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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
Cat-Eye Syndrome	Microphthalmia, Iris coloboma, Chorioretinal coloboma, Downslanted palpebral fissures	ORPHA:195
Rothmund-Thomson Syndrome Type 2	Facial edema, Erythema, Porokeratosis, Alopecia totalis, Sparse or absent eyelashes, Juvenile cat...	ORPHA:221016
Kanzaki Disease	Lymphedema, Tortuosity of conjunctival vessels, Dry skin, Petechiae, Hyperkeratosis	OMIM:609242
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Iris coloboma, Chorioretinal coloboma, Microphthalmia	OMIM:120433
Multiple Sulfatase Deficiency	Cataract, Coarse hair, Thick eyebrow, Ichthyosis, Corneal opacity	ORPHA:585
Morquio Syndrome C	Corneal opacity	OMIM:252300
Thiel-Behnke Corneal Dystrophy	Opacification of the corneal stroma, Astigmatism, Subepithelial corneal opacities, Recurrent corn...	ORPHA:98960
H Syndrome	Alopecia, Hypertrichosis, Abnormal eyebrow morphology, Upper eyelid edema, Psoriasiform dermatiti...	ORPHA:168569
Microphthalmia/Coloboma 7	Inferior chorioretinal coloboma, Iris coloboma, Microphthalmia	OMIM:614497
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Alopecia, Sparse eyebrow, Small nail, Downslanted palpebral fissures, Bilateral ptosis, Large for...	ORPHA:544488
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Dacryocystitis, Sparse pubic hair, Sparse eyebrow, Blepharitis, Fair hair, Xerostomia, Telecanthu...	OMIM:129900
Hurler-Scheie Syndrome	Generalized hirsutism, Rhinitis, Corneal opacity	ORPHA:93476
Congenital Sialidosis Type 2	Cataract, Edema, Ascites, Petechiae, Hypoplasia of the fovea, Developmental cataract, Corneal opa...	ORPHA:93400
Immunodeficiency 85 And Autoimmunity	Failure to thrive in infancy, Oligoarthritis, Erythroderma, Eczematoid dermatitis	OMIM:619510
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Short palpebral fissure, Small nail, Failure to thrive, Thin eyebrow, Telecanthus, Oligohydramnio...	ORPHA:364577
Free Sialic Acid Storage Disease	Iris hypopigmentation, Skin ulcer, Failure to thrive in infancy, Ascites, Hydrops fetalis	ORPHA:834
Bullous Diffuse Cutaneous Mastocytosis	Pruritus, Erythroderma	ORPHA:280785
Warburg Micro Syndrome 3	Cataract, Microcornea, Hypertrichosis, Low anterior hairline, Blepharophimosis, Developmental cat...	OMIM:614222
Hemifacial Atrophy, Progressive	Horner syndrome, Patchy alopecia, Poliosis, Blepharophimosis	OMIM:141300
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hydrops fetalis, Developmental cataract, Corneal opacity	OMIM:618815
Juvenile Dermatomyositis	Erythema, Alopecia, Skin ulcer, Dry skin, Skin rash, Myositis, Weight loss, Arthritis, Palpebral ...	ORPHA:93672
Cerebrooculofacioskeletal Syndrome 2	Cataract, Developmental cataract, Microphthalmia, Sparse hair, Small for gestational age	OMIM:610756
Sialidosis Type 2	Ascites, Hydrops fetalis, Pedal edema, Corneal opacity	ORPHA:87876
Rothmund-Thomson Syndrome Type 1	Facial edema, Porokeratosis, Alopecia totalis, Sparse or absent eyelashes, Juvenile cataract, Nai...	ORPHA:221008
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	Thickened skin, Ptosis, Acne, Seborrheic dermatitis	OMIM:167100
Hatipoglu Immunodeficiency Syndrome	Thickened skin, Atopic dermatitis, Fair hair, Failure to thrive, Premature graying of hair, Downs...	OMIM:620331
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Cataract, Upslanted palpebral fissure, Corneal opacity, Short nose, Optic nerve hypoplasia	ORPHA:496790
Refsum Disease	Cataract, Dry skin, Ichthyosis, Nail dysplasia, Ptosis, Microphthalmia	ORPHA:773
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Foot osteomyelitis, Acral ulceration, Skin ulcer	ORPHA:139578
Cornea Plana 2, Autosomal Recessive	Microphthalmia, Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thic...	OMIM:217300
Lymphedema-Distichiasis Syndrome	Webbed neck, Yellow nails, Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Nonimmun...	OMIM:153400
Joubert Syndrome 37	Wide nasal bridge, Obesity, Ptosis, Microphthalmia, Sparse hair	OMIM:619185
Alpha-Heavy Chain Disease	Ascites, Alopecia	ORPHA:100025
Oculocerebral Hypopigmentation Syndrome, Cross Type	Iris hypopigmentation, Cataract, Ocular albinism, Short nose, Corneal opacity, Ectropion, Hypopig...	ORPHA:2719
Ablepharon Macrostomia Syndrome	Fine hair, Breast hypoplasia, Dry skin, Cryptophthalmos, Redundant skin, Excessive wrinkled skin,...	ORPHA:920
Frontonasal Dysplasia 2	Wide nasal bridge, Sparse eyebrow, Short palpebral fissure, Fine hair, Alopecia totalis, Telecant...	OMIM:613451
Frontonasal Dysplasia 3	Wide nasal bridge, Sparse eyelashes, Upper eyelid coloboma, Absent eyebrow, Microphthalmia	OMIM:613456
Mycetoma	Osteomyelitis, Cobblestone-like hyperkeratosis, Recurrent bacterial skin infections	ORPHA:2583
Johnson Neuroectodermal Syndrome	Alopecia, Failure to thrive, Downslanted palpebral fissures, Absent eyelashes, Absent eyebrow, Sp...	ORPHA:2316
Anterior Segment Dysgenesis 2	Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Mic...	OMIM:610256
Microphthalmia, Isolated 2	Opacification of the corneal stroma, Microphthalmia	OMIM:610093
Rodrigues Blindness	Microcornea, Fine hair, Microphthalmia, Sclerocornea, Sparse hair	OMIM:268320
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Alopecia, Small nail, Downslanted palpebral fissures, Ichthyosis, Absent eyelashes, Renal cyst, A...	ORPHA:166035
Dermatoosteolysis, Kirghizian Type	Keratitis, Dystrophic toenail, Skin ulcer, Dystrophic fingernails, Osteoarthritis, Abnormality of...	ORPHA:1657
Bleeding Disorder, Platelet-Type, 21	Alopecia, Psoriasiform dermatitis, Eczematoid dermatitis	OMIM:617443
De Barsy Syndrome	Cataract, Failure to thrive, Downslanted palpebral fissures, Excessive wrinkled skin, Epicanthus,...	ORPHA:2962
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay	Long palpebral fissure, Highly arched eyebrow, Ptosis, Corneal opacity	OMIM:620469
Keratoendotheliitis Fugax Hereditaria	Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis	OMIM:148200
Necrobiosis Lipoidica	Erythema, Inflammatory abnormality of the skin, Skin ulcer	ORPHA:542592
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Arthritis, Pyoderma gangrenosum, Colitis, Sterile arthritis, Cystic acne, Acne	OMIM:604416
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Failure to thrive, Eczematoid dermatitis, Downslanted palpebral fissures, Obesity, Thick eyebrow,...	ORPHA:369950
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Sparse pubic hair, Sparse eyebrow, Blepharitis, Fair hair, Xerostomia, Facial hirsutism, Nail dys...	OMIM:604292
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Palmoplantar keratoderma, Small nail, Nail dystrophy, Orthokeratotic hyperkeratosis, Sclerodactyly	OMIM:610644
Adams-Oliver Syndrome 4	Toenail dysplasia, Hypoplastic toenails, Microphthalmia	OMIM:615297
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Oculocerebrocutaneous Syndrome	Alopecia, Abnormal fingernail morphology, Eyelid coloboma, Ptosis, Corneal opacity, Iris coloboma	ORPHA:1647
Temtamy Syndrome	Telecanthus, Iris coloboma, Chorioretinal coloboma, Microphthalmia	ORPHA:1777
Blepharophimosis, Ptosis, And Epicanthus Inversus	Wide nasal bridge, Highly arched eyebrow, Sparse pubic hair, Microcornea, Telecanthus, Ptosis, Bl...	OMIM:110100
Temtamy Syndrome	Highly arched eyebrow, Ectopia lentis, Chorioretinal coloboma, Downslanted palpebral fissures, Mi...	OMIM:218340
Rere-Related Neurodevelopmental Syndrome	Peters anomaly, Chorioretinal coloboma, Astigmatism, Broad eyebrow, Epicanthus, Ptosis, Blepharop...	ORPHA:494344
Nanophthalmos	Microphthalmia	ORPHA:35612
Neurooculocardiogenitourinary Syndrome	Peters anomaly, Redundant neck skin, Epicanthus, Coloboma, Microphthalmia	OMIM:618652
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Microphthalmia, Isolated 6	Microcornea, Microphthalmia	OMIM:613517
Autoimmune Polyendocrinopathy Type 1	Cataract, Alopecia, Chronic mucocutaneous candidiasis, Abnormal fingernail morphology, Opacificat...	ORPHA:3453
Ullrich Congenital Muscular Dystrophy 1A	Slender build, Follicular hyperkeratosis, Failure to thrive	OMIM:254090
Microphthalmia, Isolated 5	Microphthalmia, Cataract, Cystoid macular edema	OMIM:611040
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Unilateral microphthalmos, Hirsutism, Coloboma, Unilateral ptosis	OMIM:619318
Microphthalmia, Syndromic 16	Sclerocornea, Ankyloblepharon, Anophthalmia, Microphthalmia	OMIM:611038
Zellweger Syndrome	Wide nasal bridge, Cataract, Multicystic kidney dysplasia, Failure to thrive, Upslanted palpebral...	ORPHA:912
Gm1 Gangliosidosis	Thickened skin, Failure to thrive, Aspiration pneumonia, Hirsutism, Generalized hirsutism, Infect...	ORPHA:354
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Alopecia universalis, Alopecia, Cataract, Chronic mucocutaneous candidiasis, ...	OMIM:240300
Gapo Syndrome	Keratoconus, Alopecia, Sparse eyebrow, Megalocornea, Breast hypoplasia, Redundant skin, Sparse ey...	OMIM:230740
Tangier Disease	Dry skin, Nail dystrophy, Nail dysplasia, Cicatricial ectropion, Ectropion, Opacification of the ...	OMIM:205400
Anterior Segment Dysgenesis 5	Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Microphthalmia, Hypoplasia o...	OMIM:604229
Limbal Stem Cell Deficiency	Blepharospasm, Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal s...	ORPHA:171673
Microphthalmia/Coloboma 9	Microcornea, Microphthalmia, Ptosis, Ocular anterior segment dysgenesis, Narrow palpebral fissure...	OMIM:615145
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Coloboma, Ocular anterior segment dysgenesis, Developmental cataract, Microphthalmia	ORPHA:324416
Congenital Factor Xii Deficiency	Penetrating foot ulcers	ORPHA:330
Mucolipidosis Iv	Opacification of the corneal stroma, Corneal opacity	OMIM:252650
Alopecia Totalis	Inflammation of the large intestine, Alopecia totalis, Alopecia of scalp, Onycholysis, Trachyonyc...	ORPHA:700
Menkes Disease	Cutis laxa, Alopecia, Sparse hair, Brittle hair	OMIM:309400
Brooke-Spiegler Syndrome	Skin ulcer, Skin appendage neoplasm, Nodular changes affecting the eyelids, Cylindroma, Trichoepi...	ORPHA:79493
Encephalocraniocutaneous Lipomatosis	Alopecia, Hypoplasia of the iris, Eyelid coloboma, Microphthalmia, Sclerocornea, Limbal dermoid	OMIM:613001
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome	Generalized hirsutism, Osteomyelitis, Skin ulcer	ORPHA:2218
Lowry-Maclean Syndrome	Generalized hypertrichosis, Downslanted palpebral fissures, Megalocornea, Short nose, Corneal opa...	ORPHA:2409
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Pneumonia, Alopecia, Inflammatory abnormality of the skin, Eczematoid dermatitis, Hepatitis, Fail...	ORPHA:37042
Mandibuloacral Dysplasia	Alopecia, Abnormally large globe, Hypoplastic fingernail, Acanthosis nigricans, Sparse hair, Thin...	ORPHA:2457
Microphthalmia, Isolated 4	Coloboma, Microphthalmia	OMIM:613094
Mandibulofacial Dysostosis With Alopecia	Wide nasal bridge, Alopecia, Lower eyelid coloboma, Sparse eyelashes	OMIM:616367
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Wide nasal bridge, Horizontal eyebrow, Bilateral microphthalmos, Frontal upsweep of hair, Upslant...	ORPHA:369891
Brachyolmia Type 1, Hobaek Type	Opacification of the corneal stroma, Corneal opacity	OMIM:271530
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Epicanthus, Alopecia, Truncal obesity, Supernumerary nipple	ORPHA:3224
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Coarse hair, Upslanted palpebral fissure, Nail dystrophy, Brittle hair	ORPHA:75389
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Wide nasal bridge, Cataract, Horizontal eyebrow, Retinal coloboma, Astigmatism, Epicanthus, Narro...	OMIM:618571
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Keratoconus, Microcornea, Recurrent pneumonia, Downslanted palpebral fissures, Excessive wrinkled...	OMIM:225400
Pediatric Systemic Lupus Erythematosus	Discoid lupus rash, Nephritis, Alopecia, Ascites, Malar rash, Pleural effusion, Skin rash, Myosit...	ORPHA:93552
Insensitivity To Pain, Congenital, With Anhidrosis	Keratitis, Osteomyelitis, Corneal scarring, Nail dystrophy, Acral ulceration, Recurrent corneal e...	OMIM:256800
Adams-Oliver Syndrome	Cataract, Alopecia, Failure to thrive, Hypoplastic fingernail, Ascites, Aplastic/hypoplastic toen...	ORPHA:974
Subaortic Stenosis-Short Stature Syndrome	Epicanthus, Obesity, Acne, Microphthalmia	ORPHA:3191
Pigmented Nodular Adrenocortical Disease, Primary, 4	Increased body weight, Alopecia, Acne, Hirsutism	OMIM:615830
Atypical Werner Syndrome	Abnormal hair whorl, Alopecia, Thin skin, Skin ulcer, Failure to thrive, Premature graying of hai...	ORPHA:79474
Immunodeficiency 25	Eosinophilia, Recurrent pneumonia, Erythroderma	OMIM:610163
Mandibuloacral Dysplasia With Type A Lipodystrophy	Cataract, Alopecia, Breast aplasia, Abnormal eyebrow morphology, Lack of skin elasticity, Absent ...	ORPHA:90153
Stickler Syndrome Type 2	Cataract, Corneal opacity	ORPHA:90654
Warburg Micro Syndrome 4	Microcornea, Hirsutism, Low anterior hairline, Ptosis, Developmental cataract, Microphthalmia	OMIM:615663
Idiopathic Uveal Effusion Syndrome	Abnormal anterior eye segment morphology, Microphthalmia	ORPHA:209956
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Alopecia, Yellow nails, Sparse lateral eyebrow, Ridged nail, Nail dystrophy, Onycholysis	OMIM:614564
Hajdu-Cheney Syndrome	Wide nasal bridge, Cataract, Thickened skin, Coarse hair, Periodontitis, Skin ulcer, Failure to t...	ORPHA:955
Trisomy 13	Cataract, Aplasia/Hypoplasia of the iris, Anophthalmia, Multiple renal cysts, Microphthalmia, Abn...	ORPHA:3378
Pgm3-Cdg	Allergic rhinitis, Atopic dermatitis, Recurrent pneumonia, Bronchiectasis, Skin ulcer, Failure to...	ORPHA:443811
Proboscis Lateralis	Chorioretinal coloboma, Unilateral narrow palpebral fissure, Anophthalmia, Abnormal nasolacrimal ...	ORPHA:141099
Restrictive Dermopathy	Webbed neck, Sparse eyebrow, Short nail, Short palpebral fissure, Generalized hyperkeratosis, Dow...	ORPHA:1662
Neuropathy, Hereditary Sensory, Type Iic	Acral ulceration	OMIM:614213
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Failure to thrive, Eczematoid dermatitis, Angioedema, Pallo...	ORPHA:3260
Uncombable Hair Syndrome	Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy	OMIM:271310
Neonatal Inflammatory Skin And Bowel Disease	Erythema, Horizontal eyebrow, Chapped lip, Chronic monilial nail infection, Psoriasiform dermatit...	ORPHA:294023
Phoar2-Enteropathy Syndrome	Thickened skin, Seborrheic dermatitis, Acne	OMIM:614441
Fetal Alcohol Syndrome	Telecanthus, Generalized hirsutism, Epicanthus, Ptosis, Microphthalmia, Short nose	ORPHA:1915
Johanson-Blizzard Syndrome	Alopecia, Failure to thrive, Absent lacrimal punctum, Abnormal hair pattern, Short nose, Edema	ORPHA:2315
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Opacification of the corneal stroma, Hyperkeratosis, Lymphedema	ORPHA:79280
Systemic Sclerosis	Thickened skin, Alopecia, Digital ulcer, Osteomyelitis, Acral ulceration, Joint swelling, Glomeru...	ORPHA:90291
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Cataract, Microcornea, Ectopia pupillae, Cryptophthalmos, Long eyelashes, Anophthalmia, Epicanthu...	OMIM:615877
Schimmelpenning-Feuerstein-Mims Syndrome	Alopecia, Coloboma, Ichthyosis, Corneal opacity	OMIM:163200
Candidiasis, Familial, 8	Cheilitis, Seborrheic dermatitis, Blepharitis, Chronic oral candidiasis	OMIM:615527
Koolen-De Vries Syndrome Due To A Point Mutation	Wide nasal bridge, Alopecia, Short palpebral fissure, Fair hair, Eczematoid dermatitis, Recurrent...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Wide nasal bridge, Alopecia, Short palpebral fissure, Fair hair, Eczematoid dermatitis, Recurrent...	ORPHA:363958
Takayasu Arteritis	Skin ulcer, Increased inflammatory response, Weight loss, Arthritis, Inflammatory abnormality of ...	ORPHA:3287
Alpha-Mannosidosis	Cataract, Chronic otitis media, Arthritis, Corneal opacity	ORPHA:61
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Corneal opacity	ORPHA:2788
Autoimmune Lymphoproliferative Syndrome, Type Iii	Alopecia, Recurrent otitis media, Recurrent sinusitis, Membranous nephropathy, Arthritis	OMIM:615559
Gorlin-Chaudhry-Moss Syndrome	Coarse hair, Astigmatism, Low anterior hairline, Generalized hirsutism, Upper eyelid coloboma, Ab...	ORPHA:2095
Hartsfield Syndrome	Microphthalmia, Telecanthus, Ptosis, Downslanted palpebral fissures	ORPHA:2117
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Wide nasal bridge, Highly arched eyebrow, Downslanted palpebral fissures, Bilateral ptosis, Upsla...	ORPHA:404440
Immunodeficiency 114, Folate-Responsive	Atopic dermatitis, Skin ulcer	OMIM:620603
Chronic Graft Versus Host Disease	Thickened skin, Alopecia, Erythema, Xerostomia, Skin ulcer, Urinary bladder inflammation, Fasciit...	ORPHA:99921
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia, Epicanthus, Downslanted palpebral fissures	OMIM:602501
Limb-Mammary Syndrome	Alopecia, Sparse eyebrow, Absent nipple, Lacrimal duct atresia, Breast aplasia, Dry skin, Psorias...	ORPHA:69085
Biemond Syndrome Type 2	Obesity, Coloboma, Microphthalmia	ORPHA:141333
22Q11.2 Deletion Syndrome	Epicanthus, Posterior embryotoxon, Microphthalmia, Purpura, Polycystic kidney dysplasia, Chronic ...	ORPHA:567
Aplasia Cutis Congenita	Erythema, Skin ulcer	ORPHA:1114
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane...	OMIM:221900
Basel-Vanagaite-Smirin-Yosef Syndrome	Cataract, Microcornea, Recurrent pneumonia, Downslanted palpebral fissures, Epicanthus, Ptosis, M...	OMIM:616449
Microphthalmia With Limb Anomalies	Short palpebral fissure, Failure to thrive, Downslanted palpebral fissures, Anophthalmia, Blephar...	OMIM:206920
Nanophthalmos 4	Microphthalmia	OMIM:615972
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Alopecia, Seborrheic dermatitis, Failure to thrive	OMIM:210210
Mhc Class I Deficiency 1	Bronchiectasis, Ectopia lentis, Skin ulcer, Chronic sinusitis, Chronic otitis media	OMIM:604571
Björnstad Syndrome	Alopecia, Brittle hair	ORPHA:123
Ring Chromosome 10 Syndrome	Microphthalmia, Cachexia, Wide nasal bridge, Downslanted palpebral fissures	ORPHA:1438
Focal Dermal Hypoplasia	Erythema, Alopecia, Multicystic kidney dysplasia, Ectopia lentis, Chorioretinal coloboma, Hypopla...	ORPHA:2092
Congenital Toxoplasmosis	Failure to thrive in infancy, Ascites, Microphthalmia	ORPHA:858
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Cataract, Alopecia, Corneal scarring, Nail dystrophy, Nail dysplasia, Conjunctivitis	OMIM:226600
Myoclonic-Astatic Epilepsy	Microphthalmia, Wide nasal bridge, Frontal balding, Premature skin wrinkling	ORPHA:1942
Adult Syndrome	Absent nipple, Fair hair, Eczematoid dermatitis, Breast hypoplasia, Dry skin, Alopecia of scalp, ...	OMIM:103285
Tbck-Related Intellectual Disability Syndrome	Wide nasal bridge, Eczematoid dermatitis, Thick eyebrow, Oligohydramnios, Upslanted palpebral fis...	ORPHA:488632
17Q12 Microduplication Syndrome	Polyhydramnios, Microphthalmia, Synophrys	ORPHA:261272
Microphthalmia With Brain And Digit Anomalies	Cataract, Microcornea, Chorioretinal coloboma, Anophthalmia, Nail dysplasia, Microphthalmia, Scle...	ORPHA:139471
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Cataract, Microcornea, Decreased body weight, Coloboma, Shallow orbits, Microphthalmia, Iris tran...	OMIM:617306
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Cataract, Microcornea, Microphthalmia	ORPHA:48431
Abnormal Hair, Joint Laxity, And Developmental Delay	Alopecia, Sparse lateral eyebrow, Small nail, Trichorrhexis nodosa, Recurrent otitis media, Pili ...	OMIM:261990
Giant Cell Arteritis	Alopecia, Skin ulcer, Ptosis, Weight loss, Arthritis, Pericarditis	ORPHA:397
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Purpura, Skin ulcer, Thin skin	ORPHA:743
Transketolase Deficiency	Cataract, Renal cyst, Seborrheic dermatitis, Conjunctivitis, Uveitis	ORPHA:488618
Pyoderma Gangrenosum	Inflammation of the large intestine, Rheumatoid arthritis, Skin ulcer, Myositis, Skin vesicle, Pu...	ORPHA:48104
6Q Terminal Deletion Syndrome	Highly arched eyebrow, Short palpebral fissure, Failure to thrive, Obesity, Low anterior hairline...	ORPHA:75857
Blau Syndrome	Cataract, Uveitis, Band keratopathy, Nongranulomatous uveitis, Skin ulcer, Eczematoid dermatitis,...	OMIM:186580
Meckel Syndrome, Type 8	Anophthalmia, Microphthalmia, Pericardial effusion, Polycystic kidney dysplasia, Short nose	OMIM:613885
Leishmaniasis	Rhinitis, Weight loss, Pallor, Skin ulcer	ORPHA:507
Mucolipidosis Type Iii Alpha/Beta	Recurrent otitis media, Thickened skin, Epicanthus, Corneal opacity	ORPHA:423461
Neutral Lipid Storage Disease With Ichthyosis	Alopecia, Subcapsular cataract, Ptosis, Ectropion, Congenital nonbullous ichthyosiform erythroderma	ORPHA:98907
Restrictive Dermopathy 1	Sparse eyebrow, Short nail, Thin skin, Short palpebral fissure, Oligohydramnios, Sparse eyelashes...	OMIM:275210
Zinc Deficiency, Transient Neonatal	Alopecia, Eczematoid dermatitis	OMIM:608118
Microphthalmia, Isolated 1	Anophthalmia, Microphthalmia	OMIM:251600
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cataract, Alopecia, Xerostomia, Nail dystrophy, Nail dysplasia, Cachexia	OMIM:175500
Fabry Disease	Cataract, Lymphedema, Conjunctival telangiectasia, Corneal opacity, Arthritis, Cornea verticillat...	ORPHA:324
Persistent Hyperplastic Primary Vitreous	Cataract, Microcornea, Hyaloid vascular remnant and retrolental mass, Persistent pupillary membra...	ORPHA:91495
Insulin-Resistance Syndrome Type B	Pneumonia, Nephritis, Alopecia, Abnormality of body weight, Skin rash, Polycystic ovaries, Enlarg...	ORPHA:2298
Congenital Varicella Syndrome	Cataract, Microphthalmia	ORPHA:291
Immunodeficiency, Common Variable, 10	Recurrent pneumonia, Recurrent otitis media, Alopecia totalis, Psoriasiform dermatitis, Recurrent...	OMIM:615577
3Q29 Microduplication Syndrome	Wide nasal bridge, Cataract, Downslanted palpebral fissures, Aniridia, Obesity, Microphthalmia, S...	ORPHA:251038
Hurler-Scheie Syndrome	Thickened skin, Corneal opacity, Hirsutism	OMIM:607015
Microphthalmia, Syndromic 12	Wide nasal bridge, Anophthalmia, Microphthalmia	OMIM:615524
Oculodentodigital Dysplasia	Cataract, Microcornea, Dry hair, Short palpebral fissure, Uveitis, Fine hair, Epicanthus, Blephar...	OMIM:164200
Agammaglobulinemia 9, Autosomal Recessive	Seborrheic dermatitis, Eczematoid dermatitis, Failure to thrive	OMIM:619693
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Wide nasal bridge, Thickened skin, Thick eyebrow, Hypoplastic sweat glands, Epicanthus, Orthokera...	ORPHA:73223
Lymphatic Filariasis	Predominantly lower limb lymphedema, Lymphadenitis, Lymphedema, Hypereosinophilia, Orchitis, Knee...	ORPHA:2035
Hallermann-Streiff Syndrome	Cataract, Sparse eyebrow, Recurrent pneumonia, Fine hair, Downslanted palpebral fissures, Chorior...	OMIM:234100
Triokinase And Fmn Cyclase Deficiency Syndrome	Failure to thrive in infancy, Cataract, Pancreatitis, Microphthalmia	OMIM:618805
Mmep Syndrome	Microphthalmia	ORPHA:3434
Polyarteritis Nodosa	Erythema, Weight loss, Skin ulcer, Pericarditis	ORPHA:767
Relapsing Polychondritis	Cataract, Alopecia, Erythema, Keratitis, Hepatitis, Uveitis, Recurrent aphthous stomatitis, Chond...	ORPHA:728
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Wide nasal bridge, Cataract, Unilateral narrow palpebral fissure, Ectopia pupillae, Astigmatism, ...	OMIM:618727
Scalp-Ear-Nipple Syndrome	Cataract, Sparse pubic hair, Thickened skin, Fine hair, Breast aplasia, Dry skin, Telecanthus, Lo...	OMIM:181270
Dubowitz Syndrome	Wide nasal bridge, Short palpebral fissure, Sparse lateral eyebrow, Eczematoid dermatitis, Hypopl...	OMIM:223370
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Wide nasal bridge, Cataract, Microphthalmia	ORPHA:93267
Xp22.3 Microdeletion Syndrome	Opacification of the corneal stroma, Aplasia/Hypoplasia affecting the eye, Polycystic ovaries	ORPHA:1643
Mogs-Cdg	Generalized edema, Alopecia, Short palpebral fissure, Fair hair, Long eyelashes, Hirsutism, Pulmo...	ORPHA:79330
Erythroderma Desquamativum	Seborrheic dermatitis, Failure to thrive	ORPHA:314
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Microcornea, Epicanthus, Cutis laxa, Follicular hyperkeratosis, Polyhydramnios	OMIM:614557
Wilson Disease	Failure to thrive, Kayser-Fleischer ring, Hepatitis, Joint swelling, Increased body weight, Weigh...	ORPHA:905
Facial Clefting, Oblique, 1	Coloboma, Microphthalmia	OMIM:600251
Bethlem Muscular Dystrophy	Hyperkeratosis	ORPHA:610
Mosaic Trisomy 9	Webbed neck, Small nail, Oligohydramnios, Microphthalmia, Upslanted palpebral fissure, Multiple r...	ORPHA:99776
Keratitis, Hereditary	Opacification of the corneal stroma, Keratitis	OMIM:148190
Mucopolysaccharidosis, Type Vii	Coarse hair, Recurrent otitis media, Thick eyebrow, Hirsutism, Epicanthus, Corneal opacity, Hydro...	OMIM:253220
Frontofacionasal Dysplasia	Cataract, Microcornea, Ankyloblepharon, Telecanthus, Absent inner eyelashes, Eyelid coloboma, Pto...	OMIM:229400
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Shallow anterior chamber, Microphthalmia	OMIM:267760
Microscopic Polyangiitis	Erythema, Uveitis, Skin ulcer, Episcleritis, Skin rash, Increased inflammatory response, Peritoni...	ORPHA:727
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Cataract, Long palpebral fissure, Epicanthus, Microphthalmia, Short nose	ORPHA:163649
Cryoglobulinemic Vasculitis	Skin ulcer, Petechiae, Keratoconjunctivitis sicca, Arthritis, Purpura, Viral hepatitis	ORPHA:91138
Hallermann-Streiff Syndrome	Alopecia, Sparse eyebrow, Sparse body hair, Telecanthus, Sparse eyelashes, Developmental cataract...	ORPHA:2108
Chromosome 6Pter-P24 Deletion Syndrome	Short palpebral fissure, Peters anomaly, Downslanted palpebral fissures, Telecanthus, Frontal ups...	OMIM:612582
Oculofaciocardiodental Syndrome	Highly arched eyebrow, Microcornea, Cataract, Ectopia lentis, Ptosis, Microphthalmia, Iris coloboma	ORPHA:2712
Cohen Syndrome	Downslanted palpebral fissures, Failure to thrive in infancy, Long eyelashes, Thick eyebrow, Obes...	ORPHA:193
Classical-Like Ehlers-Danlos Syndrome Type 2	Webbed neck, Alopecia, Periodontitis, Bilateral ptosis, Redundant skin, Astigmatism, Keratoconjun...	ORPHA:536532
Wagro Syndrome	Cataract, Downslanted palpebral fissures, Aniridia, Obesity, Ptosis, Corneal opacity	OMIM:612469
Porphyria, Congenital Erythropoietic	Thickened skin, Alopecia, Hypertrichosis, Corneal scarring, Scleroderma, Loss of eyelashes, Absen...	OMIM:263700
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me...	ORPHA:98973
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Hyperkeratosis, Pilomatrixoma	OMIM:620189
Bjornstad Syndrome	Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Al...	OMIM:262000
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Short nose, Corneal opacity	OMIM:618961
X-Linked Endothelial Corneal Dystrophy	Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity	ORPHA:293621
Fusariosis	Pneumonia, Keratitis, Skin ulcer, Fasciitis, Osteomyelitis, Pleural effusion, Maculopapular exant...	ORPHA:228119
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Eosinophilia, Erythroderma, Hepatic cysts	OMIM:617425
Oculoauricular Syndrome	Cataract, Microcornea, Nasolacrimal duct obstruction, Posterior synechiae of the anterior chamber...	OMIM:612109
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Abnormal hair morphology, Telecanthus, Eyelid coloboma, Optic nerve hyp...	OMIM:607597
Gapo Syndrome	Keratoconus, Alopecia, Sparse eyebrow, Sparse eyelashes, Palpebral edema, Early balding	ORPHA:2067
Hurler Syndrome	Wide nasal bridge, Bilateral ptosis, Recurrent otitis media, Hirsutism, Corneal opacity, Opacific...	OMIM:607014
Letterer-Siwe Disease	Seborrheic dermatitis, Pallor, Stomatitis	OMIM:246400
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, Cataract, Obesity, Retinal coloboma	ORPHA:363741
Autoimmune Polyendocrine Syndrome, Type Ii	Cataract, Alopecia, Band keratopathy, Chronic mucocutaneous candidiasis, Hepatitis, Keratoconjunc...	OMIM:269200
Buerger Disease	Skin ulcer	ORPHA:36258
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Alopecia, Recurrent pneumonia, Failure to thrive, Recurrent otitis media, Alopecia totalis, Psori...	ORPHA:293978
Xk Aprosencephaly Syndrome	Polyhydramnios, Microphthalmia	ORPHA:3469
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Microphthalmia, Cataract, Obesity, Retinal coloboma	OMIM:601794
Infantile Systemic Hyalinosis	Thickened skin, Skin ulcer, Failure to thrive, Lymphedema, Polycystic ovaries	ORPHA:2176
Farber Disease	Failure to thrive, Ascites, Joint swelling, Hydrops fetalis, Arthritis, Corneal opacity, Opacific...	ORPHA:333
Skin Creases, Congenital Symmetric Circumferential, 1	Short palpebral fissure, Microcornea, Upslanted palpebral fissure, Epicanthus, Hypoplastic nipple...	OMIM:156610
Jacobsen Syndrome	Microcornea, Failure to thrive, Chorioretinal coloboma, Telecanthus, Eyelid coloboma, Epicanthus,...	OMIM:147791
Micro Syndrome	Wide nasal bridge, Cataract, Microcornea, Retinal coloboma, Generalized hirsutism, Microphthalmia...	ORPHA:2510
Immunodeficiency 7	Failure to thrive, Recurrent otitis media, Hypereosinophilia, Patchy alopecia, Chronic oral candi...	OMIM:615387
Joubert Syndrome 14	Highly arched eyebrow, Downslanted palpebral fissures, Epicanthus, Renal cyst, Ptosis, Coloboma, ...	OMIM:614424
Multicentric Carpotarsal Osteolysis Syndrome	Corneal opacity	OMIM:166300
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Alopecia, Striae distensae, Hirsutism, Increased body weight, Abdominal obesity, Acne	ORPHA:189427
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Short palpebral fissure, Upslanted palpebral fissure, Patchy alopecia, Sparse hair, Corneal dystr...	OMIM:617763
Aplasia Cutis-Myopia Syndrome	Skin ulcer	ORPHA:1117
Spondylodysplastic Ehlers-Danlos Syndrome	Posterior subcapsular cataract, Optic nerve hypoplasia, Optic disc coloboma, Megalocornea, Downsl...	ORPHA:536471
Epidermodysplasia Verruciformis	Pustule, Seborrheic dermatitis, Recurrent skin infections	ORPHA:302
Cutis Laxa, Autosomal Dominant 3	Premature skin wrinkling, Cutis laxa, Developmental cataract, Corneal opacity, Dermal translucency	OMIM:616603
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Cataract, Microphthalmia	OMIM:251270
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Sparse eyebrow, Optic nerve hypoplasia, Long eyelashes, Low anterior hairline, Hirsutism, Broad e...	ORPHA:495875
Corneal Dystrophy And Perceptive Deafness	Opacification of the corneal stroma, Corneal dystrophy	OMIM:217400
Walker-Warburg Syndrome	Cataract, Microcornea, Anophthalmia, Corneal opacity, Microphthalmia, Iris coloboma	ORPHA:899
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Recurrent otitis media, Oligohydramnios, Increased nuchal translucency, Epicanthus, Microphthalmia	OMIM:618494
Oculotrichoanal Syndrome	Cryptophthalmos, Anophthalmia, Abnormal hair pattern, Upper eyelid coloboma, Nasolacrimal duct ob...	ORPHA:2717
Corneal Dystrophy, Posterior Polymorphous, 1	Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet...	OMIM:122000
Nestor-Guillermo Progeria Syndrome	Alopecia, Sparse eyebrow, Failure to thrive, Dry skin, Nail dystrophy, Sparse eyelashes, Sparse s...	OMIM:614008
Celiac Disease, Susceptibility To, 1	Alopecia, Eczematoid dermatitis, Failure to thrive, Recurrent aphthous stomatitis, Weight loss, S...	OMIM:212750
Fuchs Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Abnormal Descemet membrane morphology, Reduced number of...	ORPHA:98974
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Aniridia, Telecanthus, Developmental glaucoma, Corneal opacity	ORPHA:1064
Chromosome 8Q21.11 Deletion Syndrome	Wide nasal bridge, Cataract, Short palpebral fissure, Downslanted palpebral fissures, Epicanthus,...	OMIM:614230
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal guttata, Corneal stromal edema, Corneal opacity	OMIM:613267
Distal Deletion 6P	Hypoplasia of the iris, Ectopia pupillae, Downslanted palpebral fissures, Epicanthus, Posterior e...	ORPHA:96125
Manitoba Oculotrichoanal Syndrome	Cryptophthalmos, Abnormality of the hairline, Eyelid coloboma, Anophthalmia, Nasolacrimal duct ob...	OMIM:248450
Dyskeratosis Congenita, Autosomal Recessive 6	Alopecia, Sparse hair, Nail dystrophy, Failure to thrive	OMIM:616353
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Recurrent pneumonia, Recurrent aphthous stomatitis, Pyoderma gangrenosum, Bronchiectasis, Chronic...	OMIM:150550
Keutel Syndrome	Recurrent otitis media, Alopecia, Recurrent sinusitis	ORPHA:85202
Microphthalmia/Coloboma 12	Peters anomaly, Chorioretinal coloboma, Optic disc coloboma, Optic nerve aplasia, Remnants of the...	OMIM:120200
Oculocerebrorenal Syndrome Of Lowe	Lentiglobus, Cataract, Periodontitis, Skin ulcer, Fine hair, Failure to thrive, Dehydration, Abno...	ORPHA:534
Infantile Myofibromatosis	Abnormal hair morphology, Skin ulcer	ORPHA:2591
Otodental Syndrome	Cataract, Microcornea, Periodontitis, Retinal coloboma, Otitis media with effusion, Microphthalmi...	ORPHA:2791
Leigh Syndrome	Cataract, Alopecia, Failure to thrive, Eczematoid dermatitis, Hypertrichosis, Ptosis, Frontal hir...	ORPHA:506
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Developmental cataract, Microphthalmia	OMIM:613155
Leprechaunism	Thickened skin, Facial hypertrichosis, Failure to thrive, Hypertrichosis, Decreased body weight, ...	ORPHA:508
Mosaic Trisomy 1	Hypoplastic thumbnail, Wide nasal bridge, Small nail, Downslanted palpebral fissures, Congenital ...	ORPHA:1692
Orofaciodigital Syndrome Type 1	Wide nasal bridge, Multicystic kidney dysplasia, Alopecia, Coarse hair, Downslanted palpebral fis...	ORPHA:2750
Juvenile Sialidosis Type 2	Cataract, Corneal opacity, Generalized hypertrichosis	ORPHA:93399
Congenital Hereditary Endothelial Dystrophy Type Ii	Abnormal Descemet membrane morphology, Irregular astigmatism, Corneal stromal edema, Increased co...	ORPHA:293603
Autosomal Dominant Severe Congenital Neutropenia	Pneumonia, Periodontitis, Recurrent aphthous stomatitis, Eosinophilia, Pyoderma gangrenosum, Rhin...	ORPHA:486
Mietens Syndrome	Wide nasal bridge, Cataract, Microcornea, Corneal opacity, Sclerocornea, Short nose	ORPHA:2557
Ophthalmomandibulomelic Dysplasia	Corneal opacity, Megalocornea	ORPHA:2741
Ollier Disease	Skin ulcer	ORPHA:296
Acrofrontofacionasal Dysostosis 1	Wide nasal bridge, S-shaped palpebral fissures, Small nail, Long eyelashes, Iris atrophy, Ptosis,...	OMIM:201180
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Cataract, Cystic renal dysplasia, Microphthalmia	OMIM:613730
Satoyoshi Syndrome	Alopecia universalis, Alopecia	OMIM:600705
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Short palpebral fissure, Small nail, Failure to thrive, Thin eyebrow, Telecanthus, Oligohydramnio...	OMIM:608670
Microphthalmia With Linear Skin Defects Syndrome	Wide nasal bridge, Erythema, Failure to thrive, Microphthalmia, Anophthalmia, Abnormal nasolacrim...	ORPHA:2556
Cushing Disease	Acne, Pedal edema, Skin ulcer, Striae distensae, Ecchymosis, Hirsutism, Increased body weight, Re...	ORPHA:96253
Hemochromatosis, Type 1	Ascites, Alopecia, Pleural effusion	OMIM:235200
Vitamin D-Dependent Rickets, Type 2A	Wide nasal bridge, Alopecia universalis, Failure to thrive, Epicanthus	OMIM:277440
Progeria-Short Stature-Pigmented Nevi Syndrome	Cataract, Alopecia, Band keratopathy, Low posterior hairline, Small for gestational age	ORPHA:2959
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Symblepharon, Skin ulcer, Nail dystrophy, Recurrent loss of toenails and fingernails, Corneal pte...	OMIM:245660
Microphthalmia, Isolated 8	Short palpebral fissure, Retinal coloboma, True anophthalmia, Anophthalmia, Entropion, Microphtha...	OMIM:615113
Lissencephaly 8	Cataract, Microphthalmia	OMIM:617255
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Alopecia, Iridocyclitis, Pancreatitis	ORPHA:412057
Ohdo Syndrome, X-Linked	Wide nasal bridge, Sparse eyebrow, High anterior hairline, Downslanted palpebral fissures, Decrea...	OMIM:300895
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Polyhydramnios, Short nose, Microphthalmia	ORPHA:2547
Dyskeratosis Congenita, Digenic	Alopecia, Failure to thrive, Bilateral ptosis, Nail dystrophy, Sparse eyelashes	OMIM:620040
Curry-Jones Syndrome	Generalized hirsutism, Iris coloboma, Optic disc coloboma, Microphthalmia	ORPHA:1553
Histiocytoid Cardiomyopathy	Failure to thrive, Megalocornea, Pallor, Polycystic ovaries, Pulmonary edema, Renal cyst, Corneal...	ORPHA:137675
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Alopecia	OMIM:612079
Yao Syndrome	Uveitis, Inflammatory abnormality of the skin, Xerostomia, Skin rash, Keratoconjunctivitis sicca,...	OMIM:617321
Trisomy 18	Cataract, Microcornea, Webbed neck, Oligohydramnios, Abnormal toenail morphology, Epicanthus, Cac...	ORPHA:3380
Norrie Disease	Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria, Corneal opacit...	OMIM:310600
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Small nail, Large for gestational age, Ichthyosis, Upslanted palpebral fissure, Seborrheic dermat...	OMIM:300868
Fanconi Anemia, Complementation Group I	Pallor, Astigmatism, Decreased body weight, Microphthalmia, Optic nerve hypoplasia	OMIM:609053
Limited Cutaneous Systemic Sclerosis	Skin ulcer	ORPHA:220402
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Martsolf Syndrome 1	Cataract, Downslanted palpebral fissures, Low anterior hairline, Low posterior hairline, Abnormal...	OMIM:212720
Blau Syndrome	Posterior uveitis, Cataract, Erythema, Keratitis, Skin ulcer, Xerostomia, Dry skin, Ichthyosis, S...	ORPHA:90340
2Q31.1 Microdeletion Syndrome	Short palpebral fissure, Optic disc coloboma, Downslanted palpebral fissures, Abnormal hair morph...	ORPHA:251014
Congenital Primary Aphakia	Corneal perforation, Optic disc coloboma, Aniridia, Congenital aphakia, Microphthalmia, Aplasia/H...	ORPHA:83461
Linear Nevus Sebaceus Syndrome	Alopecia, Telecanthus, Iris coloboma, Microphthalmia	ORPHA:2612
Xeroderma Pigmentosum, Complementation Group D	Cataract, Keratitis, Corneal neovascularization, Keratoconjunctivitis sicca, Entropion, Microphth...	OMIM:278730
Congenital Muscular Dystrophy With Cerebellar Involvement	Cataract, Abnormality iris morphology, Megalocornea, Coloboma, Microphthalmia, Optic nerve hypopl...	ORPHA:370959
Beta-Thalassemia	Hepatitis, Pallor, Skin ulcer	ORPHA:848
Cystinosis	Failure to thrive, Dehydration, Corneal opacity	ORPHA:213
Behcet Syndrome	Erythema, Hypopyon, Patchy alopecia, Iridocyclitis, Arthritis, Erythema nodosum, Epididymitis, Ir...	OMIM:109650
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Sparse eyebrow, Failure to thrive, Unilateral microphthalmos, Alopecia of scalp, Sparse eyelashes...	OMIM:618874
Epithelial Recurrent Erosion Dystrophy	Corneal scarring, Irregular astigmatism, Subepithelial corneal opacities, Recurrent corneal erosi...	ORPHA:293381
Hypergonadotropic Hypogonadism And Partial Alopecia	Alopecia	OMIM:241090
Microphthalmia, Lenz Type	Cataract, Microcornea, Webbed neck, Ankyloblepharon, Chorioretinal coloboma, Optic disc coloboma,...	ORPHA:568
Moebius Syndrome	Congenital fibrosis of extraocular muscles, Epicanthus, Abnormality of the nail, Microphthalmia	OMIM:157900
Granulomatosis With Polyangiitis	Keratitis, Skin ulcer, Episcleritis, Weight loss, Sinusitis, Conjunctivitis, Chronic otitis media...	OMIM:608710
Brittle Cornea Syndrome 2	Keratoconus, Corneal perforation, Megalocornea, Keratoglobus, Sclerocornea, Flat cornea, Decrease...	OMIM:614170
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Kikuchi-Fujimoto Disease	Erythema, Alopecia, Malar rash, Pleural effusion, Skin rash, Pustule, Weight loss, Myocarditis, P...	ORPHA:50918
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microcornea, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Microphthalmia, Pos...	ORPHA:231736
Lmna-Related Cardiocutaneous Progeria Syndrome	Alopecia universalis, Premature graying of hair, Premature skin wrinkling, Scleroderma, Absent ey...	ORPHA:363618
3Mc Syndrome 3	Highly arched eyebrow, Ptosis, Blepharophimosis, Corneal opacity, Epicanthus inversus	OMIM:248340
Basel-Vanagaite-Smirin-Yosef Syndrome	Sparse eyebrow, Microcornea, Recurrent pneumonia, Downslanted palpebral fissures, Epicanthus, Pto...	ORPHA:464738
Warburg Micro Syndrome 2	Cataract, Microcornea, Low anterior hairline, Developmental cataract, Microphthalmia, Short nose	OMIM:614225
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Cataract, Optic nerve hypoplasia, Microphthalmia	OMIM:615181
Biotinidase Deficiency	Skin rash, Conjunctivitis, Alopecia, Eczematoid dermatitis	ORPHA:79241
Sympathetic Ophthalmia	Posterior uveitis, Cataract, Alopecia, Anterior chamber cells, Posterior synechiae of the anterio...	ORPHA:79098
Rat-Bite Fever	Septic arthritis, Lymphadenitis, Parotitis, Morbilliform rash, Skin rash, Pustule, Myocarditis, W...	ORPHA:31205
Frontorhiny	Cataract, Epicanthus, Ptosis, Microphthalmia, Iris coloboma, Widow's peak	ORPHA:391474
Neuroocular Syndrome 1	Hooded upper eyelid, Small nail, Hypoplasia of the fovea, Brittle hair, Microphthalmia, Lens colo...	OMIM:619539
Braddock-Carey Syndrome 2	Microphthalmia, Downslanted palpebral fissures	OMIM:619981
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Sparse eyebrow, Failure to thrive, Fine hair, Dry skin, Oligohydramnios, Sparse eyelashes, Renal ...	OMIM:210710
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Aspiration pneumonia, Ascites, Ichthyosis, Seborrheic dermatitis, Truncal obesity	OMIM:301072
Aniridia 1	Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupillae, Bilateral ptosis, Aniridia, C...	OMIM:106210
Hurler Syndrome	Wide nasal bridge, Thick eyebrow, Generalized hirsutism, Corneal opacity, Rhinitis	ORPHA:93473
Peroxisome Biogenesis Disorder 2A (Zellweger)	Cataract, Failure to thrive, Opacification of the corneal stroma, Upslanted palpebral fissure, Ep...	OMIM:214110
Wiedemann-Rautenstrauch Syndrome	Small nail, Dry skin, Sparse eyelashes, Absent eyelashes, Absent eyebrow, Narrow palpebral fissur...	OMIM:264090
Kyphoscoliotic Ehlers-Danlos Syndrome	Microcornea, Downslanted palpebral fissures, Epicanthus, Follicular hyperkeratosis, Synophrys, Th...	ORPHA:536545
Mucopolysaccharidosis Type 3	Cataract, Coarse hair, Aspiration pneumonia, Otitis media, Hirsutism, Generalized hirsutism, Thic...	ORPHA:581
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Cataract, Foot osteomyelitis, Acral ulceration, Osteomyelitis	OMIM:162400
Teebi-Shaltout Syndrome	Wide nasal bridge, Highly arched eyebrow, Telecanthus, Low anterior hairline, Ptosis, Slow-growin...	OMIM:272950
Wiedemann-Rautenstrauch Syndrome	Aplasia/Hypoplasia of the nails, Cataract, Thin skin, Failure to thrive, Optic disc hypoplasia, P...	ORPHA:3455
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Microphthalmia	ORPHA:1528
Autosomal Dominant Hypocalcemia	Alopecia, Eczematoid dermatitis, Abnormal fingernail morphology, Dry skin, Abnormality of the nail	ORPHA:428
Immunoglobulin A Vasculitis	Erythema, Skin ulcer, Angioedema, Episcleritis, Skin rash, Infectious encephalitis, Pustule, Orch...	ORPHA:761
Al-Gazali Syndrome	Recurrent pneumonia, Failure to thrive, Polyhydramnios, Corneal opacity, Sclerocornea	OMIM:609465
Neutrophilic Dermatosis, Acute Febrile	Erythema, Acne inversa, Panniculitis, Pyoderma gangrenosum, Cystic acne	OMIM:608068
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Cataract, Chorioretinal coloboma, Corneal scarring, Microphthalmia, Buphthalmos, Iris coloboma	OMIM:212550
Fryns Syndrome	Wide nasal bridge, Multicystic kidney dysplasia, Hypoplastic fingernail, Corneal opacity, Microph...	ORPHA:2059
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Severe Generalized Junctional Epidermolysis Bullosa	Pneumonia, Alopecia, Abnormal cornea morphology, Multicystic kidney dysplasia, Failure to thrive,...	ORPHA:79404
Chromosome 1Q41-Q42 Deletion Syndrome	Sparse eyebrow, Small nail, Downslanted palpebral fissures, Supernumerary nipple, Upslanted palpe...	OMIM:612530
Thrombocytopenia-Absent Radius Syndrome	Cataract, Edema of the dorsum of hands, Eosinophilia, Ptosis, Seborrheic dermatitis, Corneal opac...	OMIM:274000
Mosaic Variegated Aneuploidy Syndrome	Cataract, Multicystic kidney dysplasia, Downslanted palpebral fissures, Ascites, Increased nuchal...	ORPHA:1052
Orofaciodigital Syndrome I	Wide nasal bridge, Alopecia, Dry hair, Downslanted palpebral fissures, Pancreatic cysts, Telecant...	OMIM:311200
Fontaine Progeroid Syndrome	Small nail, Aplastic/hypoplastic lacrimal glands, Low posterior hairline, Microphthalmia, Short n...	OMIM:612289
Acquired Purpura Fulminans	Pyoderma gangrenosum, Skin rash, Macular purpura	ORPHA:49566
Schimke Immuno-Osseous Dysplasia	Minimal change glomerulonephritis, Failure to thrive, Pancreatitis, Corneal opacity, Small for ge...	ORPHA:1830
Multiple Sulfatase Deficiency	Periorbital edema, Ichthyosis, Corneal opacity	OMIM:272200
Autoimmune Polyendocrinopathy Type 2	Hashimoto thyroiditis, Alopecia	ORPHA:3143
Multicentric Osteolysis, Nodulosis, And Arthropathy	Thickened skin, Corneal opacity, Peripheral opacification of the cornea, Hirsutism	OMIM:259600
Satoyoshi Syndrome	Abnormal hair morphology, Alopecia universalis, Sparse or absent eyelashes	ORPHA:3130
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Wiskott-Aldrich Syndrome	Inflammation of the large intestine, Abnormal eosinophil morphology, Keratitis, Skin ulcer, Eczem...	ORPHA:906
Autosomal Recessive Robinow Syndrome	Wide nasal bridge, Alopecia, Multicystic kidney dysplasia, Downslanted palpebral fissures, Finger...	ORPHA:1507
Graft Versus Host Disease	Pneumonia, Inflammatory abnormality of the skin, Failure to thrive, Fasciitis, Acute hepatitis, C...	ORPHA:39812
Galloway-Mowat Syndrome 1	Cataract, Small nail, Hypoplasia of the iris, Oligohydramnios, Epicanthus, Ptosis, Microphthalmia...	OMIM:251300
Disabling Pansclerotic Morphea Of Childhood	Skin ulcer, Morphea	OMIM:620443
Familial Multiple Nevi Flammei	Skin ulcer, Edema	ORPHA:624
Encephalocraniocutaneous Lipomatosis	Alopecia, Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Corneal opacity, A...	ORPHA:2396
Alstrom Syndrome	Nephritis, Alopecia, Recurrent pneumonia, Obesity, Otitis media, Subcapsular cataract, Acanthosis...	OMIM:203800
Calciphylaxis	Abnormality of skin physiology, Skin ulcer	ORPHA:280062
Livedoid Vasculopathy	Skin ulcer, Macular purpura, Superficial dermal perivascular inflammatory infiltrate, Ecchymosis,...	ORPHA:542643
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Sparse hair, Short nose, Brittle hair	OMIM:608612
Dyrk1A-Related Intellectual Disability Syndrome	Failure to thrive, Eczematoid dermatitis, Breast hypoplasia, Oligohydramnios, Astigmatism, Renal ...	ORPHA:464306
Amoebiasis Due To Free-Living Amoebae	Pneumonia, Corneal perforation, Unusual skin infection, Skin ulcer, Infectious encephalitis, Conj...	ORPHA:68
Complement Component 5 Deficiency	Generalized seborrheic dermatitis	OMIM:609536
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Alopecia	OMIM:600785
Chromosome 17Q12 Duplication Syndrome	Microphthalmia, Peters anomaly, Downslanted palpebral fissures	OMIM:614526
Dyskeratosis Congenita, Autosomal Dominant 3	Alopecia, Fine hair, Premature graying of hair, Dry skin, Nail dystrophy, Nail dysplasia	OMIM:613990
Sweet Syndrome	Inflammation of the large intestine, Acne inversa, Predominantly dermal neutrophilic infiltrate, ...	ORPHA:3243
Myhre Syndrome	Cataract, Thickened skin, Fine hair, Obesity, Thick eyebrow, Blepharophimosis, Narrow palpebral f...	OMIM:139210
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Weight loss, Panniculitis, Skin ulcer	ORPHA:86884
Tetraamelia-Multiple Malformations Syndrome	Cataract, Microcornea, Multicystic kidney dysplasia, Microphthalmia, Polyhydramnios, Septo-optic ...	ORPHA:3301
Joubert Syndrome 22	Coloboma, Microphthalmia	OMIM:615665
Nance-Horan Syndrome	Cataract, Microcornea, Microphthalmia	ORPHA:627
Mucopolysaccharidosis Type 7	Hepatitis, Lymphedema, Ascites, Corneal opacity, Hydrops fetalis	ORPHA:584
Developmental And Epileptic Encephalopathy 1	Microphthalmia	OMIM:308350
Gelatinous Drop-Like Corneal Dystrophy	Blepharospasm, Conjunctival amyloidosis, Corneal neovascularization, Subepithelial corneal opacit...	ORPHA:98957
Fish-Eye Disease	Opacification of the corneal stroma	OMIM:136120
Mucopolysaccharidosis Type 1	Low anterior hairline, Generalized hirsutism, Corneal opacity, Sinusitis, Chronic otitis media	ORPHA:579
Papillorenal Syndrome	Cataract, Multicystic kidney dysplasia, Edema, Optic disc coloboma, Retinal coloboma, Orbital cys...	OMIM:120330
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Abnormal hair morphology, Nail dystrophy, Short nose, Thin skin	ORPHA:90154
Tangier Disease	Ectropion, Dry skin, Nail dystrophy, Corneal opacity	ORPHA:31150
Moebius Syndrome	Breast aplasia, Epicanthus, Ptosis, Corneal opacity, Blepharitis	ORPHA:570
Holocarboxylase Synthetase Deficiency	Alopecia, Skin rash	OMIM:253270
Chronic Granulomatous Disease	Eczematoid dermatitis, Skin ulcer, Otitis media, Sinusitis, Inflammatory abnormality of the eye	ORPHA:379
Primary Sjögren Syndrome	Corneal perforation, Arteritis, Xerostomia, Skin ulcer, Parotitis, Chronic active hepatitis, Dry ...	ORPHA:289390
Skin Creases, Congenital Symmetric Circumferential, 2	Wide nasal bridge, Microcornea, Short palpebral fissure, Downslanted palpebral fissures, Upslante...	OMIM:616734
Garg-Mishra Progeroid Syndrome	Sparse hair, Small nail, Microphthalmia	OMIM:620601
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Microphthalmia	OMIM:218670
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Wide nasal bridge, Ocular albinism, Upslanted palpebral fissure, Blepharophimosis, Microphthalmia	ORPHA:1352
Cockayne Syndrome B	Microcornea, Dry hair, Failure to thrive, Hypoplasia of the iris, Abnormal hair morphology, Dry s...	OMIM:133540
Charcot-Marie-Tooth Disease Type 4B2	Cataract, Penetrating foot ulcers, Ptosis, Buphthalmos, Developmental glaucoma	ORPHA:99956
Dominant Beta-Thalassemia	Skin ulcer, Failure to thrive in infancy, Pallor, Upslanted palpebral fissure, Chronic hepatitis	ORPHA:231226
Cousin Syndrome	Microcornea, Short palpebral fissure, Facial hirsutism, Low anterior hairline, Blepharophimosis, ...	OMIM:260660
Monosomy 9P	Highly arched eyebrow, Webbed neck, Downslanted palpebral fissures, Thick eyebrow, Upslanted palp...	ORPHA:261112
Plague	Mydriasis, Inflammation of the large intestine, Lymphadenitis, Skin ulcer, Chapped lip, Dry skin,...	ORPHA:707
Ritscher-Schinzel Syndrome 3	Microphthalmia, Highly arched eyebrow, Chorioretinal coloboma, Downslanted palpebral fissures	OMIM:619135
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Webbed neck, Lens coloboma, Microphthalmia	OMIM:618914
Cowden Syndrome	Cataract, Palmoplantar keratoderma, Failure to thrive, Generalized hyperkeratosis, Enlarged polyc...	ORPHA:201
Treacher-Collins Syndrome	Blepharospasm, Cataract, Wide nasal bridge, Failure to thrive, Downslanted palpebral fissures, Ab...	ORPHA:861
Neuropathy, Hereditary Sensory And Autonomic, Type Ic	Osteomyelitis, Skin ulcer	OMIM:613640
Stevenson-Carey Syndrome	Microphthalmia, Coloboma, Downslanted palpebral fissures	OMIM:611961
Pelvis-Shoulder Dysplasia	Opacification of the corneal stroma, Iris coloboma, Optic disc coloboma, Microphthalmia	OMIM:169550
Autosomal Dominant Robinow Syndrome	Wide nasal bridge, Onychogryposis of fingernail, Alopecia, Ridged fingernail, Downslanted palpebr...	ORPHA:3107
Localized Scleroderma	Thickened skin, Erythema, Abnormal skin adnexa morphology, Fasciitis, Esophagitis, Hashimoto thyr...	ORPHA:90289
3Q29 Microdeletion Syndrome	Cataract, Failure to thrive, Downslanted palpebral fissures, Microphthalmia, Short nose	ORPHA:65286
Pelvis-Shoulder Dysplasia	Short palpebral fissure, Microcornea, Bilateral microphthalmos, Retinal coloboma, Facial hirsutis...	ORPHA:2839
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Cataract, Coloboma, Abnormally large globe, Microphthalmia	OMIM:615249
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy	Alopecia	OMIM:600142
Hutchinson-Gilford Progeria Syndrome	Dystrophic toenail, Premature skin wrinkling, Nocturnal lagophthalmos, Alopecia totalis, Lack of ...	ORPHA:740
Traboulsi Syndrome	Cataract, Ectopia lentis, Phakodonesis, Downslanted palpebral fissures, Microphthalmia, Iris atro...	OMIM:601552
Brachyolmia Type 1, Toledo Type	Opacification of the corneal stroma	OMIM:271630
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Polycystic ovaries, Alopecia, Acne, Hirsutism	ORPHA:90795
Neurocardiofaciodigital Syndrome	Cataract, Sparse eyebrow, Failure to thrive, Narrow palpebral fissure, Sclerocornea, Sparse hair,...	OMIM:619869
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Cataract, Peters anomaly, Megalocornea, Coloboma, Corneal opacity, Microphthalmia, Buphthalmos, O...	OMIM:236670
Fryns Syndrome	Wide nasal bridge, Chylothorax, Small nail, Facial hirsutism, Large for gestational age, Renal cy...	OMIM:229850
Stromme Syndrome	Wide nasal bridge, Cataract, Microcornea, Peters anomaly, Microphthalmia, Sclerocornea, Iris colo...	OMIM:243605
Peters Anomaly	Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an...	ORPHA:708
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Wide nasal bridge, Cataract, Sparse eyebrow, Eyelid coloboma, Sparse eyelashes, Epicanthus, Ptosi...	ORPHA:306542
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Optic disc coloboma, Ectopia pupillae, Recurrent otitis media, Microphthalmia, Corneal opacity, L...	OMIM:608940
Cerebrooculofacioskeletal Syndrome 4	Failure to thrive in infancy, Blepharophimosis, Bilateral microphthalmos, Decreased body weight	OMIM:610758
3P25.3 Microdeletion Syndrome	Microphthalmia, Epicanthus, Blepharophimosis, Downslanted palpebral fissures	ORPHA:435638
Kapur-Toriello Syndrome	Cataract, Retinal coloboma, Low posterior hairline, Microphthalmia, Iris coloboma	OMIM:244300
Adrenoleukodystrophy	Alopecia	OMIM:300100
Marden-Walker Syndrome	Epicanthus, Ptosis, Blepharophimosis, Microphthalmia	OMIM:248700
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Alopecia, Rheumatoid arthritis, Xerostomia, Hepatitis, Iridocyclitis, Keratoc...	ORPHA:227990
Mucopolysaccharidosis, Type Vi	Pneumonia, Thickened skin, Corneal opacity, Hirsutism	OMIM:253200
Curry-Jones Syndrome	High anterior hairline, Hirsutism, Blepharophimosis, Microphthalmia, Iris coloboma	OMIM:601707
Alpha-Mannosidosis, Adult Form	Pneumonia, Cataract, Corneal opacity	ORPHA:309288
Fraser Syndrome 1	Wide nasal bridge, Lacrimal duct aplasia, Small nail, Bilateral microphthalmos, Cryptophthalmos, ...	OMIM:219000
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ectopia pupillae, Coloboma, Corneal opacity, Microphthalmia, Lens subluxation	ORPHA:85167
Neuropathy, Hereditary Sensory And Autonomic, Type Iib	Osteomyelitis, Acral ulceration	OMIM:613115
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Sparse pubic hair, Alopecia, Sparse eyebrow, Abnormal eyebrow morphology, Breast hypoplasia, Alop...	ORPHA:2232
Fibrodysplasia Ossificans Progressiva	Alopecia	OMIM:135100
Linear Skin Defects With Multiple Congenital Anomalies 3	Sclerocornea, Microphthalmia, Failure to thrive, Lacrimal duct atresia	OMIM:300952
Amoebic Keratitis	Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ...	ORPHA:67043
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Sclerocornea, Iris coloboma, Anophthalmia, Microphthalmia	ORPHA:77298
Congenital Fibrinogen Deficiency	Hemorrhagic ovarian cyst, Microphthalmia, Developmental cataract, Abnormality of the subungual re...	ORPHA:335
Schimke Immunoosseous Dysplasia	Wide nasal bridge, Coarse hair, Fine hair, Astigmatism, Opacification of the corneal stroma, Smal...	OMIM:242900
Galloway-Mowat Syndrome 3	Failure to thrive, Downslanted palpebral fissures, Oligohydramnios, Epicanthus, Microphthalmia, E...	OMIM:617729
Hereditary Spherocytosis	Gout, Pallor, Skin ulcer, Maculopapular exanthema	ORPHA:822
Momo Syndrome	Chorioretinal coloboma, Downslanted palpebral fissures, Bilateral microphthalmos, Obesity, Large ...	ORPHA:2563
Attenuated Chédiak-Higashi Syndrome	Skin ulcer, Ocular albinism	ORPHA:352723
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Alopecia, Rheumatoid arthritis, Xerostomia, Hepatitis, Hashimoto thyroiditis,...	ORPHA:227982
Gracile Bone Dysplasia	Ascites, Aniridia, Failure to thrive, Microphthalmia	OMIM:602361
Malakoplakia	Inflammatory abnormality of the skin, Skin ulcer, Urinary bladder inflammation, Skin rash, Orchit...	ORPHA:556
1Q21.1 Microdeletion Syndrome	Wide nasal bridge, Cataract, Failure to thrive, Epicanthus, Microphthalmia, Iris coloboma	ORPHA:250989
Interstitial Granulomatous Dermatitis With Arthritis	Inflammatory abnormality of the skin, Erythema, Rheumatoid arthritis, Pruritus	ORPHA:79099
Dyskeratosis Congenita, Autosomal Dominant 1	Alopecia, Premature graying of hair, Ridged nail, Interstitial pneumonitis, Nail dystrophy, Spars...	OMIM:127550
Wolf-Hirschhorn Syndrome	Wide nasal bridge, Highly arched eyebrow, High anterior hairline, Failure to thrive, Megalocornea...	ORPHA:280
Axenfeld-Rieger Syndrome, Type 2	Wide nasal bridge, Microcornea, Telecanthus, Opacification of the corneal stroma, Anterior chambe...	OMIM:601499
Granulomatosis With Polyangiitis	Periorbital edema, Skin ulcer, Otitis media, Skin rash, Increased inflammatory response, Prostati...	ORPHA:900
Smith-Lemli-Opitz Syndrome	Wide nasal bridge, Cataract, Multicystic kidney dysplasia, Downslanted palpebral fissures, Increa...	ORPHA:818
Stuve-Wiedemann Syndrome 1	Short palpebral fissure, Premature skin wrinkling, Opacification of the corneal stroma, Oligohydr...	OMIM:601559
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia, Decreased body weight	OMIM:614833
Holoprosencephaly	Highly arched eyebrow, Chorioretinal coloboma, Failure to thrive in infancy, Thick eyebrow, Upsla...	ORPHA:2162
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Eczematoid dermatitis, Skin ulcer, Recurrent otitis media, Skin rash, Recurrent sinusitis, Hashim...	OMIM:615688
Seckel Syndrome 2	Small for gestational age, Microphthalmia	OMIM:606744
Kapur-Toriello Syndrome	Microphthalmia, Iris coloboma, Failure to thrive, Retinal coloboma	ORPHA:2328
Sanjad-Sakati Syndrome	Astigmatism, Aplasia/Hypoplasia affecting the eye, Corneal opacity	ORPHA:2323
Adult Polyglucosan Body Disease	Skin ulcer	ORPHA:206583
Sarcoidosis	Cataract, Alopecia, Enlarged lacrimal glands, Chylothorax, Parotitis, Pleural effusion, Joint swe...	ORPHA:797
Vitreoretinochoroidopathy	Microphthalmia, Microcornea, Developmental cataract, Pulverulent cataract	OMIM:193220
Oculoectodermal Syndrome	Wide nasal bridge, Microcornea, Supernumerary nipple, Lymphedema, Astigmatism, Eyelid coloboma, E...	OMIM:600268
Hutchinson-Gilford Progeria Syndrome	Alopecia	OMIM:176670
Microphthalmia, Syndromic 5	Cataract, Microcornea, Anophthalmia, Coloboma, Microphthalmia, Optic nerve hypoplasia	OMIM:610125
Cockayne Syndrome	Lentiglobus, Cataract, Band keratopathy, Dry hair, Abnormal cornea morphology, Fine hair, Prematu...	ORPHA:191
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome	Alopecia	OMIM:620651
Digeorge Syndrome	Short palpebral fissure, Recurrent pneumonia, Recurrent otitis media, Obesity, Ovarian cyst, Recu...	OMIM:188400
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Peters anomaly, Small nail, Downslanted palpebral fissures, Upslanted palpebral fissure, Renal cy...	OMIM:616975
Autosomal Dominant Cutis Laxa	Premature skin wrinkling, Pyelonephritis, Redundant skin, Redundant neck skin, Cutis laxa, Ptosis...	ORPHA:90348
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Failure to thrive, Oligohydramnios, Astigmatism, Renal cyst, Corneal opacity, Polyhydramnios, Sma...	ORPHA:464311
Alpha-Mannosidosis, Infantile Form	Pneumonia, Highly arched eyebrow, Cataract, Astigmatism, Otitis media, Corneal opacity	ORPHA:309282
Lathosterolosis	Cataract, Microcornea, Failure to thrive, Downslanted palpebral fissures, Epicanthus, Ptosis, Opa...	ORPHA:46059
Acro-Renal-Ocular Syndrome	Cataract, Short palpebral fissure, Microcornea, Optic disc hypoplasia, Chorioretinal coloboma, Op...	ORPHA:959
Diffuse Cutaneous Systemic Sclerosis	Xerostomia, Skin ulcer, Arthritis	ORPHA:220393
Familial Exudative Vitreoretinopathy	Microphthalmia, Cataract, Macular edema, Lymphedema	ORPHA:891
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Failure to thrive, Thick eyebrow, Upslanted palpebral fissure, Decreased body weight, Patchy alop...	OMIM:300534
Pseudo-Torch Syndrome 1	Cataract, Opacification of the corneal stroma, Petechiae, Failure to thrive	OMIM:251290
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Recurrent otitis media, Ptosis, Blepharophimosis, Microphthalmia	ORPHA:2728
Degcags Syndrome	Pneumonia, Failure to thrive, Premature graying of hair, Hypertrichosis, Abnormal eyebrow morphol...	OMIM:619488
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Wide nasal bridge, Sparse eyebrow, Absent nipple, Lacrimal duct aplasia, Small nail, Optic disc c...	OMIM:620186
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Pericardial effusion, Alopecia totalis, Small for gestational age	OMIM:618775
Fryns Microphthalmia Syndrome	Anophthalmia, Microphthalmia	OMIM:600776
Mend Syndrome	Cataract, Failure to thrive, Telecanthus, Upslanted palpebral fissure, Ichthyosis, Microphthalmia	ORPHA:401973
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cataract, Small nail, Failure to thrive, Opacification of the corneal stroma, Renal cyst, Hypopla...	OMIM:614866
Yunis-Varon Syndrome	Aplasia/Hypoplasia of the nails, Cataract, Sparse eyebrow, Bilateral microphthalmos, Increased nu...	ORPHA:3472
Anterior Segment Dysgenesis 6	Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova...	OMIM:617315
Granular Corneal Dystrophy Type Ii	Corneal crystals, Subepithelial corneal opacities, Recurrent corneal erosions, Opacification of t...	ORPHA:98963
Cushing Syndrome Due To Ectopic Acth Secretion	Acne, Pedal edema, Skin ulcer, Striae distensae, Peripheral edema, Ecchymosis, Hirsutism, Increas...	ORPHA:99889
Chromosome 13Q33-Q34 Deletion Syndrome	Wide nasal bridge, Epicanthus, Small for gestational age, Microphthalmia	OMIM:619148
Peroxisome Biogenesis Disorder 1A (Zellweger)	Cataract, Failure to thrive, Opacification of the corneal stroma, Upslanted palpebral fissure, Re...	OMIM:214100
Scheie Syndrome	Rhinitis, Corneal opacity	ORPHA:93474
Dyskeratosis Congenita, X-Linked	Cataract, Alopecia, Premature graying of hair, Pterygium, Pterygium of nails, Ridged nail, Nail d...	OMIM:305000
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Cryptophthalmos, Ankyloblepharon, Microphthalmia	OMIM:123570
Heart And Brain Malformation Syndrome	Polyhydramnios, Wide nasal bridge, Microphthalmia	OMIM:616920
Gm1-Gangliosidosis, Type Iii	Opacification of the corneal stroma	OMIM:230650
Proteus Syndrome	Cataract, Thickened skin, Central heterochromia, Generalized hyperkeratosis, Downslanted palpebra...	ORPHA:744
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Wide nasal bridge, Short palpebral fissure, Hypertrichosis, Retinal coloboma, Almond-shaped palpe...	ORPHA:508498
Beta-Thalassemia Major	Failure to thrive in infancy, Upslanted palpebral fissure, Pallor, Skin ulcer	ORPHA:231214
Polyendocrine-Polyneuropathy Syndrome	Alopecia	ORPHA:453533
Monosomy 9Q22.3	Cataract, Downslanted palpebral fissures, Large for gestational age, Epicanthus, Microphthalmia, ...	ORPHA:77301
Ane Syndrome	Alopecia	ORPHA:157954
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Mucopolysaccharidosis, Type Ivb	Opacification of the corneal stroma, Corneal opacity	OMIM:253010
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Renpenning Syndrome 1	Wide nasal bridge, Cataract, Sparse lateral eyebrow, Telecanthus, Upslanted palpebral fissure, Ep...	OMIM:309500
Granular Corneal Dystrophy Type I	Corneal crystals, Abnormal corneal epithelium morphology, Subepithelial corneal opacities, Recurr...	ORPHA:98962
Mandibuloacral Dysplasia With Type A Lipodystrophy	Alopecia, Acanthosis nigricans, Sparse scalp hair, Onychogryposis	OMIM:248370
Turner Syndrome Due To Structural X Chromosome Anomalies	Webbed neck, Alopecia, Inflammation of the large intestine, Neck pterygia, Abnormal fingernail mo...	ORPHA:99413
Mosaic Monosomy X	Webbed neck, Alopecia, Inflammation of the large intestine, Neck pterygia, Abnormal fingernail mo...	ORPHA:99228
Monosomy X	Webbed neck, Alopecia, Inflammation of the large intestine, Neck pterygia, Abnormal fingernail mo...	ORPHA:99226
Witteveen-Kolk Syndrome	Wide nasal bridge, Cataract, High anterior hairline, Short palpebral fissure, Eczematoid dermatit...	OMIM:613406
Turner Syndrome	Webbed neck, Alopecia, Inflammation of the large intestine, Neck pterygia, Abnormal fingernail mo...	ORPHA:881
Systemic Lupus Erythematosus	Discoid lupus rash, Alopecia, Malar rash, Weight loss, Lupus nephritis, Arthritis, Cheilitis, Ser...	ORPHA:536
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia, Telecanthus, Iris coloboma, Supernumerary nipple	ORPHA:1236
Hypocalcemic Vitamin D-Resistant Rickets	Alopecia	ORPHA:93160
Monosomy 13Q14	Wide nasal bridge, Cataract, Webbed neck, Epicanthus, Ptosis, Microphthalmia, Iris coloboma	ORPHA:1587
Mucolipidosis Ii Alpha/Beta	Sparse eyebrow, Recurrent pneumonia, Failure to thrive, Megalocornea, Recurrent otitis media, Opa...	OMIM:252500
Carpenter Syndrome 1	Microcornea, Obesity, Telecanthus, Epicanthus, Opacification of the corneal stroma	OMIM:201000
Hydrolethalus	Polyhydramnios, Anophthalmia, Microphthalmia	ORPHA:2189
Distal Deletion 19P	Alopecia, Thick eyebrow	ORPHA:96129
Yunis-Varon Syndrome	Aplasia/Hypoplasia of the nails, Cataract, Sparse eyebrow, Absent nipple, Small for gestational a...	OMIM:216340
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Short nose, Microphthalmia	OMIM:300863
Duane-Radial Ray Syndrome	Cataract, Optic disc hypoplasia, Retinal coloboma, Epicanthus, Palpebral fissure narrowing on add...	OMIM:607323
Fanconi Anemia, Complementation Group C	Epicanthus, Anemic pallor, Small for gestational age, Microphthalmia	OMIM:227645
Squamous Cell Carcinoma Of The Anal Canal	Skin ulcer	ORPHA:424019
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Bacterial endocarditis, Skin ulcer, Ecchymosis, Cachexia, Ptosis, Corneal opacity	ORPHA:2072
Atelis Syndrome 2	Short palpebral fissure, Dacryocystocele, Epicanthus, Developmental cataract, Remnants of the hya...	OMIM:620185
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Highly arched eyebrow, Cataract, Short palpebral fissure, Frontal balding, Failure to thrive, Ups...	OMIM:612474
Catastrophic Antiphospholipid Syndrome	Myocarditis, Skin ulcer, Arthritis	ORPHA:464343
Mycophenolate Mofetil Embryopathy	Chorioretinal coloboma, Eyelid coloboma, Hypoplastic toenails, Microphthalmia, Hydrops fetalis, I...	ORPHA:268249
Lcat Deficiency	Corneal opacity	ORPHA:650
Fish-Eye Disease	Corneal opacity	ORPHA:79292
Macular Corneal Dystrophy	Corneal crystals, Punctate opacification of the cornea, Recurrent corneal erosions, Opacification...	ORPHA:98969
Congenital Disorder Of Deglycosylation 1	Decreased body weight, Ptosis, Corneal ulceration, Corneal opacity	OMIM:615273
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia, Hypoplasia of eyelid, Abdominal obesity, Short nose, Optic nerve hypoplasia	OMIM:619321
Williams Syndrome	Megalocornea, Polycystic ovaries, Epicanthus, Posterior embryotoxon, Blepharophimosis, Periorbita...	ORPHA:904
Pierson Syndrome	Cataract, Hypoplasia of the iris, Rieger anomaly, Uveal ectropion, Oligohydramnios, Hypoplasia of...	OMIM:609049
Phace Syndrome	Cataract, Heterochromia iridis, Ptosis, Microphthalmia, Sclerocornea, Lens coloboma, Iris colobom...	ORPHA:42775
Colchicine Poisoning	Myocarditis, Alopecia, Dehydration	ORPHA:31824
Cockayne Syndrome Type 3	Lentiglobus, Cataract, Microcornea, Dry hair, Premature graying of hair, Keratoconjunctivitis sic...	ORPHA:90324
Bloom Syndrome	Pneumonia, Uveitis, Otitis media, Skin rash, Sparse eyelashes, Patchy alopecia, Abdominal obesity...	ORPHA:125
Nance-Horan Syndrome	Posterior Y-sutural cataract, Microcornea, Developmental cataract, Microphthalmia	OMIM:302350
Joubert Syndrome 2	Failure to thrive, Optic disc coloboma, Chorioretinal coloboma, Renal cyst, Microphthalmia	OMIM:608091
Leukocyte Adhesion Deficiency	Pneumonia, Vaginitis, Osteomyelitis, Recurrent aphthous stomatitis, Nail dystrophy, Otitis media,...	ORPHA:2968
Bosma Arhinia Microphthalmia Syndrome	Cataract, Lacrimal duct atresia, Coloboma, Microphthalmia, Aplasia of the nose, Synophrys	OMIM:603457
Leukocyte Adhesion Deficiency, Type I	Osteomyelitis, Chronic mucocutaneous candidiasis, Periodontitis, Skin ulcer	OMIM:116920
Solitary Median Maxillary Central Incisor	Cyclopia, Coloboma, Anophthalmia, Microphthalmia	OMIM:147250
Roberts-Sc Phocomelia Syndrome	Wide nasal bridge, Cataract, Downslanted palpebral fissures, Opacification of the corneal stroma,...	OMIM:268300
Familial Dysautonomia	Heterochromia iridis, Abnormal pupil morphology, Corneal erosion, Corneal opacity	ORPHA:1764
Microcephaly-Micromelia Syndrome	Short palpebral fissure, Oligohydramnios, Microphthalmia	OMIM:251230
Focal Facial Dermal Dysplasia Type Iv	Abnormal epidermal morphology	ORPHA:398189
Peters Plus Syndrome	Cataract, Microcornea, Multicystic kidney dysplasia, Peters anomaly, Webbed neck, Short palpebral...	ORPHA:709
Epidermodysplasia Verruciformis, Susceptibility To, 3	Epidermal acanthosis	OMIM:618267
Exudative Vitreoretinopathy 2, X-Linked	Shallow anterior chamber, Microphthalmia	OMIM:305390
Microphthalmia, Syndromic 2	Microcornea, Thick eyebrow, Anophthalmia, Laterally curved eyebrow, Decreased body weight, Phthis...	OMIM:300166
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Oligohydramnios, Microphthalmia	OMIM:619053
Dyschondrosteosis-Nephritis Syndrome	Corneal opacity	ORPHA:1765
Fanconi Anemia	Cataract, Short palpebral fissure, Oligohydramnios, Astigmatism, Aplasia/Hypoplasia of the iris, ...	ORPHA:84
Larsen Syndrome	Short nail, Shallow orbits, Corneal opacity	OMIM:150250
Woodhouse-Sakati Syndrome	Alopecia, Scaling skin, Aplasia/Hypoplasia of the eyebrow	ORPHA:3464
Holoprosencephaly 7	Wide nasal bridge, Bilateral microphthalmos, Upslanted palpebral fissure, Shallow orbits, Microph...	OMIM:610828
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos, Failure to thrive	OMIM:615085
Norrie Disease	Cataract, Ectopia lentis, Failure to thrive, Hypoplasia of the iris, Abnormal pupil morphology, M...	ORPHA:649
Beta-Thalassemia Intermedia	Pallor, Skin ulcer	ORPHA:231222
Rutherfurd Syndrome	Opacification of the corneal stroma, Corneal dystrophy	OMIM:180900
Microphthalmia, Isolated, With Corectopia	Microphthalmia, Ectopia pupillae	OMIM:156900
Fanconi Anemia, Complementation Group N	Epicanthus, Small for gestational age, Microphthalmia	OMIM:610832
Corneal Endothelial Dystrophy	Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In...	OMIM:217700
Cat Eye Syndrome	Chorioretinal coloboma, Downslanted palpebral fissures, Epicanthus, Microphthalmia, Iris coloboma	OMIM:115470
Fraser Syndrome 2	Microphthalmia, Cryptophthalmos, Oligohydramnios, Low anterior hairline	OMIM:617666
Fanconi Anemia, Complementation Group F	Pneumonia, Polyhydramnios, Failure to thrive, Microphthalmia	OMIM:603467
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Mucopolysaccharidosis Type 4	Corneal opacity	ORPHA:582
Neurofibromatosis Type 1	Cataract, Chorioretinal coloboma, Heterochromia iridis, Lisch nodules, Abnormal eyelid morphology...	ORPHA:636
Microphthalmia, Syndromic 3	Cataract, Optic nerve aplasia, Anophthalmia, Coloboma, Microphthalmia, Sclerocornea, Optic nerve ...	OMIM:206900
Viss Syndrome	Atopic dermatitis, Alopecia, Failure to thrive, Eczematoid dermatitis, Chronic gastritis, Hypereo...	OMIM:619472
Galactosialidosis	Conjunctival telangiectasia, Opacification of the corneal stroma, Nonimmune hydrops fetalis	OMIM:256540
Meckel Syndrome	Cataract, Microcornea, Multicystic kidney dysplasia, Oligohydramnios, Aplasia/Hypoplasia of the i...	ORPHA:564
Ophthalmomandibulomelic Dysplasia	Opacification of the corneal stroma, Megalocornea	OMIM:164900
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Cataract, Sparse hair, Blepharophimosis, Microphthalmia	OMIM:620005
Vascular Ehlers-Danlos Syndrome	Keratoconus, Alopecia, Dermal translucency, Periodontitis, Telecanthus, Abnormal pupil morphology...	ORPHA:286
Fanconi Anemia, Complementation Group E	Anemic pallor, Small for gestational age, Microphthalmia	OMIM:600901
Scheie Syndrome	Corneal opacity	OMIM:607016
Fanconi Anemia, Complementation Group D2	Anemic pallor, Small for gestational age, Blepharophimosis, Microphthalmia	OMIM:227646
Basal Cell Nevus Syndrome 1	Wide nasal bridge, Cataract, Orbital cyst, Microphthalmia, Iris coloboma	OMIM:109400
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Aplasia/Hypoplasia of the nails, Wide nasal bridge, Popliteal pterygium, Epicanthus, Ptosis, Blep...	OMIM:609945
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Failure to thrive, Ascites, Corneal scarring, Acral ulceration, Recurrent corneal erosions, Osteo...	OMIM:256810
Neuropathy, Hereditary Sensory And Autonomic, Type V	Septic arthritis, Osteomyelitis, Acral ulceration, Osteoarthritis	OMIM:608654
Mucopolysaccharidosis Type 6	Chronic otitis media, Opacification of the corneal stroma, Failure to thrive, Sinusitis	ORPHA:583
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cataract, Peters anomaly, Microphthalmia, Buphthalmos, Persistent pupillary membrane	OMIM:613150
Fanconi Anemia, Complementation Group A	Anemic pallor, Small for gestational age, Microphthalmia	OMIM:227650
Branchiooculofacial Syndrome	Cataract, Supernumerary nipple, Premature graying of hair, Hypoplastic fingernail, Telecanthus, R...	OMIM:113620
Trichotillomania	Alopecia	OMIM:613229
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Cataract, Peters anomaly, Remnants of the hyaloid vascular system, Microphthalmia, Optic nerve hy...	OMIM:614643
Neu-Laxova Syndrome 1	Cataract, Generalized edema, Pterygium, Polyhydramnios, Ichthyosis, Absent eyelashes, Microphthal...	OMIM:256520
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Wide nasal bridge, Eczematoid dermatitis, Bilateral microphthalmos, Upslanted palpebral fissure, ...	ORPHA:468631
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Opacification of the corneal stroma, Small for gestational age	OMIM:215250
African Trypanosomiasis	Alopecia, Myelitis, Keratitis, Optic neuritis, Weight loss, Myocarditis, Conjunctivitis, Pruritus...	ORPHA:3385
Meckel Syndrome, Type 5	Renal cyst, Microphthalmia	OMIM:611561
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Renal cyst, Sparse eyebrow, Microphthalmia	OMIM:616300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Cataract, Buphthalmos, Microphthalmia	OMIM:616538
Roberts Syndrome	Cataract, Microphthalmia, Polyhydramnios, Sparse hair, Polycystic kidney dysplasia	ORPHA:3103
Oculo-Palato-Cerebral Syndrome	Aplasia/Hypoplasia of the nails, Cataract, Leukocoria, Remnants of the hyaloid vascular system, M...	ORPHA:2714
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Opacification of the corneal stroma	OMIM:204850
Matthew-Wood Syndrome	Failure to thrive, Anophthalmia, Microphthalmia	ORPHA:2470
Charge Syndrome	Highly arched eyebrow, Webbed neck, Chorioretinal coloboma, Eyelid coloboma, Anophthalmia, Epican...	ORPHA:138
Pseudotrisomy 13 Syndrome	Cyclopia, Upslanted palpebral fissure, Microphthalmia	OMIM:264480
Fanconi Anemia, Complementation Group L	Wide nasal bridge, Webbed neck, Upslanted palpebral fissure, Microphthalmia	OMIM:614083
Steinert Myotonic Dystrophy	Alopecia, Posterior subcapsular cataract, Bilateral ptosis, Astigmatism, Polyhydramnios, Early ba...	ORPHA:273
Phace Association	Optic nerve hypoplasia, Horner syndrome, Developmental cataract, Microphthalmia	OMIM:606519
Mosaic Trisomy 8	Corneal opacity	ORPHA:96061
Simple Cryoglobulinemia	Nephritis, Viral hepatitis, Acral ulceration, Weight loss, Arthritis, Membranoproliferative glome...	ORPHA:91139
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Alopecia, Downslanted palpebral fissures, Thin eyebrow, Loss of eyelashes, Long nose, Sparse hair	ORPHA:2636
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Megalocornea, Pallor, Hypoplasia of the retina, Coloboma, Microphthalmia, Buphthalmos, ...	OMIM:253280
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Opacification of the corneal stroma	OMIM:601356
Mucolipidosis Iii Alpha/Beta	Thickened skin, Opacification of the corneal stroma, Hyperopic astigmatism	OMIM:252600
Meckel Syndrome, Type 2	Renal cyst, Microphthalmia	OMIM:603194
Treacher Collins Syndrome 1	Preauricular hair displacement, Bilateral microphthalmos, Downslanted palpebral fissures, Lower e...	OMIM:154500
Meckel Syndrome 14	Oligohydramnios, Polycystic kidney dysplasia, Increased nuchal translucency, Microphthalmia	OMIM:619879
Oculopalatocerebral Syndrome	Leukocoria, Remnants of the hyaloid vascular system, Microphthalmia	OMIM:257910
Meckel Syndrome, Type 4	Renal cyst, Microphthalmia	OMIM:611134
Van Den Ende-Gupta Syndrome	Sclerocornea, Abnormal eyebrow morphology, Blepharophimosis	OMIM:600920
Microphthalmia With Limb Anomalies	Failure to thrive, Abnormal eyebrow morphology, True anophthalmia, Blepharophimosis, Microphthalmia	ORPHA:1106
Gaucher Disease	Hepatitis, Osteomyelitis, Ichthyosis, Osteoarthritis, Corneal opacity, Hydrops fetalis	ORPHA:355
Aicardi Syndrome	Cataract, Recurrent pneumonia, Sparse lateral eyebrow, Optic disc coloboma, Microphthalmia	OMIM:304050
Focal Dermal Hypoplasia	Ectopia lentis, Chorioretinal coloboma, Supernumerary nipple, Ridged nail, Aniridia, Absent toena...	OMIM:305600
Cockayne Syndrome A	Cataract, Dry hair, Failure to thrive, Dry skin, Opacification of the corneal stroma, Sparse hair	OMIM:216400
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Peters anomaly, Microphthalmia, Sclerocornea, Iris coloboma	OMIM:309801
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Acral ulceration, Paronychia	OMIM:201300
Pallister-Killian Syndrome	Wide nasal bridge, Cataract, Sparse eyebrow, Alopecia, Webbed neck, Supernumerary nipple, Sparse ...	OMIM:601803
Mowat-Wilson Syndrome	Wide nasal bridge, Cataract, Microcornea, Chorioretinal coloboma, Ectopia pupillae, Supernumerary...	OMIM:235730
Vacterl With Hydrocephalus	Polyhydramnios, Microcornea, Anophthalmia, Microphthalmia	ORPHA:3412
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia	OMIM:241410
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Cataract, Microphthalmia	OMIM:253800
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Microphthalmia	OMIM:617914
Meckel Syndrome, Type 1	Webbed neck, Iris coloboma, Oligohydramnios, Ptosis, Microphthalmia, Epicanthus inversus, Polycys...	OMIM:249000
Chromosome 13Q14 Deletion Syndrome	Chorioretinal coloboma, Supernumerary nipple, Epicanthus, Microphthalmia, Iris coloboma	OMIM:613884
Osteogenesis Imperfecta	Cutis laxa, Small for gestational age, Osteoarthritis, Corneal opacity	ORPHA:666
Ring Chromosome 13 Syndrome	Wide nasal bridge, Epicanthus, Alopecia	ORPHA:96176
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Microcornea, Hypoplasia of the iris, Ectopia pupillae, Astigmatism, Corneal neovascularization, P...	OMIM:175780
Hereditary Elliptocytosis	Hydrops fetalis, Skin ulcer	ORPHA:288
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Foot osteomyelitis, Acral ulceration	OMIM:256840
Apolipoprotein A-I Deficiency	Xanthelasma, Opacification of the corneal stroma	ORPHA:425
Aicardi Syndrome	Optic disc coloboma, Sparse lateral eyebrow, Chorioretinal coloboma, Microphthalmia	ORPHA:50
Parkes Weber Syndrome	Skin ulcer, Scaling skin	ORPHA:90307
Pallister-Hall Syndrome	Nail dysplasia, Short nose, Renal cyst, Microphthalmia	OMIM:146510
Adams-Oliver Syndrome 1	Microphthalmia, Alopecia, Small nail, Supernumerary nipple	OMIM:100300
Phakomatosis Pigmentokeratotica	Patchy alopecia, Coloboma, Lymphedema	ORPHA:2874
Microgastria-Limb Reduction Defect Syndrome	Multicystic kidney dysplasia, Failure to thrive, Esophagitis, Anophthalmia, Microphthalmia	ORPHA:2538
Xeroderma Pigmentosum, Complementation Group B	Cataract, Microphthalmia	OMIM:610651
Anterior Segment Dysgenesis 1	Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif...	OMIM:107250
Isolated Arrhinia	Aplasia of the nose, Eyelid coloboma, Microphthalmia	ORPHA:1134
Mucopolysaccharidosis, Type Iva	Recurrent pneumonia, Opacification of the corneal stroma	OMIM:253000
Microphthalmia, Syndromic 9	Wide nasal bridge, Bilateral microphthalmos, Blepharophimosis, Anophthalmia	OMIM:601186
Mucopolysaccharidosis Type 2, Severe Form	Wide nasal bridge, Arthritis, Corneal opacity	ORPHA:217085
Mucopolysaccharidosis Type 2	Wide nasal bridge, Hip osteoarthritis, Corneal opacity	ORPHA:580
Mucopolysaccharidosis Type 2, Attenuated Form	Wide nasal bridge, Arthritis, Corneal opacity	ORPHA:217093
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Cataract, Iris coloboma, Anophthalmia, Microphthalmia	ORPHA:2250
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Hip osteoarthritis, Opacification of the corneal stroma	OMIM:313400
Steinfeld Syndrome	Microphthalmia, Aplasia of the nose, Iris coloboma, Retinal coloboma	OMIM:184705
Fanconi Anemia, Complementation Group R	Microphthalmia	OMIM:617244
Wilson Disease	Sunflower cataract, Edema, Kayser-Fleischer ring, Ascites, Atypical or prolonged hepatitis, Osteo...	OMIM:277900
8Q24.3 Microdeletion Syndrome	Wide nasal bridge, Highly arched eyebrow, Bilateral microphthalmos, Retinal coloboma, Long eyelas...	ORPHA:508488
Pseudoxanthoma Elasticum	Cutis laxa, Civatte bodies	OMIM:264800
Spondyloepiphyseal Dysplasia, Maroteaux Type	Opacification of the corneal stroma	OMIM:184095
Fraser Syndrome	Wide nasal bridge, Lacrimal duct aplasia, Cryptophthalmos, Anophthalmia, Abnormal hair pattern, M...	ORPHA:2052
Holoprosencephaly 9	Absent lacrimal punctum, Anophthalmia, Epicanthus, Ptosis, Microphthalmia, Short nose, Optic nerv...	OMIM:610829
Woodhouse-Sakati Syndrome	Alopecia, Sparse hair, Fine hair	OMIM:241080
Limb Body Wall Complex	Lens subluxation, Wide nasal bridge, Iris coloboma, Corneal opacity	ORPHA:2369
Kenny-Caffey Syndrome, Type 2	Small for gestational age, Developmental cataract, Microphthalmia	OMIM:127000
Microphthalmia, Syndromic 6	Microcornea, Failure to thrive, Anophthalmia, Orbital cyst, Coloboma, Microphthalmia, Sclerocornea	OMIM:607932
Mucolipidosis Iii Gamma	Opacification of the corneal stroma	OMIM:252605
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Cyclopia, Aplasia of the nose, Iris coloboma, Microphthalmia	ORPHA:3186
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Wide nasal bridge, Highly arched eyebrow, Cataract, Microcornea, Multicystic kidney dysplasia, Fa...	ORPHA:261552
Holoprosencephaly-Postaxial Polydactyly Syndrome	Polyhydramnios, Cyclopia, Microphthalmia	ORPHA:2166
Charge Syndrome	Cataract, Webbed neck, Downslanted palpebral fissures, Retinal coloboma, Unilateral microphthalmo...	OMIM:214800
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Low posterior hairline, Microphthalmia	OMIM:617925
Osteoporosis-Pseudoglioma Syndrome	Cataract, Iris atrophy, Phthisis bulbi, Absent anterior chamber of the eye, Microphthalmia	OMIM:259770
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Wide nasal bridge, Cataract, Multicystic kidney dysplasia, Failure to thrive, Retinal coloboma, R...	ORPHA:261537
Townes-Brocks Syndrome	Cataract, Iris coloboma, Failure to thrive, Chorioretinal coloboma, Multiple renal cysts, Blephar...	ORPHA:857
Mowat-Wilson Syndrome	Wide nasal bridge, Cataract, Multicystic kidney dysplasia, Horizontal eyebrow, Retinal coloboma, ...	ORPHA:2152
Lowe Oculocerebrorenal Syndrome	Failure to thrive, Corneal scarring, Dense posterior cortical cataract, Developmental cataract, M...	OMIM:309000
Pallister-Hall Syndrome	Downslanted palpebral fissures, Large for gestational age, Oligohydramnios, Nail dysplasia, Ptosi...	ORPHA:672
Dermochondrocorneal Dystrophy	Anterior cortical cataract, Corneal dystrophy, Subepithelial corneal opacities	OMIM:221800
Microphthalmia, Syndromic 1	Webbed neck, Microcornea, Chorioretinal coloboma, Optic disc coloboma, Recurrent otitis media, Ci...	OMIM:309800
Gaucher Disease, Type Iiic	Opacification of the corneal stroma	OMIM:231005
Tetraamelia Syndrome 1	Cataract, Microphthalmia	OMIM:273395
Holoprosencephaly 2	Chorioretinal coloboma, Remnants of the hyaloid vascular system, Microphthalmia, Cyclopia, Iris c...	OMIM:157170
Adenocarcinoma Of The Anal Canal	Skin ulcer	ORPHA:424016
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Anophthalmia, Upper eyelid coloboma, Ptosis, Blepharophimosis, Micr...	OMIM:164210
Holoprosencephaly 1	Cyclopia, Aplasia of the nose, Microphthalmia	OMIM:236100
Autosomal Dominant Kenny-Caffey Syndrome	Bilateral microphthalmos, Developmental cataract	ORPHA:93325
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Hydromyelia, Multicystic kidney dysplasia, Opacification of the corneal stroma	OMIM:615287
Hydrolethalus Syndrome 1	Polyhydramnios, Microphthalmia	OMIM:236680

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Dsc1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Dsc1.

No publications found that use IMPC mice or data for Dsc1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Dsc1^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Dsc1^{em1(IMPC)Ccpcz}	Exon Deletion	Mice
Dsc1^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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