Not currently registered for phenotyping at IMPC

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

Gene Summary

desmocollin 1
Dsc1b,  Dsc1a

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


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.

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 Similarity of
Matching phenotypes Source
Hypotrichosis Simplex Of The Scalp
Abnormal eyebrow morphology, Parakeratosis, Sparse scalp hair, Epidermal acanthosis, Allergic rhi... ORPHA:90368
Bathing Suit Ichthyosis
Alopecia, Parakeratosis, Epidermal acanthosis, Thickened skin, Palmoplantar hyperkeratosis, Ichth... ORPHA:100976
Ichthyosis, Congenital, Autosomal Recessive 1
Alopecia, Parakeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis, Ichthyosis, Congenita... OMIM:242300
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Alopecia, Sparse eyelashes, Edema, Acantholysis, Sparse eyebrow, Palmoplantar hyperkeratosis, Pal... OMIM:605676
Keratoderma Hereditarium Mutilans With Ichthyosis
Parakeratosis, Alopecia, Scaling skin on fingertip, Epidermal acanthosis, Hypergranulosis, Honeyc... ORPHA:79395
Graham Little-Piccardi-Lassueur Syndrome
Sparse scalp hair, Alopecia, Sparse axillary hair, Pruritus, Perifollicular hyperkeratosis, Spars... ORPHA:505
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Parakeratosis, Epidermal acanthosis, Alopecia totalis, Posterior blepha... OMIM:300918
Olmsted Syndrome 1
Subungual hyperkeratosis, Parakeratosis, Corneal opacity, Pruritus, Hyperparakeratosis, Periorifi... OMIM:614594
Erythrokeratodermia Variabilis Et Progressiva 5
Abnormal hair morphology, Hyperkeratosis, Onychogryposis, Palmoplantar hyperkeratosis OMIM:617756
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Epidermal acanthosis, Angular cheilitis, Acantholysis, Pruritus, Punctate palmoplantar hyperkerat... OMIM:616295
Ichthyosis, Hystrix-Like, With Deafness
Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, Scarring alopecia of scalp... OMIM:602540
Olmsted Syndrome 2
Parakeratosis, Epidermal acanthosis, Pruritus, Perioral hyperkeratosis, Cheilitis, Palmoplantar h... OMIM:619208
Autosomal Dominant Epidermolytic Ichthyosis
Skin ulcer, Weight loss, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmoplan... ORPHA:312
Ichthyosis, Congenital, Autosomal Recessive 6
Parakeratosis, Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Gene... OMIM:612281
Pruritic Urticarial Papules And Plaques Of Pregnancy
Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Increased body weight, Facial ery... ORPHA:64745
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, A... OMIM:615508
Bazex Syndrome
Parakeratosis, Edema, Pruritus, Yellow nails, Hyperkeratosis, Palmoplantar keratoderma, Nail dyst... ORPHA:166113
Acrokeratosis Verruciformis Of Hopf
Parakeratosis, Epidermal acanthosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperke... ORPHA:79151
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Abnormal fingernail morphology, Sparse eyebrow, Hypoplastic toenails, Palmoplantar kera... ORPHA:2722
Superficial Epidermolytic Ichthyosis
Edema, Acantholysis, Erythema, Palmoplantar keratoderma, Thin skin, Ichthyosis ORPHA:455
Insulin-Resistance Syndrome Type A
Hyperkeratosis, Generalized hirsutism ORPHA:2297
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Parakeratosis, Hyperconvex nail, Linear arrays of macular hyperkeratoses in flexural areas, Honey... OMIM:601952
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Parakeratosis, Pruritus, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Nail dy... OMIM:615821
Netherton Syndrome
Hypernatremic dehydration, Sparse scalp hair, Parakeratosis, Brittle hair, Recurrent skin infecti... OMIM:256500
Porokeratosis Plantaris Palmaris Et Disseminata
Pruritus, Hyperkeratotic papule, Palmoplantar hyperkeratosis, Porokeratosis ORPHA:737
Palmoplantar Keratoderma, Norrbotten Recessive Type
Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections OMIM:244850
Acrokeratosis Verruciformis
Ridged nail, Epidermal acanthosis, Acrokeratosis, Punctate palmoplantar hyperkeratosis, Hyperkera... OMIM:101900
Pemphigus Foliaceus
Psoriasiform dermatitis, Acantholysis, Pruritus, Pustule, Crusting erythematous dermatitis, Eryth... ORPHA:79481
Congenital Ichthyosiform Erythroderma
Alopecia, Keratitis, Pruritus, Corneal erosion, Ichthyosis, Palmoplantar keratoderma, Erythroderm... ORPHA:79394
Ulerythema Ophryogenesis
Acne, Dry skin, Facial erythema, Follicular hyperkeratosis, Hyperkeratotic papule, Contact dermat... ORPHA:3406
Ichthyosis, Annular Epidermolytic, 1
Abnormal hair morphology, Erythema, Hyperparakeratosis, Palmoplantar hyperkeratosis, Congenital b... OMIM:607602
Ichthyosis With Confetti
Pruritus, Hypertrichosis, Palmoplantar hyperkeratosis, Ichthyosis, Hypoplastic nipples, Scaling s... OMIM:609165
Erythrokeratodermia Variabilis
Alopecia, Cataract, Skin rash, Corneal opacity, Abnormal hair morphology, Erythema, Patchy palmop... ORPHA:317
Palmoplantar Keratoderma And Congenital Alopecia 2
Alopecia totalis, Palmoplantar hyperkeratosis, Facial erythema, Developmental cataract, Hyperkera... OMIM:212360
Anonychia With Flexural Pigmentation
Abnormal hair morphology, Hyperkeratosis, Alopecia of scalp, Follicular hyperkeratosis, Anonychia ORPHA:69125
Vulvovaginal Gingival Syndrome
Ridged nail, Parakeratosis, Epidermal acanthosis, Pruritus, Erythema ORPHA:83453
Psoriasis 2
Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Hyperkeratosis, Scaling skin OMIM:602723
Ichthyosis, Lamellar, Autosomal Dominant
Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma OMIM:146750
Congenital Panfollicular Nevus
Pruritus, Hyperkeratosis ORPHA:139414
Classic Mycosis Fungoides
Alopecia, Skin rash, Eczema, Edema, Abnormal eyelid morphology, Pruritus, Erythema, Skin ulcer, H... ORPHA:2584
Ichthyosis Hystrix Of Curth-Macklin
Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Nail dystrophy, I... ORPHA:79503
Lamellar Ichthyosis
Pruritus, Lack of skin elasticity, Dehydration, Hyperkeratosis, Ichthyosis, Sparse hair, Erythrod... ORPHA:313
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate OMIM:618531
Keratosis, Focal Palmoplantar And Gingival
Circumungual hyperkeratosis, Subungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re... OMIM:148730
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Parakeratosis, Pruritus, Palmoplantar hyperkeratosis, Nail dystrophy, Erythema migrans, Skin vesicle ORPHA:158681
Ichthyosis, Congenital, Autosomal Recessive 5
Parakeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosifor... OMIM:604777
Hidrotic Ectodermal Dysplasia
Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p... ORPHA:189
Porokeratosis Of Mibelli
Pruritus, Hyperkeratosis, Porokeratosis ORPHA:735
Acute Generalized Exanthematous Pustulosis
Predominantly dermal neutrophilic infiltrate, Eosinophilia, Acantholysis, Pruritus, Pustule, Faci... ORPHA:293173
Pemphigus Vulgaris
Recurrent cutaneous abscess formation, Weight loss, Acantholysis ORPHA:704
Ichthyosis, Congenital, Autosomal Recessive 13
Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Ichthyosis OMIM:617574
Iga Pemphigus
Neutrophilic infiltration of the skin, Eosinophilia, Acantholysis, Pruritus, Pustule, Ulcerative ... ORPHA:555905
Peeling Skin Syndrome 6
Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin OMIM:618084
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Ridged nail, Abnormal fingernail morphology, Pruritus, Palmoplantar hyperkeratosis, Hyperkeratosi... ORPHA:89838
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Parakeratosis, Alopecia, Sparse eyelashes, Thick hair, Epidermal acanthosis, Pruritus, Sparse eye... OMIM:607626
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ... OMIM:613000
Infantile Digital Fibromatosis
Hyperkeratosis, Parakeratosis, Epidermal acanthosis ORPHA:199267
Parana Hard Skin Syndrome
Hyperkeratosis, Generalized hirsutism, Thickened skin ORPHA:2812
Psoriasis 14, Pustular
Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Cholangitis, Pustule, Erythema, Oli... OMIM:614204
Verrucous Hemangioma
Inflammatory abnormality of the skin, Hyperkeratotic papule, Epidermal acanthosis ORPHA:464318
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Epidermal acanthosis, Hypergranulosis, Palmoplantar hyperkeratosis OMIM:615598
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl... ORPHA:284426
Familial Benign Chronic Pemphigus
Skin vesicle, Hyperkeratosis, Erythema, Acantholysis ORPHA:2841
Familial Reactive Perforating Collagenosis
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Abnormal fingern... ORPHA:79147
Aquagenic Palmoplantar Keratoderma
Edema, Excessive skin wrinkling on dorsum of hands and fingers, Atopic dermatitis, Orthokeratotic... ORPHA:498359
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosi... OMIM:173200
Naxos Disease
Subungual hyperkeratosis, Curly hair, Epidermal acanthosis, Acantholysis, Sparse eyebrow, Diffuse... OMIM:601214
Hypotrichosis 6
Brittle hair, Sparse eyelashes, Pruritus, Sparse eyebrow, Erythema, Follicular hyperkeratosis, Sp... OMIM:607903
Ichthyosis Prematurity Syndrome
Epidermal acanthosis, Allergic rhinitis, Polyhydramnios, Pruritus, Generalized ichthyosis, Follic... OMIM:608649
Epidermolysis Bullosa, Lethal Acantholytic
Alopecia totalis, Acantholysis, Absent fingernail, Anonychia, Alopecia universalis OMIM:609638
Lethal Acantholytic Erosive Disorder
Absent eyebrow, Acantholysis, Absent eyelashes, Oligohydramnios, Absent toenail, Absent fingernai... ORPHA:158687
Ichthyosis, Congenital, Autosomal Recessive 10
Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General... OMIM:615024
Epidermolytic Hyperkeratosis 2
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... OMIM:620150
Porokeratosis 3, Multiple Types
Parakeratosis, Porokeratosis, Nail dystrophy OMIM:175900
Rothmund-Thomson Syndrome, Type 1
Absent eyebrow, Thin nail, Absent eyelashes, Hyperkeratosis, Sparse hair, Nail dystrophy, Recurre... OMIM:618625
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Pruritus, Alopecia, Plantar hyperkeratosis, Nail dystrophy OMIM:616487
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis, Epidermal acanthosis OMIM:615028
Pili Torti-Onychodysplasia Syndrome
Absent eyebrow, Alopecia, Brittle hair, Congenital onychodystrophy, Eczema, Absent eyelashes, Gen... ORPHA:2890
Schopf-Schulz-Passarge Syndrome
Ridged nail, Narrow nail, Thin nail, Poroma, Multiple eyelid margin cysts, Hyperkeratosis, Palmop... OMIM:224750
White Sponge Nevus 2
Hyperparakeratosis, Epidermal acanthosis, Edema OMIM:615785
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Eczema, Pruritus, Pustule, Thickened skin, Ichthyosis, Palmoplantar ker... ORPHA:2897
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Sparse eyelashes, Corneal dystrophy, Keratitis, Sparse eyebrow, Scarring alopecia of scalp, Facia... OMIM:308800
Palmoplantar Carcinoma, Multiple Self-Healing
Parakeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Nail dystrophy, Follicular hyperke... OMIM:615225
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis ORPHA:86923
Epidermolysis Bullosa Dystrophica, Pretibial
Pruritus, Hyperkeratosis, Nail dystrophy OMIM:131850
Darier-White Disease
Ridged nail, Acrokeratosis, Acantholysis, Pruritus, Subungual hyperkeratotic fragments OMIM:124200
Ichthyosis, Congenital, Autosomal Recessive 11
Curly hair, Brittle hair, Sparse eyelashes, Corneal opacity, Curly eyelashes, Pruritus, Sparse ey... OMIM:602400
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis, Acrokeratosis OMIM:101850
Hyperkeratosis, Thickened skin ORPHA:1659
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Diffuse palmoplantar hyperkeratosis, Onychogryposis of toenails, Alopecia of scalp, Spa... OMIM:617294
Lichen Planopilaris
Alopecia, Abnormal fingernail morphology, Pruritus, Hepatitis, Skin ulcer, Hyperkeratosis, Onycho... ORPHA:525
Palmoplantar Keratoderma-Deafness Syndrome
Hyperkeratosis, Palmoplantar keratoderma ORPHA:2202
Erythrokeratodermia Variabilis Et Progressiva 4
Epidermal acanthosis, Erythema, Palmoplantar hyperkeratosis, Hyperkeratosis, Congenital nonbullou... OMIM:617526
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Cataract, Abnormal eyelash morpholo... ORPHA:573
Ichthyosis, Congenital, Autosomal Recessive 14
Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin, Congenital nonbu... OMIM:617571
Acquired Ichthyosis
Recurrent skin infections, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyos... ORPHA:454
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Plantar hyperkeratosis, Brittle hair, Epidermal hyperkeratosis, Sparse eyebrow, Leukony... OMIM:104100
Vohwinkel Syndrome, Variant Form
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat... OMIM:604117
Trichothiodystrophy 1, Photosensitive
Brittle hair, Trichoschisis, Small for gestational age, Cataract, Short nose, Fine hair, Microcor... OMIM:601675
Moynahan Syndrome
Sparse hair, Hyperkeratosis, Alopecia, Cachexia ORPHA:2574
Ichthyosis Hystrix, Lambert Type
Hyperkeratosis, Orthokeratotic hyperkeratosis OMIM:146600
Erythrokeratodermia Variabilis Et Progressiva 1
Epidermal acanthosis, Hypergranulosis, Patchy palmoplantar hyperkeratosis, Erythroderma, Generali... OMIM:133200
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis OMIM:615327
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis ORPHA:1336
Epidermolytic Hyperkeratosis 1
Epidermal acanthosis, Erythroderma, Palmoplantar hyperkeratosis, Scaling skin, Congenital bullous... OMIM:113800
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Alopecia, Cataract, Sparse eyelashes, Keratitis, Sparse eyebrow, Scarring alopecia of scalp, Faci... OMIM:612843
Congenital Disorder Of Glycosylation, Type Iq
Cataract, Eczema, Dry skin, Cutis laxa, Hyperkeratosis, Coloboma, Ichthyosis, Microphthalmia, Fai... OMIM:612379
Sézary Syndrome
Alopecia, Edema, Pruritus, Palmoplantar keratoderma, Nail dystrophy, Erythroderma, Dry skin, Ectr... ORPHA:3162
Angioma Serpiginosum, X-Linked
Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair OMIM:300652
Pemphigus Erythematosus
Malar rash, Acantholysis ORPHA:79480
Porokeratosis 7, Multiple Types
Parakeratosis, Porokeratosis OMIM:614714
Porokeratosis 1, Multiple Types
Parakeratosis, Porokeratosis OMIM:175800
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis ORPHA:315
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Plantar hyperkeratosis, Pruritus, Hyperkeratosis, Nail dystrophy, Palmar hyperkeratosis ORPHA:79399
Ichthyosis, Congenital, Autosomal Recessive 9
Epidermal acanthosis, Hypergranulosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythr... OMIM:615023
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Congenital alopecia totalis, Epidermal acanthosis, Sparse eyebrow, Dry skin, Absent pubic hair, C... ORPHA:2269
Lipoid Proteinosis Of Urbach And Wiethe
Hyperkeratosis, Patchy alopecia, Reduced epidermal extracellular matrix protein 1 protein express... OMIM:247100
Warty Dyskeratoma
Abnormal fingernail morphology, Acrokeratosis, Epidermal thickening, Acantholysis ORPHA:69745
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Predominantly lower limb lymphedema, Edema, Lymphedema, Keratitis, Pruritus, Hyperparakeratosis, ... ORPHA:182
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Harlequin Ichthyosis
Cataract, Erythroderma, Dehydration, Hyperkeratosis, Congenital ichthyosiform erythroderma, Ichth... ORPHA:457
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Hyperkeratosis, Parakeratosis OMIM:618339
Chilblain Lupus
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Skin ulcer, Hyperkeratosis, ... ORPHA:90280
Intellectual Developmental Disorder, Fra12A Type
Hyperkeratosis, Erythroderma OMIM:136630
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Parakeratosis, Epidermal acanthosis, Xerostomia, Hyperkeratosis, Ichthyosis, Acanthosis nigricans... OMIM:618527
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Abnormal fingernail morphology, Corneal dystrophy, Sclerocornea, Skin ulcer, Fine hair,... ORPHA:1806
Ichthyosis, Congenital, Autosomal Recessive 7
Epidermal acanthosis, Hypergranulosis, Erythroderma, Palmoplantar keratoderma, Ichthyosis OMIM:615022
Ichthyosis, Congenital, Autosomal Recessive 2
Alopecia, Epidermal acanthosis, Thin nail, Hypergranulosis, Abnormal hair morphology, Erythema, H... OMIM:242100
Hypotrichosis And Recurrent Skin Vesicles
Sparse scalp hair, Sparse eyelashes, Angular cheilitis, Sparse axillary hair, Epidermal acanthosi... OMIM:613102
Toxic Epidermal Necrolysis
Entropion, Acantholysis, Corneal erosion, Erythema, Skin ulcer, Weight loss, Conjunctivitis, Panc... ORPHA:537
Non-Epidermolytic Palmoplantar Keratoderma
Pruritus, Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer ORPHA:2337
Flynn-Aird Syndrome
Hyperkeratosis, Alopecia, Alopecia of scalp, Cataract OMIM:136300
Atrophoderma Vermiculata
Pruritus, Abnormal epidermal morphology, Erythema, Follicular hyperkeratosis, Hyperkeratotic papule ORPHA:79100
Mal De Meleda
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Ep... ORPHA:87503
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Alopecia, Plantar hyperkeratosis, Nail dystrophy, Nail dysplasia, Palmar hyperkeratosis, Hyperker... ORPHA:79397
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Keratoconus, Alopecia, Ichthyosis, Palmoplantar keratoderma, Conjunctivitis, Erythroderma, Sparse... OMIM:242150
Clouston Syndrome
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Cataract, Sparse e... OMIM:129500
Noonan Syndrome 8
Curly hair, Epicanthus, Eczema, Polyhydramnios, Large for gestational age, Hyperkeratosis, Webbed... OMIM:615355
Keratosis Palmoplantaris Striata Ii
Palmoplantar keratoderma, Epidermal acanthosis OMIM:612908
Lichen Planus Pemphigoides
Pruritus, Hyperkeratosis, Conjunctivitis, Skin vesicle, Blepharitis, Abnormality of the nail ORPHA:254478
Stevens-Johnson Syndrome
Entropion, Acantholysis, Corneal erosion, Erythema, Weight loss, Conjunctivitis, Pancreatitis ORPHA:36426
Epidermolytic Palmoplantar Keratoderma
Abnormal fingernail morphology, Epidermal acanthosis, Hypergranulosis, Epidermal hyperkeratosis, ... ORPHA:2199
Alopecia Universalis Congenita
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis OMIM:203655
Elastosis Perforans Serpiginosa
Hyperkeratotic papule, Crusting erythematous dermatitis, Epidermal acanthosis, Cutis laxa ORPHA:79148
Hypotrichosis Simplex
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair ORPHA:55654
Congenital Disorder Of Glycosylation, Type If
Dry skin, Renal cortical cysts, Hyperkeratosis, Scaling skin, Erythroderma, Failure to thrive OMIM:609180
Alopecia, Brittle hair, Abnormality of hair texture, Perifollicular hyperkeratosis, Nail dystroph... OMIM:158000
Hypotrichosis 4
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair OMIM:146550
Tylosis With Esophageal Cancer
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis OMIM:148500
Kerion Celsi
Alopecia, Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent ... ORPHA:499
Trichothiodystrophy 7, Nonphotosensitive
Brittle hair, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkerat... OMIM:618546
Peeling Skin Syndrome 4
Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Nail dystrophy, Ich... OMIM:607936
Hyperkeratosis Lenticularis Perstans
Pruritus, Hyperkeratosis lenticularis perstans, Skin ulcer ORPHA:409
Recessive X-Linked Ichthyosis
Hyperkeratosis, Dry skin, Opacification of the corneal stroma, Ichthyosis ORPHA:461
Keratoderma Hereditarium Mutilans
Alopecia, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Ichthyosis, Abnormal toenail mor... ORPHA:494
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Sinusitis, Slow-growing hair, Eczema, Trichorrhexis nodosa, Xerostomia, D... ORPHA:238468
Netherton Syndrome
Sparse scalp hair, Sparse eyelashes, Skin rash, Eczema, Sparse eyebrow, Abnormal hair morphology,... ORPHA:634
Hypotrichosis 11
Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Absent axillary hair, Sparse hair,... OMIM:615059
Peeling Skin Syndrome 5
Hyperkeratosis, Epidermal acanthosis, Scaling skin OMIM:617115
X-Linked Dominant Chondrodysplasia Punctata
Cataract, Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Mi... ORPHA:35173
Leopard Syndrome 3
Curly hair, Epidermal hyperkeratosis, Low posterior hairline, Hyperkeratosis, Webbed neck, Palpeb... OMIM:613707
Congenital Disorder Of Glycosylation, Type Im
Inflammatory abnormality of the skin, Alopecia, Sparse eyelashes, Sparse eyebrow, Dry skin, Hyper... OMIM:610768
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke... OMIM:613736
Neonatal Lupus Erythematosus
Parakeratosis, Skin rash, Maculopapular exanthema, Hyperkeratosis, Malar rash ORPHA:398124
Dystrophic Epidermolysis Bullosa Pruriginosa
Pruritus, Hyperkeratosis, Abnormal toenail morphology, Nail dystrophy ORPHA:89843
Ectodermal Dysplasia-Syndactyly Syndrome 1
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... OMIM:613573
Hidrotic Ectodermal Dysplasia, Halal Type
Absent eyebrow, Sparse scalp hair, Abnormal fingernail morphology, Supernumerary nipple, Absent e... ORPHA:1809
Alopecia Universalis
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis ORPHA:701
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Perifolliculitis, Alopecia of scalp OMIM:260910
Erythrokeratodermia Variabilis Et Progressiva 3
Epidermal acanthosis, Hypergranulosis, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar kerato... OMIM:617525
Omenn Syndrome
Alopecia, Pneumonia, Eosinophilia, Edema, Pruritus, Thickened skin, Thyroiditis, Dry skin, Erythr... ORPHA:39041
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Microcornea, Comedonal acne, Iris coloboma, Follicular hyperkeratosis OMIM:615147
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Alopecia, Palmoplantar keratoderma, Fingernail dysplasia, Sparse hair, Onychogryposis of fingerna... ORPHA:2251
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Epidermal acanthosis, Hypergranulosis, Yellow nails, Palmoplantar hyperkeratosis, Orthokeratotic ... OMIM:148700
Sjögren-Larsson Syndrome
Corneal erosion, Erythema, Hyperkeratosis, Ichthyosis, Dry skin, Inflammatory abnormality of the eye ORPHA:816
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Symblepharon, Acant... ORPHA:95455
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Absent eyebrow, Epicanthus, Membranoproliferative glomerulonephritis, Sparse eyelashes, Palpebral... OMIM:137940
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Sparse scalp hair, Sparse eyelashes, Eczema, Slow-growing hair, Pruritus, Palmoplantar keratoderm... OMIM:618535
Proteus Syndrome
Epidermal acanthosis, Hyperkeratosis, Limbal dermoid, Downslanted palpebral fissures, Ptosis OMIM:176920
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Follicular hyperkeratosis, Bitot spots of the conjunctiva OMIM:277350
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Concave nail, Diffuse palmoplantar hyperkeratosis, Nonepidermolytic palmoplantar hyperkeratosis, ... ORPHA:530838
Darier Disease
Acrokeratosis, Pruritus, Abnormal hair morphology, Thickened skin, Palmoplantar keratoderma, Skin... ORPHA:218
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Cataract, Alopecia totalis, Lack of skin elasticity, Palmoplantar keratoderma, Nail dystrophy ORPHA:1366
Ramon Syndrome
Hyperkeratosis, Failure to thrive, Abnormal anterior chamber morphology, Generalized hirsutism ORPHA:3019
Ichthyosis Hystrix, Curth-Macklin Type
Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin OMIM:146590
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Recurrent bacterial skin infections, Sparse eyelashes, Trichiasis, Keratitis, Sparse eyebrow, Cor... OMIM:148210
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Subungual hyperkeratosis, Eczema, Trichorrhexis nodosa, Scarring alopecia of scalp, Hypoplastic s... OMIM:617337
Candidiasis, Familial, 1
Alopecia, Chronic mucocutaneous candidiasis OMIM:114580
Alopecia Areata 1
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis OMIM:104000
Prolidase Deficiency
Abnormal fingernail morphology, Pruritus, Crusting erythematous dermatitis, Low anterior hairline... ORPHA:742
Dowling-Degos Disease 4
Pruritus, Epidermal acanthosis, Hypergranulosis OMIM:615696
Alopecia Areata 2
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis OMIM:610753
Kid Syndrome
Angular cheilitis, Posterior blepharitis, Scarring alopecia of scalp, Recurrent cutaneous fungal ... ORPHA:477
Linear Verrucous Nevus Syndrome
Sparse scalp hair, Cataract, Hyperkeratosis, Abnormal cornea morphology, Iris coloboma, Aplasia/H... ORPHA:2611
Hypotrichosis With Juvenile Macular Degeneration
Sparse scalp hair, Brittle hair, Fine hair, Hyperkeratosis, Pili torti ORPHA:1573
Ichthyosis, Congenital, Autosomal Recessive 8
Epidermal acanthosis, Hypergranulosis, Erythema, Hyperkeratosis, Ichthyosis, Orthokeratosis OMIM:613943
Hereditary Mucoepithelial Dysplasia
Alopecia, Cataract, Corneal dystrophy, Fine hair, Hyperkeratosis, Sparse hair ORPHA:1839
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Sparse scalp hair, Abnormal eyelash morphology, Periodontitis, Sparse body hair, Alopecia univers... ORPHA:1008
Schöpf-Schulz-Passarge Syndrome
Sparse hair, Alopecia, Palmoplantar keratoderma, Aplasia/Hypoplasia of the eyebrow ORPHA:50944
Seborrhea-Like Dermatitis With Psoriasiform Elements
Hyperkeratosis, Epidermal acanthosis, Seborrheic dermatitis OMIM:610227
Ectodermal Dysplasia-Syndactyly Syndrome 2
Sparse hair, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ichthyosifor... OMIM:613576
Parc Syndrome
Absent eyelashes, Absent eyebrow, Alopecia OMIM:600331
Pachyonychia Congenita
Alopecia, Angular cheilitis, Paronychia, Onychogryposis of toenails, Linear arrays of macular hyp... ORPHA:2309
Idiopathic Trachyonychia
Ridged nail, Thin nail, Concave nail, Atopic dermatitis, Nail pits, Patchy alopecia, Nail dystrop... ORPHA:79153
Peeling Skin Syndrome 1
Brittle hair, Eosinophilia, Pruritus, Onycholysis, Nail dystrophy, Scaling skin, Erythroderma OMIM:270300
Oliver-Mcfarlane Syndrome
Alopecia, Central heterochromia, Small for gestational age, Long eyebrows, Long eyelashes, Sparse... OMIM:275400
Costello Syndrome
Deep-set nails, Keratoconus, Epicanthus, Failure to thrive in infancy, Redundant skin, Abnormal f... ORPHA:3071
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... ORPHA:3361
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Cataract, Hypopigmentation of hair, Corneal opacity, Aplasia/Hypoplasia of the iris, Pe... ORPHA:1067
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Epicanthus, Eczema, Epide... ORPHA:83617
Ichthyosis, Congenital, Autosomal Recessive 3
Erythema, Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythrode... OMIM:606545
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Microphthalmia, Corneal opacity, Large for gestational age ORPHA:2432
Odontoonychodermal Dysplasia
Ridged nail, Dry hair, Palmoplantar hyperkeratosis, Dystrophic fingernails, Thin nail, Sparse eye... OMIM:257980
Poikiloderma With Neutropenia
Plantar hyperkeratosis, Skin rash, Edema, Sparse eyebrow, Recurrent pneumonia, Nasolacrimal duct ... OMIM:604173
Focal Palmoplantar And Gingival Keratoderma
Subungual hyperkeratosis, Abnormal fingernail morphology, Focal friction-related palmoplantar hyp... ORPHA:2200
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Parakeratosis, Alopecia, Epidermal acanthosis, Erythema, Hyperkeratosis, Congenital ichthyosiform... OMIM:308050
Linear Atrophoderma Of Moulin
Pruritus, Scleroderma, Inflammatory abnormality of the skin ORPHA:140933
Incontinentia Pigmenti
Ridged nail, Uveitis, Coarse hair, Pallor, Sparse hair, Atrophic, patchy alopecia, Hypoplasia of ... OMIM:308300
Quinquaud Folliculitis Decalvans
Recurrent skin infections, Pustule, Scarring alopecia of scalp, Abnormal hair morphology, Erythem... ORPHA:346
Ectodermal Dysplasia/Skin Fragility Syndrome
Absent eyebrow, Absent eyelashes, Palmoplantar hyperkeratosis, Nail dystrophy, Scaling skin, Spar... OMIM:604536
Dermatitis, Atopic
Keratoconus, Cataract, Recurrent skin infections, Allergic rhinitis, Eczema, Pruritus, Atopic der... OMIM:603165
Lipoid Proteinosis
Acne, Pustule, Thickened skin, Hyperkeratosis, Alopecia of scalp ORPHA:530
Neuropathy, Hereditary Sensory, Type If
Hyperkeratosis, Osteomyelitis OMIM:615632
Lymphatic Malformation 4
Hyperkeratosis, Toenail dysplasia, Pedal edema, Lymphedema OMIM:615907
Gómez-López-Hernández Syndrome
Telecanthus, Alopecia of scalp, Toenail dysplasia, Corneal opacity ORPHA:1532
Mucoepithelial Dysplasia, Hereditary
Alopecia, Cataract, Pneumonia, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous candidias... OMIM:158310
Ectodermal Dysplasia 6, Hair/Nail Type
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail OMIM:614928
Ichthyosis, Annular Epidermolytic, 2
Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthok... OMIM:620148
Spinocerebellar Ataxia 34
Epidermal hyperkeratosis, Erythroderma OMIM:133190
Congenital Lethal Erythroderma
Congenital exfoliative erythroderma, Failure to thrive, Dry skin, Ichthyosis ORPHA:1954
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Ichthyosis follicularis, Atrichia, Scaling skin, Periungual erythema, Dystrophic fingernails, Sub... OMIM:308205
Chondrodysplasia Punctata 2, X-Linked Dominant
Cataract, Sparse eyelashes, Edema, Polyhydramnios, Sparse eyebrow, Congenital ichthyosiform eryth... OMIM:302960
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Conjunctival telangiectasia, Alopecia, Dry skin, Palmoplantar keratoderma, Nail dystrophy, Scalin... OMIM:618373
Meige Disease
Recurrent bacterial skin infections, Predominantly lower limb lymphedema, Recurrent skin infectio... ORPHA:90186
Cardiofaciocutaneous Syndrome 3
Hyperkeratosis, Failure to thrive, Curly hair, Webbed neck OMIM:615279
Milroy Disease
Epicanthus, Predominantly lower limb lymphedema, Lymphedema, Erysipelas, Pedal edema, Hyperkerato... ORPHA:79452
Dowling-Degos Disease
Abnormal fingernail morphology, Pruritus, Arthritis, Hyperkeratosis, Skin vesicle, Hyperkeratotic... ORPHA:79145
Autoinflammation With Arthritis And Dyskeratosis
Epidermal acanthosis, Hypereosinophilia, Thyroiditis, Uveitis, Palmoplantar hyperkeratosis, Dry s... OMIM:617388
Inflammatory Skin And Bowel Disease, Neonatal, 1
Perianal erythema, Pustule, Paronychia, Perioral erythema, Erythroderma, Failure to thrive, Bleph... OMIM:614328
Pseudoprogeria Syndrome
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Thin skin, Decreased body weight, Spa... ORPHA:2985
De Sanctis-Cacchione Syndrome
Parakeratosis, Entropion, Keratitis, Conjunctivitis, Ectropion OMIM:278800
Rhizomelic Chondrodysplasia Punctata
Alopecia, Epicanthus, Cataract, Ichthyosis, Dry skin, Sparse body hair ORPHA:177
Amelo-Onycho-Hypohidrotic Syndrome
Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Hyperkeratosis, Onycholysis, Dry... ORPHA:1028
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia, Coloboma, Orbital cyst, Microcornea OMIM:251505
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Failure to thrive in infancy, Recurrent pneumonia, Bronchiectasis, Corneal scarring, Hyperkeratos... OMIM:301220
Alopecia-Intellectual Disability Syndrome 4
Ichthyosis, Alopecia, Erythroderma OMIM:618840
Nicolaides-Baraitser Syndrome
Alopecia, Eczema, Curly eyelashes, Highly arched eyebrow, Abnormal hair pattern, Excessive wrinkl... ORPHA:3051
Ichthyosis Vulgaris
Absent keratohyalin granules, Eczematoid dermatitis, Dry skin, Ichthyosis OMIM:146700
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Sparse hair, Hyperkeratosis, Coarse hair, Brittle hair ORPHA:1883
Cole Disease
Epidermal acanthosis, Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palm... OMIM:615522
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Acrodermatitis Enteropathica
Ridged nail, Abnormal eyebrow morphology, Alopecia, Abnormal eyelid morphology, Pustule, Paronych... ORPHA:37
Alopecia-Intellectual Disability Syndrome 1
Alopecia, Alopecia universalis OMIM:203650
Epidermolysis Bullosa, Junctional 1A, Intermediate
Plantar hyperkeratosis, Patchy alopecia, Nail dystrophy, Fragile nails OMIM:226650
Chronic Mucocutaneous Candidiasis
Skin rash, Abnormal fingernail morphology, Pruritus, Erythema, Cheilitis, Hepatitis, Skin ulcer, ... ORPHA:1334
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Alopecia, Osteomyelitis, Recurrent skin infections, Eczema, Eosinophilia, Pruritus, Recurrent pne... OMIM:618282
Winchester Syndrome
Corneal opacity, Hirsutism OMIM:277950
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Erythema, Hyperkeratosis, Scaling skin, Congenital nonbullous ichthyosiform erythroderma, Ichthyo... OMIM:614457
Cardiofaciocutaneous Syndrome
Brittle hair, Redundant skin, Lymphedema, Sparse hair, Dystrophic fingernails, Abnormal eyelash m... ORPHA:1340
Arthrogryposis And Ectodermal Dysplasia
Absent eyebrow, Entropion, Trichiasis, Hyperkeratosis, Narrow palpebral fissure, Nuclear cataract... OMIM:601701
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Abnormal hair quantity, Osteomyelitis, Acne, Abnormal fingernail morphology, Abnormal hair patter... ORPHA:2796
Transgrediens Et Progrediens Palmoplantar Keratoderma
Recurrent bacterial skin infections, Plantar hyperkeratosis, Angular cheilitis, Hyperconvex nail,... ORPHA:495
Ectodermal Dysplasia/Short Stature Syndrome
Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Anonychia OMIM:616029
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Redundant skin, Seborrheic dermatitis, Erythema, Palmoplantar hyperkeratosis, Arthritis, Eczemato... OMIM:259100
Subacute Cutaneous Lupus Erythematosus
Psoriasiform lesion, Discoid lupus rash, Cheilitis, Hyperkeratosis, Malar rash ORPHA:163525
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Microcornea, Follicular hyperkeratosis ORPHA:300179
Warburg Micro Syndrome 1
Ptosis, Wide nasal bridge, Developmental cataract, Microcornea, Facial hypertrichosis, Microphtha... OMIM:600118
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Alopecia, Abnormal fingernail morphology, Thickened skin, Erythema, Skin ulcer, Palmoplantar kera... ORPHA:659
Syndromic Recessive X-Linked Ichthyosis
Hyperkeratosis, Corneal opacity, Ichthyosis ORPHA:281090
Incontinentia Pigmenti
Uveitis, Abnormal toenail morphology, Infectious encephalitis, Abnormality of the nail, Alopecia,... ORPHA:464
Hereditary Sensory And Autonomic Neuropathy Type 1
Hyperkeratosis, Osteomyelitis, Penetrating foot ulcers, Skin ulcer ORPHA:36386
Ectodermal Dysplasia 4, Hair/Nail Type
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... OMIM:602032
Rhizomelic Chondrodysplasia Punctata, Type 1
Alopecia, Developmental cataract, Upslanted palpebral fissure, Ichthyosis, Severe failure to thrive OMIM:215100
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Cataract, Skin ulcer, Hyperkeratosis, Interstitial pneumoni... ORPHA:454831
L-Ferritin Deficiency
Alopecia OMIM:615604
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Sparse hair, Alopecia, Long eyelashes, Small for gestational age ORPHA:3363
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Curly hair, Epicanthus, Sparse scalp hair, Eczema, Polyhydramnios, Large for gestational age, Web... OMIM:607721
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Alopecia, Cataract, Sparse eyelashes, Sparse eyebrow, Nail dysplasia, Erysipelas OMIM:615704
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Psoriasiform dermatitis, Failure to thrive in infancy, Eczema, Thyroiditis, Erythroderma, Patchy ... OMIM:606367
Irida Syndrome
Hyperkeratosis, Pallor, Ichthyosis ORPHA:209981
Microcephaly-Microcornea Syndrome, Seemanova Type
Epicanthus, Cataract, Upslanted palpebral fissure, Microcornea, Microphthalmia ORPHA:2528
Short Syndrome
Alopecia, Telecanthus, Corneal opacity, Posterior embryotoxon, Abnormal pupil morphology, Wide na... ORPHA:3163
Xeroderma Pigmentosum
Conjunctival telangiectasia, Alopecia, Entropion, Cataract, Keratitis, Thickened skin, Erythema, ... ORPHA:910
2Q24 Microdeletion Syndrome
Cataract, Small for gestational age, Abnormality iris morphology, Coloboma, Microphthalmia, Failu... ORPHA:1617
Acrokeratoelastoidosis Of Costa
Epidermal acanthosis, Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratosis, Hyperkeratoti... ORPHA:38
Pierpont Syndrome
Telecanthus, High anterior hairline, Microcornea, Narrow palpebral fissure, Decreased body weight... OMIM:602342
Alopecia-Intellectual Disability Syndrome
Sparse scalp hair, Alopecia, Ichthyosis, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:2850
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Ridged nail, Nail pits, Congenital alopecia totalis ORPHA:169095
Rapp-Hodgkin Syndrome
Absent lacrimal punctum, Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebro... OMIM:129400
Thumb Deformity And Alopecia
Alopecia OMIM:188150
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Ichthyosis, X-Linked
Congenital ichthyosiform erythroderma, Palmoplantar keratoderma, Opacification of the corneal str... OMIM:308100
Microphthalmia, Isolated, With Cataract 1
Microphthalmia, Cataract OMIM:156850
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Corneal opacity, Chorioretinal coloboma, Microphthalmia, Posterior embryotoxon, Iris co... ORPHA:1473
Pierpont Syndrome
Telecanthus, Small for gestational age, Microcornea, Narrow palpebral fissure, Microphthalmia, Hi... ORPHA:487825
Dermatopathia Pigmentosa Reticularis
Abnormal conjunctiva morphology, Alopecia of scalp, Nail dystrophy, Palmoplantar hyperkeratosis OMIM:125595
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Alopecia, Sinusitis, Osteomyelitis, Skin rash, Recurrent p... ORPHA:47
Basan Syndrome
Palmoplantar keratoderma, Epidermal acanthosis, Nail dystrophy OMIM:129200
Palmoplantar Keratoderma, Punctate Type Ia
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Epidermal acanthosis, Hypergranulosis OMIM:148600
Immunodeficiency 58
Recurrent cutaneous abscess formation, Psoriasiform lesion, Eczema, Allergic rhinitis, Seborrheic... OMIM:618131
Oculocutaneous Albinism Type 1A
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Thickened skin, Ocular albinism, Hyp... ORPHA:79431
Noonan Syndrome 10
Curly hair, Epicanthus, Prominent corneal nerve fibers, Sparse eyebrow, Increased nuchal transluc... OMIM:616564
Chronic Actinic Dermatitis
Late onset atopic dermatitis, Epidermal acanthosis, Eczema, Allergic rhinitis, Pruritus, Erythrod... ORPHA:330064
Bullous Dystrophy, Hereditary Macular Type
Alopecia totalis, Abnormality of the nail OMIM:302000
Cortisone Reductase Deficiency 1
Alopecia, Acne, Obesity, Hirsutism OMIM:604931
Pachyonychia Congenita 1
Nail dystrophy, Follicular hyperkeratosis, Palmoplantar hyperkeratosis, Onychogryposis OMIM:167200
Pachyonychia Congenita 2
Subungual hyperkeratosis, Sparse scalp hair, Dry hair, Angular cheilitis, Sparse eyebrow, Palmopl... OMIM:167210
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Corneal dystrophy, Band keratopathy OMIM:300779
Ectodermal Dysplasia-Skin Fragility Syndrome
Chapped lip, Recurrent skin infections, Pruritus, Recurrent pneumonia, Cheilitis, Palmoplantar ke... ORPHA:158668
Premature Aging Syndrome, Penttinen Type
Corneal opacity, Thickened skin, Palmoplantar hyperkeratosis, Corneal stromal edema, Hyperkeratos... OMIM:601812
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Alopecia, Highly arched eyebrow, Synophrys, Wide nasal bridge, Palmoplantar hyperkeratosis, Dystr... ORPHA:3253
Pseudopelade Of Brocq
Sparse scalp hair, Alopecia, Recurrent skin infections, Abnormal hair morphology, Cheilitis, Abno... ORPHA:129
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Alopecia, Upslanted palpebral fissure, Hyperkeratosis, Ichthyosis, Sparse hair, Abnormal toenail ... ORPHA:1005
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Porphyria Cutanea Tarda
Facial hypertrichosis, Scleroderma, Alopecia, Onycholysis OMIM:176100
Chilblain Lupus 1
Abnormality of the nail, Chilblains, Skin ulcer OMIM:610448
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Corneal opacity, Keratitis, Synophrys, Wide nasal bridge, Conjunctivitis, Long palpebral fissure,... OMIM:602562
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m... ORPHA:248
Prolidase Deficiency
Eczema, Recurrent pneumonia, Crusting erythematous dermatitis, Skin ulcer, Low posterior hairline... OMIM:170100
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Alopecia, Psoriasiform lesion, Eosinophilia, Erythroderma, Failure to thrive ORPHA:169154
Recurrent cutaneous abscess formation, Skin rash, Pruritus, Skin ulcer, Arthritis ORPHA:231
Oculomaxillofacial Dysostosis
Corneal opacity, Abnormal eyelid morphology, Abnormal eyelash morphology, Wide nasal bridge, Upsl... ORPHA:1794
Hereditary Acrokeratotic Poikiloderma
Eczema, Pustule, Erythema, Xerostomia, Palmoplantar hyperkeratosis, Keratoconjunctivitis, Skin ul... ORPHA:2907
Hemihyperplasia-Multiple Lipomatosis Syndrome
Hyperparakeratosis, Ovarian serous cystadenoma, Seborrheic dermatitis ORPHA:276280
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Alopecia, Recurrent skin infections, Recurrent pneumonia, Pyoderma gangrenosu... OMIM:616576
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Dry skin, Follicular hyperkeratosis OMIM:617066
Nasopalpebral Lipoma-Coloboma Syndrome
Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Sparse eyebrow, Widow's peak, Upper eye... OMIM:167730
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Ectopia lentis, Hypoplastic toenails... ORPHA:2325
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Anophthalmia, Edema, Abnormal eyelid morphology, Lymphedema, Scaling skin, Abnormal toenail morph... ORPHA:2526
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Recurrent loss of toenails and fingernails, Erythema, Crusting erythematous dermatitis, Palmoplan... ORPHA:158673
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sclerodactyly, Sparse eyebrow, ... ORPHA:1010
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Overweight, Dry skin, Follicular hyperkeratosis ORPHA:486815
Reactive Arthritis
Pericarditis, Osteomyelitis, Pustule, Enthesitis, Weight loss, Arthritis, Inflammation of the lar... ORPHA:29207
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation
Ichthyosis, Alopecia, Ectropion OMIM:242510
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Alopecia, Epicanthus, Brittle hair, Wide nasal bridge, Upslanted palpebral fissure, Failure to th... ORPHA:50812
Cronkhite-Canada Syndrome
Alopecia, Cataract, Abnormal fingernail morphology, Cachexia, Lymphedema, Hypoplastic toenails, D... ORPHA:2930
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Chronic furunculosis, Pyoderma gangrenosum, Cutaneous abscess OMIM:619986
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteomyelitis, Skin rash, Failure to thrive in infancy, Epidermal acanthosis, Pustule, Hyperkerat... OMIM:612852
Tyrosinemia Type 2
Hyperkeratosis, Palmoplantar keratoderma, Corneal opacity, Abnormality of the nail ORPHA:28378
Lymphatic Malformation 12
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Hyperkeratosis OMIM:620014
Oculocerebrocutaneous Syndrome
Alopecia, Anophthalmia, Orbital cyst, Eyelid coloboma, Microphthalmia OMIM:164180
Ridged nail, Congenital exfoliative erythroderma, Brittle hair, Microcornea, Conjunctivitis, Tige... ORPHA:33364
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Hyperkeratotic papule, Leukonychia, Palmoplantar keratoderma, Palmoplantar hyperkeratosis ORPHA:2698
Absent eyebrow, Alopecia, Loss of eyelashes, Penetrating foot ulcers, Uveitis, Paralytic lagophth... ORPHA:548
Sialidosis Type 1
Hyperkeratosis, Cataract, Corneal opacity, Wide nasal bridge ORPHA:812
Trichothiodystrophy 4, Nonphotosensitive
Epicanthus, Brittle hair, Sparse eyelashes, Abnormality of hair texture, Concave nail, Microcorne... OMIM:234050
Chime Syndrome
Epicanthus, Corneal opacity, Erythema, Skin ulcer, Fine hair, Upslanted palpebral fissure, Hyperk... ORPHA:3474
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Macs Syndrome
Epicanthus, Alopecia, Palpebral edema, Redundant skin, Sparse eyebrow, Bronchiectasis, Wide nasal... OMIM:613075
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Abnormal fingernail morphology, Pruritus, Gastrointestinal inflammation, Anonychia, Palmoplantar ... ORPHA:79410
Diffuse Cutaneous Mastocytosis
Pruritus, Thickened skin, Scaling skin, Erythroderma, Peau d'orange ORPHA:79456
Trichothiodystrophy 3, Photosensitive
Brittle hair, Cataract, Developmental cataract, Congenital ichthyosiform erythroderma, Congenital... OMIM:616395
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Epicanthus, Cataract, Corneal opacity, Lymphedema, Myopic astigmatism, Upslanted palpebral fissur... OMIM:152950
Familial Keratoacanthoma
Hyperkeratosis, Skin ulcer ORPHA:493
Congenital Disorder Of Glycosylation, Type Iil
Epicanthus, Dry skin, Hyperkeratosis, Inflammation of the large intestine, Peau d'orange, Failure... OMIM:614576
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormal eyelid morphology, Uveitis, Hyperconvex fingernails, Conjunctivitis, Sparse hair, Abnorm... ORPHA:2273
Proliferating Trichilemmal Cyst
Sparse scalp hair, Skin ulcer ORPHA:492
Pili Torti
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... ORPHA:2889
Nasopalpebral Lipoma-Coloboma Syndrome
Lipomas of eyelids, Telecanthus, Cataract, Corneal opacity, Abnormal eyelash morphology, Sparse e... ORPHA:2399
Inflammatory Skin And Bowel Disease, Neonatal, 2
Epidermal acanthosis, Polyhydramnios, Pustule, Recurrent pneumonia, Dehydration, Long eyelashes, ... OMIM:616069
Drug Reaction With Eosinophilia And Systemic Symptoms
Skin rash, Eosinophilia, Pustule, Myocarditis, Angioedema, Erythema, Hepatitis, Thyroiditis, Weig... ORPHA:139402
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Glomerulonephritis, Eczema, Eosinophilia, Hepatitis, Arthritis, Erythroderma, Failure t... OMIM:304790
Monosomy 18P
Alopecia, Epicanthus, Lymphedema, Wide nasal bridge, Low posterior hairline, Webbed neck, Microph... ORPHA:1598
Renpenning Syndrome
Abnormal hairshaft morphology, Alopecia, Epicanthus, Cataract, Cachexia, Upslanted palpebral fiss... ORPHA:3242
Hypomelanosis Of Ito
Alopecia, Epicanthus, Cataract, Iris coloboma OMIM:300337
Crandall Syndrome
Alopecia, Brittle hair, Fine hair, Sparse body hair, Pili torti, Aplasia/Hypoplasia of the eyebrow ORPHA:202
Reticular Dysgenesis
Skin rash, Skin ulcer, Weight loss, Dehydration, Chronic otitis media, Failure to thrive ORPHA:33355
Idiopathic Localized Lipodystrophy
Inflammatory abnormality of the skin, Pruritus, Erythema, Scaling skin, Scleroderma, Morphea ORPHA:90158
Donohue Syndrome
Acanthosis nigricans, Hyperkeratosis, Ovarian cyst, Nail dysplasia, Severe failure to thrive, Hyp... OMIM:246200
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hyperkeratosis, Lymphedema ORPHA:79279
Bartsocas-Papas Syndrome
Corneal opacity, Alopecia totalis, Hypoplastic toenails, Ankyloblepharon, Popliteal pterygium, Sp... ORPHA:1234
Cardiofaciocutaneous Syndrome 1
Absent eyebrow, Epicanthus, Curly hair, Slow-growing hair, Polyhydramnios, Absent eyelashes, Atop... OMIM:115150
Centrifugal Lipodystrophy
Alopecia, Inflammatory abnormality of the skin, Lymphadenitis, Erythema, Scaling skin ORPHA:90156
Corneal opacity ORPHA:351
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Lacrimal duct atresia... OMIM:106260
Dermatofibrosarcoma Protuberans
Thickened skin, Erythema, Skin ulcer ORPHA:31112
Fibrodysplasia Ossificans Progressiva
Alopecia, Failure to thrive ORPHA:337
Werner Syndrome
Sparse scalp hair, Cataract, Abnormal hair whorl, Lack of skin elasticity, Skin ulcer, Premature ... ORPHA:902
Mednik Syndrome
Hyperkeratosis, Ichthyosis ORPHA:171851
Omenn Syndrome
Alopecia, Eosinophilia, Pneumonia, Thickened skin, Erythroderma, Failure to thrive OMIM:603554
Adult Syndrome
Sparse scalp hair, Alopecia, Absent nipple, Nasolacrimal duct obstruction, Wide nasal bridge, Fin... ORPHA:978
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Dermoids Of Cornea
Corneal opacity OMIM:304730
Nanophthalmos 2
Microphthalmia OMIM:609549
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Mucolipidosis Type Iii
Acne, Corneal opacity ORPHA:577
Adams-Oliver Syndrome 2
Alopecia, Low anterior hairline, Developmental cataract, Narrow palpebral fissure, Small nail, Mi... OMIM:614219
Bone Marrow Failure Syndrome 3
Epicanthus, Eczema, Hyperkeratosis, Astigmatism, Nail dystrophy, Small nail, Sparse hair, Failure... OMIM:617052
Marie Unna Hereditary Hypotrichosis
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... ORPHA:444
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia, Hyperkeratosis, Short nose ORPHA:163966
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Skin ulcer, Arthritis, Ot... ORPHA:229717
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hyperkeratosis OMIM:145250
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Ridged nail, Alopecia, Nail dystrophy, Nail pits OMIM:601705
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma OMIM:604219
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Frontofacionasal Dysplasia
Telecanthus, Cataract, Blepharophimosis, Brushfield spots, Upper eyelid coloboma, Microcornea, Li... ORPHA:1791
Failure to thrive, Generalized hyperkeratosis, Abnormality of the nail, Corneal opacity ORPHA:349
Microphthalmia, Syndromic 8
Microcornea, Blepharophimosis, Microphthalmia, Premature skin wrinkling, Short palpebral fissure OMIM:601349
Microphthalmia, Syndromic 13
Microcornea, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Ptosis OMIM:300915
Gombo Syndrome
Microphthalmia OMIM:233270
Eec Syndrome
Entropion, Slow-growing hair, Keratitis, Sparse eyebrow, Corneal erosion, Xerostomia, Nail pits, ... ORPHA:1896
Developmental Delay With Variable Neurologic And Brain Abnormalities
Cataract, Upslanted palpebral fissure, Astigmatism, Long palpebral fissure, Microphthalmia, Spars... OMIM:619694
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Dystrophic fingernails, Dystrophic toenail ORPHA:1882
Singleton-Merten Syndrome 2
Hyperkeratosis, Psoriasiform lesion OMIM:616298
Excessive wrinkled skin, Thin skin, Skin ulcer, Fine hair ORPHA:2500
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Cataract 21, Multiple Types
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Macular hypoplasi... OMIM:610202
Noonan Syndrome 2
Curly hair, Epicanthus, Polyhydramnios, Sparse eyebrow, Increased nuchal translucency, Low poster... OMIM:605275
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Kindler Epidermolysis Bullosa
Recurrent skin infections, Corneal opacity, Erythema, Cheilitis, Hyperkeratosis, Inflammation of ... ORPHA:2908
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Alopecia, Recurrent skin infections, Corneal opacity, Erythema, Palmoplantar keratoderma, Nail dy... ORPHA:79396
Baraitser-Winter Syndrome 2
Telecanthus, Highly arched eyebrow, Coloboma, Webbed neck, Long palpebral fissure, Microphthalmia... OMIM:614583
Pachyonychia Congenita 3
Chapped lip, Plantar hyperkeratosis, Onychogryposis of toenails, Palmoplantar keratoderma, Nail d... OMIM:615726
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Absent eyebrow, Alopecia, Sparse scalp hair, Palpebral edema, Predominantly lower limb lymphedema... OMIM:607823
Autosomal Dominant Hyper-Ige Syndrome
Osteomyelitis, Skin rash, Eczema, Eosinophilia, Pruritus, Abnormal hair morphology, Paronychia, W... ORPHA:2314
Flynn-Aird Syndrome
Alopecia, Cataract, Skin ulcer, Cachexia ORPHA:2047
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Absent eyebrow, Alopecia, Sparse scalp hair, Palpebral edema, Predominantly lower limb lymphedema... ORPHA:69735
Atopic Keratoconjunctivitis
Corneal opacity, Abnormal eyelid morphology, Keratitis, Loss of eyelashes, Keratoconjunctivitis s... ORPHA:163934
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Alopecia, Telecanthus OMIM:203550
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Short nose, Corneal opacity ORPHA:2370
Hypotrichosis 5
Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs... OMIM:612841
Holocarboxylase Synthetase Deficiency
Alopecia, Eczema, Weight loss, Keratoconjunctivitis, Perioral eczema ORPHA:79242
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity, Low anterior hairline, Coloboma, Microphthalmia OMIM:613153
Chanarin-Dorfman Syndrome
Alopecia, Subcapsular cataract, Congenital nonbullous ichthyosiform erythroderma, Ectropion OMIM:275630
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Pneumonia, Eosinophilia, Recurrent pneumonia, Hepatitis, Otitis media, ... ORPHA:169160
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia, Ankyloblepharon ORPHA:85275
Copper Deficiency, Familial Benign
Curly hair, Failure to thrive, Early balding, Seborrheic dermatitis OMIM:121270
Acral Peeling Skin Syndrome
Eczema, Erythema, Scaling skin, Ichthyosis, Excessive wrinkling of palmar skin ORPHA:263534
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Eczema, Lymphadenitis, Inflammation of the large intestine, Nail dystrophy, Thin skin, Erythroder... OMIM:615895
Rothmund-Thomson Syndrome
Plantar hyperkeratosis, Porokeratosis, Skin rash, Sparse eyelashes, Alopecia totalis, Small for g... ORPHA:2909
Systemic Lupus Erythematosus 17
Alopecia, Malar rash, Optic neuritis, Myelitis OMIM:301080
Cerebrooculofacioskeletal Syndrome 1
Cataract, Small for gestational age, Recurrent pneumonia, Dehydration, Blepharophimosis, Micropht... OMIM:214150
Papillon-Lefèvre Syndrome
Recurrent cutaneous abscess formation, Severe periodontitis, Recurrent skin infections, Abnormal ... ORPHA:678
Hereditary Bullous Dystrophy, Macular Type
Alopecia, Cataract, Congenital abnormal hair pattern, Pneumonia, Corneal opacity, Nail dystrophy,... ORPHA:1867
Bresek Syndrome
Alopecia, Optic nerve hypoplasia, Ichthyosis, Microphthalmia, Iris coloboma ORPHA:85284
Foveal Hypoplasia 2
Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Microphthalmia, Posterior embryotoxon OMIM:609218
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Cataract, Thickened skin, Ocular albinism, Weight loss, Hyperkeratosis,... ORPHA:79430
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Chorioretinal coloboma, Microphthalmia, Microcoria, Iris coloboma OMIM:616428
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Cataract 11, Multiple Types
Microphthalmia, Cataract, Developmental cataract OMIM:610623
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Telecanthus, Redundant neck skin, Small for gestational age, Optic nerve hypoplasia, Polyhydramni... OMIM:301056
Chondrodysplasia Punctata, Autosomal Dominant
Sparse hair, Hyperkeratosis with erythema, Coarse hair, Cataract OMIM:118650
Reynolds Syndrome
Skin rash, Pruritus, Xerostomia, Skin ulcer, Arthritis, Keratoconjunctivitis sicca, Ascites, Infe... ORPHA:779
Erythroderma, Lethal Congenital
Congenital exfoliative erythroderma, Failure to thrive OMIM:227090
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Alopecia, Telecanthus, Fine hair, Upslanted palpebral fissure, Microphthalmia, Oligohydramnios ORPHA:228390
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microcornea, Microphthalmia, Cataract, Long eyelashes ORPHA:48431
Frontonasal Dysplasia 1
Epicanthus, Cataract, Widow's peak, Wide nasal bridge, Coloboma, Microphthalmia, Ptosis OMIM:136760
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... ORPHA:98964
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia, Cataract, Small for gestational age OMIM:278780
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia, Edema OMIM:616570
Gaucher Disease, Perinatal Lethal
Nonimmune hydrops fetalis, Polyhydramnios, Hyperkeratosis, Ichthyosis, Congenital nonbullous icht... OMIM:608013
Baraitser-Winter Syndrome 1
Epicanthus, Highly arched eyebrow, Wide nasal bridge, Low posterior hairline, Chorioretinal colob... OMIM:243310
Fanconi Anemia, Complementation Group S
Epicanthus, Low anterior hairline, Upslanted palpebral fissure, Long eyelashes, Sparse hair, Blep... OMIM:617883
Juvenile Hyaline Fibromatosis
Abnormal hair morphology, Skin ulcer ORPHA:2028
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... OMIM:614929
Bartsocas-Papas Syndrome 2
Corneal opacity, Antecubital pterygium, Ankyloblepharon, Popliteal pterygium, Microphthalmia, Axi... OMIM:619339
Mixed Connective Tissue Disease
Myositis, Pericarditis, Skin rash, Gastritis, Alopecia, Myocarditis, Xerostomia, Arthritis, Kerat... ORPHA:809
Congenital Rubella Syndrome
Cataract, Skin rash, Corneal opacity, Aplasia/Hypoplasia of the iris, Microphthalmia ORPHA:290
Harel-Yoon Syndrome
Upslanted palpebral fissure, Short nose, Corneal opacity, Developmental cataract OMIM:617183
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Coloboma, Failure to thrive OMIM:274270
Sandestig-Stefanova Syndrome
Epicanthus, Laterally extended eyebrow, Small for gestational age, Highly arched eyebrow, Wide na... OMIM:618804
Dyskeratosis Congenita
Abnormal eyebrow morphology, Alopecia, Cataract, Abnormal fingernail morphology, Abnormal eyelash... ORPHA:1775
Corneal Dystrophy, Reis-Bucklers Type
Palpebral edema, Corneal dystrophy, Corneal opacity, Corneal erosion, Opacification of the cornea... OMIM:608470
Punctate Palmoplantar Keratoderma Type 1
Epidermal acanthosis, Hypergranulosis, Abnormal epidermal morphology, Palmoplantar hyperkeratosis... ORPHA:79501
8Q21.11 Microdeletion Syndrome
Epicanthus, Cataract, Iris hypopigmentation, Eczema, Sclerocornea, Corneal opacity, Blepharophimo... ORPHA:284160
Huriez Syndrome
Congenital palmoplantar hyperkeratosis, Epidermal acanthosis, Nail dystrophy, Small nail OMIM:181600
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Alopecia, Epicanthus, Iris coloboma ORPHA:88630
Kury-Isidor Syndrome
Ptosis, Alopecia, Astigmatism, Recurrent otitis media, Downslanted palpebral fissures, Hypertrich... OMIM:619762
Monosomy 22
Epicanthus, Seborrheic dermatitis, Thickened skin, Synophrys, Narrow palpebral fissure, Joint swe... ORPHA:96123
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Epicanthus, Supernumerary nipple, Sparse eyebrow, Synophrys, Wide nasal bridge, Upslanted palpebr... OMIM:620098
Mucolipidosis Type Iv
Palmoplantar keratoderma, Corneal opacity ORPHA:578
Ramon Syndrome
Hyperkeratosis, Axenfeld anomaly, Decreased body weight, Juvenile rheumatoid arthritis, Hypertric... OMIM:266270
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal acanthosis OMIM:615735
Oculodentodigital Dysplasia, Autosomal Recessive
Telecanthus, Epicanthus, Sparse eyelashes, Cataract, Long nose, Fine hair, Microcornea, Persisten... OMIM:257850
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Anisocoria, Hyperkeratosis, High anterior hairline, Ptosis OMIM:615510
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Epicanthus, Cataract, Sparse hair, Microphthalmia, Short nose, Downslanted palpebral fissures OMIM:614105
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Buphthalmos, Microcornea, Anterior synechiae of the ante... OMIM:269400
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Coloboma, Peters anomaly, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma OMIM:610023
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microcornea, Microphthalmia, Cataract OMIM:616171
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Pneumonia, Atopic dermatitis, Skin ulcer, Recurrent sinusiti... ORPHA:217390
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:611638
Rothmund-Thomson Syndrome Type 2
Plantar hyperkeratosis, Porokeratosis, Small for gestational age, Alopecia totalis, Long nose, Fa... ORPHA:221016
Autosomal Recessive Cutis Laxa Type 2A
Corneal opacity, Thick hair, Excessive wrinkled skin, Abnormal cornea morphology, Downslanted pal... ORPHA:357058
Familial Hemophagocytic Lymphohistiocytosis
Skin rash, Maculopapular exanthema, Colitis, Erythroderma, Ecchymosis, Infectious encephalitis, P... ORPHA:540
Deafness, X-Linked 7
Telecanthus, Unilateral microphthalmos, Wide nasal bridge, Thick eyebrow, Ptosis OMIM:301018
Bartsocas-Papas Syndrome 1
Cicatricial lagophthalmos, Ankyloblepharon, Pterygium, Absent eyebrow, Alopecia, Absent eyelashes... OMIM:263650
Cofs Syndrome
Microphthalmia, Cataract, Wide nasal bridge ORPHA:1466
Multiple Benign Circumferential Skin Creases On Limbs
Epicanthus, Edema, Thickened skin, Microcornea, Microphthalmia, Generalized hirsutism ORPHA:2505
Rothmund-Thomson Syndrome, Type 2
Absent eyebrow, Epicanthus, Alopecia, Sparse eyelashes, Sparse scalp hair, Small for gestational ... OMIM:268400
Papa Syndrome
Increased inflammatory response, Myositis, Acne, Pustule, Skin ulcer, Arthritis, Crohn's disease ORPHA:69126
Warburg-Cinotti Syndrome
Epicanthus, Symblepharon, Erythema, Narrow palpebral fissure, Joint swelling, Thin skin, Follicul... OMIM:618175
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia, Cataract, Iris coloboma OMIM:610092
Biotinidase Deficiency
Alopecia, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Conjunctivitis OMIM:253260
Spondylo-Ocular Syndrome
Abnormal eyebrow morphology, Aplasia/Hypoplasia of the lens, Cataract, Low posterior hairline, We... ORPHA:85194
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Ptosis, Alopecia, Hyperconvex fingernails, Skin vesicle, Hypoplastic fingernail ORPHA:257
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Cataract, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus m... ORPHA:2334
Generalized Pustular Psoriasis
Pustule, Overweight, Cheilitis, Uveitis, Obesity, Pedal edema, Arthritis, Palmoplantar pustulosis... ORPHA:247353
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia, Short nose, Nail dystrophy, Highly arched eyebrow OMIM:300887
Gomez-Lopez-Hernandez Syndrome
Opacification of the corneal stroma, Alopecia, Downslanted palpebral fissures, Short nose OMIM:601853
Cat-Eye Syndrome
Microphthalmia, Downslanted palpebral fissures, Iris coloboma, Chorioretinal coloboma ORPHA:195
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia, Cataract, Iris coloboma, Chorioretinal coloboma OMIM:120433
Rothmund-Thomson Syndrome Type 1
Plantar hyperkeratosis, Porokeratosis, Small for gestational age, Alopecia totalis, Facial edema,... ORPHA:221008
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... ORPHA:98960
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome