Gene: Dsc1 MGI:109173

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

desmocollin 1

Synonyms:

Dsc1b, Dsc1a

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 Dsc1 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 Dsc1 (0 diseases)
Human diseases predicted to be associated with Dsc1 (1234 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Dsc1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hypotrichosis Simplex Of The Scalp	Allergic rhinitis, Atopic dermatitis, Sparse scalp hair, Fine hair, Alopecia of scalp, Parakerato...	ORPHA:90368
Bathing Suit Ichthyosis	Thickened skin, Alopecia, Nail dystrophy, Ichthyosis, Parakeratosis, Palmoplantar hyperkeratosis,...	ORPHA:100976
Ichthyosis, Congenital, Autosomal Recessive 1	Alopecia, Congenital ichthyosiform erythroderma, Nail dystrophy, Ichthyosis, Nail dysplasia, Para...	OMIM:242300
Ichthyosis With Erythrokeratoderma	Erythema, Palmoplantar keratoderma, Congenital ichthyosiform erythroderma, Leukonychia, Diffuse p...	OMIM:620507
Keratoderma Hereditarium Mutilans With Ichthyosis	Alopecia, Orthokeratosis, Palmoplantar keratoderma, Honeycomb palmoplantar hyperkeratosis, Hyperg...	ORPHA:79395
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Failure to thrive, Palmoplantar scaling skin,...	OMIM:605676
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Posterior blepharitis, Palmoplantar keratoderma, Alopecia totalis, Para...	OMIM:300918
Graham Little-Piccardi-Lassueur Syndrome	Alopecia, Sparse pubic hair, Sparse scalp hair, Sparse axillary hair, Pruritus, Perifollicular hy...	ORPHA:505
Olmsted Syndrome 1	Alopecia universalis, Subungual hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis, Hyperpa...	OMIM:614594
Erythrokeratodermia Variabilis Et Progressiva 5	Abnormal hair morphology, Palmoplantar hyperkeratosis, Hyperkeratosis, Onychogryposis	OMIM:617756
Erythrokeratodermia Variabilis Et Progressiva 6	Abnormal hair morphology, Parakeratosis, Pruritus, Superficial dermal perivascular inflammatory i...	OMIM:618531
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Dry skin, Leukonychia, Angular cheilitis, Onycholysis, Epidermal acanthosis, Follicular hyperkera...	OMIM:616295
Ichthyosis, Hystrix-Like, With Deafness	Sparse eyebrow, Palmoplantar keratoderma, Cobblestone-like hyperkeratosis, Ichthyosis, Sparse eye...	OMIM:602540
Autosomal Dominant Epidermolytic Ichthyosis	Palmoplantar keratoderma, Skin ulcer, Ichthyosis, Conjunctival hamartoma, Weight loss, Erythroder...	ORPHA:312
Olmsted Syndrome 2	Alopecia universalis, Cheilitis, Palmoplantar keratoderma, Perioral hyperkeratosis, Woolly hair, ...	OMIM:619208
Ichthyosis, Congenital, Autosomal Recessive 6	Orthokeratosis, Palmoplantar keratoderma, Dry skin, Parakeratosis, Generalized ichthyosis, Erythr...	OMIM:612281
Pruritic Urticarial Papules And Plaques Of Pregnancy	Pruritus on foot, Eczematoid dermatitis, Pruritis on breast, Striae distensae, Increased body wei...	ORPHA:64745
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Orthokeratosis, Palmoplantar keratoderma, Failure to thrive, Hypergranulosis, Psoriasiform dermat...	OMIM:615508
Bazex Syndrome	Yellow nails, Palmoplantar keratoderma, Nail dystrophy, Parakeratosis, Acanthosis nigricans, Scal...	ORPHA:166113
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Sparse body hair, Abnormal fingernail morphol...	ORPHA:2722
Acrokeratosis Verruciformis	Ridged nail, Acrokeratosis, Epidermal acanthosis, Punctate palmoplantar hyperkeratosis, Acantholy...	OMIM:101900
Superficial Epidermolytic Ichthyosis	Erythema, Palmoplantar keratoderma, Ichthyosis, Acantholysis, Edema, Thin skin	ORPHA:455
Netherton Syndrome	Allergic rhinitis, Brittle scalp hair, Sparse eyebrow, Failure to thrive, Eczematoid dermatitis, ...	OMIM:256500
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Erythema, Palmoplantar keratoderma, Leukonychia, Nail dystrophy, Ichthyosis, Parakeratosis, Pruri...	OMIM:615821
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma	Honeycomb palmoplantar hyperkeratosis, Nail dystrophy, Ichthyosis, Linear arrays of macular hyper...	OMIM:601952
Insulin-Resistance Syndrome Type A	Generalized hirsutism, Hyperkeratosis	ORPHA:2297
Porokeratosis Plantaris Palmaris Et Disseminata	Hyperkeratotic papule, Pruritus, Palmoplantar hyperkeratosis, Porokeratosis	ORPHA:737
Palmoplantar Keratoderma, Norrbotten Recessive Type	Recurrent cutaneous fungal infections, Palmoplantar keratoderma, Hyperkeratosis	OMIM:244850
Woolly Hair-Skin Fragility Syndrome	Acantholysis, Woolly hair, Palmoplantar keratoderma	OMIM:620415
Pemphigus Foliaceus	Erythema, Psoriasiform dermatitis, Crusting erythematous dermatitis, Skin vesicle, Pustule, Eryth...	ORPHA:79481
Congenital Ichthyosiform Erythroderma	Alopecia, Palmoplantar keratoderma, Keratitis, Failure to thrive, Ichthyosis, Erythroderma, Ectro...	ORPHA:79394
Ulerythema Ophryogenesis	Hyperkeratotic papule, Sparse lateral eyebrow, Dry skin, Facial erythema, Follicular hyperkeratos...	ORPHA:3406
Ichthyosis, Annular Epidermolytic, 1	Erythema, Orthokeratosis, Hyperparakeratosis, Abnormal hair morphology, Ichthyosis, Palmoplantar ...	OMIM:607602
Ichthyosis With Confetti	Hypertrichosis, Ichthyosis, Decreased body weight, Hypoplastic nipples, Palmoplantar hyperkeratos...	OMIM:609165
Erythrokeratodermia Variabilis	Cataract, Alopecia, Erythema, Abnormal hair morphology, Dry skin, Patchy palmoplantar hyperkerato...	ORPHA:317
Palmoplantar Keratoderma And Congenital Alopecia 2	Alopecia totalis, Dry skin, Nail dystrophy, Nail dysplasia, Facial erythema, Palmoplantar hyperke...	OMIM:212360
Anonychia With Flexural Pigmentation	Abnormal hair morphology, Alopecia of scalp, Follicular hyperkeratosis, Anonychia, Hyperkeratosis	ORPHA:69125
Vulvovaginal Gingival Syndrome	Erythema, Ridged nail, Parakeratosis, Epidermal acanthosis, Pruritus	ORPHA:83453
Psoriasis 2	Psoriasiform dermatitis, Parakeratosis, Scaling skin, Epidermal acanthosis, Hyperkeratosis	OMIM:602723
Vohwinkel Syndrome, Variant Form	Orthokeratosis, Honeycomb palmoplantar hyperkeratosis, Hypergranulosis, Abnormal hair morphology,...	OMIM:604117
Ichthyosis, Lamellar, Autosomal Dominant	Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:146750
Classic Mycosis Fungoides	Erythema, Alopecia, Skin ulcer, Eczematoid dermatitis, Dry skin, Skin rash, Abnormal eyelid morph...	ORPHA:2584
Ichthyosis Hystrix Of Curth-Macklin	Nail dystrophy, Ichthyosis, Diffuse palmoplantar hyperkeratosis, Recurrent skin infections, Hyper...	ORPHA:79503
Keratosis, Focal Palmoplantar And Gingival	Gingival hyperkeratosis, Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkerat...	OMIM:148730
Lamellar Ichthyosis	Dry skin, Ichthyosis, Lack of skin elasticity, Erythroderma, Aplasia/Hypoplasia of the eyebrow, E...	ORPHA:313
Pemphigus Vulgaris	Acantholysis, Weight loss, Alopecia of scalp, Recurrent cutaneous abscess formation	ORPHA:704
Keratosis Palmoplantaris Striata Ii	Abnormal hair morphology, Epidermal acanthosis, Palmoplantar keratoderma, Abnormality of the nail	OMIM:612908
Hidrotic Ectodermal Dysplasia	Thickened skin, Small nail, Sparse eyelashes, Absent eyebrow, Absent axillary hair, Sparse hair, ...	ORPHA:189
Porokeratosis Of Mibelli	Pruritus, Hyperkeratosis, Porokeratosis	ORPHA:735
Ichthyosis, Congenital, Autosomal Recessive 5	Orthokeratosis, Palmoplantar keratoderma, White scaling skin, Parakeratosis, Erythroderma, Epider...	OMIM:604777
Acute Generalized Exanthematous Pustulosis	Facial edema, Pruritus, Predominantly dermal neutrophilic infiltrate, Pustule, Skin vesicle, Eosi...	ORPHA:293173
Ichthyosis, Congenital, Autosomal Recessive 13	Ichthyosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Hypergranulosis	OMIM:617574
Iga Pemphigus	Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Skin vesicle, Eosinophilia, Ac...	ORPHA:555905
Peeling Skin Syndrome 6	Atopic dermatitis, Orthokeratosis, Dry skin, Parakeratosis, Scaling skin, Pruritus	OMIM:618084
Familial Reactive Perforating Collagenosis	Hyperkeratotic papule, Abnormal epidermal morphology, Inflammatory abnormality of the skin, Crust...	ORPHA:79147
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Dystrophic toenail, Failure to thrive, Abnormal fingernail morphology, Ridged nail, Absent toenai...	ORPHA:89838
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Alopecia, Sparse eyebrow, Orthokeratosis, Dry skin, Ichthyosis, Sclerosing cholangitis, Sparse ey...	OMIM:607626
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1	Follicular hyperkeratosis, Perioral hyperkeratosis, Palmoplantar keratoderma, Congenital bullous ...	OMIM:613000
Psoriasis 14, Pustular	Erythema, Psoriasiform dermatitis, Nail dystrophy, Pustule, Parakeratosis, Oligoarthritis, Cholan...	OMIM:614204
Infantile Digital Fibromatosis	Parakeratosis, Epidermal acanthosis, Hyperkeratosis	ORPHA:199267
Parana Hard Skin Syndrome	Generalized hirsutism, Thickened skin, Hyperkeratosis	ORPHA:2812
Verrucous Hemangioma	Hyperkeratotic papule, Epidermal acanthosis, Inflammatory abnormality of the skin	ORPHA:464318
Epidermolysis Bullosa Simplex 1C, Localized	Hyperkeratosis	OMIM:131800
Palmoplantar Keratoderma, Nagashima Type	Orthokeratotic hyperkeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis, Hypergranulosis	OMIM:615598
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Predominantly dermal neutrophilic infiltrate, Psoriasiform lesion, Superficial dermal perivascula...	ORPHA:284426
Familial Benign Chronic Pemphigus	Erythema, Acantholysis, Hyperkeratosis, Skin vesicle	ORPHA:2841
Aquagenic Palmoplantar Keratoderma	Atopic dermatitis, Palmoplantar keratoderma, Edema, Orthokeratotic hyperkeratosis, Excessive skin...	ORPHA:498359
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Parakeratosi...	OMIM:173200
Ichthyosis Prematurity Syndrome	Allergic rhinitis, Alopecia of scalp, Follicular hyperkeratosis, Generalized ichthyosis, Erythrod...	OMIM:608649
Naxos Disease	Subungual hyperkeratosis, Sparse eyebrow, Palmoplantar keratoderma, Sparse body hair, Nail dystro...	OMIM:601214
Epidermolysis Bullosa, Lethal Acantholytic	Alopecia universalis, Alopecia totalis, Anonychia, Acantholysis, Absent fingernail	OMIM:609638
Hypotrichosis 6	Erythema, Sparse eyebrow, Sparse eyelashes, Pili torti, Follicular hyperkeratosis, Brittle hair, ...	OMIM:607903
Ichthyosis, Congenital, Autosomal Recessive 10	Palmoplantar keratoderma, Hypergranulosis, Orthokeratotic hyperkeratosis, Erythroderma, Generaliz...	OMIM:615024
Lethal Acantholytic Erosive Disorder	Congenital alopecia totalis, Absent hair, Oligohydramnios, Absent toenail, Absent eyelashes, Abse...	ORPHA:158687
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant	Palmoplantar keratoderma, Generalized hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplant...	OMIM:620150
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Parakeratosis, Pruritus, Skin vesicle, Erythema migrans	ORPHA:158681
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Sparse eyebrow, Congenital alopecia totalis, Generalized hyperkeratosis, Dry skin, Alopecia of sc...	ORPHA:2269
Porokeratosis 3, Multiple Types	Parakeratosis, Nail dystrophy, Porokeratosis	OMIM:175900
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Plantar hyperkeratosis, Alopecia, Pruritus, Nail dystrophy	OMIM:616487
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Epidermal acanthosis, Hyperkeratosis	OMIM:615028
Rothmund-Thomson Syndrome, Type 1	Recurrent otitis media, Nail dystrophy, Juvenile cataract, Absent eyelashes, Absent eyebrow, Thin...	OMIM:618625
Pityriasis Rubra Pilaris	Thickened skin, Subungual hyperkeratosis, Palmoplantar keratoderma, Eczematoid dermatitis, Ichthy...	ORPHA:2897
White Sponge Nevus 2	Epidermal acanthosis, Edema, Hyperparakeratosis	OMIM:615785
Pili Torti-Onychodysplasia Syndrome	Alopecia universalis, Alopecia, Palmoplantar keratoderma, Eczematoid dermatitis, Sparse body hair...	ORPHA:2890
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Sparse eyebrow, Blepharitis, Keratitis, Palmoplantar keratoderma, Folliculitis, Dry skin, Nail dy...	OMIM:308800
Schopf-Schulz-Passarge Syndrome	Palmoplantar keratoderma, Small nail, Poroma, Sparse body hair, Apocrine hidrocystoma, Dry skin, ...	OMIM:224750
Ichthyosis, Congenital, Autosomal Recessive 11	Sparse eyebrow, Blepharitis, Congenital ichthyosiform erythroderma, Sparse body hair, Curly eyela...	OMIM:602400
Palmoplantar Carcinoma, Multiple Self-Healing	Palmoplantar keratoderma, Limbal stem cell deficiency, Corneal neovascularization, Nail dystrophy...	OMIM:615225
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema	ORPHA:86923
Epidermolysis Bullosa Dystrophica, Pretibial	Pruritus, Hyperkeratosis, Nail dystrophy	OMIM:131850
Palmoplantar Keratoderma, Punctate Type Iii	Acrokeratosis, Hyperkeratosis	OMIM:101850
Darier-White Disease	Ridged nail, Subungual hyperkeratotic fragments, Acrokeratosis, Acantholysis, Pruritus	OMIM:124200
Dermatoleukodystrophy	Thickened skin, Hyperkeratosis	ORPHA:1659
Congenital Panfollicular Nevus	Hyperkeratosis	ORPHA:139414
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails, Alopecia of scalp, Di...	OMIM:617294
Lichen Planopilaris	Alopecia, Skin ulcer, Hepatitis, Abnormal fingernail morphology, Pterygium, Onycholysis, Pruritus...	ORPHA:525
Palmoplantar Keratoderma-Deafness Syndrome	Palmoplantar keratoderma, Hyperkeratosis	ORPHA:2202
Erythrokeratodermia Variabilis Et Progressiva 4	Erythema, Palmoplantar hyperkeratosis, Epidermal acanthosis, Hyperkeratosis, Congenital nonbullou...	OMIM:617526
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Leukonychia, Nail dysplasia, Palmoplantar ery...	OMIM:104100
Reticulate Acropigmentation Of Kitamura	Hyperkeratosis	OMIM:615537
Ichthyosis, Congenital, Autosomal Recessive 14	Erythema, Orthokeratotic hyperkeratosis, Scaling skin, Pruritus, Hyperkeratosis, Congenital nonbu...	OMIM:617571
Trichothiodystrophy 1, Photosensitive	Cataract, Microcornea, Small for gestational age, Small nail, Fine hair, Trichorrhexis nodosa, Dr...	OMIM:601675
Acquired Ichthyosis	Erythema, Palmoplantar keratoderma, Dry skin, Ichthyosis, Pruritus, Recurrent skin infections, Hy...	ORPHA:454
Monilethrix	Cataract, Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Follicular hyperkeratosis, Slo...	ORPHA:573
Moynahan Syndrome	Cachexia, Alopecia, Sparse hair, Hyperkeratosis	ORPHA:2574
Erythrokeratodermia Variabilis Et Progressiva 1	Hypergranulosis, Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Erythroderma, Ep...	OMIM:133200
Ichthyosis Hystrix, Lambert Type	Orthokeratotic hyperkeratosis, Hyperkeratosis	OMIM:146600
Dowling-Degos Disease 2	Hyperkeratotic papule, Follicular hyperkeratosis	OMIM:615327
Hyperkeratosis-Hyperpigmentation Syndrome	Hyperkeratosis	ORPHA:1336
Epidermolytic Hyperkeratosis 1	Palmoplantar hyperkeratosis, Erythroderma, Scaling skin, Epidermal acanthosis, Congenital bullous...	OMIM:113800
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Cataract, Alopecia, Sparse eyebrow, Keratitis, Palmoplantar keratoderma, Folliculitis, Nail dystr...	OMIM:612843
Congenital Disorder Of Glycosylation, Type Iq	Cataract, Failure to thrive, Eczematoid dermatitis, Hypertrichosis, Dry skin, Ichthyosis, Cutis l...	OMIM:612379
Sézary Syndrome	Alopecia, Palmoplantar keratoderma, Dry skin, Nail dystrophy, Erythroderma, Ectropion, Pruritus, ...	ORPHA:3162
Lipoid Proteinosis Of Urbach And Wiethe	Reduced epidermal extracellular matrix protein 1 protein expression, Thickened skin, Patchy alope...	OMIM:247100
Angioma Serpiginosum, X-Linked	Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair	OMIM:300652
Pemphigus Erythematosus	Acantholysis, Malar rash	ORPHA:79480
Erythrokeratoderma ''En Cocardes''	Hyperkeratosis	ORPHA:315
Porokeratosis 7, Multiple Types	Parakeratosis, Porokeratosis	OMIM:614714
Porokeratosis 1, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175800
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Nail dystrophy, Palmar hyperkeratosis, Plantar hyperkeratosis, Pruritus, Hyperkeratosis	ORPHA:79399
Ichthyosis, Congenital, Autosomal Recessive 9	Orthokeratosis, Hypergranulosis, Erythroderma, Ectropion, Epidermal acanthosis, Hyperkeratosis, C...	OMIM:615023
Warty Dyskeratoma	Abnormal fingernail morphology, Acantholysis, Epidermal thickening, Acrokeratosis	ORPHA:69745
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	OMIM:144150
Chromomycosis	Hyperkeratotic papule, Predominantly lower limb lymphedema, Keratitis, Hyperparakeratosis, Lymphe...	ORPHA:182
Angioma Serpiginosum, Autosomal Dominant	Hyperkeratosis	OMIM:106050
Papillomatosis, Confluent And Reticulated	Hyperkeratosis	OMIM:167900
Chilblain Lupus	Discoid lupus rash, Inflammatory abnormality of the skin, Skin ulcer, Malar rash, Skin rash, Prur...	ORPHA:90280
Harlequin Ichthyosis	Cataract, Congenital ichthyosiform erythroderma, Ichthyosis, Erythroderma, Ectropion, Hyperkerato...	ORPHA:457
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Parakeratosis, Hyperkeratosis	OMIM:618339
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Xerostomia, Dry skin, Ichthyosis, Parakeratosis, Acanthosis nigricans, Epidermal acanthosis, Hype...	OMIM:618527
Ichthyosis, Congenital, Autosomal Recessive 7	Palmoplantar keratoderma, Hypergranulosis, Ichthyosis, Erythroderma, Epidermal acanthosis	OMIM:615022
Intellectual Developmental Disorder, Fra12A Type	Hyperkeratosis, Erythroderma	OMIM:136630
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Microcornea, Skin ulcer, Fine hair, Abnormal fingernail morphology, Keratoconjunctiviti...	ORPHA:1806
Toxic Epidermal Necrolysis	Erythema, Skin ulcer, Weight loss, Entropion, Pancreatitis, Conjunctivitis, Acantholysis, Corneal...	ORPHA:537
Ichthyosis, Congenital, Autosomal Recessive 2	Erythema, Alopecia, Palmoplantar keratoderma, Small nail, Congenital ichthyosiform erythroderma, ...	OMIM:242100
Atrophoderma Vermiculata	Hyperkeratotic papule, Abnormal epidermal morphology, Erythema, Follicular hyperkeratosis, Pruritus	ORPHA:79100
Diffuse Palmoplantar Keratoderma, Bothnian Type	Diffuse palmoplantar hyperkeratosis, Erythema, Pruritus, Skin ulcer	ORPHA:2337
Flynn-Aird Syndrome	Cataract, Alopecia, Alopecia of scalp, Hyperkeratosis	OMIM:136300
Mal De Meleda	Erythema, Inflammatory abnormality of the skin, Palmoplantar keratoderma, Ichthyosis, Superficial...	ORPHA:87503
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Keratoconus, Alopecia, Palmoplantar keratoderma, Failure to thrive, Ichthyosis, Erythroderma, Con...	OMIM:242150
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Hyperkeratotic papule, Alopecia, Nail dystrophy, Nail dysplasia, Palmar hyperkeratosis, Plantar h...	ORPHA:79397
Clouston Syndrome	Cataract, Alopecia, Sparse eyebrow, Small nail, Fine hair, Alopecia totalis, Brittle hair, Nail d...	OMIM:129500
Noonan Syndrome 8	Webbed neck, Failure to thrive, Eczematoid dermatitis, Downslanted palpebral fissures, Large for ...	OMIM:615355
Hypotrichosis And Recurrent Skin Vesicles	Sparse eyebrow, Sparse body hair, Leukonychia, Sparse eyelashes, Sparse axillary hair, Skin vesic...	OMIM:613102
Stevens-Johnson Syndrome	Erythema, Weight loss, Entropion, Pancreatitis, Conjunctivitis, Acantholysis, Corneal erosion	ORPHA:36426
Lichen Planus Pemphigoides	Abnormality of the nail, Skin vesicle, Conjunctivitis, Pruritus, Hyperkeratosis, Blepharitis	ORPHA:254478
Epidermolytic Palmoplantar Keratoderma	Hypergranulosis, Abnormal fingernail morphology, Diffuse palmoplantar hyperkeratosis, Palmoplanta...	ORPHA:2199
Alopecia Universalis Congenita	Alopecia universalis, Absent eyelashes, Absent eyebrow, Absent pubic hair, Absent axillary hair	OMIM:203655
Elastosis Perforans Serpiginosa	Crusting erythematous dermatitis, Hyperkeratotic papule, Epidermal acanthosis, Cutis laxa	ORPHA:79148
Hypotrichosis Simplex	Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse hair, Sparse scalp hair	ORPHA:55654
Trichothiodystrophy 7, Nonphotosensitive	Tiger tail banding, Ichthyosis, Follicular hyperkeratosis, Brittle hair, Congenital nonbullous ic...	OMIM:618546
Recessive X-Linked Ichthyosis	Dry skin, Opacification of the corneal stroma, Hyperkeratosis, Ichthyosis	ORPHA:461
Monilethrix	Alopecia, Nail dystrophy, Nail dysplasia, Brittle hair, Abnormality of hair texture, Sparse hair,...	OMIM:158000
Netherton Syndrome	Sparse eyebrow, Eczematoid dermatitis, Fine hair, Dehydration, Abnormal hair morphology, Trichorr...	ORPHA:634
Congenital Disorder Of Glycosylation, Type If	Failure to thrive, Dry skin, Renal cortical cysts, Erythroderma, Scaling skin, Hyperkeratosis	OMIM:609180
Hypotrichosis 4	Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair	OMIM:146550
Hypohidrotic Ectodermal Dysplasia	Generalized hypopigmentation of hair, Xerostomia, Failure to thrive, Eczematoid dermatitis, Breas...	ORPHA:238468
Kerion Celsi	Alopecia, Inflammatory abnormality of the skin, Recurrent skin infections, Recurrent cutaneous ab...	ORPHA:499
Tylosis With Esophageal Cancer	Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis	OMIM:148500
Keratoderma Hereditarium Mutilans	Alopecia, Honeycomb palmoplantar hyperkeratosis, Ichthyosis, Abnormal toenail morphology, Hyperke...	ORPHA:494
Peeling Skin Syndrome 4	Orthokeratosis, Palmoplantar keratoderma, Nail dystrophy, Ichthyosis, Scaling skin, Epidermal aca...	OMIM:607936
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans, Pruritus, Skin ulcer	ORPHA:409
Hypotrichosis 11	Alopecia universalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Absent axill...	OMIM:615059
Peeling Skin Syndrome 5	Epidermal acanthosis, Hyperkeratosis, Scaling skin	OMIM:617115
Cole Disease	Hyperkeratotic papule, Palmoplantar keratoderma, Orthokeratosis, Hypergranulosis, Abnormal hair m...	OMIM:615522
X-Linked Dominant Chondrodysplasia Punctata	Cataract, Sparse eyebrow, Coarse hair, Microcornea, Downslanted palpebral fissures, Ichthyosis, S...	ORPHA:35173
Neonatal Lupus Erythematosus	Malar rash, Skin rash, Parakeratosis, Maculopapular exanthema, Hyperkeratosis	ORPHA:398124
Leopard Syndrome 3	Webbed neck, Palpebral thickening, Downslanted palpebral fissures, Dry skin, Low posterior hairli...	OMIM:613707
Congenital Disorder Of Glycosylation, Type Im	Alopecia, Sparse eyebrow, Inflammatory abnormality of the skin, Failure to thrive, Dry skin, Icht...	OMIM:610768
Dystrophic Epidermolysis Bullosa Pruriginosa	Pruritus, Hyperkeratosis, Nail dystrophy, Abnormal toenail morphology	ORPHA:89843
Ectodermal Dysplasia-Syndactyly Syndrome 1	Alopecia, Coarse hair, Small nail, Hypoplastic toenails, Sparse eyelashes, Patchy alopecia, Pili ...	OMIM:613573
Ectodermal Dysplasia 4, Hair/Nail Type	Abnormal sweat gland morphology, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dys...	OMIM:602032
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Acne inversa, Chronic furunculosis, Perifolliculitis, Follicular hyperkeratosis, Recurrent cutane...	OMIM:613736
Hidrotic Ectodermal Dysplasia, Halal Type	Supernumerary nipple, Abnormal fingernail morphology, Sparse body hair, Abnormal toenail morpholo...	ORPHA:1809
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Perifolliculitis, Alopecia, Alopecia of scalp	OMIM:260910
Erythrokeratodermia Variabilis Et Progressiva 3	Erythema, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Leukonychia, Epidermal acant...	OMIM:617525
Acrokeratosis Verruciformis Of Hopf	Hypergranulosis, Leukonychia, Nail dystrophy, Anonychia, Punctate palmoplantar hyperkeratosis, Ep...	ORPHA:79151
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Yellow nails, Palmoplantar keratoderma, Hypergranulosis, Nail dystrophy, Orthokeratotic hyperkera...	OMIM:148700
Omenn Syndrome	Pneumonia, Thickened skin, Alopecia, Failure to thrive, Edema, Dry skin, Eosinophilia, Erythroder...	ORPHA:39041
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Onychogryposis of fingernail, Alopecia, Ridged fingernail, Palmoplantar keratoderma, Fingernail d...	ORPHA:2251
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Follicular hyperkeratosis, Microcornea, Comedonal acne, Iris coloboma	OMIM:615147
Sjögren-Larsson Syndrome	Erythema, Dry skin, Ichthyosis, Inflammatory abnormality of the eye, Hyperkeratosis, Corneal erosion	ORPHA:816
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Symblepharon, Trichiasis, Pneumonia, Inflammatory abnormality of the skin, Keratitis, Skin ulcer,...	ORPHA:95455
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Palmoplantar keratoderma, Eczematoid dermatitis, Sparse body hair, Dry skin, Sparse eyelashes, Sl...	OMIM:618535
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Wide nasal bridge, Alopecia, Lymphedema, Palpebral edema, Sparse eyelashes, Absent eyelashes, Epi...	OMIM:137940
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Cataract, Palmoplantar keratoderma, Alopecia totalis, Nail dystrophy, Lack of skin elasticity	ORPHA:1366
Krt1-Related Diffuse Nonepidermolytic Keratoderma	Erythema, Atopic dermatitis, Dry skin, Palmoplantar scaling skin, Diffuse palmoplantar hyperkerat...	ORPHA:530838
Ramon Syndrome	Generalized hirsutism, Abnormal anterior chamber morphology, Hyperkeratosis, Failure to thrive	ORPHA:3019
Ichthyosis Hystrix, Curth-Macklin Type	Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin	OMIM:146590
Proteus Syndrome	Downslanted palpebral fissures, Ptosis, Hyperkeratosis, Epidermal acanthosis, Limbal dermoid	OMIM:176920
Darier Disease	Thickened skin, Palmoplantar keratoderma, Abnormal hair morphology, Subungual hyperkeratotic frag...	ORPHA:218
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Trichiasis, Sparse eyebrow, Keratitis, Corneal scarring, Nail dystrophy, Ichthyosis, Sparse eyela...	OMIM:148210
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Subungual hyperkeratosis, Orthokeratosis, Sparse lateral eyebrow, Eczematoid dermatitis, Acne inv...	OMIM:617337
Candidiasis, Familial, 1	Alopecia, Chronic mucocutaneous candidiasis	OMIM:114580
Prolidase Deficiency	Erythema, Palmoplantar keratoderma, Skin ulcer, Abnormal fingernail morphology, Dry skin, White f...	ORPHA:742
Alopecia Areata 1	Alopecia universalis, Alopecia totalis, Patchy alopecia, Trachyonychia, Nail pits	OMIM:104000
Dowling-Degos Disease 4	Epidermal acanthosis, Pruritus, Hypergranulosis	OMIM:615696
Alopecia Areata 2	Alopecia universalis, Patchy alopecia, Alopecia of scalp, Alopecia totalis	OMIM:610753
Kid Syndrome	Trichilemmoma, Posterior blepharitis, Aplastic/hypoplastic lacrimal glands, Psoriasiform dermatit...	ORPHA:477
Linear Verrucous Nevus Syndrome	Cataract, Abnormal cornea morphology, Aplasia/Hypoplasia of the fovea, Hyperkeratosis, Iris colob...	ORPHA:2611
Hereditary Mucoepithelial Dysplasia	Cataract, Alopecia, Fine hair, Sparse hair, Hyperkeratosis, Corneal dystrophy	ORPHA:1839
Hypotrichosis With Juvenile Macular Degeneration	Fine hair, Pili torti, Brittle hair, Hyperkeratosis, Sparse scalp hair	ORPHA:1573
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Alopecia universalis, Periodontitis, Sparse body hair, Abnormal eyelash morphology, Sparse scalp ...	ORPHA:1008
Ichthyosis, Congenital, Autosomal Recessive 8	Erythema, Orthokeratosis, Hypergranulosis, Ichthyosis, Epidermal acanthosis, Hyperkeratosis	OMIM:613943
Schöpf-Schulz-Passarge Syndrome	Alopecia, Sparse hair, Palmoplantar keratoderma, Aplasia/Hypoplasia of the eyebrow	ORPHA:50944
Ectodermal Dysplasia-Syndactyly Syndrome 2	Follicular hyperkeratosis, Sparse hair, Palmoplantar keratoderma, Congenital bullous ichthyosifor...	OMIM:613576
Parc Syndrome	Absent eyelashes, Alopecia, Absent eyebrow	OMIM:600331
Seborrhea-Like Dermatitis With Psoriasiform Elements	Epidermal acanthosis, Seborrheic dermatitis, Hyperkeratosis	OMIM:610227
Pachyonychia Congenita	Onychogryposis of fingernail, Alopecia, Palmoplantar keratoderma, Failure to thrive, Onychogrypos...	ORPHA:2309
Idiopathic Trachyonychia	Atopic dermatitis, Toenail dysplasia, Fingernail dysplasia, Ridged nail, Nail dystrophy, Ichthyos...	ORPHA:79153
Peeling Skin Syndrome 1	Nail dystrophy, Onycholysis, Eosinophilia, Erythroderma, Scaling skin, Brittle hair, Pruritus	OMIM:270300
Oliver-Mcfarlane Syndrome	Alopecia, Central heterochromia, Long eyelashes, Long eyebrows, Sparse hair, Small for gestationa...	OMIM:275400
Costello Syndrome	Keratoconus, Abnormal hair morphology, Abnormal fingernail morphology, Failure to thrive in infan...	ORPHA:3071
Trichodysplasia-Xeroderma Syndrome	Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Dry skin, Trichody...	ORPHA:3361
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Alopecia, Aplasia/Hypoplasia of the iris, Ptosis, Corneal opacity, Hypopigmentation of ...	ORPHA:1067
Poikiloderma With Neutropenia	Sparse eyebrow, Recurrent pneumonia, Palmoplantar keratoderma, Sparse lateral eyebrow, Recurrent ...	OMIM:604173
Ichthyosis, Congenital, Autosomal Recessive 3	Erythema, Palmoplantar keratoderma, Ichthyosis, Ectropion, Hyperkeratosis, Congenital nonbullous ...	OMIM:606545
Focal Palmoplantar And Gingival Keratoderma	Subungual hyperkeratosis, Palmoplantar keratoderma, Abnormal fingernail morphology, Focal frictio...	ORPHA:2200
Odontoonychodermal Dysplasia	Erythema, Dry hair, Sparse body hair, Dry skin, Follicular hyperkeratosis, Thin nail, Epidermal a...	OMIM:257980
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia, Microcornea, Large for gestational age, Corneal opacity	ORPHA:2432
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Wide nasal bridge, Coarse hair, Failure to thrive, Eczematoid dermatitis, Downslanted palpebral f...	ORPHA:83617
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Erythema, Alopecia, Orthokeratosis, Small nail, Congenital ichthyosiform erythroderma, Parakerato...	OMIM:308050
Congenital Lethal Erythroderma	Congenital exfoliative erythroderma, Dry skin, Ichthyosis, Failure to thrive	ORPHA:1954
Incontinentia Pigmenti	Erythema, Supernumerary nipple, Hypoplasia of the fovea, Microphthalmia, Sparse hair, Hyperkerato...	OMIM:308300
Quinquaud Folliculitis Decalvans	Erythema, Abnormal hair morphology, Pustule, Patchy alopecia, Scarring alopecia of scalp, Recurre...	ORPHA:346
Gómez-López-Hernández Syndrome	Telecanthus, Toenail dysplasia, Alopecia of scalp, Corneal opacity	ORPHA:1532
Dermatitis, Atopic	Allergic rhinitis, Keratoconus, Cataract, Atopic dermatitis, Eczematoid dermatitis, Pruritus, Dry...	OMIM:603165
Lymphatic Malformation 4	Toenail dysplasia, Hyperkeratosis, Pedal edema, Lymphedema	OMIM:615907
Mucoepithelial Dysplasia, Hereditary	Pneumonia, Cataract, Alopecia, Coarse hair, Recurrent pneumonia, Chronic mucocutaneous candidiasi...	OMIM:158310
Ectodermal Dysplasia/Skin Fragility Syndrome	Alopecia of scalp, Nail dystrophy, Absent eyelashes, Dystrophic fingernails, Absent eyebrow, Palm...	OMIM:604536
Neuropathy, Hereditary Sensory, Type If	Osteomyelitis, Hyperkeratosis	OMIM:615632
Lipoid Proteinosis	Acne, Thickened skin, Alopecia of scalp, Pustule, Hyperkeratosis	ORPHA:530
Ectodermal Dysplasia 6, Hair/Nail Type	Alopecia, Sparse hair, Thin toenail, Dystrophic toenail	OMIM:614928
Ichthyosis, Annular Epidermolytic, 2	Erythema, Orthokeratosis, Palmoplantar keratoderma, Ichthyosis, Palmoplantar hyperkeratosis, Scal...	OMIM:620148
Spinocerebellar Ataxia 34	Erythroderma, Epidermal hyperkeratosis	OMIM:133190
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Palmoplantar keratoderma, Dry skin, Alopecia of scalp, Nail dystrophy, Conjunctival tel...	OMIM:618373
Chondrodysplasia Punctata 2, X-Linked Dominant	Cataract, Sparse eyebrow, Congenital ichthyosiform erythroderma, Failure to thrive, Downslanted p...	OMIM:302960
Cardiofaciocutaneous Syndrome 3	Webbed neck, Hyperkeratosis, Failure to thrive, Curly hair	OMIM:615279
Inflammatory Skin And Bowel Disease, Neonatal, 1	Paronychia, Blepharitis, Perioral erythema, Failure to thrive, Pustule, Erythroderma, Perianal er...	OMIM:614328
Milroy Disease	Predominantly lower limb lymphedema, Toenail dysplasia, Erysipelas, Lymphedema, Epicanthus, Hyper...	ORPHA:79452
Meige Disease	Facial edema, Predominantly lower limb lymphedema, Skin ulcer, Lymphedema, Cobblestone-like hyper...	ORPHA:90186
Pseudoprogeria Syndrome	Alopecia, Sparse eyebrow, Failure to thrive, Decreased body weight, Absent eyelashes, Absent eyeb...	ORPHA:2985
De Sanctis-Cacchione Syndrome	Keratitis, Parakeratosis, Entropion, Ectropion, Conjunctivitis	OMIM:278800
Dowling-Degos Disease	Hyperkeratotic papule, Acne inversa, Abnormal fingernail morphology, Skin vesicle, Arthritis, Pru...	ORPHA:79145
Autoinflammation With Arthritis And Dyskeratosis	Failure to thrive, Dry skin, Hypereosinophilia, Corneal neovascularization, Punctate keratitis, K...	OMIM:617388
Rhizomelic Chondrodysplasia Punctata	Cataract, Alopecia, Sparse body hair, Dry skin, Ichthyosis, Epicanthus	ORPHA:177
Amelo-Onycho-Hypohidrotic Syndrome	Fine hair, Abnormal fingernail morphology, Dry skin, Hypoplastic toenails, Onycholysis, Hyperkera...	ORPHA:1028
Microphthalmia/Coloboma 4	Microphthalmia, Microcornea, Coloboma, Orbital cyst	OMIM:251505
Alopecia-Intellectual Disability Syndrome 4	Alopecia, Erythroderma, Ichthyosis	OMIM:618840
Nicolaides-Baraitser Syndrome	Highly arched eyebrow, Alopecia, Short palpebral fissure, Eczematoid dermatitis, Downslanted palp...	ORPHA:3051
Acrodermatitis Enteropathica	Erythema, Alopecia, Ridged fingernail, Blepharitis, Skin ulcer, Failure to thrive, Abnormal eyebr...	ORPHA:37
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Multicystic kidney dysplasia, Dry skin, Absent eyelashes, Absent eyebrow, Follicular hyperkeratos...	OMIM:308205
Chronic Mucocutaneous Candidiasis	Erythema, Skin ulcer, Hepatitis, Abnormal fingernail morphology, Skin rash, Abnormal toenail morp...	ORPHA:1334
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Sparse hair, Brittle hair, Hyperkeratosis, Coarse hair	ORPHA:1883
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Recurrent pneumonia, Failure to thrive in infancy, Corneal scarring, Frontal upsweep of hair, Bro...	OMIM:301220
Ichthyosis Vulgaris	Ichthyosis, Dry skin, Eczematoid dermatitis, Absent keratohyalin granules	OMIM:146700
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Atopic dermatitis, Alopecia, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous abscess, Chron...	OMIM:618282
Alopecia-Intellectual Disability Syndrome 1	Alopecia universalis, Alopecia	OMIM:203650
Epidermolysis Bullosa, Junctional 1A, Intermediate	Plantar hyperkeratosis, Patchy alopecia, Nail dystrophy, Fragile nails	OMIM:226650
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Erythema, Dry skin, Ichthyosis, Scaling skin, Hyperkeratosis, Congenital nonbullous ichthyosiform...	OMIM:614457
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Cataract, Failure to thrive, Enterocolitis, Microphthalmia, Hyperkeratosis	OMIM:301108
Winchester Syndrome	Corneal opacity, Hirsutism	OMIM:277950
Arthrogryposis And Ectodermal Dysplasia	Trichiasis, Nuclear cataract, Dry skin, Nail dysplasia, Trichodysplasia, Entropion, Absent eyebro...	OMIM:601701
Cardiofaciocutaneous Syndrome	Dry skin, Excessive wrinkled skin, Low posterior hairline, Epicanthus, Brittle hair, Sparse hair,...	ORPHA:1340
Pachydermoperiostosis	Thickened skin, Palmoplantar keratoderma, Eczematoid dermatitis, Abnormal fingernail morphology, ...	ORPHA:2796
Ectodermal Dysplasia/Short Stature Syndrome	Palmoplantar keratoderma, Nail dystrophy, Anonychia, Epidermal acanthosis, Hyperkeratosis	OMIM:616029
Transgrediens Et Progrediens Palmoplantar Keratoderma	Thickened skin, Dystrophic toenail, Diffuse palmoplantar hyperkeratosis, Dystrophic fingernails, ...	ORPHA:495
Hereditary Sensory And Autonomic Neuropathy Type 1	Osteomyelitis, Hyperkeratosis, Skin ulcer, Penetrating foot ulcers	ORPHA:36386
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Hyperkeratotic papule, Small nail, Abnormal fingernail morphology, Nail dystrophy, Abnormal toena...	ORPHA:79410
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Microcornea, Follicular hyperkeratosis	ORPHA:300179
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	High anterior hairline, Dry hair, Coarse hair, Palmoplantar keratoderma, Failure to thrive, Nail ...	OMIM:620519
Subacute Cutaneous Lupus Erythematosus	Discoid lupus rash, Malar rash, Psoriasiform lesion, Cheilitis, Hyperkeratosis	ORPHA:163525
Syndromic Recessive X-Linked Ichthyosis	Hyperkeratosis, Ichthyosis, Corneal opacity	ORPHA:281090
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Erythema, Eczematoid dermatitis, Redundant skin, Ptosis, Palmoplantar hyperkeratosis, Seborrheic ...	OMIM:259100
Incontinentia Pigmenti	Erythema, Supernumerary nipple, Abnormal hair morphology, Abnormal toenail morphology, Microphtha...	ORPHA:464
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Thickened skin, Alopecia, Erythema, Palmoplantar keratoderma, Skin ulcer, Abnormal fingernail mor...	ORPHA:659
Warburg Micro Syndrome 1	Wide nasal bridge, Facial hypertrichosis, Microcornea, Failure to thrive, Hypertrichosis, Ptosis,...	OMIM:600118
Acute Radiation Syndrome	Cataract, Inflammatory abnormality of the skin, Skin ulcer, Interstitial pneumonitis, Scaling ski...	ORPHA:454831
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Cataract, Alopecia, Sparse eyebrow, Erysipelas, Sparse eyelashes, Nail dysplasia	OMIM:615704
Rhizomelic Chondrodysplasia Punctata, Type 1	Alopecia, Upslanted palpebral fissure, Ichthyosis, Severe failure to thrive, Developmental cataract	OMIM:215100
L-Ferritin Deficiency	Alopecia	OMIM:615604
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Alopecia universalis, Eczematoid dermatitis, Failure to thrive in infancy, Psoriasiform dermatiti...	OMIM:606367
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Loose anagen hair, Webbed neck, Failure to thrive, Eczematoid dermatitis, Downslanted palpebral f...	OMIM:607721
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Long eyelashes, Alopecia, Sparse hair, Small for gestational age	ORPHA:3363
Microcephaly-Microcornea Syndrome, Seemanova Type	Cataract, Microcornea, Upslanted palpebral fissure, Epicanthus, Microphthalmia	ORPHA:2528
Irida Syndrome	Hyperkeratosis, Ichthyosis, Pallor	ORPHA:209981
Variegate Porphyria, Childhood-Onset	Atopic dermatitis, Epidermal hyperkeratosis	OMIM:620483
Short Syndrome	Wide nasal bridge, Alopecia, Hypoplasia of the iris, Megalocornea, Telecanthus, Abnormal pupil mo...	ORPHA:3163
Pierpont Syndrome	High anterior hairline, Microcornea, Failure to thrive, Unilateral narrow palpebral fissure, Tele...	OMIM:602342
Xeroderma Pigmentosum	Cataract, Alopecia, Thickened skin, Keratitis, Erythema, Failure to thrive, Ankyloblepharon, Pter...	ORPHA:910
2Q24 Microdeletion Syndrome	Cataract, Abnormality iris morphology, Failure to thrive, Downslanted palpebral fissures, Colobom...	ORPHA:1617
Ichthyosis, X-Linked	Ichthyosis, Opacification of the corneal stroma, Palmoplantar keratoderma, Congenital ichthyosifo...	OMIM:308100
Acrokeratoelastoidosis Of Costa	Hyperkeratotic papule, Orthokeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Epidermal ac...	ORPHA:38
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	Ridged nail, Nail pits, Congenital alopecia totalis	ORPHA:169095
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Alopecia totalis	ORPHA:1014
Alopecia-Intellectual Disability Syndrome	Alopecia, Sparse body hair, Ichthyosis, Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair	ORPHA:2850
Thumb Deformity And Alopecia	Alopecia	OMIM:188150
Rapp-Hodgkin Syndrome	Sparse hair, Sparse eyebrow, Thin skin, Palmoplantar keratoderma, Small nail, Decreased number of...	OMIM:129400
Alopecia, Familial Focal	Patchy alopecia	OMIM:104110
Pierpont Syndrome	High anterior hairline, Microcornea, Telecanthus, Excessive wrinkling of palmar skin, Narrow palp...	ORPHA:487825
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Chorioretinal coloboma, Posterior embryotoxon, Ptosis, Corneal opacity, Microphthalmia,...	ORPHA:1473
Alopecia-Intellectual Disability Syndrome 2	Alopecia universalis	OMIM:610422
Alopecia-Intellectual Disability Syndrome 3	Alopecia universalis	OMIM:613930
Microphthalmia, Isolated, With Cataract 1	Cataract, Microphthalmia	OMIM:156850
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
X-Linked Agammaglobulinemia	Alopecia, Recurrent pneumonia, Skin ulcer, Failure to thrive, Hepatitis, Osteomyelitis, Skin rash...	ORPHA:47
Dermatopathia Pigmentosa Reticularis	Palmoplantar hyperkeratosis, Alopecia of scalp, Nail dystrophy, Abnormal conjunctiva morphology	OMIM:125595
Immunodeficiency 58	Allergic rhinitis, Recurrent pneumonia, Bronchiectasis, Failure to thrive, Eczematoid dermatitis,...	OMIM:618131
Oculocutaneous Albinism Type 1A	Iris hypopigmentation, Thickened skin, Ocular albinism, Hypoplasia of the fovea, Albinism, Hypopi...	ORPHA:79431
Basan Syndrome	Epidermal acanthosis, Palmoplantar keratoderma, Nail dystrophy	OMIM:129200
Noonan Syndrome 10	Webbed neck, Sparse eyebrow, Downslanted palpebral fissures, Increased nuchal translucency, Pleur...	OMIM:616564
Palmoplantar Keratoderma, Punctate Type Ia	Epidermal acanthosis, Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis	OMIM:148600
Prolidase Deficiency	Recurrent pneumonia, Skin ulcer, Failure to thrive, Eczematoid dermatitis, Facial hirsutism, Pete...	OMIM:170100
Pachyonychia Congenita 2	Subungual hyperkeratosis, Dry hair, Sparse eyebrow, Folliculitis, Nail dystrophy, Nail dysplasia,...	OMIM:167210
Bullous Dystrophy, Hereditary Macular Type	Alopecia totalis, Abnormality of the nail	OMIM:302000
Chronic Actinic Dermatitis	Allergic rhinitis, Eczematoid dermatitis, Erythroderma, Late onset atopic dermatitis, Epidermal a...	ORPHA:330064
Cortisone Reductase Deficiency 1	Acne, Alopecia, Obesity, Hirsutism	OMIM:604931
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Wide nasal bridge, Highly arched eyebrow, Alopecia, Sparse lateral eyebrow, Dystrophic toenail, D...	ORPHA:3253
Premature Aging Syndrome, Penttinen Type	Thickened skin, Failure to thrive, Corneal stromal edema, Palmoplantar hyperkeratosis, Shallow or...	OMIM:601812
Pachyonychia Congenita 1	Follicular hyperkeratosis, Palmoplantar hyperkeratosis, Nail dystrophy, Onychogryposis	OMIM:167200
Ectodermal Dysplasia-Skin Fragility Syndrome	Alopecia universalis, Cheilitis, Recurrent pneumonia, Palmoplantar keratoderma, Failure to thrive...	ORPHA:158668
Corneal Dystrophy, Endothelial, X-Linked	Band keratopathy, Corneal dystrophy, Corneal opacity	OMIM:300779
Pseudopelade Of Brocq	Alopecia, Abnormal hair morphology, Recurrent skin infections, Aplasia/Hypoplasia of the eyebrow,...	ORPHA:129
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Alopecia, Ichthyosis, Upslanted palpebral fissure, Abnormal toenail morphology, Sparse hair, Hype...	ORPHA:1005
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal dystrophy, Corneal opacity	OMIM:609140
Corneal Dystrophy-Perceptive Deafness Syndrome	Corneal dystrophy, Corneal opacity	ORPHA:1490
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Alopecia, Failure to thrive, Psoriasiform lesion, Eosinophilia, Erythroderma	ORPHA:169154
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Fine hair, Abnormal fingernail morphology, Abnormal hair morphology, Dry skin, Abnormal...	ORPHA:248
Porphyria Cutanea Tarda	Alopecia, Scleroderma, Onycholysis, Facial hypertrichosis	OMIM:176100
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Dry skin, Follicular hyperkeratosis	OMIM:617066
Dracunculiasis	Skin ulcer, Skin rash, Arthritis, Pruritus, Recurrent cutaneous abscess formation	ORPHA:231
Hereditary Acrokeratotic Poikiloderma	Erythema, Xerostomia, Dystrophic toenail, Skin ulcer, Eczematoid dermatitis, Nail dystrophy, Icht...	ORPHA:2907
Chilblain Lupus 1	Chilblains, Skin ulcer, Abnormality of the nail	OMIM:610448
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Erythema, Dystrophic toenail, Crusting erythematous dermatitis, Dystrophic fingernails, Palmoplan...	ORPHA:158673
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Wide nasal bridge, Keratitis, Downslanted palpebral fissures, Recurrent otitis media, Thick eyebr...	OMIM:602562
Hemihyperplasia-Multiple Lipomatosis Syndrome	Ovarian serous cystadenoma, Seborrheic dermatitis, Hyperparakeratosis	ORPHA:276280
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Alopecia, Recurrent pneumonia, Recurrent sinusitis, Pyoderma gangrenosum, Rec...	OMIM:616576
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Corneal dystrophy, Corneal opacity	ORPHA:3177
Nasopalpebral Lipoma-Coloboma Syndrome	Wide nasal bridge, Sparse eyebrow, Ectopic lacrimal punctum, Telecanthus, Lower eyelid coloboma, ...	OMIM:167730
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Dry skin, Overweight, Follicular hyperkeratosis	ORPHA:486815
Oculomaxillofacial Dysostosis	Wide nasal bridge, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Upslanted palpe...	ORPHA:1794
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Alopecia, Toenail dysplasia, Ectopia lentis, Abnormal fingernail morphology, Fingernail dysplasia...	ORPHA:2325
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Thickened skin, Abnormal hair morphology, Dry skin, Anophthalmia, Abnormal toenail morphology, Ab...	ORPHA:2526
Ichthyosis With Alopecia, Eclabium, Ectropion, And Impaired Intellectual Development	Ectropion, Alopecia, Ichthyosis	OMIM:242510
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Generalized hypotrichosis, Sparse eyebrow, Nuclear cataract, Palmoplantar keratoderma, Absent hai...	ORPHA:1010
Reactive Arthritis	Inflammation of the large intestine, Osteomyelitis, Recurrent aphthous stomatitis, Joint swelling...	ORPHA:29207
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Failure to thrive in infancy, Osteomyelitis, Skin rash, Joint swelling, Pustule, Epidermal acanth...	OMIM:612852
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection	Pyoderma gangrenosum, Chronic furunculosis, Cutaneous abscess	OMIM:619986
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Wide nasal bridge, Alopecia, Failure to thrive, Upslanted palpebral fissure, Epicanthus, Brittle ...	ORPHA:50812
Trichothiodystrophy	Dry skin, Epicanthus, Brittle hair, Split nail, Microcornea, Eczematoid dermatitis, Bilateral mic...	ORPHA:33364
Cronkhite-Canada Syndrome	Cataract, Alopecia, Dystrophic toenail, Sparse body hair, Abnormal fingernail morphology, Lymphed...	ORPHA:2930
Oculocerebrocutaneous Syndrome	Alopecia, Eyelid coloboma, Anophthalmia, Orbital cyst, Microphthalmia	OMIM:164180
Lymphatic Malformation 12	Fetal ascites, Lymphedema, Nonimmune hydrops fetalis, Polyhydramnios, Hyperkeratosis	OMIM:620014
Tyrosinemia Type 2	Palmoplantar keratoderma, Abnormality of the nail, Hyperkeratosis, Corneal opacity	ORPHA:28378
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome	Palmoplantar hyperkeratosis, Hyperkeratotic papule, Leukonychia, Palmoplantar keratoderma	ORPHA:2698
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Bitot spots of the conjunctiva, Follicular hyperkeratosis	OMIM:277350
Leprosy	Corneal perforation, Alopecia, Uveitis, Sparse body hair, Penetrating foot ulcers, Paralytic lago...	ORPHA:548
Macs Syndrome	Wide nasal bridge, Alopecia, Sparse eyebrow, Downslanted palpebral fissures, Recurrent aphthous s...	OMIM:613075
Diffuse Cutaneous Mastocytosis	Thickened skin, Erythroderma, Scaling skin, Pruritus, Peau d'orange	ORPHA:79456
Chime Syndrome	Erythema, Skin ulcer, Fine hair, Retinal coloboma, Ichthyosis, Upslanted palpebral fissure, Epica...	ORPHA:3474
Sialidosis Type 1	Wide nasal bridge, Cataract, Hyperkeratosis, Corneal opacity	ORPHA:812
Trichothiodystrophy 3, Photosensitive	Cataract, Congenital ichthyosiform erythroderma, Failure to thrive, Trichorrhexis nodosa, Tiger t...	OMIM:616395
Trichothiodystrophy 4, Nonphotosensitive	Microcornea, Small nail, Trichorrhexis nodosa, Microphthalmia, Concave nail, Nail dystrophy, Spar...	OMIM:234050
Cataract-Microcornea Syndrome	Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy	ORPHA:1377
Congenital Disorder Of Glycosylation, Type Iil	Inflammation of the large intestine, Failure to thrive, Dry skin, Epicanthus, Hyperkeratosis, Pea...	OMIM:614576
Familial Keratoacanthoma	Hyperkeratosis, Skin ulcer	ORPHA:493
Drug Reaction With Eosinophilia And Systemic Symptoms	Erythema, Hepatitis, Angioedema, Interstitial pneumonitis, Skin rash, Infectious encephalitis, Pu...	ORPHA:139402
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Cataract, Microcornea, Myopic astigmatism, Downslanted palpebral fissures, Lymphedema, Astigmatis...	OMIM:152950
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Erythema, Abnormal hair morphology, Abnormal nasolacrimal system morphology, Scleritis, Absent ey...	ORPHA:2273
Proliferating Trichilemmal Cyst	Skin ulcer, Sparse scalp hair	ORPHA:492
Pili Torti	Alopecia, Abnormal eyebrow morphology, Pili torti, Brittle hair, Abnormality of hair texture, Abn...	ORPHA:2889
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia, Eczematoid dermatitis, Failure to thrive, Hepatitis, Eosinophilia, Erythroderma, Glomer...	OMIM:304790
Renpenning Syndrome	Cataract, Alopecia, Abnormal hairshaft morphology, Thin eyebrow, Upslanted palpebral fissure, Epi...	ORPHA:3242
Nasopalpebral Lipoma-Coloboma Syndrome	Cataract, Sparse eyebrow, Hamartoma of the orbital region, Bilateral microphthalmos, Lacrimal pun...	ORPHA:2399
Monosomy 18P	Wide nasal bridge, Webbed neck, Alopecia, Lymphedema, Low posterior hairline, Epicanthus, Ptosis,...	ORPHA:1598
Hypomelanosis Of Ito	Cataract, Alopecia, Iris coloboma, Epicanthus	OMIM:300337
Inflammatory Skin And Bowel Disease, Neonatal, 2	Recurrent pneumonia, Failure to thrive, Long eyelashes, Pustule, Polyhydramnios, Epidermal acanth...	OMIM:616069
Reticular Dysgenesis	Skin ulcer, Failure to thrive, Skin rash, Weight loss, Chronic otitis media, Dehydration	ORPHA:33355
Crandall Syndrome	Alopecia, Fine hair, Sparse body hair, Brittle hair, Pili torti, Aplasia/Hypoplasia of the eyebrow	ORPHA:202
Idiopathic Localized Lipodystrophy	Erythema, Inflammatory abnormality of the skin, Scleroderma, Morphea, Scaling skin, Pruritus	ORPHA:90158
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hyperkeratosis, Lymphedema	ORPHA:79279
Donohue Syndrome	Hypertrichosis, Ovarian cyst, Nail dysplasia, Severe failure to thrive, Acanthosis nigricans, Hyp...	OMIM:246200
Bartsocas-Papas Syndrome	Popliteal pterygium, Ankyloblepharon, Alopecia totalis, Sparse or absent eyelashes, Eyelid colobo...	ORPHA:1234
Centrifugal Lipodystrophy	Erythema, Alopecia, Inflammatory abnormality of the skin, Lymphadenitis, Scaling skin	ORPHA:90156
Cardiofaciocutaneous Syndrome 1	Webbed neck, Palpebral thickening, Atopic dermatitis, Failure to thrive, Downslanted palpebral fi...	OMIM:115150
Galactosialidosis	Corneal opacity	ORPHA:351
Werner Syndrome	Abnormal hair whorl, Cataract, Skin ulcer, Premature graying of hair, Slender build, White forelo...	ORPHA:902
Dermatofibrosarcoma Protuberans	Thickened skin, Skin ulcer, Erythema	ORPHA:31112
Fibrodysplasia Ossificans Progressiva	Alopecia, Failure to thrive	ORPHA:337
Adams-Oliver Syndrome 2	Alopecia, Small nail, Oligohydramnios, Low anterior hairline, Narrow palpebral fissure, Developme...	OMIM:614219
Trichorhinophalangeal Syndrome, Type Iii	Sparse hair, Sparse lateral eyebrow, Fine hair, Epidermal hyperkeratosis	OMIM:190351
Mednik Syndrome	Hyperkeratosis, Ichthyosis	ORPHA:171851
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hyperkeratosis	OMIM:145250
Fucosidosis	Failure to thrive, Abnormality of the nail, Generalized hyperkeratosis, Corneal opacity	ORPHA:349
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Nanophthalmos 2	Microphthalmia	OMIM:609549
Frontofacionasal Dysplasia	Cataract, Microcornea, Telecanthus, Limbal dermoid, Absent inner eyelashes, Upper eyelid coloboma...	ORPHA:1791
Omenn Syndrome	Pneumonia, Thickened skin, Alopecia, Failure to thrive, Eosinophilia, Erythroderma	OMIM:603554
Alopecia Universalis	Alopecia universalis, Atopic dermatitis, Psoriasiform dermatitis, Absent eyelashes, Patchy alopec...	ORPHA:701
Marie Unna Hereditary Hypotrichosis	Alopecia, Coarse hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse scal...	ORPHA:444
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Adult Syndrome	Wide nasal bridge, Alopecia, Toenail dysplasia, Absent nipple, Skin ulcer, Fine hair, Breast hypo...	ORPHA:978
Bone Marrow Failure Syndrome 3	Small nail, Failure to thrive, Downslanted palpebral fissures, Eczematoid dermatitis, Astigmatism...	OMIM:617052
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Alopecia, Nail pits, Ridged nail, Nail dystrophy	OMIM:601705
Isolated Agammaglobulinemia	Pneumonia, Skin ulcer, Failure to thrive, Otitis media, Skin rash, Arthritis, Sinusitis, Inflamma...	ORPHA:229717
Mucolipidosis Type Iii	Acne, Corneal opacity	ORPHA:577
Atopic Keratoconjunctivitis	Keratitis, Dry skin, Allergic conjunctivitis, Corneal scarring, Corneal neovascularization, Loss ...	ORPHA:163934
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hyperkeratosis, Short nose, Microphthalmia	ORPHA:163966
Cataract 9, Multiple Types	Cataract, Microcornea, Progressive cataract, Developmental cataract, Microphthalmia, Iris coloboma	OMIM:604219
Microphthalmia, Syndromic 8	Microcornea, Short palpebral fissure, Premature skin wrinkling, Blepharophimosis, Microphthalmia	OMIM:601349
Mucous Membrane Pemphigoid	Corneal opacity	ORPHA:46486
Microphthalmia, Syndromic 13	Microcornea, Chorioretinal coloboma, Ptosis, Microphthalmia, Iris coloboma	OMIM:300915
Developmental Delay With Variable Neurologic And Brain Abnormalities	Cataract, Sparse lateral eyebrow, Astigmatism, Upslanted palpebral fissure, Long palpebral fissur...	OMIM:619694
Gombo Syndrome	Microphthalmia	OMIM:233270
Eec Syndrome	Sparse eyebrow, Coarse hair, Keratitis, Blepharitis, Fine hair, Xerostomia, Dry skin, Thick eyebr...	ORPHA:1896
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Abnormal sweat gland morphology, Alopecia, Predominantly lower limb lymphedema, Nonimmune hydrops...	OMIM:607823
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Alopecia, Sparse eyebrow, Dystrophic toenail, Fine hair, Dystrophic fingernails, Sparse scalp hair	ORPHA:1882
Singleton-Merten Syndrome 2	Psoriasiform lesion, Hyperkeratosis	OMIM:616298
Kindler Epidermolysis Bullosa	Erythema, Inflammation of the large intestine, Cheilitis, Palmoplantar keratoderma, Periodontitis...	ORPHA:2908
Cataract 21, Multiple Types	Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Macular hypoplasia, Corneal opacit...	OMIM:610202
Acrogeria	Excessive wrinkled skin, Skin ulcer, Fine hair, Thin skin	ORPHA:2500
Glaucoma 3, Primary Congenital, D	Primary congenital glaucoma, Ectopia lentis, Corneal opacity	OMIM:613086
Bilateral Striopallidodentate Calcinosis	Corneal opacity	ORPHA:1980
Baraitser-Winter Syndrome 2	Highly arched eyebrow, Webbed neck, Telecanthus, Long palpebral fissure, Ptosis, Coloboma, Microp...	OMIM:614583
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Predominantly lower limb lymphedema, Alopecia, Sparse body hair, Ascites, Pleural effusion, Absen...	ORPHA:69735
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Erythema, Alopecia, Palmoplantar keratoderma, Failure to thrive, Nail dystrophy, Corneal opacity,...	ORPHA:79396
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Wide nasal bridge, Skin ulcer, Eczematoid dermatitis, Abnormal hair morphology, Osteomyelitis, Sk...	ORPHA:2314
Pachyonychia Congenita 3	Palmoplantar keratoderma, Chapped lip, Onychogryposis of toenails, Nail dystrophy, Follicular hyp...	OMIM:615726
Hypotrichosis 5	Abnormal sweat gland morphology, Alopecia, Thin eyebrow, Sparse eyelashes, Absent pubic hair, Abs...	OMIM:612841
Flynn-Aird Syndrome	Cataract, Alopecia, Cachexia, Skin ulcer	ORPHA:2047
Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism	Alopecia, Telecanthus	OMIM:203550
Chanarin-Dorfman Syndrome	Ectropion, Alopecia, Congenital nonbullous ichthyosiform erythroderma, Subcapsular cataract	OMIM:275630
Holocarboxylase Synthetase Deficiency	Perioral eczema, Alopecia, Eczematoid dermatitis, Keratoconjunctivitis, Weight loss	ORPHA:79242
Systemic Lupus Erythematosus 17	Optic neuritis, Alopecia, Malar rash, Myelitis	OMIM:301080
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Cataract, Low anterior hairline, Coloboma, Corneal opacity, Microphthalmia	OMIM:613153
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Short nose, Corneal opacity	ORPHA:2370
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Ankyloblepharon, Anophthalmia, Microphthalmia	ORPHA:85275
Sjogren-Larsson Syndrome	Abnormal hair morphology, Ichthyosis, Astigmatism, Opacification of the corneal epithelium, Abnor...	OMIM:270200
Acral Peeling Skin Syndrome	Erythema, Eczematoid dermatitis, Excessive wrinkling of palmar skin, Ichthyosis, Scaling skin	ORPHA:263534
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Inflammation of the large intestine, Lymphadenitis, Failure to thrive, Eczematoid dermatitis, Nai...	OMIM:615895
Hermansky-Pudlak Syndrome	Iris hypopigmentation, Cataract, Thickened skin, Ocular albinism, Long eyelashes, Astigmatism, We...	ORPHA:79430
Cerebrooculofacioskeletal Syndrome 1	Cataract, Recurrent pneumonia, Failure to thrive, Hirsutism, Blepharophimosis, Microphthalmia, Sm...	OMIM:214150
Copper Deficiency, Familial Benign	Seborrheic dermatitis, Early balding, Failure to thrive, Curly hair	OMIM:121270
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Pneumonia, Recurrent pneumonia, Hepatitis, Failure to thrive secondary to recurrent infections, O...	ORPHA:169160
Papillon-Lefèvre Syndrome	Palmoplantar keratoderma, Periodontitis, Hypertrichosis, Abnormal fingernail morphology, Sparse b...	ORPHA:678
Hereditary Bullous Dystrophy, Macular Type	Pneumonia, Cataract, Alopecia, Atrichia, Nail dystrophy, Corneal opacity, Congenital abnormal hai...	ORPHA:1867
Foveal Hypoplasia 2	Astigmatism, Axenfeld anomaly, Hypoplasia of the fovea, Posterior embryotoxon, Microphthalmia	OMIM:609218
Bresek Syndrome	Alopecia, Ichthyosis, Microphthalmia, Iris coloboma, Optic nerve hypoplasia	ORPHA:85284
Noonan Syndrome 2	Wide nasal bridge, Webbed neck, Sparse eyebrow, Downslanted palpebral fissures, Telecanthus, Incr...	OMIM:605275
Dermatomyositis	Erythema, Abnormal eosinophil morphology, Dry skin, Weight loss, Periorbital edema, Abnormality o...	ORPHA:221
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Small nail, Downslanted palpebral fissures, Telecanthus, Astigmatism, Redundant neck skin, Hirsut...	OMIM:301056
Microphthalmia/Coloboma 10	Chorioretinal coloboma, Anophthalmia, Microcoria, Microphthalmia, Iris coloboma	OMIM:616428
Rothmund-Thomson Syndrome	Facial edema, Sparse eyebrow, Small for gestational age, Small nail, Porokeratosis, Alopecia tota...	ORPHA:2909
Ectodermal Dysplasia 7, Hair/Nail Type	Abnormal sweat gland morphology, Alopecia, Sparse eyebrow, Dystrophic toenail, Sparse eyelashes, ...	OMIM:614929
Cataract 11, Multiple Types	Cataract, Developmental cataract, Microphthalmia	OMIM:610623
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Coloboma, Optic disc hypoplasia, Bilateral microphthalmos	OMIM:613703
Lattice Corneal Dystrophy Type I	Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur...	ORPHA:98964
Chondrodysplasia Punctata, Autosomal Dominant	Cataract, Hyperkeratosis with erythema, Sparse hair, Coarse hair	OMIM:118650
Erythroderma, Lethal Congenital	Congenital exfoliative erythroderma, Failure to thrive	OMIM:227090
Reynolds Syndrome	Xerostomia, Skin ulcer, Ascites, Skin rash, Infectious encephalitis, Keratoconjunctivitis sicca, ...	ORPHA:779
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Alopecia, Fine hair, Telecanthus, Oligohydramnios, Upslanted palpebral fissure, Microphthalmia	ORPHA:228390
Baraitser-Winter Syndrome 1	Wide nasal bridge, Highly arched eyebrow, Failure to thrive, Chorioretinal coloboma, Low posterio...	OMIM:243310
Cerebrooculofacioskeletal Syndrome 3	Edema, Microphthalmia	OMIM:616570
Xeroderma Pigmentosum, Complementation Group G	Cataract, Small for gestational age, Microphthalmia	OMIM:278780
Frontonasal Dysplasia 1	Wide nasal bridge, Cataract, Epicanthus, Ptosis, Coloboma, Microphthalmia, Widow's peak	OMIM:136760
Dyskeratosis Congenita	Cataract, Alopecia, Palmoplantar keratoderma, Skin ulcer, White hair, Premature graying of hair, ...	ORPHA:1775
Juvenile Hyaline Fibromatosis	Abnormal hair morphology, Skin ulcer	ORPHA:2028
Gaucher Disease, Perinatal Lethal	Ascites, Petechiae, Ichthyosis, Decreased body weight, Nonimmune hydrops fetalis, Hyperkeratosis,...	OMIM:608013
Fanconi Anemia, Complementation Group S	Failure to thrive, Long eyelashes, Upslanted palpebral fissure, Low anterior hairline, Epicanthus...	OMIM:617883
Mixed Connective Tissue Disease	Alopecia, Xerostomia, Skin rash, Joint swelling, Scleroderma, Myositis, Gastritis, Keratoconjunct...	ORPHA:809
Sandestig-Stefanova Syndrome	Wide nasal bridge, Highly arched eyebrow, Sparse medial eyebrow, Epicanthus, Developmental catara...	OMIM:618804
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Epicanthus, Alopecia, Iris coloboma	ORPHA:88630
Congenital Rubella Syndrome	Cataract, Skin rash, Aplasia/Hypoplasia of the iris, Corneal opacity, Microphthalmia	ORPHA:290
Bartsocas-Papas Syndrome 2	Axillary pterygium, Popliteal pterygium, Ankyloblepharon, Microphthalmia, Corneal opacity, Antecu...	OMIM:619339
Harel-Yoon Syndrome	Short nose, Upslanted palpebral fissure, Developmental cataract, Corneal opacity	OMIM:617183
Huriez Syndrome	Epidermal acanthosis, Nail dystrophy, Small nail, Congenital palmoplantar hyperkeratosis	OMIM:181600
Corneal Dystrophy, Reis-Bucklers Type	Corneal opacity, Palpebral edema, Opacification of the corneal stroma, Corneal dystrophy, Corneal...	OMIM:608470
Dihydropyrimidine Dehydrogenase Deficiency	Coloboma, Failure to thrive, Microphthalmia	OMIM:274270
8Q21.11 Microdeletion Syndrome	Iris hypopigmentation, Cataract, Eczematoid dermatitis, Downslanted palpebral fissures, Microphth...	ORPHA:284160
Kury-Isidor Syndrome	Alopecia, Downslanted palpebral fissures, Hypertrichosis, Recurrent otitis media, Astigmatism, Pt...	OMIM:619762
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Wide nasal bridge, Sparse eyebrow, High anterior hairline, Supernumerary nipple, Downslanted palp...	OMIM:620098
Punctate Palmoplantar Keratoderma Type 1	Hyperkeratotic papule, Abnormal epidermal morphology, Orthokeratosis, Palmoplantar keratoderma, H...	ORPHA:79501
Mucolipidosis Type Iv	Palmoplantar keratoderma, Corneal opacity	ORPHA:578
Monosomy 22	Thickened skin, Joint swelling, Scleroderma, Epicanthus, Seborrheic dermatitis, Narrow palpebral ...	ORPHA:96123
Ramon Syndrome	Hypertrichosis, Axenfeld anomaly, Decreased body weight, Juvenile rheumatoid arthritis, Hyperkera...	OMIM:266270
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Ptosis, High anterior hairline, Anisocoria, Hyperkeratosis	OMIM:615510
Oculodentodigital Dysplasia, Autosomal Recessive	Cataract, Microcornea, Short palpebral fissure, Failure to thrive, Fine hair, Downslanted palpebr...	OMIM:257850
Warburg-Cinotti Syndrome	Symblepharon, Erythema, Thin skin, Corneal neovascularization, Limbal stem cell deficiency, Joint...	OMIM:618175
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse	Plantar hyperkeratosis, Epidermal acanthosis, Palmoplantar keratoderma	OMIM:615735
Anterior Segment Dysgenesis 7	Cataract, Microcornea, Microphthalmia, Anterior synechiae of the anterior chamber, Ocular anterio...	OMIM:269400
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cataract, Microcornea, Microphthalmia	OMIM:616171
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Peters anomaly, Coloboma, Ocular anterior segment dysgenesis, Microphthalmia, Iris coloboma	OMIM:610023
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Wide nasal bridge, Ankyloblepharon, Palmoplantar keratoderma, Supernumerary nipple, Sparse body h...	OMIM:106260
Papa Syndrome	Skin ulcer, Crohn's disease, Increased inflammatory response, Myositis, Pustule, Arthritis, Acne	ORPHA:69126
Microphthalmia/Coloboma 5	Chorioretinal coloboma, Bilateral microphthalmos, Anophthalmia, Microphthalmia, Iris coloboma	OMIM:611638
Familial Hemophagocytic Lymphohistiocytosis	Skin rash, Petechiae, Ecchymosis, Infectious encephalitis, Erythroderma, Colitis, Maculopapular e...	ORPHA:540
Multiple Benign Circumferential Skin Creases On Limbs	Thickened skin, Microcornea, Generalized hirsutism, Epicanthus, Microphthalmia, Edema	ORPHA:2505
Cofs Syndrome	Wide nasal bridge, Cataract, Microphthalmia	ORPHA:1466
Spondylo-Ocular Syndrome	Iris hypopigmentation, Cataract, Webbed neck, Abnormal eyebrow morphology, Low posterior hairline...	ORPHA:85194
Bartsocas-Papas Syndrome 1	Small nail, Alopecia totalis, Dry skin, Absent eyelashes, Cicatricial lagophthalmos, Absent eyebr...	OMIM:263650
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Cataract, Downslanted palpebral fissures, Epicanthus, Microphthalmia, Sparse hair, Short nose	OMIM:614105
Anterior Segment Dysgenesis 8	Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro...	OMIM:617319
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Alopecia, Hypoplastic fingernail, Hyperconvex fingernails, Skin vesicle, Ptosis	ORPHA:257
Microphthalmia/Coloboma 3	Cataract, Iris coloboma, Microphthalmia	OMIM:610092
Rothmund-Thomson Syndrome, Type 2	Cataract, Alopecia, Sparse eyebrow, Microcornea, Premature graying of hair, Short nose, Nail dyst...	OMIM:268400
Deafness, X-Linked 7	Wide nasal bridge, Telecanthus, Thick eyebrow, Unilateral microphthalmos, Ptosis	OMIM:301018
Autosomal Dominant Keratitis	Cataract, Microcornea, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus morphology, A...	ORPHA:2334
Generalized Pustular Psoriasis	Cheilitis, Obesity, Palmoplantar pustulosis, Pustule, Erythroderma, Arthritis, Overweight, Abnorm...	ORPHA:247353
Linear Skin Defects With Multiple Congenital Anomalies 2	Highly arched eyebrow, Nail dystrophy, Short nose, Microphthalmia	OMIM:300887
Gomez-Lopez-Hernandez Syndrome	Alopecia, Opacification of the corneal stroma, Short nose, Downslanted palpebral fissures	OMIM:601853
Combined Immunodeficiency Due To Dock8 Deficiency	Pneumonia, Atopic dermatitis, Skin ulcer, Recurrent sinusitis, Chronic otitis media, Recurrent ba...	ORPHA:217390
Biotinidase Deficiency	Alopecia, Skin rash, Seborrheic dermatitis, Conjunctivitis, Recurrent skin infections	OMIM:253260
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