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 (4 diseases)
Human diseases predicted to be associated with Krt10 (727 diseases)

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

Disease	Matching phenotypes	Source
Ichthyosis, Cyclic, With Epidermolytic Hyperkeratosis	Congenital bullous ichthyosiform erythroderma, Ichthyosis, Erythema, Palmoplantar hyperkeratosis	OMIM:607602
Autosomal Dominant Epidermolytic Ichthyosis	Cutaneous photosensitivity, Hyperkeratosis, Ichthyosis, Skin ulcer, Palmoplantar keratoderma, Ery...	ORPHA:312
Epidermolytic Hyperkeratosis	Epidermal acanthosis, Scaling skin, Congenital bullous ichthyosiform erythroderma, Palmoplantar h...	OMIM:113800
Ichthyosis With Confetti	Congenital nonbullous ichthyosiform erythroderma, Decreased body weight, Palmoplantar hyperkerato...	OMIM:609165

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

Disease	Matching phenotypes	Source
Uncombable Hair Syndrome 3	Uncombable hair, Curly hair, Pili canaliculi	OMIM:617252
Pseudopili Annulati	Abnormality of hair texture, Abnormality of the scalp hair	OMIM:613241
Ringed Hair Disease	Abnormal hair pattern, Fine hair	ORPHA:169
Pili Bifurcati	Abnormality of hair texture, Abnormal hair morphology	ORPHA:720
Woolly Hair, Autosomal Recessive 3	Sparse scalp hair, Sparse hair, Sparse eyelashes, Trichorrhexis nodosa, Fine hair, Curly hair	OMIM:616760
Porokeratosis Plantaris Palmaris Et Disseminata	Generalized abnormality of skin, Palmoplantar hyperkeratosis, Annular cutaneous lesion, Skin plaq...	ORPHA:737
Pruritic Urticarial Papules And Plaques Of Pregnancy	Pruritis on hand, Eczematoid dermatitis, Pruritus on foot, Palmoplantar erythema, Palmar pruritus...	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
Porokeratosis Of Mibelli	Aplasia/Hypoplasia of the skin, Cutaneous photosensitivity, Hyperkeratosis, Porokeratosis, Pruritus	ORPHA:735
Ulerythema Ophryogenesis	Miscarriage, Dry skin, Follicular hyperkeratosis, Facial erythema, Contact dermatitis, Erythemato...	ORPHA:3406
Palmoplantar Keratoderma, Norrbotten Recessive Type	Palmoplantar keratoderma, Hyperkeratosis, Recurrent cutaneous fungal infections, Papule	OMIM:244850
Uncombable Hair Syndrome 2	Uncombable hair, Pili canaliculi	OMIM:617251
Darier Disease	Macule, Hypermelanotic macule, Acrokeratosis, Subungual hyperkeratotic fragments, Palmoplantar ke...	ORPHA:218
Epidermolysis Bullosa Simplex 1C, Localized	Hyperkeratosis, Milia	OMIM:131800
Hyperkeratosis-Hyperpigmentation Syndrome	Multiple cafe-au-lait spots, Cutaneous photosensitivity, Hyperkeratosis, Papule	ORPHA:1336
Ichthyosis, Congenital, Autosomal Recessive 14	Erythema, Hyperkeratosis, Scaling skin, Pruritus, Orthokeratotic hyperkeratosis	OMIM:617571
Erythrokeratodermia Variabilis Et Progressiva 4	Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Erythema, Palmoplantar hyperker...	OMIM:617526
Erythrokeratodermia Variabilis Et Progressiva 3	Palmoplantar keratoderma, Hyperkeratosis, Erythema, Hypergranulosis	OMIM:617525
Non-Epidermolytic Palmoplantar Keratoderma	Diffuse palmoplantar hyperkeratosis, Erythema, Papule, Pruritus, Skin ulcer	ORPHA:2337
Progressive Symmetric Erythrokeratodermia	Palmoplantar keratoderma, Erythema, Skin plaque	ORPHA:316
Hypotrichosis 4	Sparse scalp hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair, Alopecia, Uncombable hair	OMIM:146550
Ichthyosis, Cyclic, With Epidermolytic Hyperkeratosis	Congenital bullous ichthyosiform erythroderma, Ichthyosis, Erythema, Palmoplantar hyperkeratosis	OMIM:607602
Congenital Panfollicular Nevus	Hyperkeratosis, Verrucous papule, Skin nodule	ORPHA:139414
Familial Benign Chronic Pemphigus	Skin erosion, Erythema, Acantholysis, Hyperkeratosis, Skin vesicle	ORPHA:2841
Atrophoderma Vermiculata	Skin pit, Erythema, Follicular hyperkeratosis, Hypoplastic pilosebaceous units, Periauricular ski...	ORPHA:79100
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Pruritus, Skin vesicle, Skin fragility with non-scarring blistering, Parakeratosis, Erythema migrans	ORPHA:158681
Acquired Ichthyosis	Recurrent skin infections, Erythema, Dry skin, Papule, Hyperkeratosis, Ichthyosis, Pruritus, Palm...	ORPHA:454
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Skin erosion, Localized skin lesion, Fragile skin, Keloids, Milia, Atypical scarring of skin, Ery...	ORPHA:79410
Ichthyosis, Lamellar, Autosomal Dominant	Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Pruritus	OMIM:146750
Uncombable Hair Syndrome	Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair	ORPHA:1410
Krt1-Related Diffuse Nonepidermolytic Keratoderma	Onychomycosis, Diffuse palmoplantar hyperkeratosis, Decreased movement range in interphalangeal j...	ORPHA:530838
Mal De Meleda	Inflammatory abnormality of the skin, Erythema, Ichthyosis, Superficial dermal perivascular infla...	ORPHA:87503
Pemphigus Foliaceus	Skin erosion, Pustule, Erythema, Serpiginous cutaneous lesion, Annular cutaneous lesion, Acanthol...	ORPHA:79481
Keratosis, Focal Palmoplantar And Gingival	Subungual hyperkeratosis, Circumungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re...	OMIM:148730
Dowling-Degos Disease	Hypermelanotic macule, Epidermoid cyst, Generalized abnormality of skin, Palmar pits, Hypopigment...	ORPHA:79145
Uncombable Hair Syndrome 1	Uncombable hair, Dry hair, Pili canaliculi	OMIM:191480
Palmoplantar Keratoderma, Punctate Type Iii	Hyperkeratosis, Acrokeratosis	OMIM:101850
Ichthyosis, Congenital, Autosomal Recessive 13	Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis	OMIM:617574
Lichen Planus Pemphigoides	Skin vesicle, Hyperkeratosis, Pruritus	ORPHA:254478
Aquagenic Palmoplantar Keratoderma	Atopic dermatitis, Palmar pruritus, White papule, Skin plaque, Palmoplantar keratoderma, Excessiv...	ORPHA:498359
Witkop Syndrome	Sparse hair, Ridged nail, Fine hair, Concave nail, Nail pits, Small nail	OMIM:189500
Woolly Hair, Autosomal Dominant	Woolly hair, Coarse hair, Dry hair, Slow-growing hair, Abnormal hair morphology	OMIM:194300
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema	ORPHA:86923
Dowling-Degos Disease 2	Hyperkeratotic papule, Hypomelanotic macule, Follicular hyperkeratosis	OMIM:615327
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2	Palmoplantar keratoderma, Hyperkeratosis	OMIM:616400
Insulin-Resistance Syndrome Type A	Hyperkeratosis, Subcutaneous nodule	ORPHA:2297
Acrokeratosis Verruciformis	Hyperkeratosis, Acrokeratosis	OMIM:101900
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Hyperkeratosis, Fragile skin	OMIM:615028
Erythrokeratodermia Variabilis Et Progressiva 5	Hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:617756
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Hypermelanotic macule, Palmar hyperkeratosis, Plantar hyperkeratosis, Papule, Hyperkeratosis, Mil...	ORPHA:79399
Erythrokeratodermia Variabilis Et Progressiva 2	Palmoplantar keratoderma, Erythema	OMIM:617524
Palmoplantar Keratoderma And Congenital Alopecia 2	Sclerodactyly, Dry skin, Palmoplantar hyperkeratosis, Facial erythema, Hyperkeratosis	OMIM:212360
Erythrokeratoderma ''En Cocardes''	Hyperkeratosis, Papule	ORPHA:315
Iga Pemphigus	Skin erosion, Pustule, Generalized abnormality of skin, Annular cutaneous lesion, Acantholysis, S...	ORPHA:555905
Acrokeratoderma, Hereditary Papulotranslucent	Fine hair	OMIM:101840
Sjogren-Larsson-Like Ichthyosis Without Cns Or Eye Involvement	Hyperkeratosis, Congenital ichthyosiform erythroderma	OMIM:270220
Dermatoleukodystrophy	Hyperkeratosis, Thickened skin	ORPHA:1659
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	OMIM:144150
Cole Disease	Palmoplantar keratoderma, Hyperkeratosis, Hypergranulosis	OMIM:615522
Angioma Serpiginosum, Autosomal Dominant	Hyperkeratosis	OMIM:106050
Reticulate Acropigmentation Of Kitamura	Hyperkeratosis	OMIM:615537
Papillomatosis, Confluent And Reticulated	Hyperkeratosis	OMIM:167900
Palmoplantar Keratoderma-Deafness Syndrome	Palmoplantar keratoderma, Hyperkeratosis	ORPHA:2202
Elastosis Perforans Serpiginosa	Cutis laxa, Skin-colored papule, Serpiginous cutaneous lesion, Annular cutaneous lesion, Erythema...	ORPHA:79148
Anonychia With Flexural Pigmentation	Macular telangiectasia, Hyperkeratosis, Hypermelanotic macule, Follicular hyperkeratosis	ORPHA:69125
Classic Mycosis Fungoides	Skin rash, Eczema, Erythema, Dry skin, Hyperkeratosis, Skin plaque, Pruritus, Skin ulcer, Hypopig...	ORPHA:2584
Verrucous Hemangioma	Hyperkeratotic papule, Inflammatory abnormality of the skin, Skin plaque	ORPHA:464318
Ichthyosis, Congenital, Autosomal Recessive 8	Orthokeratosis, Erythema, Ichthyosis, Hyperkeratosis, Hypergranulosis	OMIM:613943
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Aplasia cutis congenita on trunk or limbs, Skin erosion, Palmoplantar hyperkeratosis, Hyperkerato...	ORPHA:89838
Hypotrichosis 6	Erythema, Pruritus, Follicular hyperkeratosis	OMIM:607903
Palmoplantar Keratoderma, Nagashima Type	Palmoplantar hyperhidrosis, Orthokeratotic hyperkeratosis, Hypergranulosis, Epidermal acanthosis	OMIM:615598
Superficial Epidermolytic Ichthyosis	Erythema, Acantholysis, Ichthyosis, Thin skin, Palmoplantar keratoderma	ORPHA:455
Mal De Meleda	Perioral erythema, Ichthyosis, Congenital symmetrical palmoplantar keratosis	OMIM:248300
Chand Syndrome	Nail dysplasia, Curly hair	OMIM:214350
Angioma Serpiginosum, X-Linked	Fine hair, Sparse hair, Nail dystrophy	OMIM:300652
Vulvovaginal Gingival Syndrome	Pruritus, Erythema, Skin erosion, Parakeratosis	ORPHA:83453
Trichodysplasia-Xeroderma Syndrome	Sparse scalp hair, Pili torti, Brittle hair, Alopecia, Sparse body hair, Sparse eyebrow, Coarse h...	ORPHA:3361
Marie Unna Hereditary Hypotrichosis	Sparse scalp hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Coarse hair, Sparse or absent eye...	ORPHA:444
Loose Anagen Hair Syndrome	Loose anagen hair, Fair hair, Sparse hair	OMIM:600628
Ichthyosis Hystrix Of Curth-Macklin	Diffuse palmoplantar hyperkeratosis, Ichthyosis, Hyperkeratosis, Recurrent skin infections	ORPHA:79503
Monilethrix	Nail dysplasia, Abnormality of hair texture, Sparse hair, Brittle hair, Alopecia, Nail dystrophy	OMIM:158000
Hyperkeratosis Lenticularis Perstans	Papule, Aplasia/Hypoplasia of the skin, Pruritus, Hyperkeratosis lenticularis perstans, Skin ulcer	ORPHA:409
Jessner Lymphocytic Infiltration Of The Skin	Erythema, Papule, Cutaneous photosensitivity, Skin plaque, Pruritus	ORPHA:33314
Peeling Skin Syndrome 5	Hyperkeratosis	OMIM:617115
Peeling Skin Syndrome 4	Epidermal acanthosis, Orthokeratosis, Ichthyosis, Hyperkeratosis, Scaling skin, Palmoplantar kera...	OMIM:607936
Autosomal Dominant Epidermolytic Ichthyosis	Cutaneous photosensitivity, Hyperkeratosis, Ichthyosis, Skin ulcer, Palmoplantar keratoderma, Ery...	ORPHA:312
Erythrokeratodermia Variabilis	Macule, Hypermelanotic macule, Skin rash, Erythema, Dry skin, Patchy palmoplantar hyperkeratosis,...	ORPHA:317
Keratoderma Hereditarium Mutilans With Ichthyosis	Epidermal acanthosis, Congenital nonbullous ichthyosiform erythroderma, Orthokeratosis, Parakerat...	ORPHA:79395
Cutaneous Mastocytoma	Telangiectasia of the skin, Flushing, Dermatographic urticaria, Hypermelanotic macule, Macule, Sk...	ORPHA:79455
Ichthyosis, Congenital, Autosomal Recessive 10	Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Erythroderma, Palmoplantar kera...	OMIM:615024
Chilblain Lupus	Discoid lupus rash, Pruritis on hand, Inflammatory abnormality of the skin, Skin rash, Cutis marm...	ORPHA:90280
Epidermolytic Hyperkeratosis	Epidermal acanthosis, Scaling skin, Congenital bullous ichthyosiform erythroderma, Palmoplantar h...	OMIM:113800
Dystrophic Epidermolysis Bullosa Pruriginosa	Subcutaneous nodule, Papule, Hyperkeratosis, Milia, Skin plaque, Pruritus, Atrophic scars, Dermal...	ORPHA:89843
Familial Reactive Perforating Collagenosis	Inflammatory abnormality of the skin, Perifolliculitis, Maculopapular exanthema, Erythematous pap...	ORPHA:79147
Hair Defect With Photosensitivity And Mental Retardation	Sparse hair, Sparse eyebrow, Brittle hair, Sparse eyelashes, Coarse hair	OMIM:234030
Keratosis Palmoplantaris Striata Ii	Palmoplantar keratoderma, Epidermal acanthosis	OMIM:612908
Epidermolysis Bullosa Dystrophica, Pretibial	Hyperkeratosis, Pruritus	OMIM:131850
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Erythema, Fragile skin, Palmoplantar hyperkeratosis, Cutaneous photosensitivity, Milia, Thin skin...	ORPHA:158673
Erythrokeratodermia Variabilis Et Progressiva 6	Pruritus, Erythematous plaque, Superficial dermal perivascular inflammatory infiltrate, Parakerat...	OMIM:618531
Pemphigus Vulgaris	Atypical scarring of skin, Urticaria, Acantholysis, Recurrent cutaneous abscess formation	ORPHA:704
Woolly Hair	Abnormality of hair texture, Woolly hair, Brittle hair, Sparse body hair, Hypopigmentation of hai...	ORPHA:170
Acral Peeling Skin Syndrome	Macule, Skin erosion, Eczema, Erythema, Excessive wrinkling of palmar skin, Papule, Ichthyosis, S...	ORPHA:263534
Ichthyosis, Congenital, Autosomal Recessive 6	Epidermal acanthosis, Congenital nonbullous ichthyosiform erythroderma, Orthokeratosis, Dry skin,...	OMIM:612281
Hypotrichosis 12	Sparse hair, Aplasia/Hypoplasia of the eyebrow, Dry hair, Sparse or absent eyelashes, Slow-growin...	OMIM:615885
Ectodermal Dysplasia 4, Hair/Nail Type	Pili torti, Absent eyebrow, Brittle hair, Alopecia, Sparse body hair, Temporal hypotrichosis, Con...	OMIM:602032
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Erythema, Hyperkeratosis, Ichthyosis, Pruritus, Palmoplantar keratoderma, Parakeratosis	OMIM:615821
Pili Torti	Pili torti, Abnormal eyebrow morphology, Abnormality of hair texture, Brittle hair, Alopecia, Abn...	ORPHA:2889
Sabinas Brittle Hair Syndrome	Nail dysplasia, Sparse hair, Brittle hair, Dry hair, Nail dystrophy	OMIM:211390
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome	Pili torti, Abnormality of hair texture, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyel...	ORPHA:2891
Bathing Suit Ichthyosis	Epidermal acanthosis, Congenital nonbullous ichthyosiform erythroderma, Palmoplantar hyperkeratos...	ORPHA:100976
Transgrediens Et Progrediens Palmoplantar Keratoderma	Recurrent bacterial skin infections, Palmar hyperkeratosis, Recurrent cutaneous fungal infections...	ORPHA:495
Erosive Pustular Dermatosis Of The Scalp	Pustule, Scarring alopecia of scalp, Erythema, Skin erosion	ORPHA:222
Erythema Elevatum Diutinum	Skin vesicle, Skin rash, Vasculitis in the skin, Skin nodule	ORPHA:90000
Pili Torti, Early-Onset	Pili torti, Hair shafts flattened at irregular intervals and twisted through 180 degrees about th...	OMIM:261900
Hypotrichosis And Recurrent Skin Vesicles	Skin vesicle, Follicular hyperkeratosis	OMIM:613102
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Hyperkeratosis	OMIM:618339
Sjögren-Larsson Syndrome	Urticaria, Erythema, Dry skin, Hyperkeratosis, Ichthyosis	ORPHA:816
Lipoid Proteinosis Of Urbach And Wiethe	Skin erosion, Papule, Hyperkeratosis, Skin plaque, Thickened skin	OMIM:247100
Ichthyosis, Congenital, Autosomal Recessive 3	Congenital nonbullous ichthyosiform erythroderma, Erythema, Hyperkeratosis, Ichthyosis, Palmoplan...	OMIM:606545
Parana Hard Skin Syndrome	Hyperkeratosis, Thickened skin	ORPHA:2812
Psoriasis 2	Epidermal acanthosis, Hyperkeratosis, Scaling skin, Parakeratosis	OMIM:602723
Hypotrichosis 8	Sparse scalp hair, Woolly hair, Fair hair, Sparse hair, Sparse axillary hair, Sparse eyelashes, S...	OMIM:278150
Darier-White Disease	Acrokeratosis, Hypermelanotic macule, Subungual hyperkeratotic fragments, Acantholysis, Pruritus,...	OMIM:124200
Dermatitis Herpetiformis	Macule, Urticaria, Eczema, Erythema, Pruritus, Skin vesicle	ORPHA:1656
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Epidermal acanthosis, Cutis laxa, Dry skin, Generalized hyperkeratosis, Scaling skin, Generalized...	ORPHA:2269
Ichthyosis, Congenital, Autosomal Recessive 5	Palmar hyperlinearity, Epidermal acanthosis, Congenital nonbullous ichthyosiform erythroderma, Or...	OMIM:604777
Hypotrichosis 14	Sparse body hair, Sparse hair	OMIM:618275
Onychogryposis, Pedal, With Keratosis Plantaris And Coarse Hair	Coarse hair, Dry hair, Sparse hair, Onychogryposis of toenails	OMIM:164680
Infantile Digital Fibromatosis	Hyperkeratosis, Parakeratosis, Skin nodule	ORPHA:199267
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears	Woolly hair, Sparse hair	OMIM:278200
Skin Fragility-Woolly Hair Syndrome	Failure to thrive, Palmoplantar erythema, Fragile skin, Palmoplantar hyperkeratosis, Palmoplantar...	OMIM:607655
Cutaneous Collagenous Vasculopathy	Macule, Vascular skin abnormality, Petechiae, Diffuse telangiectasia, Prominent superficial blood...	ORPHA:280779
Epidermolytic Palmoplantar Keratoderma	Epidermal acanthosis, Palmar hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Camptodactyly, ...	ORPHA:2199
Graham Little-Piccardi-Lassueur Syndrome	Pruritus, Perifollicular hyperkeratosis	ORPHA:505
Cutaneous Small Vessel Vasculitis	Urticaria, Skin rash, Recurrent skin infections, Cutis marmorata, Erythema, Papule, Purpura, Subc...	ORPHA:889
Ichthyosis With Confetti	Congenital nonbullous ichthyosiform erythroderma, Decreased body weight, Palmoplantar hyperkerato...	OMIM:609165
Ichthyosis, Spastic Quadriplegia, And Mental Retardation	Erythema, Dry skin, Ichthyosis, Hyperkeratosis, Scaling skin	OMIM:614457
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Palmoplantar keratoderma, Hyperkeratosis, Scaling skin, Epidermal acanthosis	OMIM:616295
Recessive X-Linked Ichthyosis	Ichthyosis, Hyperkeratosis, Dry skin	ORPHA:461
Pemphigus Erythematosus	Skin erosion, Localized skin lesion, Acantholysis, Erythematous plaque, Focal dermal aplasia/hypo...	ORPHA:79480
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism	Woolly scalp hair, Woolly hair, Alopecia	OMIM:601217
Idiopathic Localized Lipodystrophy	Reduced subcutaneous adipose tissue, Morphea, Inflammatory abnormality of the skin, Erythema, Scl...	ORPHA:90158
Pemphigoid Gestationis	Skin vesicle, Pruritus	ORPHA:63275
Necrobiosis Lipoidica	Telangiectasia of the skin, Inflammatory abnormality of the skin, Erythema, Fragile skin, Indurat...	ORPHA:542592
Pressure-Induced Localized Lipoatrophy	Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Erythema, Skin nodule	ORPHA:90160
Dermatofibrosarcoma Protuberans	Skin ulcer, Thickened skin, Erythema, Subcutaneous nodule	ORPHA:31112
Bazex Syndrome	Acanthosis nigricans, Hyperkeratosis, Scaling skin, Palmoplantar keratoderma, Parakeratosis	ORPHA:166113
Porokeratosis	Pruritus, Cutaneous photosensitivity, Hyperkeratosis, Dermal atrophy	ORPHA:79358
Dermatitis, Atopic	Recurrent skin infections, Pallor, Eczema, Atopic dermatitis, Dry skin, Facial erythema, Ichthyos...	OMIM:603165
Palmoplantar Keratoderma And Congenital Alopecia 1	Epidermal hyperkeratosis, Palmoplantar erythema, Plantar hyperkeratosis, Palmoplantar keratoderma	OMIM:104100
Cardiofaciocutaneous Syndrome 2	Fine hair, Sparse hair, Curly hair, Absent eyebrow	OMIM:615278
Vibratory Urticaria	Facial erythema, Urticaria, Flushing	OMIM:125630
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Angioma Serpiginosum	Macule, Vascular skin abnormality, Erythema	ORPHA:95429
Naxos Disease	Sparse scalp hair, Abnormality of hair texture, Woolly hair, Curly hair	ORPHA:34217
Panniculitis-Induced Localized Lipodystrophy	Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Vasculitis in the skin...	ORPHA:90159
Hypotrichosis Simplex Of The Scalp	Epidermal acanthosis, Hyperkeratosis, Scaling skin, Parakeratosis	ORPHA:90368
Ichthyosis, Congenital, Autosomal Recessive 11	Pili torti, Sparse hair, Brittle hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Curly ...	OMIM:602400
Erythema Of Acral Regions	Erythema, Talipes equinovarus	OMIM:227000
Alopecia Totalis	Alopecia, Alopecia of scalp	ORPHA:700
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Chronic furunculosis, Perifolliculitis, Acne inversa, Follicular hyperkeratosis, Recurrent cutane...	OMIM:613736
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Quinquaud Folliculitis Decalvans	Scarring alopecia of scalp, Erythema, Pustule, Recurrent skin infections	ORPHA:346
Maculopapular Cutaneous Mastocytosis	Macule, Flushing, Dermatographic urticaria, Generalized abnormality of skin, Erythema, Yellow pap...	ORPHA:79457
Lichen Planopilaris	Papule, Hyperkeratosis, Pruritus, Skin ulcer, Hypopigmented skin patches, Dermal atrophy	ORPHA:525
Rare Cutaneous Lupus Erythematosus	Telangiectasia of the skin, Urticaria, Vascular skin abnormality, Discoid lupus rash, Maculopapul...	ORPHA:535
Hypotrichosis 7	Sparse scalp hair, Woolly hair, Sparse hair, Brittle hair, Sparse axillary hair, Sparse eyelashes...	OMIM:604379
Congenital Disorder Of Glycosylation, Type If	Failure to thrive, Hyperkeratosis, Scaling skin, Dry skin	OMIM:609180
Cutaneous Photosensitivity And Colitis, Lethal	Early cutaneous photosensitivity, Erythema, Death in infancy	OMIM:219095
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Folliculitis, Dry skin, Follicular hyperkeratosis, Facial erythema, Palmoplantar keratoderma, Sca...	OMIM:308800
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Hypermelanotic macule, Palmar hyperkeratosis, Plantar hyperkeratosis, Cutaneous photosensitivity,...	ORPHA:79397
Warty Dyskeratoma	Epidermal thickening, Acrokeratosis, Localized skin lesion, Acantholysis, Umbilicated nodule, Ery...	ORPHA:69745
Ichthyosis, Congenital, Autosomal Recessive 2	Epidermal acanthosis, Short toe, Congenital nonbullous ichthyosiform erythroderma, Erythema, Hype...	OMIM:242100
Palmoplantar Keratoderma And Woolly Hair	Sparse scalp hair, Leukonychia, Woolly hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair	OMIM:616099
Crandall Syndrome	Pili torti, Brittle hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse body hair, Fine hair	ORPHA:202
Hypotrichosis 13	Abnormal sweat gland morphology, Woolly hair, Sparse hair, Sparse eyelashes	OMIM:615896
Ectodermal Dysplasia/Skin Fragility Syndrome	Fragile skin, Palmoplantar hyperkeratosis, Scaling skin, Palmoplantar blistering, Ectodermal dysp...	OMIM:604536
Intellectual Developmental Disorder, Fra12A Type	Erythroderma, Hyperkeratosis	OMIM:136630
Localized Epidermolysis Bullosa Simplex	Skin erosion, Palmar hyperkeratosis, Plantar hyperkeratosis, Milia, Erythematous papule, Skin pla...	ORPHA:79400
Wells Syndrome	Skin vesicle, Pruritus	ORPHA:901
Acrokeratoelastoidosis Of Costa	Orthokeratosis, Piezogenic pedal papules, Yellow papule, Palmoplantar hyperkeratosis, Skin plaque...	ORPHA:38
Monilethrix	Abnormal eyebrow morphology, Sparse hair, Patchy alopecia, Brittle hair, Abnormal eyelash morphol...	ORPHA:573
Erythema Nodosum, Familial	Erythema, Erythema nodosum	OMIM:132990
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Reduced subcutaneous adipose tissue, Facial telangiectasia in butterfly midface distribution, Epi...	OMIM:137940
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hypermelanotic macule, Multiple lentigines, Hyperkeratosis, Cafe-au-lait spot, Hypopigmented skin...	OMIM:145250
Acral Self-Healing Collodion Baby	Lack of skin elasticity, Erythema, Palmoplantar scaling skin, Localized epidermolytic hyperkeratosis	ORPHA:281127
Björnstad Syndrome	Brittle hair, Alopecia	ORPHA:123
Mastocytosis, Cutaneous	Telangiectasia macularis eruptiva perstans, Urticaria, Hypermelanotic macule, Erythema	OMIM:154800
Familial Keratoacanthoma	Skin ulcer, Hyperkeratosis, Papule, Subcutaneous nodule	ORPHA:493
Acrokeratosis Verruciformis Of Hopf	Hyperkeratosis, Skin plaque, Punctate palmoplantar hyperkeratosis, Skin-colored papule, Hypergran...	ORPHA:79151
Peeling Skin Syndrome 2	Erythema, Scaling skin	OMIM:609796
Pityriasis Rubra Pilaris	Pustule, Eczema, Subungual hyperkeratosis, Papule, Ichthyosis, Pruritus, Erythroderma, Palmoplant...	ORPHA:2897
Erythrokeratodermia Variabilis Et Progressiva 1	Erythroderma, Generalized hyperkeratosis, Hypergranulosis, Patchy palmoplantar hyperkeratosis	OMIM:133200
Copper Deficiency, Familial Benign	Early balding, Curly hair	OMIM:121270
Ichthyosis, Hystrix-Like, With Deafness	Palmoplantar hyperkeratosis, Hyperkeratosis, Ichthyosis, Erythroderma, Palmoplantar keratoderma, ...	OMIM:602540
Irida Syndrome	Pallor, Ichthyosis, Hyperkeratosis	ORPHA:209981
Keratosis Pilaris Atrophicans	Comedo, Erythema, Papule	OMIM:604093
Trichodental Dysplasia	Fine hair, Sparse hair, Brittle hair, Slow-growing hair	OMIM:601453
Keratolytic Winter Erythema	Palmoplantar hyperhidrosis, Erythema	OMIM:148370
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Pustule, Annular cutaneous lesion, Psoriasiform lesion, Erythematous plaque, Intermittent general...	ORPHA:284426
Pityriasis Rubra Pilaris	Orthokeratosis, Subungual hyperkeratosis, Erythematous plaque, Palmoplantar keratoderma, Hypergra...	OMIM:173200
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma	Congenital nonbullous ichthyosiform erythroderma, Linear arrays of macular hyperkeratoses in flex...	OMIM:601952
Prolidase Deficiency	Erythema, Dry skin, Papule, Aplasia/Hypoplasia of the skin, Cutaneous photosensitivity, Hyperkera...	ORPHA:742
Trichothiodystrophy 7, Nonphotosensitive	Congenital nonbullous ichthyosiform erythroderma, Ichthyosis, Follicular hyperkeratosis	OMIM:618546
Carvajal Syndrome	Woolly hair	ORPHA:65282
Psoriasis 14, Pustular	Psoriasiform dermatitis, Erythema, Pustule, Parakeratosis	OMIM:614204
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Orthokeratosis, Recurrent skin infections, Acantholysis, Erythroderma, Palmoplantar keratoderma, ...	OMIM:615508
Hidrotic Ectodermal Dysplasia	Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Absent eyebrow, Spa...	ORPHA:189
Singleton-Merten Syndrome 2	Hyperkeratosis	OMIM:616298
Orthostatic Hypotensive Disorder, Streeten Type	Facial erythema, Bruising susceptibility	OMIM:143850
Ichthyosis Vulgaris	Palmar hyperlinearity, Absent keratohyalin granules, Ichthyosis, Dry skin	OMIM:146700
Bjornstad Syndrome	Pili torti, Hair shafts flattened at irregular intervals and twisted through 180 degrees about th...	OMIM:262000
Focal Palmoplantar And Gingival Keratoderma	Gingival hyperkeratosis, Subungual hyperkeratosis, Palmoplantar keratoderma, Circumungual hyperke...	ORPHA:2200
Keratolytic Winter Erythema	Erythema, Pustule	ORPHA:50943
Epidermolysis Bullosa, Lethal Acantholytic	Acantholysis, Neonatal death, Aplasia cutis congenita, Skin erosion	OMIM:609638
Vohwinkel Syndrome, Variant Form	Orthokeratosis, Hyperkeratosis, Parakeratosis, Hypergranulosis	OMIM:604117
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2	Dermal translucency, Poor wound healing, Bruising susceptibility	OMIM:619120
Pyoderma Gangrenosum	Pustule, Papule, Atrophic scars, Skin ulcer, Skin vesicle	ORPHA:48104
Chromomycosis	Vascular skin abnormality, Verrucous papule, Erythematous macule, Hyperparakeratosis, Serpiginous...	ORPHA:182
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Dry skin, Follicular hyperkeratosis	OMIM:617066
Ectodermal Dysplasia 7, Hair/Nail Type	Sparse scalp hair, Sparse eyebrow, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland...	OMIM:614929
Dowling-Degos Disease 4	Epidermal acanthosis, Hypergranulosis	OMIM:615696
Ectodermal Dysplasia-Syndactyly Syndrome 2	Ectodermal dysplasia, Syndactyly, Follicular hyperkeratosis, Macrotia, Palmoplantar keratoderma, ...	OMIM:613576
Keratoderma Hereditarium Mutilans	Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Papule, Ichthyosis	ORPHA:494
Mycosis Fungoides	Eczema, Erythema, Skin plaque, Pruritus, Psoriasiform dermatitis	OMIM:254400
Chronic Mucocutaneous Candidiasis	Skin rash, Erythema, Papule, Hyperkeratosis, Pruritus, Skin ulcer	ORPHA:1334
Basan Syndrome	Epidermal acanthosis, Cutaneous syndactyly of toes, Tapered finger, Single transverse palmar crea...	OMIM:129200
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ...	OMIM:300918
Bullous Impetigo	Recurrent bacterial skin infections, Erythema, Pustule	ORPHA:36237
Porokeratosis 7, Multiple Types	Porokeratosis, Parakeratosis	OMIM:614714
Porokeratosis 1, Multiple Types	Porokeratosis, Parakeratosis	OMIM:175800
Lamellar Ichthyosis	Lack of skin elasticity, Dry skin, Hyperkeratosis, Ichthyosis, Pruritus, Erythroderma	ORPHA:313
Neuropathy, Hereditary Sensory, Type If	Hyperkeratosis	OMIM:615632
Ichthyosis Prematurity Syndrome	Dermatographic urticaria, Follicular hyperkeratosis, Pruritus, Erythroderma, Generalized ichthyosis	OMIM:608649
Peeling Skin Syndrome 6	Pruritus, Orthokeratosis, Parakeratosis	OMIM:618084
Onychotrichodysplasia And Neutropenia	Short eyelashes, Trichorrhexis nodosa, Curly eyelashes, Sparse pubic hair, Concave nail, Curly ha...	OMIM:258360
Hennekam-Beemer Syndrome	Telangiectasia of the skin, Urticaria, Macule, Erythema, Papule, Pruritus, Subcutaneous nodule, S...	ORPHA:2135
Tylosis With Esophageal Cancer	Diffuse palmoplantar hyperkeratosis, Parakeratosis	OMIM:148500
Choroidal Atrophy-Alopecia Syndrome	Sparse hair, Supernumerary nipple, Sparse or absent eyelashes, Abnormal fingernail morphology, Fi...	ORPHA:1433
Familial Cold Autoinflammatory Syndrome 3	Onychomycosis, Dermatographic urticaria, Erythema, Angioedema, Cold urticaria, Recurrent otitis m...	OMIM:614468
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Epidermal acanthosis, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar ke...	OMIM:148700
Moynahan Syndrome	Hyperkeratosis	ORPHA:2574
Erythrokeratodermia Variabilis Et Progressiva 7	Woolly hair, Dystrophic toenail	OMIM:619209
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
Olmsted Syndrome 2	Palmoplantar hyperkeratosis, Perioral hyperkeratosis, Hyperkeratosis, Pruritus, Palmoplantar kera...	OMIM:619208
Rothmund-Thomson Syndrome, Type 1	Cafe-au-lait spot, Hyperkeratosis	OMIM:618625
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Abnormal fingernail morphology, Fine hair, Abnormal toenail morphology, Abnormal hair m...	ORPHA:248
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Aplasia/Hypoplasia of the skin, Skin vesicle, Papule, Dermal atrophy	ORPHA:257
Immunodeficiency 58	Onychomycosis, Failure to thrive, Recurrent upper respiratory tract infections, Helicobacter pylo...	OMIM:618131
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Atrophic scars, Bruising susceptibility, Follicular hyperkeratosis	ORPHA:300179
Drug-Induced Localized Lipodystrophy	Reduced subcutaneous adipose tissue, Erythema	ORPHA:90157
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Dermal translucency, Poor wound healing, Bruising susceptibility	OMIM:619115
Sydenham Chorea	Recurrent streptococcus pneumoniae infections, Erythema	ORPHA:306731
Ichthyosis, Congenital, Autosomal Recessive 12	White scaling skin	OMIM:617320
Peeling Skin Syndrome 3	White scaling skin	OMIM:616265
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Erythema, Skin ulcer, Palmoplantar keratoderma, Skin fissure, Thickened skin	ORPHA:659
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Facial erythema, Palmoplantar keratoderma, Scarring alopecia of scalp, Folliculitis	OMIM:612843
Primary Erythromelalgia	Erythema, Pruritus	ORPHA:90026
Autosomal Dominant Hyper-Ige Syndrome	Skin rash, Eczema, Generalized abnormality of skin, Papule, Pruritus, Skin ulcer, Skin vesicle	ORPHA:2314
Ectodermal Dysplasia/Short Stature Syndrome	Hyperkeratosis	OMIM:616029
Bullous Pemphigoid	Urticaria, Weight loss, Erythema, Recurrent infections	ORPHA:703
Ichthyosis, Congenital, Autosomal Recessive 9	Congenital nonbullous ichthyosiform erythroderma, Orthokeratosis, Hyperkeratosis, Erythroderma, H...	OMIM:615023
Palmoplantar Keratoderma, Epidermolytic	Plantar hyperkeratosis, Localized epidermolytic hyperkeratosis, Palmar hyperkeratosis, Palmoplant...	OMIM:144200
Palmoplantar Keratoderma, Punctate Type Ia	Orthokeratosis, Hypergranulosis, Punctate palmoplantar hyperkeratosis	OMIM:148600
Rosaï-Dorfman Disease	Erythema, Papule, Subcutaneous nodule	ORPHA:158014
Seborrhea-Like Dermatitis With Psoriasiform Elements	Hyperkeratosis, Seborrheic dermatitis	OMIM:610227
Xeroderma Pigmentosum, Autosomal Dominant, Mild	Erythema	OMIM:194400
Porokeratosis 3, Multiple Types	Porokeratosis, Parakeratosis	OMIM:175900
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Woolly hair	OMIM:610476
Amyloidosis, Primary Localized Cutaneous, 1	Scaling skin, Dry skin, Cutis laxa	OMIM:105250
Dwarfism, Familial, With Muscle Spasms	Sparse scalp hair, Fine hair, Brittle scalp hair	OMIM:600771
Interstitial Granulomatous Dermatitis With Arthritis	Pruritus, Inflammatory abnormality of the skin, Erythema, Papule	ORPHA:79099
Lymphatic Malformation 4	Hyperkeratosis	OMIM:615907
Proteus Syndrome	Nevus, Epidermal nevus, Hyperkeratosis	OMIM:176920
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant	Recurrent fungal infections, Erythema, Chronic mucocutaneous candidiasis, Recurrent pneumonia, Re...	OMIM:147060
Olmsted Syndrome 1	Alopecia universalis, Sparse hair, Subungual hyperkeratosis, Nail dystrophy, Pruritus, Palmoplant...	OMIM:614594
Ichthyosis, Congenital, Autosomal Recessive 7	Palmoplantar keratoderma, Ichthyosis, Hypergranulosis, Epidermal acanthosis	OMIM:615022
Lipoid Proteinosis	Pustule, Subcutaneous nodule, Papule, Hyperkeratosis, Acne, Thickened skin	ORPHA:530
Corneodermatoosseous Syndrome	Abnormality of finger, Abnormality of the hand, Erythema, Brachydactyly, Abnormal metacarpal morp...	ORPHA:3194
Diffuse Cutaneous Mastocytosis	Urticaria, Dermatographic urticaria, Flushing, Generalized abnormality of skin, Darier's sign, Sc...	ORPHA:79456
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Plantar hyperkeratosis, Pruritus	OMIM:616487
Fixed Drug Eruption	Skin detachment, Skin erosion, Generalized abnormality of skin, Erythema, Erythematous plaque, Cr...	ORPHA:293812
Leopard Syndrome 3	Dry skin, Multiple lentigines, Numerous nevi, Hyperkeratosis, Epidermal hyperkeratosis, Few cafe-...	OMIM:613707
Aicardi-Goutieres Syndrome 5	Scaling skin, Dry skin	OMIM:612952
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Orthokeratosis, Acne inversa, Hypohidrosis, Hyperkeratosis, Nail dystrophy, Hypoplastic sweat glands	OMIM:617337
Odontoonychodermal Dysplasia	Orthokeratosis, Palmoplantar erythema, Plantar hyperkeratosis, Erythema, Dry skin, Follicular hyp...	OMIM:257980
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Sparse hair, Sparse eyebrow, Sparse eyelashes, Ridged nail, Fine hair, Slow-growing hair	OMIM:129490
Congenital Disorder Of Glycosylation, Type Iq	Cutis laxa, Eczema, Dry skin, Hyperkeratosis, Ichthyosis	OMIM:612379
Autosomal Erythropoietic Protoporphyria	Eczema, Cutaneous photosensitivity, Erythema, Pruritus	ORPHA:79278
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome	Dermal translucency	ORPHA:529965
Kid Syndrome	Recurrent candida infections, Failure to thrive, Recurrent bacterial skin infections, Epidermal a...	ORPHA:477
Hypodontia-Dysplasia Of Nails Syndrome	Hypoplastic toenails, Fragile nails, Ridged fingernail, Abnormal fingernail morphology, Hypoplast...	ORPHA:2228
Oculotrichodysplasia	Scaling skin, Dry skin	OMIM:257960
Centrifugal Lipodystrophy	Reduced subcutaneous adipose tissue, Lack of facial subcutaneous fat, Erythema, Scaling skin	ORPHA:90156
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Flushing, Eczematoid dermatitis, Redundant skin, Erythema, Palmoplantar hyperkeratosis, Seborrhei...	OMIM:259100
Granulomatous Slack Skin	Redundant skin, Erythema, Cutis laxa	ORPHA:33111
Porphyria Variegata	Skin erosion, Localized skin lesion, Cutaneous photosensitivity, Milia, Skin vesicle, Thickened skin	ORPHA:79473
Intellectual Developmental Disorder, Autosomal Dominant 34	Coarse hair, Curly hair, Synophrys	OMIM:616351
Sweet Syndrome	Pustule, Acne inversa, Acne, Erythematous plaque, Erythematous papule, Skin nodule, Skin vesicle,...	ORPHA:3243
Ichthyosis, Congenital, Autosomal Recessive 1	Congenital nonbullous ichthyosiform erythroderma, Palmoplantar hyperkeratosis, Ichthyosis, Erythr...	OMIM:242300
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Dry skin, Follicular hyperkeratosis, Postaxial hand polydactyly, Scaling skin, Hearing impairment...	OMIM:308205
Hypotrichosis With Juvenile Macular Degeneration	Melanocytic nevus, Hyperkeratosis	ORPHA:1573
Ramon Syndrome	Telangiectasia of the skin, Hyperkeratosis	ORPHA:3019
Cutis Laxa, Autosomal Recessive, Type Iiib	Cutis laxa, Excessive wrinkled skin, Prominent superficial veins, Thin skin, Dermal translucency	OMIM:614438
White Sponge Nevus 2	Hyperparakeratosis	OMIM:615785
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Fragile nails, Fine hair	ORPHA:500166
Mednik Syndrome	Ichthyosis, Hyperkeratosis	ORPHA:171851
Lethal Acantholytic Erosive Disorder	Abnormal pinna morphology, Clinodactyly of the 5th finger, Abnormal helix morphology, Camptodacty...	ORPHA:158687
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Flexion contracture of finger, Sclerodactyly, Poor wound healing, Unilateral deafness, Dry skin, ...	ORPHA:1010
Protoporphyria, Erythropoietic, 1	Eczema, Erythema, Pruritus	OMIM:177000
Bazex-Dupré-Christol Syndrome	Sparse scalp hair, Pili torti, Sparse hair, Sparse eyebrow, Coarse hair, Sparse or absent eyelash...	ORPHA:113
Hereditary Sensory And Autonomic Neuropathy Type 1	Skin ulcer, Poor wound healing, Hyperkeratosis, Penetrating foot ulcers	ORPHA:36386
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Nail dysplasia, Thick eyebrow, Facial hirsutism, Curly eyelashes, Multiple rows of eyelashes, Cur...	ORPHA:163654
Congenital Disorder Of Glycosylation, Type Im	Inflammatory abnormality of the skin, Dry skin, Ichthyosis, Hyperkeratosis, Death in infancy	OMIM:610768
Familial Cold Urticaria	Urticaria, Erythema, Pruritus	ORPHA:47045
Glutamine Deficiency, Congenital	Erythema, Micromelia, Camptodactyly, Low-set ears, Recurrent respiratory infections	OMIM:610015
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome	Hyperkeratotic papule, Palmoplantar keratoderma, Palmoplantar hyperkeratosis	ORPHA:2698
Dyskeratosis Congenita	Telangiectasia of the skin, Macule, Hypermelanotic macule, Aplasia/Hypoplasia of the skin, Palmop...	ORPHA:1775
X-Linked Dominant Chondrodysplasia Punctata	Sensorineural hearing impairment, Abnormal pinna morphology, Talipes equinovarus, Ichthyosis, Sca...	ORPHA:35173
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Recurrent candida infections, Failure to thrive, Recurrent upper respiratory tract infections, Re...	ORPHA:169154
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Acanthosis nigricans, Dry skin, Hyperkeratosis, Ichthyosis, Parakeratosis	OMIM:618527
Clouston Syndrome	Nail dysplasia, Sparse eyebrow, Alopecia, Brittle hair, Sparse eyelashes, Absent pubic hair, Alop...	OMIM:129500
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Orthokeratosis, Dry skin, Ichthyosis, Jaundice, Parakeratosis	OMIM:607626
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Recurrent fungal infections, Chronic oral candidiasis, Recurrent bacterial infections, Severe var...	OMIM:606367
Cardiofaciocutaneous Syndrome 4	Sparse hair, Absent eyebrow, Sparse eyelashes, Curly hair, Alopecia of scalp	OMIM:615280
Harlequin Ichthyosis	Erythroderma, Ichthyosis, Hyperkeratosis, Congenital ichthyosiform erythroderma	ORPHA:457
Amelo-Onycho-Hypohidrotic Syndrome	Hyperkeratosis, Dry skin	ORPHA:1028
Noonan Syndrome 6	Curly hair, Sparse hair, Low posterior hairline, Long eyebrows	OMIM:613224
Ectodermal Dysplasia-Skin Fragility Syndrome	Failure to thrive, Sepsis, Fragile skin, Follicular hyperkeratosis, Recurrent pneumonia, Scaling ...	ORPHA:158668
Ectodermal Dysplasia-Syndactyly Syndrome 1	Pili torti, Hypoplastic toenails, Sparse scalp hair, Patchy alopecia, Sparse eyelashes, Alopecia,...	OMIM:613573
Leopard Syndrome 2	Curly hair	OMIM:611554
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Sparse scalp hair, Sparse eyebrow, Alopecia, Dystrophic toenail, Fine hair, Dystrophic fingernails	ORPHA:1882
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Fine hair, Sparse hair	ORPHA:1174
Lymphatic Malformation 12	Hyperkeratosis, Death in adolescence, Neonatal death	OMIM:620014
Pilodental Dysplasia With Refractive Errors	Follicular hyperkeratosis, Ectodermal dysplasia	OMIM:262020
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Epidermal acanthosis, Orthokeratosis, Parakeratosis, Absent middle phalanx of 3rd finger, Absent ...	OMIM:308050
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Telangiectasia of the skin, Telangiectasia, Hyperkeratosis	ORPHA:79279
Noonan Syndrome 5	Curly hair, Fine hair, Sparse eyebrow, Small nail	OMIM:611553
Peeling Skin Syndrome 1	Palmoplantar hyperhidrosis, Scaling skin	OMIM:270300
Noonan Syndrome 9	Curly hair, Sparse eyebrow	OMIM:616559
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Hidrotic ectodermal dysplasia, Sensorineural hearing impairment, Arachnodactyly, Camptodactyly of...	ORPHA:1883
Polyarteritis Nodosa	Skin ulcer, Cutis marmorata, Weight loss, Erythema	ORPHA:767
Palmoplantar Carcinoma, Multiple Self-Healing	Epidermal acanthosis, Finger joint hypermobility, Follicular hyperkeratosis, Palmoplantar keratod...	OMIM:615225
Cardiofaciocutaneous Syndrome 3	Curly hair	OMIM:615279
Meige Disease	Recurrent bacterial skin infections, Skin erosion, Recurrent skin infections, Skin dimple, Atypic...	ORPHA:90186
Xeroderma Pigmentosum	Telangiectasia of the skin, Macule, Hypermelanotic macule, Erythema, Conjunctival telangiectasia,...	ORPHA:910
Chikungunya	Macule, Petechiae, Skin rash, Maculopapular exanthema, Erythema, Cutaneous photosensitivity, Crus...	ORPHA:324625
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse	Palmoplantar keratoderma, Plantar hyperkeratosis, Epidermal acanthosis	OMIM:615735
Pachyonychia Congenita 1	Palmoplantar hyperkeratosis, Follicular hyperkeratosis	OMIM:167200
Hereditary Acrokeratotic Poikiloderma	Telangiectasia of the skin, Urticaria, Pustule, Eczema, Erythema, Papule, Palmoplantar hyperkerat...	ORPHA:2907
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the skin, Papule, Telangiectasia of the oral mucosa, Lip telangiectasia, Hyperk...	ORPHA:79280
Trichothiodystrophy 2, Photosensitive	Coarse hair, Tiger tail banding	OMIM:616390
De Barsy Syndrome	Prominent veins on trunk, Progeroid facial appearance, Cutis laxa, Excessive wrinkled skin, Thin ...	ORPHA:2962
Myoectodermal Gonadal Dysgenesis Syndrome	Sensorineural hearing impairment, Small for gestational age, Overfolded helix, Bifid distal phala...	OMIM:618419
Neonatal Lupus Erythematosus	Skin rash, Maculopapular exanthema, Cutaneous photosensitivity, Hyperkeratosis, Erythematous plaq...	ORPHA:398124
Fountain Syndrome	Sensorineural hearing impairment, Short distal phalanx of finger, Metaphyseal dysplasia, Cutis ma...	ORPHA:3219
Pili Torti-Onychodysplasia Syndrome	Alopecia universalis, Absent eyebrow, Brittle hair, Alopecia, Sparse body hair, Congenital onycho...	ORPHA:2890
Netherton Syndrome	Urticaria, Congenital nonbullous ichthyosiform erythroderma, Angioedema, Erythroderma, Parakeratosis	OMIM:256500
Xeroderma Pigmentosum, Complementation Group F	Decreased body weight, Hearing impairment, Cutaneous photosensitivity, Erythema	OMIM:278760
Braddock-Carey Syndrome 1	Curly hair, Sparse hair	OMIM:619980
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Dry skin, Follicular hyperkeratosis	ORPHA:486815
Naxos Disease	Diffuse palmoplantar hyperkeratosis, Subungual hyperkeratosis, Fragile skin, Acantholysis, Hyperk...	OMIM:601214
Congenital Lethal Erythroderma	Urticaria, Congenital exfoliative erythroderma, Dry skin, Ichthyosis, Death in infancy	ORPHA:1954
Inflammatory Skin And Bowel Disease, Neonatal, 1	Pustule, Perioral erythema, Erythroderma, Perianal erythema	OMIM:614328
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Follicular hyperkeratosis	OMIM:277350
Linear Verrucous Nevus Syndrome	Hyperkeratosis, Verrucous papule	ORPHA:2611
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Aplasia cutis congenita on trunk or limbs, Recurrent skin infections, Generalized abnormality of ...	ORPHA:79396
Hawkinsinuria	Fine hair, Sparse hair	ORPHA:2118
Immunodeficiency 23	Sensorineural hearing impairment, Conductive hearing impairment, Failure to thrive, Vasculitis in...	OMIM:615816
Mycetoma	Recurrent bacterial skin infections, Cutaneous cyst, Prominent superficial veins, Subcutaneous no...	ORPHA:2583
Restrictive Dermopathy	Skin erosion, Epidermal hyperkeratosis, Generalized hyperkeratosis, Scaling skin, Dermal transluc...	ORPHA:1662
Pachyonychia Congenita	Cutaneous cyst, Palmar hyperkeratosis, Linear arrays of macular hyperkeratoses in flexural areas,...	ORPHA:2309
Popov-Chang syndrome	Failure to thrive, Clinodactyly of the 5th finger, Small hand, Dry skin, Hyperkeratosis, Short fo...	OMIM:618428
Syndromic Recessive X-Linked Ichthyosis	Ichthyosis, Hyperkeratosis	ORPHA:281090
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Nail dysplasia, Progressive hypotrichosis, Abnormality of hair texture, Sparse eyebrow, Sparse ey...	OMIM:225060
Bacterial Toxic-Shock Syndrome	Severe infection, Sepsis, Recurrent urinary tract infections, Severe varicella zoster infection, ...	ORPHA:36234
Mpdu1-Cdg	Ichthyosis, Scaling skin	ORPHA:79323
Graft Versus Host Disease	Recurrent gastroenteritis, Failure to thrive, Dupuytren contracture, Limited elbow movement, Recu...	ORPHA:39812
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Dermal translucency	ORPHA:541423
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Angioedema, Erythema	ORPHA:100057
Sting-Associated Vasculopathy, Infantile-Onset	Failure to thrive, Cutis marmorata, Erythema, Recurrent infections, Livedo reticularis, Telangiec...	OMIM:615934
Hidrotic Ectodermal Dysplasia, Halal Type	Multiple cafe-au-lait spots, Follicular hyperkeratosis	ORPHA:1809
Immunodeficiency, Common Variable, 8, With Autoimmunity	Failure to thrive, Sepsis, Recurrent sinusitis, Psoriasiform lesion, Recurrent infections, Recurr...	OMIM:614700
Noonan Syndrome 8	Failure to thrive, Palmoplantar cutis laxa, Large for gestational age, Hyperkeratosis, Low-set ears	OMIM:615355
Subcorneal Pustular Dermatosis	Erythema, Pustule, Pruritus	ORPHA:48377
Glycosylphosphatidylinositol Biosynthesis Defect 25	Coarse hair, Sparse hair	OMIM:619985
Neutrophilic Dermatosis, Acute Febrile	Cystic acne, Acne inversa, Erythema, Pyoderma gangrenosum	OMIM:608068
Complex Regional Pain Syndrome	Edema of the upper limbs, Erythema, Dry skin	ORPHA:83452
Donohue Syndrome	Severe failure to thrive, Acanthosis nigricans, Large hands, Hyperkeratosis, Recurrent infections...	OMIM:246200
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Abnormal antihelix morphology, Clinodactyly of the 5th finger, Abnormal helix morphology, Synosto...	ORPHA:1005
Giant Axonal Neuropathy 1, Autosomal Recessive	Curly hair	OMIM:256850
Kindler Epidermolysis Bullosa	Recurrent skin infections, Erythema, Aplasia/Hypoplasia of the skin, Cutaneous photosensitivity, ...	ORPHA:2908
Riddle Syndrome	Erythema, Conjunctival telangiectasia, Recurrent sinusitis, Weight loss, Scaling skin, Recurrent ...	ORPHA:420741
Warburg-Cinotti Syndrome	Conductive hearing impairment, Flexion contracture of finger, Hypoplasia of the ear cartilage, Po...	OMIM:618175
Smith-Kingsmore Syndrome	Curly hair	OMIM:616638
Noonan Syndrome 7	Curly hair, Low posterior hairline	OMIM:613706
Inflammatory Skin And Bowel Disease, Neonatal, 2	Recurrent bronchiolitis, Failure to thrive, Recurrent pneumonia, Epidermal acanthosis	OMIM:616069
Ectodermal Dysplasia-Blindness Syndrome	Protruding ear, Hyperkeratosis, Skin ulcer, Hearing impairment, Recurrent respiratory infections	ORPHA:1806
Autoinflammation With Arthritis And Dyskeratosis	Failure to thrive, Epidermal acanthosis, Dry skin, Follicular hyperkeratosis, Palmoplantar hyperk...	OMIM:617388
Amaurosis-Hypertrichosis Syndrome	Coarse hair, Abnormal eyelash morphology, Thick eyebrow, Synophrys	ORPHA:1021
Costello Syndrome	Large earlobe, Lack of skin elasticity, Redundant skin, Acanthosis nigricans, Low-set, posteriorl...	ORPHA:3071
Oral Erosive Lichen	Erythema, Dry skin	ORPHA:31142
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Metaphyseal cupping of metacarpals, Abnormality of the calcaneus, Rhizomelia, Hyperkeratosis, Sho...	ORPHA:163966
Barber-Say Syndrome	Redundant skin, Dry skin, Premature skin wrinkling, Dermal translucency, Dermal atrophy	OMIM:209885
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Dermal translucency, Cafe-au-lait spot, Preauricular pit, Thin skin	OMIM:617506
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Dermal translucency, Thin skin, Bruising susceptibility, Atrophic scars	ORPHA:536467
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Thick eyebrow, Highly arched eyebrow, Curly hair, Low posterior hairline	OMIM:617360
Snakebite Envenomation	Angioedema, Erythema, Ecchymosis, Localized skin lesion	ORPHA:449285
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Bronchiolitis, Recurrent sinopulmonary infections, Erythema	OMIM:614878
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Recurrent candida infections, Perioral erythema, Failure to thrive, Dry skin, Perianal erythema	OMIM:201100
Spinocerebellar Ataxia 34	Epidermal hyperkeratosis, Erythroderma	OMIM:133190
Kanzaki Disease	Dry skin, Telangiectasia of the oral mucosa, Lip telangiectasia, Hyperkeratosis, Angiokeratoma co...	OMIM:609242
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Cutis marmorata, Hyperkeratosis, Recurrent pneumonia, Failure to thrive in infancy, Clubbing	OMIM:301220
Hyperimmunoglobulinemia D With Periodic Fever	Urticaria, Erythema, Papule, Purpura, Acrocyanosis	ORPHA:343
Milroy Disease	Hyperkeratosis, Erysipelas	ORPHA:79452
Immunoglobulin A Vasculitis	Macule, Urticaria, Vascular skin abnormality, Pustule, Bruising susceptibility, Skin rash, Erythe...	ORPHA:761
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma	Death in childhood, Erythema, Neonatal death, Ichthyosis, Death in infancy	OMIM:609313
Toxic Epidermal Necrolysis	Skin ulcer, Macule, Acantholysis, Erythema	ORPHA:537
Trichohepatoneurodevelopmental Syndrome	Hypertrichosis, Woolly hair, Coarse hair, Hypoplastic nipples, Synophrys, Curly hair	OMIM:618268
Poikiloderma With Neutropenia	Skin rash, Plantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, Telangiectasia, Derm...	OMIM:604173
Trichothiodystrophy 1, Photosensitive	Protruding ear, Congenital nonbullous ichthyosiform erythroderma, Small for gestational age, Dry ...	OMIM:601675
Ullrich Congenital Muscular Dystrophy 1	Slender build, Failure to thrive, Protruding ear, Talipes equinovarus, Increased laxity of finger...	OMIM:254090
Huriez Syndrome	Epidermal acanthosis, Tapered finger, Congenital palmoplantar hyperkeratosis	OMIM:181600
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Curly hair	OMIM:300986
Chops Syndrome	Thick eyebrow, Coarse hair, Long eyelashes, Synophrys, Thick hair, Curly hair	OMIM:616368
Noonan Syndrome 4	High anterior hairline, Curly hair, Sparse eyebrow	OMIM:610733
Noonan Syndrome 14	Curly hair, Sparse hair, Sparse eyebrow, Low posterior hairline	OMIM:619745
Incontinentia Pigmenti	Telangiectasia of the skin, Absent hand, Camptodactyly of finger, Erythema, Deviation of finger, ...	ORPHA:464
Congenital Disorder Of Glycosylation, Type Iil	Failure to thrive, Postaxial polydactyly, Dry skin, Hyperkeratosis, Recurrent infections	OMIM:614576
Neonatal Inflammatory Skin And Bowel Disease	Recurrent gastroenteritis, Recurrent bacterial skin infections, Generalized abnormality of skin, ...	ORPHA:294023
Rothmund-Thomson Syndrome Type 2	Metaphyseal sclerosis, Small for gestational age, Plantar hyperkeratosis, Synostosis involving bo...	ORPHA:221016
Ritscher-Schinzel Syndrome 4	Curly hair	OMIM:619435
Trichothiodystrophy 4, Nonphotosensitive	Nail dysplasia, Abnormality of hair texture, Woolly hair, Sparse hair, Brittle hair, Sparse eyela...	OMIM:234050
Chime Syndrome	Aplasia/Hypoplasia of the phalanges of the toes, Erythema, Hyperkeratosis, Ichthyosis, Short foot...	ORPHA:3474
Incontinentia Pigmenti	Pallor, Maculopapular exanthema, Hyperkeratosis, Erythema	OMIM:308300
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Curly hair	ORPHA:457485
Stevens-Johnson Syndrome	Sepsis, Erythema, Acantholysis, Weight loss, Recurrent respiratory infections	ORPHA:36426
Hereditary Mucoepithelial Dysplasia	Hyperkeratosis	ORPHA:1839
Punctate Palmoplantar Keratoderma Type 1	Esophageal neoplasm, Hodgkin lymphoma, Orthokeratosis, Breast carcinoma, Stomach cancer, Prostate...	ORPHA:79501
Fontaine Progeroid Syndrome	Reduced subcutaneous adipose tissue, Prematurely aged appearance, Redundant skin, Neonatal death,...	OMIM:612289
Autosomal Dominant Cerebellar Ataxia	Hyperkeratosis, Erythema	ORPHA:99
Hypohidrotic Ectodermal Dysplasia	Thin skin, Eczema, Hyperkeratosis, Dry skin	ORPHA:238468
Microscopic Polyangiitis	Subcutaneous hemorrhage, Skin rash, Cutis marmorata, Erythema, Subcutaneous nodule, Skin ulcer	ORPHA:727
Drug Reaction With Eosinophilia And Systemic Symptoms	Macule, Pustule, Skin rash, Erythema, Angioedema, Erythroderma	ORPHA:139402
Sialidosis Type 1	Vascular skin abnormality, Hyperkeratosis	ORPHA:812
Autosomal Dominant Cutis Laxa	Prematurely aged appearance, Cutis laxa, Redundant skin, Premature skin wrinkling, Dermal translu...	ORPHA:90348
Tricho-Retino-Dento-Digital Syndrome	Uncombable hair, Sparse hair	ORPHA:1264
Pachyonychia Congenita 3	Palmar hyperkeratosis, Plantar hyperkeratosis, Follicular hyperkeratosis, Palmoplantar keratoderm...	OMIM:615726
Familial Tumoral Calcinosis	Skin rash, Erythema, Periarticular subcutaneous nodules, Subcutaneous nodule, Hypopigmented skin ...	ORPHA:53715
Werner Syndrome	Telangiectasia of the skin, Subcutaneous calcification, Miscarriage, Prematurely aged appearance,...	ORPHA:902
Rheumatic Fever	Pallor, Macule, Erythema, Subcutaneous nodule	ORPHA:3099
Porphyria Cutanea Tarda	Recurrent bacterial skin infections, Poor wound healing, Fragile skin, Cutaneous photosensitivity...	ORPHA:101330
Tyrosinemia Type 2	Palmoplantar keratoderma, Hyperkeratosis	ORPHA:28378
Aicardi-Goutieres Syndrome 1	Petechiae, Erythema, Chilblains, Purpura, Prolonged neonatal jaundice, Acrocyanosis	OMIM:225750
Adult-Onset Still Disease	Skin rash, Erythema, Pruritus	ORPHA:829
Pituitary Adenoma 4, Acth-Secreting	Abdominal obesity, Bruising susceptibility, Poor wound healing, Facial erythema, Purpura, Striae ...	OMIM:219090
Lig4 Syndrome	Telangiectasia of the skin, Cutaneous photosensitivity, Erythema, Clinodactyly of the 5th finger	ORPHA:99812
Oculodentodigital Dysplasia	Sparse hair, Brittle hair, Abnormal fingernail morphology, Fine hair, Slow-growing hair, Abnormal...	ORPHA:2710
Bazex Syndrome	Pili torti, Sparse hair, Coarse hair, Trichorrhexis nodosa, Trichoepithelioma	OMIM:301845
Localized Scleroderma	Skin erosion, Erythema, Localized skin lesion, Erythematous plaque, Cutaneous sclerotic plaque, H...	ORPHA:90289
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Curly hair	ORPHA:85184
Arthrogryposis And Ectodermal Dysplasia	Atypical scarring of skin, Hyperkeratosis, Dry skin, Ectodermal dysplasia	OMIM:601701
Fibromuscular Dysplasia, Multifocal	Dermal translucency, Striae distensae, Atrophic scars	OMIM:619329
Nodular Non-Suppurative Panniculitis	Aplasia/Hypoplasia of the skin, Erythema, Subcutaneous nodule	ORPHA:33577
Cardiofaciocutaneous Syndrome 1	Sparse hair, Absent eyebrow, Absent eyelashes, Slow-growing hair, Curly hair, Low posterior hairline	OMIM:115150
Trichohepatoenteric Syndrome 1	Woolly hair, Sparse hair, Brittle hair, Trichorrhexis nodosa, Fine hair, Curly hair	OMIM:222470
Acrodermatitis Enteropathica	Failure to thrive, Generalized abnormality of skin, Erythema, Dry skin, Skin ulcer, Weight loss	ORPHA:37
Gaucher Disease, Perinatal Lethal	Congenital nonbullous ichthyosiform erythroderma, Petechiae, Neonatal death, Hyperkeratosis, Purp...	OMIM:608013
Trichohepatoenteric Syndrome 2	Woolly hair, Sparse hair, Brittle hair, Trichorrhexis nodosa, Uncombable hair	OMIM:614602
Rothmund-Thomson Syndrome Type 1	Short metacarpal, Metaphyseal sclerosis, Small for gestational age, Plantar hyperkeratosis, Metap...	ORPHA:221008
Cataract, Aberrant Oral Frenula, And Growth Retardation	Curly hair	OMIM:115645
Juvenile Idiopathic Arthritis	Skin rash, Generalized hyperkeratosis, Psoriasiform dermatitis, Thickened skin	ORPHA:92
Epidermodysplasia Verruciformis, Susceptibility To, 4	Facial erythema	OMIM:618307
Premature Aging Syndrome, Penttinen Type	Hyperkeratosis	OMIM:601812
Leukocyte Adhesion Deficiency Type Ii	Skin vesicle	ORPHA:99843
Chronic Graft Versus Host Disease	Morphea, Poor wound healing, Erythema, Intermittent generalized erythematous papular rash, Skin u...	ORPHA:99921
Juvenile Dermatomyositis	Telangiectasia of the skin, Mucosal telangiectasiae, Skin rash, Erythema, Dry skin, Cutaneous pho...	ORPHA:93672
Ifap Syndrome 2	Ichthyosis follicularis, Perioral erythema	OMIM:619016
Rat-Bite Fever	Meningitis, Sepsis, Weight loss, Scaling skin	ORPHA:31205
Pachyonychia Congenita 2	Epidermoid cyst, Subungual hyperkeratosis, Folliculitis, Palmoplantar hyperkeratosis	OMIM:167210
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Woolly hair	OMIM:611528
Kcnq2-Related Epileptic Encephalopathy	Facial erythema, Pallor	ORPHA:439218
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis	Hyperkeratosis, Pustule, Skin rash	OMIM:612852
Odontotrichoungual-Digital-Palmar Syndrome	Nail dysplasia, Abnormality of hair texture, Nail dystrophy	OMIM:601957
Oculocutaneous Albinism Type 1A	Hyperkeratosis, Thickened skin	ORPHA:79431
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Failure to thrive, Urticaria, Ectrodactyly, Abnormality of the hand, Recurrent bacterial infectio...	ORPHA:2273
Parkes Weber Syndrome	Abnormal femoral metaphysis morphology, Prominent superficial blood vessels, Abnormality of the u...	ORPHA:90307
Focal Dermal Hypoplasia	Telangiectasia of the skin, Coarse metaphyseal trabecularization, Abnormal palmar dermatoglyphics...	ORPHA:2092
Wiedemann-Rautenstrauch Syndrome	Reduced subcutaneous adipose tissue, Progeroid facial appearance, Prominent scalp veins, Recurren...	ORPHA:3455
Epidermodysplasia Verruciformis, Susceptibility To, 3	Palmar pits, Epidermal acanthosis	OMIM:618267
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Generalized hirsutism, Hypopigmentation of hair, Fine hair	ORPHA:2221
Bloom Syndrome	Protruding ear, Clinodactyly of the 5th finger, Facial telangiectasia in butterfly midface distri...	OMIM:210900
Cardiofaciocutaneous Syndrome	Abnormal morphology of ulna, Excessive wrinkled skin, Redundant skin, Deep palmar crease, Low-set...	ORPHA:1340
Kikuchi-Fujimoto Disease	Macule, Skin erosion, Vasculitis in the skin, Pustule, Skin rash, Erythematous macule, Erythema, ...	ORPHA:50918
Fucosidosis	Generalized hyperkeratosis, Vascular skin abnormality, Acrocyanosis	ORPHA:349
Sunct Syndrome	Facial erythema, Flushing	ORPHA:57145
Restrictive Dermopathy 1	Prominent superficial blood vessels, Epidermal hyperkeratosis, Scaling skin, Rocker bottom foot, ...	OMIM:275210
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Recurrent bacterial skin infections, Sparse eyebrow, Sparse eyelashes, Trichiasis, Absent pubic h...	OMIM:148210
Proteasome-Associated Autoinflammatory Syndrome 1	Failure to thrive, Flexion contracture of finger, Progeroid facial appearance, Recurrent upper re...	OMIM:256040
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Failure to thrive, Abnormal pinna morphology, Microtia, Short femur, Femoral bowing, Short humeru...	OMIM:210710
Bone Marrow Failure Syndrome 3	Failure to thrive, Metaphyseal dysplasia, Cupped ear, Hyperkeratosis, Recurrent infections, Heari...	OMIM:617052
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Sparse scalp hair, Sparse hair, Loose anagen hair, Long eyelashes, Curly hair	OMIM:607721
Growth Hormone Insensitivity Syndrome	Abnormality of the nail, Fine hair	ORPHA:181393
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Death in childhood, Erythema, Skin rash	OMIM:618321
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Low-set ears, Erythema, Hand clenching, Talipes equinovarus	OMIM:614653
Tempi Syndrome	Facial erythema, Telangiectasia	ORPHA:284227
Craniofrontonasal Dysplasia	Abnormality of hair texture, Woolly hair, Ridged fingernail, Widow's peak, Low posterior hairline	ORPHA:1520
Trichothiodystrophy 8, Nonphotosensitive	Woolly hair, Sparse hair, Sparse eyebrow, Trichorrhexis nodosa

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