblain Lupus	Inflammatory abnormality of the skin, Skin rash, Cutis marmorata, Discoid lupus rash, Skin ulcer,...	ORPHA:90280
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Erythema, Crusting erythematous dermatitis, Fragile skin, Palmoplantar hyperkeratosis, Telangiect...	ORPHA:158673
Cutaneous Mastocytoma	Macule, Maculopapular exanthema, Hypermelanotic macule, Telangiectasia of the skin, Pruritus, Thi...	ORPHA:79455
Keratosis Palmoplantaris Striata Ii	Palmoplantar keratoderma, Epidermal acanthosis	OMIM:612908
Epidermolytic Hyperkeratosis 1	Epidermal acanthosis, Scaling skin, Palmoplantar hyperkeratosis, Congenital bullous ichthyosiform...	OMIM:113800
Pemphigus Vulgaris	Atypical scarring of skin, Recurrent cutaneous abscess formation, Urticaria, Acantholysis	ORPHA:704
Hair Defect With Photosensitivity And Mental Retardation	Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair	OMIM:234030
Erythrokeratodermia Variabilis Et Progressiva 6	Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Erythematous pl...	OMIM:618531
Acral Peeling Skin Syndrome	Macule, Eczema, Erythema, Scaling skin, Ichthyosis, Skin erosion, Papule, Excessive wrinkling of ...	ORPHA:263534
Ichthyosis, Congenital, Autosomal Recessive 6	Parakeratosis, Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Generalized ichthy...	OMIM:612281
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair...	ORPHA:170
Bathing Suit Ichthyosis	Parakeratosis, Autoamputation of digits, Epidermal acanthosis, Thickened skin, Palmoplantar hyper...	ORPHA:100976
Ectodermal Dysplasia 4, Hair/Nail Type	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod...	OMIM:602032
Familial Reactive Perforating Collagenosis	Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Pruritus, Crusti...	ORPHA:79147
Transgrediens Et Progrediens Palmoplantar Keratoderma	Recurrent bacterial skin infections, Plantar hyperkeratosis, Thickened skin, Diffuse palmoplantar...	ORPHA:495
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome	Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the eyebrow, Abnormality of hair te...	ORPHA:2891
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Parakeratosis, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis	OMIM:615821
Hypotrichosis And Recurrent Skin Vesicles	Skin vesicle, Follicular hyperkeratosis	OMIM:613102
Sabinas Brittle Hair Syndrome	Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:211390
Erosive Pustular Dermatosis Of The Scalp	Pustule, Scarring alopecia of scalp, Erythema, Skin erosion	ORPHA:222
Pili Torti	Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ...	ORPHA:2889
Woolly Hair, Autosomal Dominant	Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Coarse hai...	OMIM:194300
Erythema Elevatum Diutinum	Skin vesicle, Skin nodule, Skin rash, Vasculitis in the skin	ORPHA:90000
Acute Generalized Exanthematous Pustulosis	Predominantly dermal neutrophilic infiltrate, Acantholysis, Pruritus, Pustule, Eosinophilic derma...	ORPHA:293173
Hypotrichosis 13	Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology	OMIM:615896
Sjögren-Larsson Syndrome	Erythema, Urticaria, Hyperkeratosis, Ichthyosis, Dry skin	ORPHA:816
Parana Hard Skin Syndrome	Hyperkeratosis, Thickened skin	ORPHA:2812
Pili Torti, Early-Onset	Dry hair, Brittle hair, Coarse hair, Hair shafts flattened at irregular intervals and twisted thr...	OMIM:261900
Lipoid Proteinosis Of Urbach And Wiethe	Thickened skin, Hyperkeratosis, Skin erosion, Skin plaque, Papule	OMIM:247100
Ichthyosis, Congenital, Autosomal Recessive 3	Erythema, Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythrode...	OMIM:606545
Infantile Digital Fibromatosis	Hyperkeratosis, Parakeratosis, Skin nodule	ORPHA:199267
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Scaling skin, Folli...	OMIM:616295
Dermatitis Herpetiformis	Macule, Eczema, Pruritus, Erythema, Urticaria, Skin vesicle	ORPHA:1656
Cutaneous Collagenous Vasculopathy	Macule, Prominent superficial blood vessels, Skin rash, Pruritus, Erythema, Diffuse telangiectasi...	ORPHA:280779
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Psoriasis 2	Hyperkeratosis, Parakeratosis, Epidermal acanthosis, Scaling skin	OMIM:602723
Darier-White Disease	Hypermelanotic macule, Acrokeratosis, Acantholysis, Pruritus, Palmar pits, Plantar pits, Subungua...	OMIM:124200
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears	Sparse hair, Woolly hair	OMIM:278200
Peeling Skin Syndrome 6	Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin	OMIM:618084
Epidermolytic Palmoplantar Keratoderma	Epidermal acanthosis, Interphalangeal joint contracture of finger, Hypergranulosis, Epidermal hyp...	ORPHA:2199
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Erythema, Death in childhood, Hyperkeratosis, Scaling skin, Congenital nonbullous ichthyosiform e...	OMIM:614457
Ichthyosis, Congenital, Autosomal Recessive 5	Parakeratosis, Epidermal acanthosis, Palmar hyperlinearity, Palmoplantar keratoderma, Congenital ...	OMIM:604777
Cutaneous Small Vessel Vasculitis	Recurrent skin infections, Skin rash, Cutis marmorata, Erythema, Subcutaneous nodule, Urticaria, ...	ORPHA:889
Graham Little-Piccardi-Lassueur Syndrome	Pruritus, Perifollicular hyperkeratosis	ORPHA:505
Pemphigus Erythematosus	Focal dermal aplasia/hypoplasia, Acantholysis, Localized skin lesion, Hypopigmented skin patches,...	ORPHA:79480
Recessive X-Linked Ichthyosis	Hyperkeratosis, Dry skin, Ichthyosis	ORPHA:461
Idiopathic Localized Lipodystrophy	Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Pruritus, Erythema, Sc...	ORPHA:90158
Ichthyosis With Confetti	Clubbing, Palmoplantar hyperkeratosis, Scaling skin, Congenital nonbullous ichthyosiform erythrod...	OMIM:609165
Pemphigoid Gestationis	Skin vesicle, Pruritus	ORPHA:63275
Necrobiosis Lipoidica	Inflammatory abnormality of the skin, Telangiectasia of the skin, Indurated nodule, Skin nodule, ...	ORPHA:542592
Acrokeratosis Verruciformis Of Hopf	Parakeratosis, Hypergranulosis, Acantholysis, Skin-colored papule, Punctate palmoplantar hyperker...	ORPHA:79151
Pressure-Induced Localized Lipoatrophy	Reduced subcutaneous adipose tissue, Skin nodule, Inflammatory abnormality of the skin, Erythema	ORPHA:90160
Peeling Skin Syndrome 3	Pruritus, Erythema, White scaling skin	OMIM:616265
Dermatofibrosarcoma Protuberans	Subcutaneous nodule, Thickened skin, Erythema, Skin ulcer	ORPHA:31112
Palmoplantar Keratoderma And Congenital Alopecia 1	Palmoplantar erythema, Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal hyperkeratosis	OMIM:104100
Dermatitis, Atopic	Recurrent skin infections, Eczema, Pruritus, Atopic dermatitis, Facial erythema, Pallor, Ichthyos...	OMIM:603165
Vibratory Urticaria	Urticaria, Flushing, Facial erythema	OMIM:125630
Bazex Syndrome	Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Acanthosis nigricans	ORPHA:166113
Angioma Serpiginosum	Macule, Erythema, Vascular skin abnormality	ORPHA:95429
Cardiofaciocutaneous Syndrome 2	Sparse hair, Curly hair, Absent eyebrow, Fine hair	OMIM:615278
Naxos Disease	Woolly hair, Sparse scalp hair, Curly hair, Abnormality of hair texture	ORPHA:34217
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Erythema Of Acral Regions	Erythema, Talipes equinovarus	OMIM:227000
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke...	OMIM:613736
Panniculitis-Induced Localized Lipodystrophy	Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Skin nodule, Erythema,...	ORPHA:90159
Ichthyosis, Congenital, Autosomal Recessive 11	Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Sparse body hair, Sp...	OMIM:602400
Lichen Planopilaris	Pruritus, Hypopigmented skin patches, Skin ulcer, Hyperkeratosis, Dermal atrophy, Papule	ORPHA:525
Quinquaud Folliculitis Decalvans	Pustule, Scarring alopecia of scalp, Erythema, Recurrent skin infections	ORPHA:346
Alopecia-Intellectual Disability Syndrome 1	Alopecia, Alopecia universalis	OMIM:203650
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Hypotrichosis 7	Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor...	OMIM:604379
Hydroa Vacciniforme	Superficial dermal perivascular inflammatory infiltrate, Hydroa vacciniforme, Eczema, Telangiecta...	ORPHA:330058
Maculopapular Cutaneous Mastocytosis	Macule, Yellow papule, Pruritus, Erythema, Darier's sign, Dermatographic urticaria, Generalized a...	ORPHA:79457
Hypotrichosis 12	Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho...	OMIM:615885
Cutaneous Photosensitivity And Colitis, Lethal	Early cutaneous photosensitivity, Death in infancy, Erythema	OMIM:219095
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Plantar hyperkeratosis, Hypermelanotic macule, Spotty hypopigmentation, Cutaneous photosensitivit...	ORPHA:79397
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Scarring alopecia of scalp, Facial erythema, Folliculitis, Palmoplantar keratoderma, Follicular h...	OMIM:308800
Acrokeratoelastoidosis Of Costa	Yellow papule, Hypergranulosis, Piezogenic pedal papules, Palmoplantar hyperkeratosis, Skin plaqu...	ORPHA:38
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Death in early adulthood, Acantholysis, Palmoplantar hyperkeratosis, Death in adolescence, Palmop...	OMIM:605676
Palmoplantar Keratoderma And Woolly Hair	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair	OMIM:616099
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Epidermal acanthosis, Cutis laxa, Scaling skin, Generalized ichthyosis, Dry skin, Generalized hyp...	ORPHA:2269
Intellectual Developmental Disorder, Fra12A Type	Hyperkeratosis, Erythroderma	OMIM:136630
Crandall Syndrome	Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:202
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h...	ORPHA:573
Warty Dyskeratoma	Acrokeratosis, Umbilicated nodule, Skin-colored papule, Acantholysis, Localized skin lesion, Epid...	ORPHA:69745
Ichthyosis, Congenital, Autosomal Recessive 2	Epidermal acanthosis, Hypergranulosis, Short toe, Erythema, Hyperkeratosis, Congenital ichthyosif...	OMIM:242100
Vohwinkel Syndrome, Variant Form	Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat...	OMIM:604117
Erythema Nodosum, Familial	Erythema nodosum, Erythema	OMIM:132990
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hypermelanotic macule, Hypopigmented skin patches, Hyperkeratosis, Multiple lentigines, Cafe-au-l...	OMIM:145250
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Reduced subcutaneous adipose tissue, Epidermal hyperkeratosis, Telangiectasia of extensor surface...	OMIM:137940
Ectodermal Dysplasia/Skin Fragility Syndrome	Palmoplantar hyperkeratosis, Ectodermal dysplasia, Scaling skin, Palmoplantar blistering, Fragile...	OMIM:604536
Björnstad Syndrome	Alopecia, Brittle hair	ORPHA:123
Mastocytosis, Cutaneous	Urticaria, Erythema, Hypermelanotic macule, Telangiectasia macularis eruptiva perstans	OMIM:154800
Irida Syndrome	Hyperkeratosis, Pallor, Ichthyosis	ORPHA:209981
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Erythematous plaque, Palmoplantar kerat...	OMIM:173200
Familial Keratoacanthoma	Papule, Hyperkeratosis, Subcutaneous nodule, Skin ulcer	ORPHA:493
Acral Self-Healing Collodion Baby	Localized epidermolytic hyperkeratosis, Palmoplantar scaling skin, Erythema, Lack of skin elasticity	ORPHA:281127
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Eczema, Pruritus, Thickened skin, Pustule, Erythroderma, Palmoplantar k...	ORPHA:2897
Subacute Cutaneous Lupus Erythematosus	Psoriasiform lesion, Discoid lupus rash, Hyperkeratosis, Cutaneous photosensitivity, Annular cuta...	ORPHA:163525
Erythrokeratodermia Variabilis Et Progressiva 1	Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis, Erythroderma	OMIM:133200
Peeling Skin Syndrome 2	Erythema, Scaling skin	OMIM:609796
Ichthyosis, Hystrix-Like, With Deafness	Scarring alopecia of scalp, Erythroderma, Palmoplantar hyperkeratosis, Hyperkeratosis, Cobbleston...	OMIM:602540
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl...	ORPHA:284426
Cole Disease	Hypopigmented macule, Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palm...	OMIM:615522
Keratosis Pilaris Atrophicans	Erythema, Papule, Comedo	OMIM:604093
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma	Parakeratosis, Linear arrays of macular hyperkeratoses in flexural areas, Honeycomb palmoplantar ...	OMIM:601952
Trichodental Dysplasia	Sparse hair, Brittle hair, Slow-growing hair, Fine hair	OMIM:601453
Copper Deficiency, Familial Benign	Curly hair, Early balding	OMIM:121270
Keratolytic Winter Erythema	Erythema, Palmoplantar hyperhidrosis	OMIM:148370
Localized Epidermolysis Bullosa Simplex	Plantar hyperkeratosis, Pruritus, Focal friction-related palmoplantar hyperkeratosis, Skin plaque...	ORPHA:79400
Wells Syndrome	Skin vesicle, Pruritus	ORPHA:901
Prolidase Deficiency	Aplasia/Hypoplasia of the skin, Pruritus, Erythema, Crusting erythematous dermatitis, Skin ulcer,...	ORPHA:742
Carvajal Syndrome	Woolly hair	ORPHA:65282
Trichothiodystrophy 7, Nonphotosensitive	Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkeratosis, Ichthyosis	OMIM:618546
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Orthostatic Hypotensive Disorder, Streeten Type	Bruising susceptibility, Facial erythema	OMIM:143850
Psoriasis 14, Pustular	Pustule, Parakeratosis, Erythema, Psoriasiform dermatitis	OMIM:614204
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Hyperkeratosis, Parakeratosis, Subcutaneous nodule	OMIM:618339
Epidermolysis Bullosa, Lethal Acantholytic	Neonatal death, Skin erosion, Aplasia cutis congenita, Acantholysis	OMIM:609638
Ichthyosis Vulgaris	Palmar hyperlinearity, Dry skin, Absent keratohyalin granules, Ichthyosis	OMIM:146700
Bjornstad Syndrome	Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t...	OMIM:262000
Focal Palmoplantar And Gingival Keratoderma	Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkeratosis, Gingival hyperkerat...	ORPHA:2200
Hypotrichosis Simplex Of The Scalp	Hyperkeratosis, Parakeratosis, Epidermal acanthosis, Scaling skin	ORPHA:90368
Lymphatic Malformation 4	Hyperkeratosis, Prominent superficial veins	OMIM:615907
Keratolytic Winter Erythema	Pustule, Erythema	ORPHA:50943
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Follicular hyperkeratosis	OMIM:277350
Ectodermal Dysplasia 7, Hair/Nail Type	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa...	OMIM:614929
Chromomycosis	Erythematous macule, Pruritus, Hyperparakeratosis, Subcutaneous nodule, Verrucous papule, Hypopig...	ORPHA:182
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2	Bruising susceptibility, Poor wound healing, Dermal translucency	OMIM:619120
Pyoderma Gangrenosum	Pustule, Skin ulcer, Atrophic scars, Skin vesicle, Papule	ORPHA:48104
Ectodermal Dysplasia-Syndactyly Syndrome 2	Syndactyly, Ectodermal dysplasia, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital...	OMIM:613576
Chronic Mucocutaneous Candidiasis	Skin rash, Pruritus, Erythema, Skin ulcer, Hyperkeratosis, Papule	ORPHA:1334
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Redundant skin, Atrophic scars, Gingival hyperkeratosis, Bruising susceptibility, Fragile skin, D...	OMIM:225410
Keratoderma Hereditarium Mutilans	Hyperkeratosis, Papule, Honeycomb palmoplantar hyperkeratosis, Ichthyosis	ORPHA:494
Mycosis Fungoides	Psoriasiform dermatitis, Eczema, Pruritus, Erythema, Skin plaque	OMIM:254400
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Parakeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplanta...	OMIM:300918
Porokeratosis 7, Multiple Types	Parakeratosis, Porokeratosis	OMIM:614714
Porokeratosis 1, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175800
Congenital Disorder Of Glycosylation, Type If	Hyperkeratosis, Failure to thrive, Dry skin, Scaling skin	OMIM:609180
Lamellar Ichthyosis	Pruritus, Lack of skin elasticity, Hyperkeratosis, Ichthyosis, Erythroderma, Dry skin	ORPHA:313
Schopf-Schulz-Passarge Syndrome	Hyperkeratosis, Ectodermal dysplasia, Palmoplantar keratoderma, Dry skin	OMIM:224750
Bullous Impetigo	Pustule, Recurrent bacterial skin infections, Erythema	ORPHA:36237
Ichthyosis Prematurity Syndrome	Pruritus, Dermatographic urticaria, Generalized ichthyosis, Follicular hyperkeratosis, Erythroderma	OMIM:608649
Dowling-Degos Disease 4	Epidermal acanthosis, Hypergranulosis	OMIM:615696
Basan Syndrome	Epidermal acanthosis, Single transverse palmar crease, Tapered finger, Cutaneous syndactyly of to...	OMIM:129200
Hennekam-Beemer Syndrome	Macule, Telangiectasia of the skin, Pruritus, Thickened skin, Erythema, Subcutaneous nodule, Urti...	ORPHA:2135
Onychotrichodysplasia And Neutropenia	Curly hair, Curly eyelashes, Concave nail, Sparse pubic hair, Short eyelashes, Trichorrhexis nodo...	OMIM:258360
Olmsted Syndrome 2	Parakeratosis, Pruritus, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Pa...	OMIM:619208
Familial Cold Autoinflammatory Syndrome 3	Recurrent sinopulmonary infections, Angioedema, Erythema, Dermatographic urticaria, Cold urticari...	OMIM:614468
Moynahan Syndrome	Hyperkeratosis	ORPHA:2574
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Epidermal acanthosis, Hypergranulosis, Palmoplantar hyperkeratosis, 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
Benign Chronic Pemphigus	Erythema	OMIM:169600
Annular Erythema	Erythema	OMIM:106500
Flynn-Aird Syndrome	Hyperkeratosis, Dermal atrophy	OMIM:136300
Erythrokeratodermia Variabilis Et Progressiva 7	Woolly hair, Dystrophic toenail	OMIM:619209
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m...	ORPHA:248
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Atrophic scars, Bruising susceptibility, Follicular hyperkeratosis	ORPHA:300179
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Skin vesicle, Aplasia/Hypoplasia of the skin, Dermal atrophy, Papule	ORPHA:257
Singleton-Merten Syndrome 2	Hyperkeratosis, Psoriasiform lesion, Osteolytic defects of the phalanges of the hand	OMIM:616298
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Bruising susceptibility, Poor wound healing, Dermal translucency	OMIM:619115
Ichthyosis, Congenital, Autosomal Recessive 9	Hypergranulosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Erythroderma, ...	OMIM:615023
Palmoplantar Keratoderma, Punctate Type Ia	Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis	OMIM:148600
Neuropathy, Hereditary Sensory, Type If	Hyperkeratosis	OMIM:615632
Recon Progeroid Syndrome	Attached earlobe, Arachnodactyly, Proximal placement of thumb, Progeroid facial appearance, Lived...	OMIM:620370
Immunodeficiency 58	Recurrent cutaneous abscess formation, Failure to thrive, Helicobacter pylori infection, Psoriasi...	OMIM:618131
Drug-Induced Localized Lipodystrophy	Reduced subcutaneous adipose tissue, Erythema	ORPHA:90157
Ichthyosis, Congenital, Autosomal Recessive 12	White scaling skin	OMIM:617320
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Folliculitis, Scarring alopecia of scalp, Palmoplantar keratoderma, Facial erythema	OMIM:612843
Sydenham Chorea	Erythema, Recurrent streptococcus pneumoniae infections	ORPHA:306731
Primary Erythromelalgia	Pruritus, Erythema	ORPHA:90026
Autosomal Dominant Hyper-Ige Syndrome	Skin rash, Eczema, Pruritus, Skin ulcer, Skin vesicle, Generalized abnormality of skin, Papule	ORPHA:2314
Palmoplantar Keratoderma, Epidermolytic, 1	Localized epidermolytic hyperkeratosis, Plantar hyperkeratosis, Palmoplantar hyperkeratosis, Palm...	OMIM:144200
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Psoriasiform dermatitis, Recurrent skin infections, Hypergranulosis, Acantholysis, Erythroderma, ...	OMIM:615508
Bullous Pemphigoid	Urticaria, Erythema, Recurrent infections, Weight loss	ORPHA:703
Porokeratosis 3, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175900
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Thickened skin, Erythema, Skin ulcer, Palmoplantar keratoderma, Skin fissure	ORPHA:659
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Woolly hair	OMIM:610476
Seborrhea-Like Dermatitis With Psoriasiform Elements	Hyperkeratosis, Seborrheic dermatitis	OMIM:610227
Rosaï-Dorfman Disease	Subcutaneous nodule, Erythema, Papule	ORPHA:158014
Interstitial Granulomatous Dermatitis With Arthritis	Pruritus, Inflammatory abnormality of the skin, Erythema, Papule	ORPHA:79099
Lupus Erythematosus Tumidus	Cutaneous photosensitivity, Scaling skin	ORPHA:90283
Fixed Drug Eruption	Erythema, Crusting erythematous dermatitis, Erythematous plaque, Skin erosion, Generalized abnorm...	ORPHA:293812
Proteus Syndrome	Hyperkeratosis, Epidermal nevus, Nevus	OMIM:176920
Lipoid Proteinosis	Acne, Pustule, Thickened skin, Subcutaneous nodule, Hyperkeratosis, Papule	ORPHA:530
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Recurrent sinopulmonary infections, Erythema, Recurrent pneumonia, Chronic mucocutaneous candidia...	OMIM:147060
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Conjunctival telangiectasia, Palmoplantar keratoderma, Scaling skin, Dry skin	OMIM:618373
Leopard Syndrome 3	Few cafe-au-lait spots, Numerous nevi, Epidermal hyperkeratosis, Hyperkeratosis, Multiple lentigi...	OMIM:613707
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Pruritus, Plantar hyperkeratosis	OMIM:616487
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Comedonal acne, Follicular hyperkeratosis	OMIM:615147
Ichthyosis, Congenital, Autosomal Recessive 7	Palmoplantar keratoderma, Epidermal acanthosis, Hypergranulosis, Ichthyosis	OMIM:615022
Corneodermatoosseous Syndrome	Abnormality of the hand, Hearing impairment, Thickened skin, Erythema, Abnormal finger morphology...	ORPHA:3194
Congenital Disorder Of Glycosylation, Type Iq	Eczema, Cutis laxa, Hyperkeratosis, Ichthyosis, Dry skin	OMIM:612379
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair	OMIM:129490
Diffuse Cutaneous Mastocytosis	Thickened skin, Darier's sign, Urticaria, Dermatographic urticaria, Scaling skin, Generalized abn...	ORPHA:79456
Porphyria Variegata	Thickened skin, Localized skin lesion, Skin vesicle, Skin erosion, Cutaneous photosensitivity, Milia	ORPHA:79473
Odontoonychodermal Dysplasia	Plantar hyperkeratosis, Hypergranulosis, Erythema, Palmoplantar hyperkeratosis, Follicular hyperk...	OMIM:257980
Amyloidosis, Primary Localized Cutaneous, 1	Dry skin, Scaling skin	OMIM:105250
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome	Dermal translucency	ORPHA:529965
Kid Syndrome	Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Epidermal acanthosis,...	ORPHA:477
Aicardi-Goutieres Syndrome 5	Dry skin, Scaling skin	OMIM:612952
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Pruritus, Urticaria, Angioedema, Erythema	ORPHA:100057
Olmsted Syndrome 1	Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos...	OMIM:614594
Hypodontia-Dysplasia Of Nails Syndrome	Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Thin toenail, Ridged fingernail,...	ORPHA:2228
Autosomal Erythropoietic Protoporphyria	Pruritus, Cutaneous photosensitivity, Erythema, Eczema	ORPHA:79278
Acute Radiation Syndrome	Hyperkeratosis, Scaling skin, Skin ulcer, Telangiectasia	ORPHA:454831
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Redundant skin, Seborrheic dermatitis, Erythema, Palmoplantar hyperkeratosis, Eczematoid dermatit...	OMIM:259100
Ichthyosis, Congenital, Autosomal Recessive 1	Parakeratosis, Erythroderma, Palmoplantar hyperkeratosis, Congenital ichthyosiform erythroderma, ...	OMIM:242300
Choroidal Atrophy-Alopecia Syndrome	Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye...	ORPHA:1433
Granulomatous Slack Skin	Erythema, Redundant skin, Cutis laxa	ORPHA:33111
Centrifugal Lipodystrophy	Reduced subcutaneous adipose tissue, Lack of facial subcutaneous fat, Erythema, Scaling skin	ORPHA:90156
Hypotrichosis With Juvenile Macular Degeneration	Hyperkeratosis, Melanocytic nevus	ORPHA:1573
Mednik Syndrome	Hyperkeratosis, Ichthyosis	ORPHA:171851
Ramon Syndrome	Hyperkeratosis, Telangiectasia of the skin	ORPHA:3019
Tylosis With Esophageal Cancer	Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis	OMIM:148500
Lethal Acantholytic Erosive Disorder	Abnormal pinna morphology, Acantholysis, 4-5 finger syndactyly, 2-3 finger syndactyly, Fragile sk...	ORPHA:158687
White Sponge Nevus 2	Hyperparakeratosis	OMIM:615785
Pilarowski-Bjornsson Syndrome	Dermal translucency	OMIM:617682
Sweet Syndrome	Predominantly dermal neutrophilic infiltrate, Acne, Pustule, Skin nodule, Pyoderma gangrenosum, E...	ORPHA:3243
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Poor wound healing, Unilateral deafness, Dry skin, Facial erythema, Palmoplantar keratoderma, Sca...	ORPHA:1010
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Dry skin, Follicular hyperkeratosis	OMIM:617066
Cutis Laxa, Autosomal Recessive, Type Iiib	Prominent superficial veins, Cutis laxa, Excessive wrinkled skin, Thin skin, Dermal translucency	OMIM:614438
C1Q Deficiency 2	Sepsis, Facial erythema, Vasculitis in the skin, Recurrent otitis media, Recurrent lower respirat...	OMIM:620321
Intellectual Developmental Disorder, Autosomal Dominant 34	Curly hair, Synophrys, Coarse hair	OMIM:616351
Hereditary Sensory And Autonomic Neuropathy Type 1	Poor wound healing, Hyperkeratosis, Penetrating foot ulcers, Skin ulcer	ORPHA:36386
Congenital Disorder Of Glycosylation, Type Im	Death in infancy, Inflammatory abnormality of the skin, Hyperkeratosis, Ichthyosis, Dry skin	OMIM:610768
Bazex-Dupré-Christol Syndrome	Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor...	ORPHA:113
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Curly hair, Curly eyelashes, Multiple rows of eyelashes, Low posterior hairline, Nail dysplasia, ...	ORPHA:163654
Protoporphyria, Erythropoietic, 1	Pruritus, Erythema, Eczema	OMIM:177000
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Subungual hyperkeratosis, Eczema, Scarring alopecia of scalp, Hypoplastic sweat glands, Hypohidro...	OMIM:617337
Familial Cold Urticaria	Pruritus, Urticaria, Erythema	ORPHA:47045
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome	Hyperkeratotic papule, Palmoplantar keratoderma, Palmoplantar hyperkeratosis	ORPHA:2698
Cutis Laxa, Autosomal Dominant 3	Premature skin wrinkling, Cutis laxa, Dermal translucency	OMIM:616603
Dyskeratosis Congenita	Macule, Aplasia/Hypoplasia of the skin, Telangiectasia of the skin, Hypermelanotic macule, Hypopi...	ORPHA:1775
Amelo-Onycho-Hypohidrotic Syndrome	Hyperkeratosis, Dry skin	ORPHA:1028
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Parakeratosis, Hyperkeratosis, Ichthyosis, Acanthosis nigricans, Dry skin	OMIM:618527
Glutamine Deficiency, Congenital	Recurrent respiratory infections, Micromelia, Erythema, Low-set ears, Camptodactyly	OMIM:610015
Clouston Syndrome	Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Ab...	OMIM:129500
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Fragile nails, Fine hair	ORPHA:500166
Lymphatic Malformation 12	Neonatal death, Hyperkeratosis, Death in adolescence	OMIM:620014
Cardiofaciocutaneous Syndrome 4	Absent eyebrow, Curly hair, Sparse eyelashes, Sparse hair, Alopecia of scalp	OMIM:615280
Noonan Syndrome 6	Sparse hair, Curly hair, Long eyebrows, Low posterior hairline	OMIM:613224
Harlequin Ichthyosis	Hyperkeratosis, Congenital ichthyosiform erythroderma, Erythroderma, Ichthyosis	ORPHA:457
Leopard Syndrome 2	Curly hair	OMIM:611554
X-Linked Dominant Chondrodysplasia Punctata	Abnormal pinna morphology, Sensorineural hearing impairment, Upper limb asymmetry, Ichthyosis, Sc...	ORPHA:35173
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Neonatal sepsis, Psoriasiform lesion, Recurrent viral infections, Recurrent upper respiratory tra...	ORPHA:169154
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Dystrophic fingernails, Dystrophic toenail	ORPHA:1882
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Sparse hair, Fine hair	ORPHA:1174
Ectodermal Dysplasia-Syndactyly Syndrome 1	Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h...	OMIM:613573
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Recurrent respiratory infections, Failure to thrive in infancy, Recurrent viral infections, Sever...	OMIM:606367
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Parakeratosis, Syndactyly...	OMIM:308050
Ectodermal Dysplasia-Skin Fragility Syndrome	Recurrent pneumonia, Sepsis, Palmoplantar keratoderma, Scaling skin, Follicular hyperkeratosis, F...	ORPHA:158668
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hyperkeratosis, Telangiectasia of the skin, Telangiectasia	ORPHA:79279
Noonan Syndrome 5	Sparse eyebrow, Curly hair, Small nail, Fine hair	OMIM:611553
Noonan Syndrome 9	Sparse eyebrow, Curly hair	OMIM:616559
Pachyonychia Congenita 1	Follicular hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:167200
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Arachnodactyly, Camptodactyly of finger, Sensorineural hearing impairment, Hyperkeratosis, Joint ...	ORPHA:1883
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse	Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal acanthosis	OMIM:615735
Cardiofaciocutaneous Syndrome 3	Curly hair	OMIM:615279
Meige Disease	Recurrent bacterial skin infections, Recurrent skin infections, Skin ulcer, Atypical scarring of ...	ORPHA:90186
Peeling Skin Syndrome 1	Scaling skin, Palmoplantar hyperhidrosis	OMIM:270300
Xeroderma Pigmentosum	Macule, Conjunctival telangiectasia, Telangiectasia of the skin, Hypermelanotic macule, Thickened...	ORPHA:910
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Sparse hair, Curly hair, Synophrys, Sparse eyebrow	OMIM:620075
Polyarteritis Nodosa	Erythema, Cutis marmorata, Skin ulcer, Weight loss	ORPHA:767
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Atypical scarring of skin, Atrophic scars, Bruising susceptibility, Dermal translucency	OMIM:618343
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Telangiectasia of the skin, Subcutaneous nodule, Lip telangiec...	ORPHA:79280
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Dry skin, Follicular hyperkeratosis	ORPHA:486815
Hawkinsinuria	Sparse hair, Fine hair	ORPHA:2118
Hereditary Acrokeratotic Poikiloderma	Telangiectasia of the skin, Eczema, Pustule, Erythema, Hypopigmented skin patches, Skin ulcer, Pa...	ORPHA:2907
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Atrophic scars, Cutis laxa, Dermal translucency	OMIM:615349
Trichothiodystrophy 2, Photosensitive	Coarse hair, Tiger tail banding	OMIM:616390
Naxos Disease	Subungual hyperkeratosis, Acantholysis, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Palm...	OMIM:601214
Chikungunya	Macule, Maculopapular exanthema, Skin rash, Pruritus, Erythema nodosum, Erythema, Crusting erythe...	ORPHA:324625
De Barsy Syndrome	Progeroid facial appearance, Prominent veins on trunk, Cutis laxa, Excessive wrinkled skin, Thin ...	ORPHA:2962
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Nail dystrophy, Trichodysplasia, Congen...	ORPHA:2890
Ectodermal Dysplasia/Short Stature Syndrome	Hyperkeratosis, Sensorineural hearing impairment, Palmoplantar keratoderma, Epidermal acanthosis	OMIM:616029
Xeroderma Pigmentosum, Complementation Group F	Cutaneous photosensitivity, Erythema, Hearing impairment, Decreased body weight	OMIM:278760
Giant Axonal Neuropathy 1, Autosomal Recessive	Curly hair	OMIM:256850
Neonatal Lupus Erythematosus	Parakeratosis, Skin rash, Maculopapular exanthema, Hyperkeratosis, Erythematous plaque, Cutaneous...	ORPHA:398124
Myoectodermal Gonadal Dysgenesis Syndrome	Small for gestational age, Single transverse palmar crease, Posteriorly rotated ears, Bifid dista...	OMIM:618419
Braddock-Carey Syndrome 1	Sparse hair, Curly hair	OMIM:619980
Fountain Syndrome	Metaphyseal dysplasia, Coarse metaphyseal trabecularization, Cutis marmorata, Sensorineural heari...	ORPHA:3219
Congenital Lethal Erythroderma	Congenital exfoliative erythroderma, Death in infancy, Urticaria, Ichthyosis, Dry skin	ORPHA:1954
Pachyonychia Congenita	Epidermoid cyst, Linear arrays of macular hyperkeratoses in flexural areas, Palmoplantar keratode...	ORPHA:2309
Netherton Syndrome	Parakeratosis, Recurrent skin infections, Eczema, Angioedema, Urticaria, Congenital nonbullous ic...	OMIM:256500
Immunodeficiency 23	Recurrent respiratory infections, Recurrent staphylococcal infections, Severe varicella zoster in...	OMIM:615816
Mycetoma	Recurrent bacterial skin infections, Prominent superficial veins, Subcutaneous nodule, Cobbleston...	ORPHA:2583
Inflammatory Skin And Bowel Disease, Neonatal, 1	Pustule, Perianal erythema, Perioral erythema, Erythroderma	OMIM:614328
Linear Verrucous Nevus Syndrome	Hyperkeratosis, Verrucous papule	ORPHA:2611
Ectodermal Dysplasia 13, Hair/Tooth Type	Brittle hair, Sparse eyelashes, Low anterior hairline, Thin eyebrow	OMIM:617392
Syndromic Recessive X-Linked Ichthyosis	Hyperkeratosis, Ichthyosis	ORPHA:281090
Palmoplantar Carcinoma, Multiple Self-Healing	Parakeratosis, Epidermal acanthosis, Ectodermal dysplasia, Palmoplantar keratoderma, Finger joint...	OMIM:615225
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Retinal telangiectasia, Premature graying of hair, Thin skin, Gastrointestinal telangiectasia, De...	OMIM:612199
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric...	OMIM:225060
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Aplasia cutis congenita on trunk or limbs, Recurrent skin infections, Erythema, Fragile skin, Atr...	ORPHA:79396
Graft Versus Host Disease	Dupuytren contracture, Limited elbow movement, Jaundice, Recurrent infections, Scaling skin, Recu...	ORPHA:39812
Restrictive Dermopathy	Epidermal hyperkeratosis, Scaling skin, Dermal atrophy, Skin erosion, Generalized hyperkeratosis,...	ORPHA:1662
Noonan Syndrome 8	Large for gestational age, Hyperkeratosis, Low-set ears, Palmoplantar cutis laxa, Failure to thrive	OMIM:615355
Hidrotic Ectodermal Dysplasia, Halal Type	Multiple cafe-au-lait spots, Follicular hyperkeratosis	ORPHA:1809
Complex Regional Pain Syndrome	Edema of the upper limbs, Erythema, Dry skin	ORPHA:83452
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Parakeratosis, Pruritus, Jaundice, Ichthyosis, Orthokeratosis, Dry skin	OMIM:607626
Bacterial Toxic-Shock Syndrome	Recurrent urinary tract infections, Severe varicella zoster infection, Severe infection, Severe v...	ORPHA:36234
Sting-Associated Vasculopathy, Infantile-Onset	Recurrent respiratory infections, Cutis marmorata, Erythema, Livedo reticularis, Telangiectasia, ...	OMIM:615934
Subcorneal Pustular Dermatosis	Pruritus, Erythema, Pustule	ORPHA:48377
Mpdu1-Cdg	Scaling skin, Ichthyosis	ORPHA:79323
Immunodeficiency, Common Variable, 8, With Autoimmunity	Recurrent respiratory infections, Psoriasiform lesion, Recurrent pneumonia, Sepsis, Recurrent inf...	OMIM:614700
Glycosylphosphatidylinositol Biosynthesis Defect 25	Sparse hair, Coarse hair	OMIM:619985
Donohue Syndrome	Recurrent infections, Hyperkeratosis, Large hands, Severe failure to thrive, Low-set ears, Acanth...	OMIM:246200
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Finger syndactyly, Brachydactyly, Abnormality of the elbow, Hy...	ORPHA:1005
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Dermal translucency	ORPHA:541423
Neutrophilic Dermatosis, Acute Febrile	Cystic acne, Erythema, Pyoderma gangrenosum, Acne inversa	OMIM:608068
Kindler Epidermolysis Bullosa	Aplasia/Hypoplasia of the skin, Recurrent skin infections, Erythema, Atypical scarring of skin, H...	ORPHA:2908
Ectodermal Dysplasia-Blindness Syndrome	Recurrent respiratory infections, Skin ulcer, Protruding ear, Hyperkeratosis, Hearing impairment	ORPHA:1806
Warburg-Cinotti Syndrome	Hypoplasia of the ear cartilage, Posteriorly rotated ears, Poor wound healing, Erythema, Elbow fl...	OMIM:618175
Noonan Syndrome 7	Curly hair, Low posterior hairline	OMIM:613706
Costello Syndrome	Low-set, posteriorly rotated ears, Failure to thrive in infancy, Redundant skin, Lack of skin ela...	ORPHA:3071
Snakebite Envenomation	Ecchymosis, Localized skin lesion, Erythema, Angioedema	ORPHA:449285
Riddle Syndrome	Conjunctival telangiectasia, Recurrent viral infections, Erythema, Recurrent pneumonia, Telangiec...	ORPHA:420741
Amaurosis-Hypertrichosis Syndrome	Abnormal eyelash morphology, Synophrys, Coarse hair, Thick eyebrow	ORPHA:1021
Autoinflammation With Arthritis And Dyskeratosis	Epidermal acanthosis, Dry skin, Palmoplantar hyperkeratosis, Follicular hyperkeratosis, Failure t...	OMIM:617388
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Preauricular pit, Cafe-au-lait spot, Thin skin, Dermal translucency	OMIM:617506
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Rhizomelia, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, Metaphyseal cupping of me...	ORPHA:163966
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Bronchiolitis, Recurrent sinopulmonary infections, Erythema	OMIM:614878
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Failure to thrive in infancy, Cutis marmorata, Recurrent pneumonia, Clubbing, Hyperkeratosis	OMIM:301220
Smith-Kingsmore Syndrome	Curly hair	OMIM:616638
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Atrophic scars, Bruising susceptibility, Thin skin, Dermal translucency	ORPHA:536467
Toxic Epidermal Necrolysis	Macule, Erythema, Skin ulcer, Acantholysis	ORPHA:537
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Curly hair, Thick eyebrow, Highly arched eyebrow, Low posterior hairline	OMIM:617360
Spinocerebellar Ataxia 34	Erythroderma, Epidermal hyperkeratosis	OMIM:133190
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Perianal erythema, Dry skin, Recurrent candida infections, Perioral erythema, Failure to thrive	OMIM:201100
Milroy Disease	Hyperkeratosis, Erysipelas	ORPHA:79452
Hyperimmunoglobulinemia D With Periodic Fever	Erythema, Urticaria, Acrocyanosis, Papule, Purpura	ORPHA:343
Barber-Say Syndrome	Redundant skin, Dermal atrophy, Premature skin wrinkling, Dry skin, Dermal translucency	OMIM:209885
Poikiloderma With Neutropenia	Plantar hyperkeratosis, Skin rash, Telangiectasia, Hyperkeratosis, Palmoplantar keratoderma, Derm...	OMIM:604173
Ullrich Congenital Muscular Dystrophy 1	Protruding ear, Talipes equinovarus, Follicular hyperkeratosis, Increased laxity of fingers, Recu...	OMIM:254090
Trichothiodystrophy 4, Nonphotosensitive	Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Nail dystrophy, Small ...	OMIM:234050
Immunoglobulin A Vasculitis	Macule, Skin rash, Pustule, Angioedema, Erythema, Skin ulcer, Urticaria, Bruising susceptibility,...	ORPHA:761
Trichothiodystrophy 1, Photosensitive	Small for gestational age, Macrotia, Protruding ear, Telangiectasia, Hyperkeratosis, Cutaneous ph...	OMIM:601675
Mednik Syndrome	Death in infancy, Erythema, Ichthyosis, Death in childhood, Neonatal death	OMIM:609313
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Curly hair	OMIM:300986
Rothmund-Thomson Syndrome Type 2	Plantar hyperkeratosis, Porokeratosis, Short metacarpal, Aplasia/hypoplasia involving bones of th...	ORPHA:221016
Noonan Syndrome 4	Sparse eyebrow, Curly hair, High anterior hairline	OMIM:610733
Ritscher-Schinzel Syndrome 4	Curly hair	OMIM:619435
Incontinentia Pigmenti	Finger syndactyly, Telangiectasia of the skin, Camptodactyly of finger, Abnormal hand morphology,...	ORPHA:464
Stevens-Johnson Syndrome	Macule, Erythema, Acantholysis	ORPHA:36426
Congenital Disorder Of Glycosylation, Type Iil	Postaxial polydactyly, Dry skin, Recurrent infections, Hyperkeratosis, Failure to thrive	OMIM:614576
Incontinentia Pigmenti	Hyperkeratosis, Erythema, Maculopapular exanthema, Pallor	OMIM:308300
Chops Syndrome	Curly hair, Thick hair, Synophrys, Coarse hair, Long eyelashes, Thick eyebrow	OMIM:616368
Kanzaki Disease	Telangiectasia of the oral mucosa, Lip telangiectasia, Angiokeratoma corporis diffusum, Hyperkera...	OMIM:609242
Noonan Syndrome 14	Sparse hair, Curly hair, Sparse eyebrow, Low posterior hairline	OMIM:619745
Huriez Syndrome	Congenital palmoplantar hyperkeratosis, Epidermal acanthosis, Tapered finger	OMIM:181600
Chime Syndrome	Aplasia/Hypoplasia of the phalanges of the hand, Erythema, Clubbing of toes, Skin ulcer, Aplasia/...	ORPHA:3474
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Curly hair	ORPHA:457485
Neonatal Inflammatory Skin And Bowel Disease	Recurrent bacterial skin infections, Erythema, Scaling skin, Recurrent gastroenteritis, Generaliz...	ORPHA:294023
Hereditary Mucoepithelial Dysplasia	Hyperkeratosis	ORPHA:1839
Hypohidrotic Ectodermal Dysplasia	Hyperkeratosis, Dry skin, Eczema, Thin skin	ORPHA:238468
Aicardi-Goutieres Syndrome 1	Chilblains, Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura	OMIM:225750
Drug Reaction With Eosinophilia And Systemic Symptoms	Macule, Skin rash, Pustule, Angioedema, Erythema, Erythroderma	ORPHA:139402
Pituitary Adenoma 4, Acth-Secreting	Poor wound healing, Obesity, Facial erythema, Abdominal obesity, Ecchymosis, Bruising susceptibil...	OMIM:219090
Punctate Palmoplantar Keratoderma Type 1	Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Breast carcinoma, Eso...	ORPHA:79501
Microscopic Polyangiitis	Skin rash, Cutis marmorata, Subcutaneous nodule, Erythema, Skin ulcer, Subcutaneous hemorrhage	ORPHA:727
Werner Syndrome	Aplasia/Hypoplasia of the skin, Miscarriage, Prematurely aged appearance, Telangiectasia of the s...	ORPHA:902
Sialidosis Type 1	Hyperkeratosis, Vascular skin abnormality	ORPHA:812
Tyrosinemia Type 2	Hyperkeratosis, Palmoplantar keratoderma	ORPHA:28378
Pachyonychia Congenita 3	Chapped lip, Plantar hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Palmar ...	OMIM:615726
Oculodentodigital Dysplasia	Curly hair, Brittle hair, Abnormal fingernail morphology, Slow-growing hair, Fine hair, Sparse ha...	ORPHA:2710
Familial Tumoral Calcinosis	Skin rash, Subcutaneous nodule, Erythema, Hypopigmented skin patches, Periarticular subcutaneous ...	ORPHA:53715
Fontaine Progeroid Syndrome	Reduced subcutaneous adipose tissue, Death in infancy, Prominent superficial veins, Prematurely a...	OMIM:612289
Acrodermatitis Enteropathica	Erythema, Dry skin, Skin ulcer, Weight loss, Failure to thrive, Generalized abnormality of skin	ORPHA:37
Porphyria Cutanea Tarda	Recurrent bacterial skin infections, Poor wound healing, Scaling skin, Cutaneous photosensitivity...	ORPHA:101330
Tricho-Retino-Dento-Digital Syndrome	Uncombable hair, Sparse hair	ORPHA:1264
Rheumatic Fever	Subcutaneous nodule, Erythema, Pallor, Macule	ORPHA:3099
Arthrogryposis And Ectodermal Dysplasia	Atypical scarring of skin, Hyperkeratosis, Ectodermal dysplasia, Dry skin	OMIM:601701
Localized Scleroderma	Cutaneous sclerotic plaque, Thickened skin, Localized skin lesion, Erythema, Hypopigmented skin p...	ORPHA:90289
Lig4 Syndrome	Clinodactyly of the 5th finger, Cutaneous photosensitivity, Erythema, Telangiectasia of the skin	ORPHA:99812
Adult-Onset Still Disease	Pruritus, Erythema, Skin rash	ORPHA:829
Trichohepatoenteric Syndrome 1	Curly hair, Brittle hair, Fine hair, Sparse hair, Woolly hair, Trichorrhexis nodosa	OMIM:222470
Epidermodysplasia Verruciformis, Susceptibility To, 4	Facial erythema	OMIM:618307
Trichohepatoneurodevelopmental Syndrome	Curly hair, Synophrys, Coarse hair, Long eyelashes, Hypoplastic nipples, Woolly hair, Thoracic hy...	OMIM:618268
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Ichthyosis follicularis, Subungual hyperkeratosis, Perianal erythema, Postaxial hand polydactyly,...	OMIM:308205
Trichohepatoenteric Syndrome 2	Brittle hair, Uncombable hair, Sparse hair, Woolly hair, Trichorrhexis nodosa	OMIM:614602
Gaucher Disease, Perinatal Lethal	Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis, Neonatal death, Pet...	OMIM:608013
Rothmund-Thomson Syndrome Type 1	Plantar hyperkeratosis, Porokeratosis, Short metacarpal, Small for gestational age, Metaphyseal s...	ORPHA:221008
Bazex-Dupre-Christol Syndrome	Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Trichorrhexis nodosa	OMIM:301845
Inflammatory Skin And Bowel Disease, Neonatal, 2	Failure to thrive, Epidermal acanthosis, Recurrent bronchiolitis, Recurrent pneumonia	OMIM:616069
Cardiofaciocutaneous Syndrome 1	Absent eyebrow, Curly hair, Slow-growing hair, Absent eyelashes, Low posterior hairline, Sparse hair	OMIM:115150
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Curly hair	ORPHA:85184
Nodular Non-Suppurative Panniculitis	Subcutaneous nodule, Aplasia/Hypoplasia of the skin, Erythema	ORPHA:33577
Craniofrontonasal Syndrome	Ridged nail, Curly hair, Split nail, Widow's peak, Low posterior hairline, Unilateral breast hypo...	OMIM:304110
Ifap Syndrome 2	Ichthyosis follicularis, Perioral erythema	OMIM:619016
Autosomal Dominant Cutis Laxa	Redundant neck skin, Prematurely aged appearance, Redundant skin, Cutis laxa, Premature skin wrin...	ORPHA:90348
Juvenile Dermatomyositis	Skin rash, Telangiectasia of the skin, Pruritus, Erythema, Skin ulcer, Cutaneous photosensitivity...	ORPHA:93672
Fibromuscular Dysplasia, Multifocal	Atrophic scars, Striae distensae, Dermal translucency	OMIM:619329
Chronic Graft Versus Host Disease	Poor wound healing, Thickened skin, Erythema, Intermittent generalized erythematous papular rash,...	ORPHA:99921
Leukocyte Adhesion Deficiency Type Ii	Skin vesicle	ORPHA:99843
Bloom Syndrome	Syndactyly, Small for gestational age, Recurrent upper respiratory tract infections, Facial eryth...	OMIM:210900
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Woolly hair	OMIM:611528
Odontotrichoungual-Digital-Palmar Syndrome	Nail dystrophy, Nail dysplasia, Abnormality of hair texture	OMIM:601957
Kcnq2-Related Epileptic Encephalopathy	Pallor, Facial erythema	ORPHA:439218
Pachyonychia Congenita 2	Subungual hyperkeratosis, Folliculitis, Epidermoid cyst, Palmoplantar hyperkeratosis	OMIM:167210
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Pustule, Hyperkeratosis, Skin rash	OMIM:612852
Cardiofaciocutaneous Syndrome	Low-set, posteriorly rotated ears, Failure to thrive in infancy, Abnormal morphology of ulna, Red...	ORPHA:1340
Oculocutaneous Albinism Type 1A	Hyperkeratosis, Thickened skin	ORPHA:79431
Focal Dermal Hypoplasia	Finger syndactyly, Toe syndactyly, Telangiectasia of the skin, Abnormal palmar dermatoglyphics, C...	ORPHA:2092
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Recurrent respiratory infections, Camptodactyly of finger, Abnormality of the hand, Macrotia, Ery...	ORPHA:2273
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair	ORPHA:2221
Fg Syndrome 3	Sparse hair, Frontal upsweep of hair, Fine hair	OMIM:300406
Rat-Bite Fever	Sepsis, Meningitis, Scaling skin, Weight loss	ORPHA:31205
Fucosidosis	Acrocyanosis, Generalized hyperkeratosis, Vascular skin abnormality	ORPHA:349
Parkes Weber Syndrome	Abnormal femoral metaphysis morphology, Prominent superficial blood vessels, Skin ulcer, Hypertro...	ORPHA:90307
Kikuchi-Fujimoto Disease	Macule, Erythematous macule, Skin rash, Pruritus, Pustule, Skin nodule, Erythema, Skin plaque, Cu...	ORPHA:50918
Epidermodysplasia Verruciformis, Susceptibility To, 3	Palmar pits, Epidermal acanthosis	OMIM:618267
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Hyperkeratosis, Nevus	OMIM:620189
Restrictive Dermopathy 1	Prominent superficial blood vessels, Rocker bottom foot, Epidermal hyperkeratosis, Scaling skin, ...	OMIM:275210
Premature Aging Syndrome, Penttinen Type	Prominent superficial veins, Prematurely aged appearance, Thickened skin, Skin nodule, Palmoplant...	OMIM:601812
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Erythema, Skin rash, Death in childhood	OMIM:618321
Craniofrontonasal Dysplasia	Abnormality of hair texture, Widow's peak, Low posterior hairline, Ridged fingernail, Woolly hair	ORPHA:1520
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Hand clenching, Erythema, Talipes equinovarus, Low-set ears	OMIM:614653
Wiedemann-Rautenstrauch Syndrome	Reduced subcutaneous adipose tissue, Prominent scalp veins, Recurrent skin infections, Increased ...	ORPHA:3455
Sunct Syndrome	Flushing, Facial erythema	ORPHA:57145
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Curly hair, Sparse scalp hair, Loose anagen hair, Long eyelashes, Sparse hair	OMIM:607721
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	Sparse hair, Brittle hair, Absent nipple, Absent hair	OMIM:614940
Proteasome-Associated Autoinflammatory Syndrome 1	Hallux valgus, Failure to thrive, Camptodactyly of finger, Progeroid facial appearance, Long fing...	OMIM:256040
Cutis Laxa, Autosomal Recessive, Type Ib	Cutis laxa, Dermal translucency	OMIM:614437
Trichothiodystrophy 8, Nonphotosensitive	Sparse hair, Woolly hair, Sparse eyebrow, Trichorrhexis nodosa	OMIM:619691
Trichothiodystrophy 6, Nonphotosensitive	Tiger tail banding, Brittle hair, Slow-growing hair	OMIM:616943
Progeroid Syndrome, Petty Type	Brittle hair, Abnormal hair morphology, Abnormality of the nail, Long eyelashes in irregular rows...	ORPHA:2963
Gcgr-Related Hyperglucagonemia	Necrolytic migratory erythema	ORPHA:438274
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Hyperkeratosis, Recurrent bacterial skin infections, Ichthyosis	OMIM:148210
Weaver Syndrome	Deep-set nails, Abnormal fingernail morphology, Thin nail, Hypoplastic toenails, Fine hair	ORPHA:3447
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Reduced subcutaneous adipose tissue, Hyperextensibility of the finger joints, Failure to thrive, ...	OMIM:619503
Tempi Syndrome	Telangiectasia, Facial erythema	ORPHA:284227
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Thickened skin, Skin ulcer, Protruding ear, Scaling skin, Dry skin	ORPHA:2526
Noonan Syndrome 2	Sparse eyebrow, Curly hair, Low posterior hairline	OMIM:605275
Bethlem Myopathy	Hyperkeratosis, Cigarette-paper scars	ORPHA:610
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Woolly hair	OMIM:607450
Noonan Syndrome 10	Sparse eyebrow, Curly hair	OMIM:616564
Osteopenia-Intellectual Disability-Sparse Hair Syndrome	Sparse scalp hair, Fine hair	ORPHA:2324
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Curly hair, Abnormal fingernail morphology, Thick hair, Highly arched eyebrow, Hypoplastic toenai...	ORPHA:444077
Trichothiodystrophy 5, Nonphotosensitive	Brittle hair, Slow-growing hair, Sparse eyebrow, Reduced hair sulfur content, Sparse hair, Tiger ...	OMIM:300953
Ehlers-Danlos Syndrome, Vascular Type	Cigarette-paper scars, Molluscoid pseudotumors, Ecchymosis, Bruising susceptibility, Fragile skin...	OMIM:130050
Ramon Syndrome	Hyperkeratosis, Angiokeratoma, Telangiectasia	OMIM:266270
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Sclerodactyly	OMIM:610644
Dermatomyositis	Aplasia/Hypoplasia of the skin, Telangiectasia of the skin, Pruritus, Erythema, Skin ulcer, Acroc...	ORPHA:221
Hemihyperplasia-Multiple Lipomatosis Syndrome	Hyperparakeratosis, Telangiectasia of the skin, Nevus, Seborrheic dermatitis	ORPHA:276280
Pearson Marrow-Pancreas Syndrome	Small for gestational age, Erythema, Recurrent infections, Pallor, Failure to thrive	OMIM:557000
Liver Disease, Severe Congenital	Blue nevus, Jaundice, Eczema, Dermal translucency	OMIM:619991
Loeys-Dietz Syndrome 1	Dermal translucency	OMIM:609192
Vulto-Van Silfhout-De Vries Syndrome	Widow's peak, Horizontal eyebrow, Fine hair	OMIM:615828
Angioedema, Hereditary, 1	Angioedema, Erythema	OMIM:106100
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Curly hair, Low anterior hairline, Long eyelashes, Horizontal eyebrow, High anterior hairline, Th...	OMIM:619950
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Macule, Skin rash, Hypermelanotic macule, Erythema, Bruising susceptibility, Erysipelas	ORPHA:32960
De Sanctis-Cacchione Syndrome	Parakeratosis, Hypermelanotic macule, Telangiectasia, Dermal atrophy, Cutaneous photosensitivity	OMIM:278800
Leprosy	Urticarial plaque, Hypopigmented macule, Skin nodule, Penetrating foot ulcers, Verrucous papule, ...	ORPHA:548
Vascular Ehlers-Danlos Syndrome	Macule, Prematurely aged appearance, Redundant skin, Telangiectasia of the skin, Subcutaneous nod...	ORPHA:286
Proteasome-Associated Autoinflammatory Syndrome 4	Erythema	OMIM:619183
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Coarse hair, Brittle hair, Nail dystrophy	ORPHA:75389
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	High anterior hairline, Long eyelashes, Fine hair	ORPHA:231137
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Alopecia, Brittle hair	ORPHA:50812
Hermansky-Pudlak Syndrome	Hyperkeratosis, Thickened skin, Bruising susceptibility, Melanocytic nevus	ORPHA:79430
Chand Syndrome	Curly hair, Nail dysplasia	ORPHA:1401
Adult Syndrome	Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Fine hair, Fingernail d...	ORPHA:978
Loeys-Dietz Syndrome 2	Striae distensae, Dermal translucency	OMIM:610168
Bone Marrow Failure Syndrome 3	Metaphyseal dysplasia, Cupped ear, Recurrent infections, Hyperkeratosis, Failure to thrive, Heari...	OMIM:617052
Eec Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Proximal placement of thumb, ...	ORPHA:1896
Behcet Syndrome	Erythema nodosum, Erythema	OMIM:109650
Rapp-Hodgkin Syndrome	Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Fine hair, Progressive...	OMIM:129400
Acrogeria	Fine hair	ORPHA:2500
Rodrigues Blindness	Sparse hair, Fine hair	OMIM:268320
Giant Axonal Neuropathy	Woolly hair, Pili canaliculi	ORPHA:643
Baller-Gerold Syndrome	Limited elbow movement, Patellar hypoplasia, Conductive hearing impairment, Hypoplasia of the uln...	OMIM:218600
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Uncombable hair, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Abnormal hair morphology	ORPHA:3082
Loeys-Dietz Syndrome 3	Atrophic scars, Bruising susceptibility, Striae distensae, Dermal translucency	OMIM:613795
Netherton Syndrome	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Abnormal hair morphology, Fine hair, Trichor...	ORPHA:634
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Inflammatory abnormality of the skin, Skin rash, Acantholysis, Skin ulcer, Atypical scarring of s...	ORPHA:95455
Melas	Failure to thrive, Erythema, Sensorineural hearing impairment	ORPHA:550
Sulfite Oxidase Deficiency, Isolated	Fine hair	OMIM:272300
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Poor wound healing, Excessive wrinkled skin, Molluscoid pseudotumors, Thin skin, Follicular hyper...	OMIM:225400
Chondrodysplasia Punctata, Autosomal Dominant	Hyperkeratosis with erythema	OMIM:118650
Trichodermodysplasia-Dental Alterations Syndrome	Sparse scalp hair, Brittle hair, Fine hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the...	ORPHA:3353
2Q32Q33 Microdeletion Syndrome	Sparse hair, Fine hair	ORPHA:251019
Blau Syndrome	Skin rash, Erythema nodosum, Erythema, Skin ulcer, Ichthyosis, Dry skin, Papule	ORPHA:90340
Urachal Cyst	Severe infection, Erythema	ORPHA:488
Leprechaunism	Reduced subcutaneous adipose tissue, Thickened skin, Protruding ear, Hyperkeratosis, Large hands,...	ORPHA:508
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Atrophic scars, Bruising susceptibility, Follicular hyperkeratosis, Cutis laxa	OMIM:614557
Zttk Syndrome	Sparse eyebrow, Curly hair, Broad eyebrow	OMIM:617140
Costello Syndrome	Deep-set nails, Curly hair, Thin nail, Concave nail, Sparse hair, Fragile nails	OMIM:218040
Brachycephaly, Trichomegaly, And Developmental Delay	Brittle hair, Highly arched eyebrow, Synophrys, Long eyelashes, Thick eyebrow	OMIM:617412
Menkes Disease	Sparse hair, Alopecia, Brittle hair	OMIM:309400
Mucopolysaccharidosis, Type Iiib	Synophrys, Coarse hair, Hirsutism	OMIM:252920
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Brachydactyly, Mesoaxial foot polydactyly, Overlapping toe, Broad hallux, Single transverse palma...	OMIM:612474
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Hyperkeratosis	OMIM:615510
Distal Duplication 6P	Abnormal eyelash morphology, Fine hair, Abnormal hair quantity	ORPHA:1745
Psoriasis-Related Juvenile Idiopathic Arthritis	Finger dactylitis, Abnormality of the wrist, Psoriasiform lesion, Toe dactylitis	ORPHA:85436
Cowden Syndrome	Macule, Subcutaneous nodule, Hypopigmented skin patches, Melanocytic nevus, Palmoplantar keratode...	ORPHA:201
Tonne-Kalscheuer Syndrome	Fine hair, Small nail, Concave nail	OMIM:300978
Mucopolysaccharidosis, Type Iiia	Synophrys, Coarse hair, Hirsutism	OMIM:252900
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Preaxial polydactyly, Femoral bowing, Short metacarp...	OMIM:210710
Cutis Laxa, Autosomal Recessive, Type Iia	Coarse hair, Brittle hair, Abnormality of hair texture	OMIM:219200
Mucopolysaccharidosis, Type Iiic	Synophrys, Coarse hair, Hirsutism, Hypertrichosis	OMIM:252930
Reactive Arthritis	Pustule, Hyperkeratosis	ORPHA:29207
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Fine hair	ORPHA:3236
Woodhouse-Sakati Syndrome	Bilateral sensorineural hearing impairment, Scaling skin, Protruding ear	ORPHA:3464
Hall-Riggs Syndrome	Coarse hair, Slow-growing hair, Thick hair	ORPHA:2107
Fabry Disease	Conjunctival telangiectasia, Telangiectasia of the skin, Angiokeratoma, Subcutaneous nodule, Hype...	ORPHA:324
Chronic Actinic Dermatitis	Cutaneous photosensitivity, Epidermal acanthosis	ORPHA:330064
Mucoepithelial Dysplasia, Hereditary	Chronic mucocutaneous candidiasis, Follicular hyperkeratosis	OMIM:158310
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Recurrent respiratory infections, Anomaly of lower limb diaphyses, Recurrent...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Recurrent respiratory infections, Anomaly of lower limb diaphyses, Recurrent...	ORPHA:363958
Focal Facial Dermal Dysplasia Type Iv	Abnormal epidermal morphology	ORPHA:398189
Jaberi-Elahi Syndrome	Brittle hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair	OMIM:617988
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Sparse hair, Fine hair	OMIM:616817
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Highly arched eyebrow, Low anterior hairline, Hirsutism, Woolly hair, Broad eyebrow	OMIM:619244
Familial Mediterranean Fever	Erysipelas, Erythema, Skin rash	ORPHA:342
X-Linked Intellectual Disability, Golabi-Ito-Hall Type	Dry hair, Brittle hair, Nail dystrophy	ORPHA:93947
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Sparse hair, Synophrys, Low anterior hairline, Fine hair	ORPHA:391408
19Q13.11 Microdeletion Syndrome	Supernumerary nipple, Fine hair, Sparse or absent eyelashes, Nail dysplasia, Sparse hair, Sparse ...	ORPHA:217346
Trichorhinophalangeal Syndrome, Type I	Slow-growing hair, Thin nail, Concave nail, Leukonychia, Fine hair, Thin eyebrow, Sparse hair, Sp...	OMIM:190350
Vipoma	Intermittent jaundice, Erythema, Subcutaneous lipoma, Weight loss	ORPHA:97282
Atypical Werner Syndrome	Failure to thrive, Prominent superficial veins, Prematurely aged appearance, Rocker bottom foot, ...	ORPHA:79474
6Q Terminal Deletion Syndrome	Hallux valgus, Low-set, posteriorly rotated ears, Obesity, Hyperkeratosis, Clinodactyly, Failure ...	ORPHA:75857
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Recurrent respiratory infections, Macrotia, Erythema, Fragile skin	OMIM:614748
Kyphoscoliotic Ehlers-Danlos Syndrome	Arachnodactyly, Abnormality of the hand, Poor wound healing, Sensorineural hearing impairment, Di...	ORPHA:536545
Microphthalmia With Linear Skin Defects Syndrome	Erythema, Abnormal earlobe morphology, Cleft earlobe, Failure to thrive, Hearing impairment	ORPHA:2556
Zollinger-Ellison Syndrome	Jaundice, Erythema, Weight loss	ORPHA:913
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Synophrys, Fine hair	OMIM:619428
Relapsing Polychondritis	Sensorineural hearing impairment, Erythema, Chondritis of pinna, Purpura	ORPHA:728
Fetal Hydantoin Syndrome	Coarse hair, Hypoplastic fingernail, Low posterior hairline	ORPHA:1912
Trichothiodystrophy 3, Photosensitive	Tiger tail banding, Brittle hair, Trichorrhexis nodosa	OMIM:616395
Glucagonoma	Skin rash, Necrolytic migratory erythema, Pruritus, Intermittent jaundice, Subcutaneous lipoma	ORPHA:97280
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Alopecia, Fine hair	ORPHA:228390
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Sparse eyebrow, Curly hair, Broad lateral eyebrow	ORPHA:500150
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Woolly hair	OMIM:610193
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Synophrys, Long eyelashes, Fine hair	OMIM:620250
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Concave nail, Absent eyelashes, Sp...	OMIM:305100
Revesz Syndrome	Nail pits, Fine hair, Nail dystrophy, Sparse hair, Ridged fingernail	OMIM:268130
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	Curly hair, Hypoplastic nipples, Hypertrichosis	ORPHA:480880
Gorlin-Chaudhry-Moss Syndrome	Coarse hair, Low anterior hairline, Generalized hirsutism	ORPHA:2095
Sympathetic Ophthalmia	Erythema, Tinnitus, Hearing impairment	ORPHA:79098
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Recurrent respiratory infections, Toe syndactyly, Split hand, Hyperkeratosis, Ectodermal dysplasi...	OMIM:129900
Lymphatic Filariasis	Hyperkeratosis	ORPHA:2035
Intellectual Disability, Buenos-Aires Type	Abnormal fingernail morphology, Hyperconvex thumb nails, Fine hair	ORPHA:3079
Kawasaki Disease	Palmoplantar erythema, Jaundice, Meningitis, Recurrent pharyngitis	ORPHA:2331
Spinocerebellar Ataxia-Dysmorphism Syndrome	Coarse hair	ORPHA:1185
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Sparse eyebrow, Hyperconvex fingernails...	ORPHA:1071
Cerebrofaciothoracic Dysplasia	Abnormal hair pattern, Synophrys, Low posterior hairline, Coarse hair, Thick eyebrow	ORPHA:1394
Cartilage-Hair Hypoplasia	Sparse eyelashes, Sparse facial hair, Sparse eyebrow, Fine hair, Sparse hair, Fair hair	OMIM:250250
Proteus Syndrome	Hallux valgus, Finger syndactyly, Macrodactyly, Cachexia, Metatarsus valgus, Thickened skin, Abno...	ORPHA:744
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Sparse eyebrow, Brittle hair	OMIM:618810
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Parakeratosis, Overlapping toe, Arachnodactyly, Single transverse palmar crease, Epidermal acanth...	ORPHA:83617
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Fine hair	ORPHA:363686
Scorpion Envenomation	Erythema, Purpura	ORPHA:466677
Mucopolysaccharidosis-Plus Syndrome	Synophrys, Low anterior hairline, Low posterior hairline, Coarse hair, Long eyelashes, Hirsutism	OMIM:617303
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Sparse hair, Aplasia/Hypoplasia of the eyebrow, Nail dysplasia, Fine hair	OMIM:614091
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Toe syndactyly, Split hand, Hyperkeratosis, Ectodermal dysplasia, Split foot, Ectrodactyly, Micro...	OMIM:604292
Koolen-De Vries Syndrome	Hypopigmentation of hair, Abnormality of hair texture	ORPHA:96169
Dyskeratosis Congenita, Autosomal Dominant 3	Premature graying of hair, Alopecia, Nail dysplasia, Fine hair	OMIM:613990
Frontonasal Dysplasia 2	Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Fine hair, Sparse hair	OMIM:613451
S-Adenosylhomocysteine Hydrolase Deficiency	Abnormality of hair texture	ORPHA:88618
Ogden Syndrome	Aplasia/Hypoplasia of the eyebrow, Fine hair	ORPHA:276432
Mandibuloacral Dysplasia With Type B Lipodystrophy	Sparse hair, Alopecia, Brittle hair	OMIM:608612
Trisomy 20P	Thick hair, Highly arched eyebrow, Low anterior hairline, Low posterior hairline, Coarse hair, Th...	ORPHA:261318
Orofaciodigital Syndrome Type 3	Abnormality of hair texture	ORPHA:2752
Galloway-Mowat Syndrome 9	Coarse hair	OMIM:619603
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Aplasia/Hypoplasia of the eyebrow, Aplastic/hypoplastic toenail, Supernumerary nipple, Fine hair	ORPHA:1812
Acrofacial Dysostosis, Catania Type	Coarse hair, Abnormal hair pattern	ORPHA:1786
Hallermann-Streiff Syndrome	Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Sparse hair, Sparse body...	ORPHA:2108
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Brittle hair	OMIM:236200
Argininosuccinic Aciduria	Dry hair, Brittle hair, Trichorrhexis nodosa	OMIM:207900
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Thick eyebrow, Fine hair	OMIM:614800
Craniolenticulosutural Dysplasia	Sparse hair, Coarse hair, Brittle hair	ORPHA:50814
Trichothiodystrophy	Ridged nail, Sparse scalp hair, Split nail, Brittle hair, Concave nail, Tiger tail banding, Alope...	ORPHA:33364
Schimke Immunoosseous Dysplasia	Coarse hair, Fine hair	OMIM:242900
Multiple Sulfatase Deficiency	Coarse hair, Thick eyebrow	ORPHA:585
Koolen-De Vries Syndrome	Fair hair, Abnormality of hair texture	OMIM:610443
Oculodentodigital Dysplasia, Autosomal Recessive	Sparse hair, Sparse eyelashes, Fine hair	OMIM:257850
Diamond-Blackfan Anemia 21	Synophrys, Coarse hair, Horizontal eyebrow, Widow's peak	OMIM:620072
Macrocephaly/Autism Syndrome	Coarse hair	OMIM:605309
Pseudoxanthoma Elasticum	Civatte bodies, Cutis laxa	OMIM:264800
2P15P16.1 Microdeletion Syndrome	Sparse eyebrow, Long eyelashes, Supernumerary nipple, Fine hair	ORPHA:261349
Cranioectodermal Dysplasia 3	Sparse hair, Short nail, Broad nail, Fine hair	OMIM:614099
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Orthokeratotic hyperkeratosis, Epidermal thickening, Thickened skin	ORPHA:73223
Mucopolysaccharidosis, Type Iiid	Synophrys, Hirsutism, Coarse hair, Facial hirsutism, Thick eyebrow	OMIM:252940
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Sparse hair, Coarse hair, Thick hair	ORPHA:357074
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Abnormality of hair texture	ORPHA:79351
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Sparse hair, Fine hair	ORPHA:251028
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	White hair, Fine hair	ORPHA:935
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Coarse hair, Nail dysplasia	OMIM:612394
Autosomal Recessive Faciodigitogenital Syndrome	Dry hair, Coarse hair, Hypopigmentation of hair, Widow's peak	ORPHA:1974
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Sparse hair, Brittle hair, Fine hair	OMIM:618891
Weaver Syndrome	Sparse hair, Thin nail, Deep-set nails, Fine hair	OMIM:277590
Oculodentodigital Dysplasia	Dry hair, Slow-growing hair, Fine hair, Sparse hair, Fragile nails	OMIM:164200
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Brittle hair	OMIM:619184
Syndromic Diarrhea	Hypopigmentation of hair, Brittle hair, Uncombable hair, Woolly hair, Trichorrhexis nodosa	ORPHA:84064
Mucopolysaccharidosis, Type Vii	Coarse hair, Thick eyebrow, Hirsutism	OMIM:253220
Genitopatellar Syndrome	Sparse scalp hair, Fine hair	ORPHA:85201
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Dry hair, Low anterior hairline	OMIM:618569
Nicolaides-Baraitser Syndrome	Absent eyebrow, Dry hair, Sparse scalp hair, Low anterior hairline, Low posterior hairline, Long ...	OMIM:601358
Hallermann-Streiff Syndrome	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair	OMIM:234100
Craniolenticulosutural Dysplasia	Sparse hair, Coarse hair, Brittle hair	OMIM:607812
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Aplasia/Hypoplasia of the eyebrow, Fine hair	ORPHA:2637
Dubowitz Syndrome	Sparse scalp hair, Abnormal fingernail morphology, Hypoplastic toenails, Low anterior hairline, F...	ORPHA:235
Cerebellofaciodental Syndrome	Sparse eyebrow, Fine hair	OMIM:616202
Ablepharon Macrostomia Syndrome	Absent eyebrow, Abnormal hair pattern, Absent eyelashes, Fine hair, Sparse hair, Breast hypoplasia	ORPHA:920
Lateral Meningocele Syndrome	Coarse hair	OMIM:130720
Opitz-Kaveggia Syndrome	Sparse hair, Frontal upsweep of hair, Fine hair	OMIM:305450
Scalp-Ear-Nipple Syndrome	Sparse axillary hair, Sparse pubic hair, Fine hair, Patchy alopecia, Breast aplasia, Nail dysplas...	OMIM:181270
Cerebellar-Facial-Dental Syndrome	Sparse hair, Sparse eyebrow, Fine hair	ORPHA:444072
Marshall-Smith Syndrome	Brittle hair, Highly arched eyebrow, Synophrys, Sparse hair, Thick eyebrow, Hypertrichosis	OMIM:602535
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Brittle hair	OMIM:616084
Adrenomyeloneuropathy	Frontal balding, Fine hair	ORPHA:139399
Mucopolysaccharidosis Type 3	Thick hair, Synophrys, Coarse hair, Generalized hirsutism, Hirsutism	ORPHA:581
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Sparse hair, Fine hair, Highly arched eyebrow, Low posterior hairline	OMIM:613563
Hajdu-Cheney Syndrome	Abnormal fingernail morphology, Synophrys, Low anterior hairline, Coarse hair, Generalized hirsut...	ORPHA:955
Mucolipidosis Type Ii	Dry hair, White hair, Fine hair	ORPHA:576
Orofaciodigital Syndrome Type 1	Sparse hair, Alopecia, Coarse hair, Brittle hair	ORPHA:2750
Mucolipidosis Ii Alpha/Beta	Sparse eyebrow, Brittle hair, Sparse hair	OMIM:252500
Cranioectodermal Dysplasia 1	Slow-growing hair, Short nail, Thin nail, Fine hair, Sparse hair	OMIM:218330
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Highly arched eyebrow, Fine hair, Hypoplastic nipples, Sparse hair, Sparse lateral eyebrow	OMIM:280000
Woodhouse-Sakati Syndrome	Sparse hair, Alopecia, Fine hair	OMIM:241080
Menkes Disease	Sparse hair, Woolly hair, Hypopigmentation of hair	ORPHA:565
Orofaciodigital Syndrome I	Sparse hair, Alopecia, Dry hair	OMIM:311200
Noonan Syndrome	Abnormal hair quantity, Coarse hair, Low posterior hairline	ORPHA:648
Lysinuric Protein Intolerance	Sparse hair, Fine hair	OMIM:222700
Cockayne Syndrome B	Sparse hair, Dry hair, Abnormal hair morphology	OMIM:133540
Cockayne Syndrome Type 3	Premature graying of hair, Dry hair	ORPHA:90324
Coffin-Siris Syndrome 1	Sparse scalp hair, Dry hair, Hypoplastic fifth fingernail, Lumbosacral hirsutism, Long eyelashes,...	OMIM:135900
Myhre Syndrome	Sparse hair, Thick eyebrow, Fine hair	OMIM:139210
Distal Deletion 12Q	Small nail, Fine hair	ORPHA:96149
Focal Dermal Hypoplasia	Ridged nail, Brittle hair, Supernumerary nipple, Patchy alopecia, Nail dystrophy, Hypoplastic nip...	OMIM:305600
Cockayne Syndrome A	Sparse hair, Dry hair	OMIM:216400
Occipital Horn Syndrome	Coarse hair, Pili torti	OMIM:304150
Ogden Syndrome	Sparse eyebrow, Long eyelashes, Fine hair	OMIM:300855
Autosomal Recessive Malignant Osteopetrosis	Abnormality of hair texture	ORPHA:667
Melnick-Needles Syndrome	Coarse hair, Frontal hirsutism	OMIM:309350
Oculocerebrorenal Syndrome Of Lowe	Sparse scalp hair, Fine hair	ORPHA:534
Cockayne Syndrome	Dry hair, Fine hair	ORPHA:191
Occipital Horn Syndrome	Coarse hair, Thick hair	ORPHA:198
Renpenning Syndrome 1	Sparse hair, Brittle hair, Sparse lateral eyebrow	OMIM:309500
Neuroocular Syndrome	Brittle hair, Highly arched eyebrow, Synophrys, Long eyelashes, Small nail, Distichiasis, Thick e...	OMIM:619539
Coffin-Lowry Syndrome	Hyperconvex fingernails, Coarse hair, Thick eyebrow, Highly arched eyebrow	OMIM:303600
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Brittle hair	OMIM:124000
Witteveen-Kolk Syndrome	Medial flaring of the eyebrow, Hyperconvex nail, Fine hair, High anterior hairline, Fragile nails	OMIM:613406
Noonan Syndrome 1	Woolly hair, Low posterior hairline	OMIM:163950
Alström Syndrome	Frontal balding, Hirsutism, Fine hair	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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