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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 (1224 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	Abnormal eyebrow morphology, Parakeratosis, Sparse scalp hair, Epidermal acanthosis, Allergic rhi...	ORPHA:90368
Bathing Suit Ichthyosis	Alopecia, Parakeratosis, Epidermal acanthosis, Thickened skin, Palmoplantar hyperkeratosis, Ichth...	ORPHA:100976
Ichthyosis, Congenital, Autosomal Recessive 1	Alopecia, Parakeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis, Ichthyosis, Congenita...	OMIM:242300
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyelashes, Edema, Acantholysis, Sparse eyebrow, Palmoplantar hyperkeratosis, Pal...	OMIM:605676
Keratoderma Hereditarium Mutilans With Ichthyosis	Parakeratosis, Alopecia, Scaling skin on fingertip, Epidermal acanthosis, Hypergranulosis, Honeyc...	ORPHA:79395
Graham Little-Piccardi-Lassueur Syndrome	Sparse scalp hair, Alopecia, Sparse axillary hair, Pruritus, Perifollicular hyperkeratosis, Spars...	ORPHA:505
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Parakeratosis, Epidermal acanthosis, Alopecia totalis, Posterior blepha...	OMIM:300918
Olmsted Syndrome 1	Subungual hyperkeratosis, Parakeratosis, Corneal opacity, Pruritus, Hyperparakeratosis, Periorifi...	OMIM:614594
Erythrokeratodermia Variabilis Et Progressiva 5	Abnormal hair morphology, Hyperkeratosis, Onychogryposis, Palmoplantar hyperkeratosis	OMIM:617756
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Epidermal acanthosis, Angular cheilitis, Acantholysis, Pruritus, Punctate palmoplantar hyperkerat...	OMIM:616295
Ichthyosis, Hystrix-Like, With Deafness	Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, Scarring alopecia of scalp...	OMIM:602540
Olmsted Syndrome 2	Parakeratosis, Epidermal acanthosis, Pruritus, Perioral hyperkeratosis, Cheilitis, Palmoplantar h...	OMIM:619208
Autosomal Dominant Epidermolytic Ichthyosis	Skin ulcer, Weight loss, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmoplan...	ORPHA:312
Ichthyosis, Congenital, Autosomal Recessive 6	Parakeratosis, Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Gene...	OMIM:612281
Pruritic Urticarial Papules And Plaques Of Pregnancy	Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Increased body weight, Facial ery...	ORPHA:64745
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, A...	OMIM:615508
Bazex Syndrome	Parakeratosis, Edema, Pruritus, Yellow nails, Hyperkeratosis, Palmoplantar keratoderma, Nail dyst...	ORPHA:166113
Acrokeratosis Verruciformis Of Hopf	Parakeratosis, Epidermal acanthosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperke...	ORPHA:79151
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Abnormal fingernail morphology, Sparse eyebrow, Hypoplastic toenails, Palmoplantar kera...	ORPHA:2722
Superficial Epidermolytic Ichthyosis	Edema, Acantholysis, Erythema, Palmoplantar keratoderma, Thin skin, Ichthyosis	ORPHA:455
Insulin-Resistance Syndrome Type A	Hyperkeratosis, Generalized hirsutism	ORPHA:2297
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma	Parakeratosis, Hyperconvex nail, Linear arrays of macular hyperkeratoses in flexural areas, Honey...	OMIM:601952
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Parakeratosis, Pruritus, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Nail dy...	OMIM:615821
Netherton Syndrome	Hypernatremic dehydration, Sparse scalp hair, Parakeratosis, Brittle hair, Recurrent skin infecti...	OMIM:256500
Porokeratosis Plantaris Palmaris Et Disseminata	Pruritus, Hyperkeratotic papule, Palmoplantar hyperkeratosis, Porokeratosis	ORPHA:737
Palmoplantar Keratoderma, Norrbotten Recessive Type	Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections	OMIM:244850
Acrokeratosis Verruciformis	Ridged nail, Epidermal acanthosis, Acrokeratosis, Punctate palmoplantar hyperkeratosis, Hyperkera...	OMIM:101900
Pemphigus Foliaceus	Psoriasiform dermatitis, Acantholysis, Pruritus, Pustule, Crusting erythematous dermatitis, Eryth...	ORPHA:79481
Congenital Ichthyosiform Erythroderma	Alopecia, Keratitis, Pruritus, Corneal erosion, Ichthyosis, Palmoplantar keratoderma, Erythroderm...	ORPHA:79394
Ulerythema Ophryogenesis	Acne, Dry skin, Facial erythema, Follicular hyperkeratosis, Hyperkeratotic papule, Contact dermat...	ORPHA:3406
Ichthyosis, Annular Epidermolytic, 1	Abnormal hair morphology, Erythema, Hyperparakeratosis, Palmoplantar hyperkeratosis, Congenital b...	OMIM:607602
Ichthyosis With Confetti	Pruritus, Hypertrichosis, Palmoplantar hyperkeratosis, Ichthyosis, Hypoplastic nipples, Scaling s...	OMIM:609165
Erythrokeratodermia Variabilis	Alopecia, Cataract, Skin rash, Corneal opacity, Abnormal hair morphology, Erythema, Patchy palmop...	ORPHA:317
Palmoplantar Keratoderma And Congenital Alopecia 2	Alopecia totalis, Palmoplantar hyperkeratosis, Facial erythema, Developmental cataract, Hyperkera...	OMIM:212360
Anonychia With Flexural Pigmentation	Abnormal hair morphology, Hyperkeratosis, Alopecia of scalp, Follicular hyperkeratosis, Anonychia	ORPHA:69125
Vulvovaginal Gingival Syndrome	Ridged nail, Parakeratosis, Epidermal acanthosis, Pruritus, Erythema	ORPHA:83453
Psoriasis 2	Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Hyperkeratosis, Scaling skin	OMIM:602723
Ichthyosis, Lamellar, Autosomal Dominant	Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:146750
Congenital Panfollicular Nevus	Pruritus, Hyperkeratosis	ORPHA:139414
Classic Mycosis Fungoides	Alopecia, Skin rash, Eczema, Edema, Abnormal eyelid morphology, Pruritus, Erythema, Skin ulcer, H...	ORPHA:2584
Ichthyosis Hystrix Of Curth-Macklin	Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Nail dystrophy, I...	ORPHA:79503
Lamellar Ichthyosis	Pruritus, Lack of skin elasticity, Dehydration, Hyperkeratosis, Ichthyosis, Sparse hair, Erythrod...	ORPHA:313
Erythrokeratodermia Variabilis Et Progressiva 6	Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate	OMIM:618531
Keratosis, Focal Palmoplantar And Gingival	Circumungual hyperkeratosis, Subungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re...	OMIM:148730
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Parakeratosis, Pruritus, Palmoplantar hyperkeratosis, Nail dystrophy, Erythema migrans, Skin vesicle	ORPHA:158681
Ichthyosis, Congenital, Autosomal Recessive 5	Parakeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosifor...	OMIM:604777
Hidrotic Ectodermal Dysplasia	Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p...	ORPHA:189
Porokeratosis Of Mibelli	Pruritus, Hyperkeratosis, Porokeratosis	ORPHA:735
Acute Generalized Exanthematous Pustulosis	Predominantly dermal neutrophilic infiltrate, Eosinophilia, Acantholysis, Pruritus, Pustule, Faci...	ORPHA:293173
Pemphigus Vulgaris	Recurrent cutaneous abscess formation, Weight loss, Acantholysis	ORPHA:704
Ichthyosis, Congenital, Autosomal Recessive 13	Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Ichthyosis	OMIM:617574
Iga Pemphigus	Neutrophilic infiltration of the skin, Eosinophilia, Acantholysis, Pruritus, Pustule, Ulcerative ...	ORPHA:555905
Peeling Skin Syndrome 6	Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin	OMIM:618084
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Ridged nail, Abnormal fingernail morphology, Pruritus, Palmoplantar hyperkeratosis, Hyperkeratosi...	ORPHA:89838
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Parakeratosis, Alopecia, Sparse eyelashes, Thick hair, Epidermal acanthosis, Pruritus, Sparse eye...	OMIM:607626
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1	Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ...	OMIM:613000
Infantile Digital Fibromatosis	Hyperkeratosis, Parakeratosis, Epidermal acanthosis	ORPHA:199267
Parana Hard Skin Syndrome	Hyperkeratosis, Generalized hirsutism, Thickened skin	ORPHA:2812
Psoriasis 14, Pustular	Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Cholangitis, Pustule, Erythema, Oli...	OMIM:614204
Verrucous Hemangioma	Inflammatory abnormality of the skin, Hyperkeratotic papule, Epidermal acanthosis	ORPHA:464318
Epidermolysis Bullosa Simplex 1C, Localized	Hyperkeratosis	OMIM:131800
Palmoplantar Keratoderma, Nagashima Type	Orthokeratotic hyperkeratosis, Epidermal acanthosis, Hypergranulosis, Palmoplantar hyperkeratosis	OMIM:615598
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl...	ORPHA:284426
Familial Benign Chronic Pemphigus	Skin vesicle, Hyperkeratosis, Erythema, Acantholysis	ORPHA:2841
Familial Reactive Perforating Collagenosis	Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Abnormal fingern...	ORPHA:79147
Aquagenic Palmoplantar Keratoderma	Edema, Excessive skin wrinkling on dorsum of hands and fingers, Atopic dermatitis, Orthokeratotic...	ORPHA:498359
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosi...	OMIM:173200
Naxos Disease	Subungual hyperkeratosis, Curly hair, Epidermal acanthosis, Acantholysis, Sparse eyebrow, Diffuse...	OMIM:601214
Hypotrichosis 6	Brittle hair, Sparse eyelashes, Pruritus, Sparse eyebrow, Erythema, Follicular hyperkeratosis, Sp...	OMIM:607903
Ichthyosis Prematurity Syndrome	Epidermal acanthosis, Allergic rhinitis, Polyhydramnios, Pruritus, Generalized ichthyosis, Follic...	OMIM:608649
Epidermolysis Bullosa, Lethal Acantholytic	Alopecia totalis, Acantholysis, Absent fingernail, Anonychia, Alopecia universalis	OMIM:609638
Lethal Acantholytic Erosive Disorder	Absent eyebrow, Acantholysis, Absent eyelashes, Oligohydramnios, Absent toenail, Absent fingernai...	ORPHA:158687
Ichthyosis, Congenital, Autosomal Recessive 10	Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General...	OMIM:615024
Epidermolytic Hyperkeratosis 2	Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato...	OMIM:620150
Porokeratosis 3, Multiple Types	Parakeratosis, Porokeratosis, Nail dystrophy	OMIM:175900
Rothmund-Thomson Syndrome, Type 1	Absent eyebrow, Thin nail, Absent eyelashes, Hyperkeratosis, Sparse hair, Nail dystrophy, Recurre...	OMIM:618625
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Pruritus, Alopecia, Plantar hyperkeratosis, Nail dystrophy	OMIM:616487
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Hyperkeratosis, Epidermal acanthosis	OMIM:615028
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Congenital onychodystrophy, Eczema, Absent eyelashes, Gen...	ORPHA:2890
Schopf-Schulz-Passarge Syndrome	Ridged nail, Narrow nail, Thin nail, Poroma, Multiple eyelid margin cysts, Hyperkeratosis, Palmop...	OMIM:224750
White Sponge Nevus 2	Hyperparakeratosis, Epidermal acanthosis, Edema	OMIM:615785
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Eczema, Pruritus, Pustule, Thickened skin, Ichthyosis, Palmoplantar ker...	ORPHA:2897
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Sparse eyelashes, Corneal dystrophy, Keratitis, Sparse eyebrow, Scarring alopecia of scalp, Facia...	OMIM:308800
Palmoplantar Carcinoma, Multiple Self-Healing	Parakeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Nail dystrophy, Follicular hyperke...	OMIM:615225
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis	ORPHA:86923
Epidermolysis Bullosa Dystrophica, Pretibial	Pruritus, Hyperkeratosis, Nail dystrophy	OMIM:131850
Darier-White Disease	Ridged nail, Acrokeratosis, Acantholysis, Pruritus, Subungual hyperkeratotic fragments	OMIM:124200
Ichthyosis, Congenital, Autosomal Recessive 11	Curly hair, Brittle hair, Sparse eyelashes, Corneal opacity, Curly eyelashes, Pruritus, Sparse ey...	OMIM:602400
Palmoplantar Keratoderma, Punctate Type Iii	Hyperkeratosis, Acrokeratosis	OMIM:101850
Dermatoleukodystrophy	Hyperkeratosis, Thickened skin	ORPHA:1659
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Diffuse palmoplantar hyperkeratosis, Onychogryposis of toenails, Alopecia of scalp, Spa...	OMIM:617294
Lichen Planopilaris	Alopecia, Abnormal fingernail morphology, Pruritus, Hepatitis, Skin ulcer, Hyperkeratosis, Onycho...	ORPHA:525
Palmoplantar Keratoderma-Deafness Syndrome	Hyperkeratosis, Palmoplantar keratoderma	ORPHA:2202
Erythrokeratodermia Variabilis Et Progressiva 4	Epidermal acanthosis, Erythema, Palmoplantar hyperkeratosis, Hyperkeratosis, Congenital nonbullou...	OMIM:617526
Reticulate Acropigmentation Of Kitamura	Hyperkeratosis	OMIM:615537
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Cataract, Abnormal eyelash morpholo...	ORPHA:573
Ichthyosis, Congenital, Autosomal Recessive 14	Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin, Congenital nonbu...	OMIM:617571
Acquired Ichthyosis	Recurrent skin infections, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyos...	ORPHA:454
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Plantar hyperkeratosis, Brittle hair, Epidermal hyperkeratosis, Sparse eyebrow, Leukony...	OMIM:104100
Vohwinkel Syndrome, Variant Form	Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat...	OMIM:604117
Trichothiodystrophy 1, Photosensitive	Brittle hair, Trichoschisis, Small for gestational age, Cataract, Short nose, Fine hair, Microcor...	OMIM:601675
Moynahan Syndrome	Sparse hair, Hyperkeratosis, Alopecia, Cachexia	ORPHA:2574
Ichthyosis Hystrix, Lambert Type	Hyperkeratosis, Orthokeratotic hyperkeratosis	OMIM:146600
Erythrokeratodermia Variabilis Et Progressiva 1	Epidermal acanthosis, Hypergranulosis, Patchy palmoplantar hyperkeratosis, Erythroderma, Generali...	OMIM:133200
Dowling-Degos Disease 2	Hyperkeratotic papule, Follicular hyperkeratosis	OMIM:615327
Hyperkeratosis-Hyperpigmentation Syndrome	Hyperkeratosis	ORPHA:1336
Epidermolytic Hyperkeratosis 1	Epidermal acanthosis, Erythroderma, Palmoplantar hyperkeratosis, Scaling skin, Congenital bullous...	OMIM:113800
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Cataract, Sparse eyelashes, Keratitis, Sparse eyebrow, Scarring alopecia of scalp, Faci...	OMIM:612843
Congenital Disorder Of Glycosylation, Type Iq	Cataract, Eczema, Dry skin, Cutis laxa, Hyperkeratosis, Coloboma, Ichthyosis, Microphthalmia, Fai...	OMIM:612379
Sézary Syndrome	Alopecia, Edema, Pruritus, Palmoplantar keratoderma, Nail dystrophy, Erythroderma, Dry skin, Ectr...	ORPHA:3162
Angioma Serpiginosum, X-Linked	Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair	OMIM:300652
Pemphigus Erythematosus	Malar rash, Acantholysis	ORPHA:79480
Porokeratosis 7, Multiple Types	Parakeratosis, Porokeratosis	OMIM:614714
Porokeratosis 1, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175800
Erythrokeratoderma ''En Cocardes''	Hyperkeratosis	ORPHA:315
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Plantar hyperkeratosis, Pruritus, Hyperkeratosis, Nail dystrophy, Palmar hyperkeratosis	ORPHA:79399
Ichthyosis, Congenital, Autosomal Recessive 9	Epidermal acanthosis, Hypergranulosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythr...	OMIM:615023
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Congenital alopecia totalis, Epidermal acanthosis, Sparse eyebrow, Dry skin, Absent pubic hair, C...	ORPHA:2269
Lipoid Proteinosis Of Urbach And Wiethe	Hyperkeratosis, Patchy alopecia, Reduced epidermal extracellular matrix protein 1 protein express...	OMIM:247100
Warty Dyskeratoma	Abnormal fingernail morphology, Acrokeratosis, Epidermal thickening, Acantholysis	ORPHA:69745
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	OMIM:144150
Chromomycosis	Predominantly lower limb lymphedema, Edema, Lymphedema, Keratitis, Pruritus, Hyperparakeratosis, ...	ORPHA:182
Angioma Serpiginosum, Autosomal Dominant	Hyperkeratosis	OMIM:106050
Papillomatosis, Confluent And Reticulated	Hyperkeratosis	OMIM:167900
Harlequin Ichthyosis	Cataract, Erythroderma, Dehydration, Hyperkeratosis, Congenital ichthyosiform erythroderma, Ichth...	ORPHA:457
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Hyperkeratosis, Parakeratosis	OMIM:618339
Chilblain Lupus	Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Skin ulcer, Hyperkeratosis, ...	ORPHA:90280
Intellectual Developmental Disorder, Fra12A Type	Hyperkeratosis, Erythroderma	OMIM:136630
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Parakeratosis, Epidermal acanthosis, Xerostomia, Hyperkeratosis, Ichthyosis, Acanthosis nigricans...	OMIM:618527
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Abnormal fingernail morphology, Corneal dystrophy, Sclerocornea, Skin ulcer, Fine hair,...	ORPHA:1806
Ichthyosis, Congenital, Autosomal Recessive 7	Epidermal acanthosis, Hypergranulosis, Erythroderma, Palmoplantar keratoderma, Ichthyosis	OMIM:615022
Ichthyosis, Congenital, Autosomal Recessive 2	Alopecia, Epidermal acanthosis, Thin nail, Hypergranulosis, Abnormal hair morphology, Erythema, H...	OMIM:242100
Hypotrichosis And Recurrent Skin Vesicles	Sparse scalp hair, Sparse eyelashes, Angular cheilitis, Sparse axillary hair, Epidermal acanthosi...	OMIM:613102
Toxic Epidermal Necrolysis	Entropion, Acantholysis, Corneal erosion, Erythema, Skin ulcer, Weight loss, Conjunctivitis, Panc...	ORPHA:537
Non-Epidermolytic Palmoplantar Keratoderma	Pruritus, Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer	ORPHA:2337
Flynn-Aird Syndrome	Hyperkeratosis, Alopecia, Alopecia of scalp, Cataract	OMIM:136300
Atrophoderma Vermiculata	Pruritus, Abnormal epidermal morphology, Erythema, Follicular hyperkeratosis, Hyperkeratotic papule	ORPHA:79100
Mal De Meleda	Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Ep...	ORPHA:87503
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Alopecia, Plantar hyperkeratosis, Nail dystrophy, Nail dysplasia, Palmar hyperkeratosis, Hyperker...	ORPHA:79397
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Keratoconus, Alopecia, Ichthyosis, Palmoplantar keratoderma, Conjunctivitis, Erythroderma, Sparse...	OMIM:242150
Clouston Syndrome	Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Cataract, Sparse e...	OMIM:129500
Noonan Syndrome 8	Curly hair, Epicanthus, Eczema, Polyhydramnios, Large for gestational age, Hyperkeratosis, Webbed...	OMIM:615355
Keratosis Palmoplantaris Striata Ii	Palmoplantar keratoderma, Epidermal acanthosis	OMIM:612908
Lichen Planus Pemphigoides	Pruritus, Hyperkeratosis, Conjunctivitis, Skin vesicle, Blepharitis, Abnormality of the nail	ORPHA:254478
Stevens-Johnson Syndrome	Entropion, Acantholysis, Corneal erosion, Erythema, Weight loss, Conjunctivitis, Pancreatitis	ORPHA:36426
Epidermolytic Palmoplantar Keratoderma	Abnormal fingernail morphology, Epidermal acanthosis, Hypergranulosis, Epidermal hyperkeratosis, ...	ORPHA:2199
Alopecia Universalis Congenita	Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis	OMIM:203655
Elastosis Perforans Serpiginosa	Hyperkeratotic papule, Crusting erythematous dermatitis, Epidermal acanthosis, Cutis laxa	ORPHA:79148
Hypotrichosis Simplex	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair	ORPHA:55654
Congenital Disorder Of Glycosylation, Type If	Dry skin, Renal cortical cysts, Hyperkeratosis, Scaling skin, Erythroderma, Failure to thrive	OMIM:609180
Monilethrix	Alopecia, Brittle hair, Abnormality of hair texture, Perifollicular hyperkeratosis, Nail dystroph...	OMIM:158000
Hypotrichosis 4	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair	OMIM:146550
Tylosis With Esophageal Cancer	Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis	OMIM:148500
Kerion Celsi	Alopecia, Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent ...	ORPHA:499
Trichothiodystrophy 7, Nonphotosensitive	Brittle hair, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkerat...	OMIM:618546
Peeling Skin Syndrome 4	Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Nail dystrophy, Ich...	OMIM:607936
Hyperkeratosis Lenticularis Perstans	Pruritus, Hyperkeratosis lenticularis perstans, Skin ulcer	ORPHA:409
Recessive X-Linked Ichthyosis	Hyperkeratosis, Dry skin, Opacification of the corneal stroma, Ichthyosis	ORPHA:461
Keratoderma Hereditarium Mutilans	Alopecia, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Ichthyosis, Abnormal toenail mor...	ORPHA:494
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Sinusitis, Slow-growing hair, Eczema, Trichorrhexis nodosa, Xerostomia, D...	ORPHA:238468
Netherton Syndrome	Sparse scalp hair, Sparse eyelashes, Skin rash, Eczema, Sparse eyebrow, Abnormal hair morphology,...	ORPHA:634
Hypotrichosis 11	Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Absent axillary hair, Sparse hair,...	OMIM:615059
Peeling Skin Syndrome 5	Hyperkeratosis, Epidermal acanthosis, Scaling skin	OMIM:617115
X-Linked Dominant Chondrodysplasia Punctata	Cataract, Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Mi...	ORPHA:35173
Leopard Syndrome 3	Curly hair, Epidermal hyperkeratosis, Low posterior hairline, Hyperkeratosis, Webbed neck, Palpeb...	OMIM:613707
Congenital Disorder Of Glycosylation, Type Im	Inflammatory abnormality of the skin, Alopecia, Sparse eyelashes, Sparse eyebrow, Dry skin, Hyper...	OMIM:610768
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke...	OMIM:613736
Neonatal Lupus Erythematosus	Parakeratosis, Skin rash, Maculopapular exanthema, Hyperkeratosis, Malar rash	ORPHA:398124
Dystrophic Epidermolysis Bullosa Pruriginosa	Pruritus, Hyperkeratosis, Abnormal toenail morphology, Nail dystrophy	ORPHA:89843
Ectodermal Dysplasia-Syndactyly Syndrome 1	Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h...	OMIM:613573
Hidrotic Ectodermal Dysplasia, Halal Type	Absent eyebrow, Sparse scalp hair, Abnormal fingernail morphology, Supernumerary nipple, Absent e...	ORPHA:1809
Alopecia Universalis	Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis	ORPHA:701
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia, Perifolliculitis, Alopecia of scalp	OMIM:260910
Erythrokeratodermia Variabilis Et Progressiva 3	Epidermal acanthosis, Hypergranulosis, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar kerato...	OMIM:617525
Omenn Syndrome	Alopecia, Pneumonia, Eosinophilia, Edema, Pruritus, Thickened skin, Thyroiditis, Dry skin, Erythr...	ORPHA:39041
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Microcornea, Comedonal acne, Iris coloboma, Follicular hyperkeratosis	OMIM:615147
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Alopecia, Palmoplantar keratoderma, Fingernail dysplasia, Sparse hair, Onychogryposis of fingerna...	ORPHA:2251
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Epidermal acanthosis, Hypergranulosis, Yellow nails, Palmoplantar hyperkeratosis, Orthokeratotic ...	OMIM:148700
Sjögren-Larsson Syndrome	Corneal erosion, Erythema, Hyperkeratosis, Ichthyosis, Dry skin, Inflammatory abnormality of the eye	ORPHA:816
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Symblepharon, Acant...	ORPHA:95455
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Absent eyebrow, Epicanthus, Membranoproliferative glomerulonephritis, Sparse eyelashes, Palpebral...	OMIM:137940
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Sparse scalp hair, Sparse eyelashes, Eczema, Slow-growing hair, Pruritus, Palmoplantar keratoderm...	OMIM:618535
Proteus Syndrome	Epidermal acanthosis, Hyperkeratosis, Limbal dermoid, Downslanted palpebral fissures, Ptosis	OMIM:176920
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Follicular hyperkeratosis, Bitot spots of the conjunctiva	OMIM:277350
Krt1-Related Diffuse Nonepidermolytic Keratoderma	Concave nail, Diffuse palmoplantar hyperkeratosis, Nonepidermolytic palmoplantar hyperkeratosis, ...	ORPHA:530838
Darier Disease	Acrokeratosis, Pruritus, Abnormal hair morphology, Thickened skin, Palmoplantar keratoderma, Skin...	ORPHA:218
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Cataract, Alopecia totalis, Lack of skin elasticity, Palmoplantar keratoderma, Nail dystrophy	ORPHA:1366
Ramon Syndrome	Hyperkeratosis, Failure to thrive, Abnormal anterior chamber morphology, Generalized hirsutism	ORPHA:3019
Ichthyosis Hystrix, Curth-Macklin Type	Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin	OMIM:146590
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Recurrent bacterial skin infections, Sparse eyelashes, Trichiasis, Keratitis, Sparse eyebrow, Cor...	OMIM:148210
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Subungual hyperkeratosis, Eczema, Trichorrhexis nodosa, Scarring alopecia of scalp, Hypoplastic s...	OMIM:617337
Candidiasis, Familial, 1	Alopecia, Chronic mucocutaneous candidiasis	OMIM:114580
Alopecia Areata 1	Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis	OMIM:104000
Prolidase Deficiency	Abnormal fingernail morphology, Pruritus, Crusting erythematous dermatitis, Low anterior hairline...	ORPHA:742
Dowling-Degos Disease 4	Pruritus, Epidermal acanthosis, Hypergranulosis	OMIM:615696
Alopecia Areata 2	Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis	OMIM:610753
Kid Syndrome	Angular cheilitis, Posterior blepharitis, Scarring alopecia of scalp, Recurrent cutaneous fungal ...	ORPHA:477
Linear Verrucous Nevus Syndrome	Sparse scalp hair, Cataract, Hyperkeratosis, Abnormal cornea morphology, Iris coloboma, Aplasia/H...	ORPHA:2611
Hypotrichosis With Juvenile Macular Degeneration	Sparse scalp hair, Brittle hair, Fine hair, Hyperkeratosis, Pili torti	ORPHA:1573
Ichthyosis, Congenital, Autosomal Recessive 8	Epidermal acanthosis, Hypergranulosis, Erythema, Hyperkeratosis, Ichthyosis, Orthokeratosis	OMIM:613943
Hereditary Mucoepithelial Dysplasia	Alopecia, Cataract, Corneal dystrophy, Fine hair, Hyperkeratosis, Sparse hair	ORPHA:1839
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Sparse scalp hair, Abnormal eyelash morphology, Periodontitis, Sparse body hair, Alopecia univers...	ORPHA:1008
Schöpf-Schulz-Passarge Syndrome	Sparse hair, Alopecia, Palmoplantar keratoderma, Aplasia/Hypoplasia of the eyebrow	ORPHA:50944
Seborrhea-Like Dermatitis With Psoriasiform Elements	Hyperkeratosis, Epidermal acanthosis, Seborrheic dermatitis	OMIM:610227
Ectodermal Dysplasia-Syndactyly Syndrome 2	Sparse hair, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ichthyosifor...	OMIM:613576
Parc Syndrome	Absent eyelashes, Absent eyebrow, Alopecia	OMIM:600331
Pachyonychia Congenita	Alopecia, Angular cheilitis, Paronychia, Onychogryposis of toenails, Linear arrays of macular hyp...	ORPHA:2309
Idiopathic Trachyonychia	Ridged nail, Thin nail, Concave nail, Atopic dermatitis, Nail pits, Patchy alopecia, Nail dystrop...	ORPHA:79153
Peeling Skin Syndrome 1	Brittle hair, Eosinophilia, Pruritus, Onycholysis, Nail dystrophy, Scaling skin, Erythroderma	OMIM:270300
Oliver-Mcfarlane Syndrome	Alopecia, Central heterochromia, Small for gestational age, Long eyebrows, Long eyelashes, Sparse...	OMIM:275400
Costello Syndrome	Deep-set nails, Keratoconus, Epicanthus, Failure to thrive in infancy, Redundant skin, Abnormal f...	ORPHA:3071
Trichodysplasia-Xeroderma Syndrome	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod...	ORPHA:3361
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Cataract, Hypopigmentation of hair, Corneal opacity, Aplasia/Hypoplasia of the iris, Pe...	ORPHA:1067
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Epicanthus, Eczema, Epide...	ORPHA:83617
Ichthyosis, Congenital, Autosomal Recessive 3	Erythema, Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythrode...	OMIM:606545
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Microphthalmia, Corneal opacity, Large for gestational age	ORPHA:2432
Odontoonychodermal Dysplasia	Ridged nail, Dry hair, Palmoplantar hyperkeratosis, Dystrophic fingernails, Thin nail, Sparse eye...	OMIM:257980
Poikiloderma With Neutropenia	Plantar hyperkeratosis, Skin rash, Edema, Sparse eyebrow, Recurrent pneumonia, Nasolacrimal duct ...	OMIM:604173
Focal Palmoplantar And Gingival Keratoderma	Subungual hyperkeratosis, Abnormal fingernail morphology, Focal friction-related palmoplantar hyp...	ORPHA:2200
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Parakeratosis, Alopecia, Epidermal acanthosis, Erythema, Hyperkeratosis, Congenital ichthyosiform...	OMIM:308050
Linear Atrophoderma Of Moulin	Pruritus, Scleroderma, Inflammatory abnormality of the skin	ORPHA:140933
Incontinentia Pigmenti	Ridged nail, Uveitis, Coarse hair, Pallor, Sparse hair, Atrophic, patchy alopecia, Hypoplasia of ...	OMIM:308300
Quinquaud Folliculitis Decalvans	Recurrent skin infections, Pustule, Scarring alopecia of scalp, Abnormal hair morphology, Erythem...	ORPHA:346
Ectodermal Dysplasia/Skin Fragility Syndrome	Absent eyebrow, Absent eyelashes, Palmoplantar hyperkeratosis, Nail dystrophy, Scaling skin, Spar...	OMIM:604536
Dermatitis, Atopic	Keratoconus, Cataract, Recurrent skin infections, Allergic rhinitis, Eczema, Pruritus, Atopic der...	OMIM:603165
Lipoid Proteinosis	Acne, Pustule, Thickened skin, Hyperkeratosis, Alopecia of scalp	ORPHA:530
Neuropathy, Hereditary Sensory, Type If	Hyperkeratosis, Osteomyelitis	OMIM:615632
Lymphatic Malformation 4	Hyperkeratosis, Toenail dysplasia, Pedal edema, Lymphedema	OMIM:615907
Gómez-López-Hernández Syndrome	Telecanthus, Alopecia of scalp, Toenail dysplasia, Corneal opacity	ORPHA:1532
Mucoepithelial Dysplasia, Hereditary	Alopecia, Cataract, Pneumonia, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous candidias...	OMIM:158310
Ectodermal Dysplasia 6, Hair/Nail Type	Sparse hair, Alopecia, Thin toenail, Dystrophic toenail	OMIM:614928
Ichthyosis, Annular Epidermolytic, 2	Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthok...	OMIM:620148
Spinocerebellar Ataxia 34	Epidermal hyperkeratosis, Erythroderma	OMIM:133190
Congenital Lethal Erythroderma	Congenital exfoliative erythroderma, Failure to thrive, Dry skin, Ichthyosis	ORPHA:1954
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Ichthyosis follicularis, Atrichia, Scaling skin, Periungual erythema, Dystrophic fingernails, Sub...	OMIM:308205
Chondrodysplasia Punctata 2, X-Linked Dominant	Cataract, Sparse eyelashes, Edema, Polyhydramnios, Sparse eyebrow, Congenital ichthyosiform eryth...	OMIM:302960
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Conjunctival telangiectasia, Alopecia, Dry skin, Palmoplantar keratoderma, Nail dystrophy, Scalin...	OMIM:618373
Meige Disease	Recurrent bacterial skin infections, Predominantly lower limb lymphedema, Recurrent skin infectio...	ORPHA:90186
Cardiofaciocutaneous Syndrome 3	Hyperkeratosis, Failure to thrive, Curly hair, Webbed neck	OMIM:615279
Milroy Disease	Epicanthus, Predominantly lower limb lymphedema, Lymphedema, Erysipelas, Pedal edema, Hyperkerato...	ORPHA:79452
Dowling-Degos Disease	Abnormal fingernail morphology, Pruritus, Arthritis, Hyperkeratosis, Skin vesicle, Hyperkeratotic...	ORPHA:79145
Autoinflammation With Arthritis And Dyskeratosis	Epidermal acanthosis, Hypereosinophilia, Thyroiditis, Uveitis, Palmoplantar hyperkeratosis, Dry s...	OMIM:617388
Inflammatory Skin And Bowel Disease, Neonatal, 1	Perianal erythema, Pustule, Paronychia, Perioral erythema, Erythroderma, Failure to thrive, Bleph...	OMIM:614328
Pseudoprogeria Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Thin skin, Decreased body weight, Spa...	ORPHA:2985
De Sanctis-Cacchione Syndrome	Parakeratosis, Entropion, Keratitis, Conjunctivitis, Ectropion	OMIM:278800
Rhizomelic Chondrodysplasia Punctata	Alopecia, Epicanthus, Cataract, Ichthyosis, Dry skin, Sparse body hair	ORPHA:177
Amelo-Onycho-Hypohidrotic Syndrome	Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Hyperkeratosis, Onycholysis, Dry...	ORPHA:1028
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia, Coloboma, Orbital cyst, Microcornea	OMIM:251505
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Failure to thrive in infancy, Recurrent pneumonia, Bronchiectasis, Corneal scarring, Hyperkeratos...	OMIM:301220
Alopecia-Intellectual Disability Syndrome 4	Ichthyosis, Alopecia, Erythroderma	OMIM:618840
Nicolaides-Baraitser Syndrome	Alopecia, Eczema, Curly eyelashes, Highly arched eyebrow, Abnormal hair pattern, Excessive wrinkl...	ORPHA:3051
Ichthyosis Vulgaris	Absent keratohyalin granules, Eczematoid dermatitis, Dry skin, Ichthyosis	OMIM:146700
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Sparse hair, Hyperkeratosis, Coarse hair, Brittle hair	ORPHA:1883
Cole Disease	Epidermal acanthosis, Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palm...	OMIM:615522
Alopecia Totalis	Alopecia, Alopecia of scalp	ORPHA:700
Acrodermatitis Enteropathica	Ridged nail, Abnormal eyebrow morphology, Alopecia, Abnormal eyelid morphology, Pustule, Paronych...	ORPHA:37
Alopecia-Intellectual Disability Syndrome 1	Alopecia, Alopecia universalis	OMIM:203650
Epidermolysis Bullosa, Junctional 1A, Intermediate	Plantar hyperkeratosis, Patchy alopecia, Nail dystrophy, Fragile nails	OMIM:226650
Chronic Mucocutaneous Candidiasis	Skin rash, Abnormal fingernail morphology, Pruritus, Erythema, Cheilitis, Hepatitis, Skin ulcer, ...	ORPHA:1334
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Alopecia, Osteomyelitis, Recurrent skin infections, Eczema, Eosinophilia, Pruritus, Recurrent pne...	OMIM:618282
Winchester Syndrome	Corneal opacity, Hirsutism	OMIM:277950
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Erythema, Hyperkeratosis, Scaling skin, Congenital nonbullous ichthyosiform erythroderma, Ichthyo...	OMIM:614457
Cardiofaciocutaneous Syndrome	Brittle hair, Redundant skin, Lymphedema, Sparse hair, Dystrophic fingernails, Abnormal eyelash m...	ORPHA:1340
Arthrogryposis And Ectodermal Dysplasia	Absent eyebrow, Entropion, Trichiasis, Hyperkeratosis, Narrow palpebral fissure, Nuclear cataract...	OMIM:601701
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Pachydermoperiostosis	Abnormal hair quantity, Osteomyelitis, Acne, Abnormal fingernail morphology, Abnormal hair patter...	ORPHA:2796
Transgrediens Et Progrediens Palmoplantar Keratoderma	Recurrent bacterial skin infections, Plantar hyperkeratosis, Angular cheilitis, Hyperconvex nail,...	ORPHA:495
Ectodermal Dysplasia/Short Stature Syndrome	Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Anonychia	OMIM:616029
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Redundant skin, Seborrheic dermatitis, Erythema, Palmoplantar hyperkeratosis, Arthritis, Eczemato...	OMIM:259100
Subacute Cutaneous Lupus Erythematosus	Psoriasiform lesion, Discoid lupus rash, Cheilitis, Hyperkeratosis, Malar rash	ORPHA:163525
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Microcornea, Follicular hyperkeratosis	ORPHA:300179
Warburg Micro Syndrome 1	Ptosis, Wide nasal bridge, Developmental cataract, Microcornea, Facial hypertrichosis, Microphtha...	OMIM:600118
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Alopecia, Abnormal fingernail morphology, Thickened skin, Erythema, Skin ulcer, Palmoplantar kera...	ORPHA:659
Syndromic Recessive X-Linked Ichthyosis	Hyperkeratosis, Corneal opacity, Ichthyosis	ORPHA:281090
Incontinentia Pigmenti	Uveitis, Abnormal toenail morphology, Infectious encephalitis, Abnormality of the nail, Alopecia,...	ORPHA:464
Hereditary Sensory And Autonomic Neuropathy Type 1	Hyperkeratosis, Osteomyelitis, Penetrating foot ulcers, Skin ulcer	ORPHA:36386
Ectodermal Dysplasia 4, Hair/Nail Type	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod...	OMIM:602032
Rhizomelic Chondrodysplasia Punctata, Type 1	Alopecia, Developmental cataract, Upslanted palpebral fissure, Ichthyosis, Severe failure to thrive	OMIM:215100
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Cataract, Skin ulcer, Hyperkeratosis, Interstitial pneumoni...	ORPHA:454831
L-Ferritin Deficiency	Alopecia	OMIM:615604
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Sparse hair, Alopecia, Long eyelashes, Small for gestational age	ORPHA:3363
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Curly hair, Epicanthus, Sparse scalp hair, Eczema, Polyhydramnios, Large for gestational age, Web...	OMIM:607721
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Alopecia, Cataract, Sparse eyelashes, Sparse eyebrow, Nail dysplasia, Erysipelas	OMIM:615704
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Psoriasiform dermatitis, Failure to thrive in infancy, Eczema, Thyroiditis, Erythroderma, Patchy ...	OMIM:606367
Irida Syndrome	Hyperkeratosis, Pallor, Ichthyosis	ORPHA:209981
Microcephaly-Microcornea Syndrome, Seemanova Type	Epicanthus, Cataract, Upslanted palpebral fissure, Microcornea, Microphthalmia	ORPHA:2528
Short Syndrome	Alopecia, Telecanthus, Corneal opacity, Posterior embryotoxon, Abnormal pupil morphology, Wide na...	ORPHA:3163
Xeroderma Pigmentosum	Conjunctival telangiectasia, Alopecia, Entropion, Cataract, Keratitis, Thickened skin, Erythema, ...	ORPHA:910
2Q24 Microdeletion Syndrome	Cataract, Small for gestational age, Abnormality iris morphology, Coloboma, Microphthalmia, Failu...	ORPHA:1617
Acrokeratoelastoidosis Of Costa	Epidermal acanthosis, Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratosis, Hyperkeratoti...	ORPHA:38
Pierpont Syndrome	Telecanthus, High anterior hairline, Microcornea, Narrow palpebral fissure, Decreased body weight...	OMIM:602342
Alopecia-Intellectual Disability Syndrome	Sparse scalp hair, Alopecia, Ichthyosis, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:2850
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Alopecia totalis	ORPHA:1014
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	Ridged nail, Nail pits, Congenital alopecia totalis	ORPHA:169095
Rapp-Hodgkin Syndrome	Absent lacrimal punctum, Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebro...	OMIM:129400
Thumb Deformity And Alopecia	Alopecia	OMIM:188150
Alopecia, Familial Focal	Patchy alopecia	OMIM:104110
Alopecia-Intellectual Disability Syndrome 3	Alopecia universalis	OMIM:613930
Alopecia-Intellectual Disability Syndrome 2	Alopecia universalis	OMIM:610422
Ichthyosis, X-Linked	Congenital ichthyosiform erythroderma, Palmoplantar keratoderma, Opacification of the corneal str...	OMIM:308100
Microphthalmia, Isolated, With Cataract 1	Microphthalmia, Cataract	OMIM:156850
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Corneal opacity, Chorioretinal coloboma, Microphthalmia, Posterior embryotoxon, Iris co...	ORPHA:1473
Pierpont Syndrome	Telecanthus, Small for gestational age, Microcornea, Narrow palpebral fissure, Microphthalmia, Hi...	ORPHA:487825
Dermatopathia Pigmentosa Reticularis	Abnormal conjunctiva morphology, Alopecia of scalp, Nail dystrophy, Palmoplantar hyperkeratosis	OMIM:125595
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Alopecia, Sinusitis, Osteomyelitis, Skin rash, Recurrent p...	ORPHA:47
Basan Syndrome	Palmoplantar keratoderma, Epidermal acanthosis, Nail dystrophy	OMIM:129200
Palmoplantar Keratoderma, Punctate Type Ia	Orthokeratosis, Punctate palmoplantar hyperkeratosis, Epidermal acanthosis, Hypergranulosis	OMIM:148600
Immunodeficiency 58	Recurrent cutaneous abscess formation, Psoriasiform lesion, Eczema, Allergic rhinitis, Seborrheic...	OMIM:618131
Oculocutaneous Albinism Type 1A	Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Thickened skin, Ocular albinism, Hyp...	ORPHA:79431
Noonan Syndrome 10	Curly hair, Epicanthus, Prominent corneal nerve fibers, Sparse eyebrow, Increased nuchal transluc...	OMIM:616564
Chronic Actinic Dermatitis	Late onset atopic dermatitis, Epidermal acanthosis, Eczema, Allergic rhinitis, Pruritus, Erythrod...	ORPHA:330064
Bullous Dystrophy, Hereditary Macular Type	Alopecia totalis, Abnormality of the nail	OMIM:302000
Cortisone Reductase Deficiency 1	Alopecia, Acne, Obesity, Hirsutism	OMIM:604931
Pachyonychia Congenita 1	Nail dystrophy, Follicular hyperkeratosis, Palmoplantar hyperkeratosis, Onychogryposis	OMIM:167200
Pachyonychia Congenita 2	Subungual hyperkeratosis, Sparse scalp hair, Dry hair, Angular cheilitis, Sparse eyebrow, Palmopl...	OMIM:167210
Corneal Dystrophy, Endothelial, X-Linked	Corneal opacity, Corneal dystrophy, Band keratopathy	OMIM:300779
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Recurrent skin infections, Pruritus, Recurrent pneumonia, Cheilitis, Palmoplantar ke...	ORPHA:158668
Premature Aging Syndrome, Penttinen Type	Corneal opacity, Thickened skin, Palmoplantar hyperkeratosis, Corneal stromal edema, Hyperkeratos...	OMIM:601812
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Alopecia, Highly arched eyebrow, Synophrys, Wide nasal bridge, Palmoplantar hyperkeratosis, Dystr...	ORPHA:3253
Pseudopelade Of Brocq	Sparse scalp hair, Alopecia, Recurrent skin infections, Abnormal hair morphology, Cheilitis, Abno...	ORPHA:129
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Alopecia, Upslanted palpebral fissure, Hyperkeratosis, Ichthyosis, Sparse hair, Abnormal toenail ...	ORPHA:1005
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal opacity, Corneal dystrophy	OMIM:609140
Corneal Dystrophy-Perceptive Deafness Syndrome	Corneal opacity, Corneal dystrophy	ORPHA:1490
Porphyria Cutanea Tarda	Facial hypertrichosis, Scleroderma, Alopecia, Onycholysis	OMIM:176100
Chilblain Lupus 1	Abnormality of the nail, Chilblains, Skin ulcer	OMIM:610448
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Corneal opacity, Keratitis, Synophrys, Wide nasal bridge, Conjunctivitis, Long palpebral fissure,...	OMIM:602562
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m...	ORPHA:248
Prolidase Deficiency	Eczema, Recurrent pneumonia, Crusting erythematous dermatitis, Skin ulcer, Low posterior hairline...	OMIM:170100
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Alopecia, Psoriasiform lesion, Eosinophilia, Erythroderma, Failure to thrive	ORPHA:169154
Dracunculiasis	Recurrent cutaneous abscess formation, Skin rash, Pruritus, Skin ulcer, Arthritis	ORPHA:231
Oculomaxillofacial Dysostosis	Corneal opacity, Abnormal eyelid morphology, Abnormal eyelash morphology, Wide nasal bridge, Upsl...	ORPHA:1794
Hereditary Acrokeratotic Poikiloderma	Eczema, Pustule, Erythema, Xerostomia, Palmoplantar hyperkeratosis, Keratoconjunctivitis, Skin ul...	ORPHA:2907
Hemihyperplasia-Multiple Lipomatosis Syndrome	Hyperparakeratosis, Ovarian serous cystadenoma, Seborrheic dermatitis	ORPHA:276280
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Corneal opacity, Corneal dystrophy	ORPHA:3177
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Alopecia, Recurrent skin infections, Recurrent pneumonia, Pyoderma gangrenosu...	OMIM:616576
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Dry skin, Follicular hyperkeratosis	OMIM:617066
Nasopalpebral Lipoma-Coloboma Syndrome	Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Sparse eyebrow, Widow's peak, Upper eye...	OMIM:167730
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Ectopia lentis, Hypoplastic toenails...	ORPHA:2325
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Anophthalmia, Edema, Abnormal eyelid morphology, Lymphedema, Scaling skin, Abnormal toenail morph...	ORPHA:2526
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Recurrent loss of toenails and fingernails, Erythema, Crusting erythematous dermatitis, Palmoplan...	ORPHA:158673
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sclerodactyly, Sparse eyebrow, ...	ORPHA:1010
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Overweight, Dry skin, Follicular hyperkeratosis	ORPHA:486815
Reactive Arthritis	Pericarditis, Osteomyelitis, Pustule, Enthesitis, Weight loss, Arthritis, Inflammation of the lar...	ORPHA:29207
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation	Ichthyosis, Alopecia, Ectropion	OMIM:242510
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Alopecia, Epicanthus, Brittle hair, Wide nasal bridge, Upslanted palpebral fissure, Failure to th...	ORPHA:50812
Cronkhite-Canada Syndrome	Alopecia, Cataract, Abnormal fingernail morphology, Cachexia, Lymphedema, Hypoplastic toenails, D...	ORPHA:2930
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection	Chronic furunculosis, Pyoderma gangrenosum, Cutaneous abscess	OMIM:619986
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteomyelitis, Skin rash, Failure to thrive in infancy, Epidermal acanthosis, Pustule, Hyperkerat...	OMIM:612852
Tyrosinemia Type 2	Hyperkeratosis, Palmoplantar keratoderma, Corneal opacity, Abnormality of the nail	ORPHA:28378
Lymphatic Malformation 12	Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Hyperkeratosis	OMIM:620014
Oculocerebrocutaneous Syndrome	Alopecia, Anophthalmia, Orbital cyst, Eyelid coloboma, Microphthalmia	OMIM:164180
Trichothiodystrophy	Ridged nail, Congenital exfoliative erythroderma, Brittle hair, Microcornea, Conjunctivitis, Tige...	ORPHA:33364
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome	Hyperkeratotic papule, Leukonychia, Palmoplantar keratoderma, Palmoplantar hyperkeratosis	ORPHA:2698
Leprosy	Absent eyebrow, Alopecia, Loss of eyelashes, Penetrating foot ulcers, Uveitis, Paralytic lagophth...	ORPHA:548
Sialidosis Type 1	Hyperkeratosis, Cataract, Corneal opacity, Wide nasal bridge	ORPHA:812
Trichothiodystrophy 4, Nonphotosensitive	Epicanthus, Brittle hair, Sparse eyelashes, Abnormality of hair texture, Concave nail, Microcorne...	OMIM:234050
Chime Syndrome	Epicanthus, Corneal opacity, Erythema, Skin ulcer, Fine hair, Upslanted palpebral fissure, Hyperk...	ORPHA:3474
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Macs Syndrome	Epicanthus, Alopecia, Palpebral edema, Redundant skin, Sparse eyebrow, Bronchiectasis, Wide nasal...	OMIM:613075
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Abnormal fingernail morphology, Pruritus, Gastrointestinal inflammation, Anonychia, Palmoplantar ...	ORPHA:79410
Diffuse Cutaneous Mastocytosis	Pruritus, Thickened skin, Scaling skin, Erythroderma, Peau d'orange	ORPHA:79456
Trichothiodystrophy 3, Photosensitive	Brittle hair, Cataract, Developmental cataract, Congenital ichthyosiform erythroderma, Congenital...	OMIM:616395
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Epicanthus, Cataract, Corneal opacity, Lymphedema, Myopic astigmatism, Upslanted palpebral fissur...	OMIM:152950
Familial Keratoacanthoma	Hyperkeratosis, Skin ulcer	ORPHA:493
Congenital Disorder Of Glycosylation, Type Iil	Epicanthus, Dry skin, Hyperkeratosis, Inflammation of the large intestine, Peau d'orange, Failure...	OMIM:614576
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal eyelid morphology, Uveitis, Hyperconvex fingernails, Conjunctivitis, Sparse hair, Abnorm...	ORPHA:2273
Proliferating Trichilemmal Cyst	Sparse scalp hair, Skin ulcer	ORPHA:492
Pili Torti	Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ...	ORPHA:2889
Nasopalpebral Lipoma-Coloboma Syndrome	Lipomas of eyelids, Telecanthus, Cataract, Corneal opacity, Abnormal eyelash morphology, Sparse e...	ORPHA:2399
Inflammatory Skin And Bowel Disease, Neonatal, 2	Epidermal acanthosis, Polyhydramnios, Pustule, Recurrent pneumonia, Dehydration, Long eyelashes, ...	OMIM:616069
Drug Reaction With Eosinophilia And Systemic Symptoms	Skin rash, Eosinophilia, Pustule, Myocarditis, Angioedema, Erythema, Hepatitis, Thyroiditis, Weig...	ORPHA:139402
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia, Glomerulonephritis, Eczema, Eosinophilia, Hepatitis, Arthritis, Erythroderma, Failure t...	OMIM:304790
Monosomy 18P	Alopecia, Epicanthus, Lymphedema, Wide nasal bridge, Low posterior hairline, Webbed neck, Microph...	ORPHA:1598
Renpenning Syndrome	Abnormal hairshaft morphology, Alopecia, Epicanthus, Cataract, Cachexia, Upslanted palpebral fiss...	ORPHA:3242
Hypomelanosis Of Ito	Alopecia, Epicanthus, Cataract, Iris coloboma	OMIM:300337
Crandall Syndrome	Alopecia, Brittle hair, Fine hair, Sparse body hair, Pili torti, Aplasia/Hypoplasia of the eyebrow	ORPHA:202
Reticular Dysgenesis	Skin rash, Skin ulcer, Weight loss, Dehydration, Chronic otitis media, Failure to thrive	ORPHA:33355
Idiopathic Localized Lipodystrophy	Inflammatory abnormality of the skin, Pruritus, Erythema, Scaling skin, Scleroderma, Morphea	ORPHA:90158
Donohue Syndrome	Acanthosis nigricans, Hyperkeratosis, Ovarian cyst, Nail dysplasia, Severe failure to thrive, Hyp...	OMIM:246200
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hyperkeratosis, Lymphedema	ORPHA:79279
Bartsocas-Papas Syndrome	Corneal opacity, Alopecia totalis, Hypoplastic toenails, Ankyloblepharon, Popliteal pterygium, Sp...	ORPHA:1234
Cardiofaciocutaneous Syndrome 1	Absent eyebrow, Epicanthus, Curly hair, Slow-growing hair, Polyhydramnios, Absent eyelashes, Atop...	OMIM:115150
Centrifugal Lipodystrophy	Alopecia, Inflammatory abnormality of the skin, Lymphadenitis, Erythema, Scaling skin	ORPHA:90156
Galactosialidosis	Corneal opacity	ORPHA:351
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Lacrimal duct atresia...	OMIM:106260
Dermatofibrosarcoma Protuberans	Thickened skin, Erythema, Skin ulcer	ORPHA:31112
Fibrodysplasia Ossificans Progressiva	Alopecia, Failure to thrive	ORPHA:337
Werner Syndrome	Sparse scalp hair, Cataract, Abnormal hair whorl, Lack of skin elasticity, Skin ulcer, Premature ...	ORPHA:902
Mednik Syndrome	Hyperkeratosis, Ichthyosis	ORPHA:171851
Omenn Syndrome	Alopecia, Eosinophilia, Pneumonia, Thickened skin, Erythroderma, Failure to thrive	OMIM:603554
Adult Syndrome	Sparse scalp hair, Alopecia, Absent nipple, Nasolacrimal duct obstruction, Wide nasal bridge, Fin...	ORPHA:978
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Nanophthalmos 2	Microphthalmia	OMIM:609549
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Mucolipidosis Type Iii	Acne, Corneal opacity	ORPHA:577
Adams-Oliver Syndrome 2	Alopecia, Low anterior hairline, Developmental cataract, Narrow palpebral fissure, Small nail, Mi...	OMIM:614219
Bone Marrow Failure Syndrome 3	Epicanthus, Eczema, Hyperkeratosis, Astigmatism, Nail dystrophy, Small nail, Sparse hair, Failure...	OMIM:617052
Marie Unna Hereditary Hypotrichosis	Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e...	ORPHA:444
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia, Hyperkeratosis, Short nose	ORPHA:163966
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Skin ulcer, Arthritis, Ot...	ORPHA:229717
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hyperkeratosis	OMIM:145250
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Ridged nail, Alopecia, Nail dystrophy, Nail pits	OMIM:601705
Cataract 9, Multiple Types	Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma	OMIM:604219
Mucous Membrane Pemphigoid	Corneal opacity	ORPHA:46486
Frontofacionasal Dysplasia	Telecanthus, Cataract, Blepharophimosis, Brushfield spots, Upper eyelid coloboma, Microcornea, Li...	ORPHA:1791
Fucosidosis	Failure to thrive, Generalized hyperkeratosis, Abnormality of the nail, Corneal opacity	ORPHA:349
Microphthalmia, Syndromic 8	Microcornea, Blepharophimosis, Microphthalmia, Premature skin wrinkling, Short palpebral fissure	OMIM:601349
Microphthalmia, Syndromic 13	Microcornea, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Ptosis	OMIM:300915
Gombo Syndrome	Microphthalmia	OMIM:233270
Eec Syndrome	Entropion, Slow-growing hair, Keratitis, Sparse eyebrow, Corneal erosion, Xerostomia, Nail pits, ...	ORPHA:1896
Developmental Delay With Variable Neurologic And Brain Abnormalities	Cataract, Upslanted palpebral fissure, Astigmatism, Long palpebral fissure, Microphthalmia, Spars...	OMIM:619694
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Dystrophic fingernails, Dystrophic toenail	ORPHA:1882
Singleton-Merten Syndrome 2	Hyperkeratosis, Psoriasiform lesion	OMIM:616298
Acrogeria	Excessive wrinkled skin, Thin skin, Skin ulcer, Fine hair	ORPHA:2500
Glaucoma 3, Primary Congenital, D	Corneal opacity, Primary congenital glaucoma, Ectopia lentis	OMIM:613086
Cataract 21, Multiple Types	Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Macular hypoplasi...	OMIM:610202
Noonan Syndrome 2	Curly hair, Epicanthus, Polyhydramnios, Sparse eyebrow, Increased nuchal translucency, Low poster...	OMIM:605275
Bilateral Striopallidodentate Calcinosis	Corneal opacity	ORPHA:1980
Kindler Epidermolysis Bullosa	Recurrent skin infections, Corneal opacity, Erythema, Cheilitis, Hyperkeratosis, Inflammation of ...	ORPHA:2908
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Recurrent skin infections, Corneal opacity, Erythema, Palmoplantar keratoderma, Nail dy...	ORPHA:79396
Baraitser-Winter Syndrome 2	Telecanthus, Highly arched eyebrow, Coloboma, Webbed neck, Long palpebral fissure, Microphthalmia...	OMIM:614583
Pachyonychia Congenita 3	Chapped lip, Plantar hyperkeratosis, Onychogryposis of toenails, Palmoplantar keratoderma, Nail d...	OMIM:615726
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Absent eyebrow, Alopecia, Sparse scalp hair, Palpebral edema, Predominantly lower limb lymphedema...	OMIM:607823
Autosomal Dominant Hyper-Ige Syndrome	Osteomyelitis, Skin rash, Eczema, Eosinophilia, Pruritus, Abnormal hair morphology, Paronychia, W...	ORPHA:2314
Flynn-Aird Syndrome	Alopecia, Cataract, Skin ulcer, Cachexia	ORPHA:2047
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Absent eyebrow, Alopecia, Sparse scalp hair, Palpebral edema, Predominantly lower limb lymphedema...	ORPHA:69735
Atopic Keratoconjunctivitis	Corneal opacity, Abnormal eyelid morphology, Keratitis, Loss of eyelashes, Keratoconjunctivitis s...	ORPHA:163934
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Alopecia, Telecanthus	OMIM:203550
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Short nose, Corneal opacity	ORPHA:2370
Hypotrichosis 5	Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs...	OMIM:612841
Holocarboxylase Synthetase Deficiency	Alopecia, Eczema, Weight loss, Keratoconjunctivitis, Perioral eczema	ORPHA:79242
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Cataract, Corneal opacity, Low anterior hairline, Coloboma, Microphthalmia	OMIM:613153
Chanarin-Dorfman Syndrome	Alopecia, Subcapsular cataract, Congenital nonbullous ichthyosiform erythroderma, Ectropion	OMIM:275630
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Pneumonia, Eosinophilia, Recurrent pneumonia, Hepatitis, Otitis media, ...	ORPHA:169160
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia, Ankyloblepharon	ORPHA:85275
Copper Deficiency, Familial Benign	Curly hair, Failure to thrive, Early balding, Seborrheic dermatitis	OMIM:121270
Acral Peeling Skin Syndrome	Eczema, Erythema, Scaling skin, Ichthyosis, Excessive wrinkling of palmar skin	ORPHA:263534
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Eczema, Lymphadenitis, Inflammation of the large intestine, Nail dystrophy, Thin skin, Erythroder...	OMIM:615895
Rothmund-Thomson Syndrome	Plantar hyperkeratosis, Porokeratosis, Skin rash, Sparse eyelashes, Alopecia totalis, Small for g...	ORPHA:2909
Systemic Lupus Erythematosus 17	Alopecia, Malar rash, Optic neuritis, Myelitis	OMIM:301080
Cerebrooculofacioskeletal Syndrome 1	Cataract, Small for gestational age, Recurrent pneumonia, Dehydration, Blepharophimosis, Micropht...	OMIM:214150
Papillon-Lefèvre Syndrome	Recurrent cutaneous abscess formation, Severe periodontitis, Recurrent skin infections, Abnormal ...	ORPHA:678
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Cataract, Congenital abnormal hair pattern, Pneumonia, Corneal opacity, Nail dystrophy,...	ORPHA:1867
Bresek Syndrome	Alopecia, Optic nerve hypoplasia, Ichthyosis, Microphthalmia, Iris coloboma	ORPHA:85284
Foveal Hypoplasia 2	Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Microphthalmia, Posterior embryotoxon	OMIM:609218
Hermansky-Pudlak Syndrome	Hypopigmentation of hair, Cataract, Thickened skin, Ocular albinism, Weight loss, Hyperkeratosis,...	ORPHA:79430
Microphthalmia, Isolated, With Coloboma 10	Anophthalmia, Chorioretinal coloboma, Microphthalmia, Microcoria, Iris coloboma	OMIM:616428
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Cataract 11, Multiple Types	Microphthalmia, Cataract, Developmental cataract	OMIM:610623
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Telecanthus, Redundant neck skin, Small for gestational age, Optic nerve hypoplasia, Polyhydramni...	OMIM:301056
Chondrodysplasia Punctata, Autosomal Dominant	Sparse hair, Hyperkeratosis with erythema, Coarse hair, Cataract	OMIM:118650
Reynolds Syndrome	Skin rash, Pruritus, Xerostomia, Skin ulcer, Arthritis, Keratoconjunctivitis sicca, Ascites, Infe...	ORPHA:779
Erythroderma, Lethal Congenital	Congenital exfoliative erythroderma, Failure to thrive	OMIM:227090
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Alopecia, Telecanthus, Fine hair, Upslanted palpebral fissure, Microphthalmia, Oligohydramnios	ORPHA:228390
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microcornea, Microphthalmia, Cataract, Long eyelashes	ORPHA:48431
Frontonasal Dysplasia 1	Epicanthus, Cataract, Widow's peak, Wide nasal bridge, Coloboma, Microphthalmia, Ptosis	OMIM:136760
Lattice Corneal Dystrophy Type I	Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc...	ORPHA:98964
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia, Cataract, Small for gestational age	OMIM:278780
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia, Edema	OMIM:616570
Gaucher Disease, Perinatal Lethal	Nonimmune hydrops fetalis, Polyhydramnios, Hyperkeratosis, Ichthyosis, Congenital nonbullous icht...	OMIM:608013
Baraitser-Winter Syndrome 1	Epicanthus, Highly arched eyebrow, Wide nasal bridge, Low posterior hairline, Chorioretinal colob...	OMIM:243310
Fanconi Anemia, Complementation Group S	Epicanthus, Low anterior hairline, Upslanted palpebral fissure, Long eyelashes, Sparse hair, Blep...	OMIM:617883
Juvenile Hyaline Fibromatosis	Abnormal hair morphology, Skin ulcer	ORPHA:2028
Ectodermal Dysplasia 7, Hair/Nail Type	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa...	OMIM:614929
Bartsocas-Papas Syndrome 2	Corneal opacity, Antecubital pterygium, Ankyloblepharon, Popliteal pterygium, Microphthalmia, Axi...	OMIM:619339
Mixed Connective Tissue Disease	Myositis, Pericarditis, Skin rash, Gastritis, Alopecia, Myocarditis, Xerostomia, Arthritis, Kerat...	ORPHA:809
Congenital Rubella Syndrome	Cataract, Skin rash, Corneal opacity, Aplasia/Hypoplasia of the iris, Microphthalmia	ORPHA:290
Harel-Yoon Syndrome	Upslanted palpebral fissure, Short nose, Corneal opacity, Developmental cataract	OMIM:617183
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia, Coloboma, Failure to thrive	OMIM:274270
Sandestig-Stefanova Syndrome	Epicanthus, Laterally extended eyebrow, Small for gestational age, Highly arched eyebrow, Wide na...	OMIM:618804
Dyskeratosis Congenita	Abnormal eyebrow morphology, Alopecia, Cataract, Abnormal fingernail morphology, Abnormal eyelash...	ORPHA:1775
Corneal Dystrophy, Reis-Bucklers Type	Palpebral edema, Corneal dystrophy, Corneal opacity, Corneal erosion, Opacification of the cornea...	OMIM:608470
Punctate Palmoplantar Keratoderma Type 1	Epidermal acanthosis, Hypergranulosis, Abnormal epidermal morphology, Palmoplantar hyperkeratosis...	ORPHA:79501
8Q21.11 Microdeletion Syndrome	Epicanthus, Cataract, Iris hypopigmentation, Eczema, Sclerocornea, Corneal opacity, Blepharophimo...	ORPHA:284160
Huriez Syndrome	Congenital palmoplantar hyperkeratosis, Epidermal acanthosis, Nail dystrophy, Small nail	OMIM:181600
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Alopecia, Epicanthus, Iris coloboma	ORPHA:88630
Kury-Isidor Syndrome	Ptosis, Alopecia, Astigmatism, Recurrent otitis media, Downslanted palpebral fissures, Hypertrich...	OMIM:619762
Monosomy 22	Epicanthus, Seborrheic dermatitis, Thickened skin, Synophrys, Narrow palpebral fissure, Joint swe...	ORPHA:96123
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Epicanthus, Supernumerary nipple, Sparse eyebrow, Synophrys, Wide nasal bridge, Upslanted palpebr...	OMIM:620098
Mucolipidosis Type Iv	Palmoplantar keratoderma, Corneal opacity	ORPHA:578
Ramon Syndrome	Hyperkeratosis, Axenfeld anomaly, Decreased body weight, Juvenile rheumatoid arthritis, Hypertric...	OMIM:266270
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse	Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal acanthosis	OMIM:615735
Oculodentodigital Dysplasia, Autosomal Recessive	Telecanthus, Epicanthus, Sparse eyelashes, Cataract, Long nose, Fine hair, Microcornea, Persisten...	OMIM:257850
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Anisocoria, Hyperkeratosis, High anterior hairline, Ptosis	OMIM:615510
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Epicanthus, Cataract, Sparse hair, Microphthalmia, Short nose, Downslanted palpebral fissures	OMIM:614105
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Buphthalmos, Microcornea, Anterior synechiae of the ante...	OMIM:269400
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Coloboma, Peters anomaly, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma	OMIM:610023
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microcornea, Microphthalmia, Cataract	OMIM:616171
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent bacterial skin infections, Pneumonia, Atopic dermatitis, Skin ulcer, Recurrent sinusiti...	ORPHA:217390
Microphthalmia, Isolated, With Coloboma 5	Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:611638
Rothmund-Thomson Syndrome Type 2	Plantar hyperkeratosis, Porokeratosis, Small for gestational age, Alopecia totalis, Long nose, Fa...	ORPHA:221016
Autosomal Recessive Cutis Laxa Type 2A	Corneal opacity, Thick hair, Excessive wrinkled skin, Abnormal cornea morphology, Downslanted pal...	ORPHA:357058
Familial Hemophagocytic Lymphohistiocytosis	Skin rash, Maculopapular exanthema, Colitis, Erythroderma, Ecchymosis, Infectious encephalitis, P...	ORPHA:540
Deafness, X-Linked 7	Telecanthus, Unilateral microphthalmos, Wide nasal bridge, Thick eyebrow, Ptosis	OMIM:301018
Bartsocas-Papas Syndrome 1	Cicatricial lagophthalmos, Ankyloblepharon, Pterygium, Absent eyebrow, Alopecia, Absent eyelashes...	OMIM:263650
Cofs Syndrome	Microphthalmia, Cataract, Wide nasal bridge	ORPHA:1466
Multiple Benign Circumferential Skin Creases On Limbs	Epicanthus, Edema, Thickened skin, Microcornea, Microphthalmia, Generalized hirsutism	ORPHA:2505
Rothmund-Thomson Syndrome, Type 2	Absent eyebrow, Epicanthus, Alopecia, Sparse eyelashes, Sparse scalp hair, Small for gestational ...	OMIM:268400
Papa Syndrome	Increased inflammatory response, Myositis, Acne, Pustule, Skin ulcer, Arthritis, Crohn's disease	ORPHA:69126
Warburg-Cinotti Syndrome	Epicanthus, Symblepharon, Erythema, Narrow palpebral fissure, Joint swelling, Thin skin, Follicul...	OMIM:618175
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia, Cataract, Iris coloboma	OMIM:610092
Biotinidase Deficiency	Alopecia, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Conjunctivitis	OMIM:253260
Spondylo-Ocular Syndrome	Abnormal eyebrow morphology, Aplasia/Hypoplasia of the lens, Cataract, Low posterior hairline, We...	ORPHA:85194
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Ptosis, Alopecia, Hyperconvex fingernails, Skin vesicle, Hypoplastic fingernail	ORPHA:257
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Cataract, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus m...	ORPHA:2334
Generalized Pustular Psoriasis	Pustule, Overweight, Cheilitis, Uveitis, Obesity, Pedal edema, Arthritis, Palmoplantar pustulosis...	ORPHA:247353
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia, Short nose, Nail dystrophy, Highly arched eyebrow	OMIM:300887
Gomez-Lopez-Hernandez Syndrome	Opacification of the corneal stroma, Alopecia, Downslanted palpebral fissures, Short nose	OMIM:601853
Cat-Eye Syndrome	Microphthalmia, Downslanted palpebral fissures, Iris coloboma, Chorioretinal coloboma	ORPHA:195
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia, Cataract, Iris coloboma, Chorioretinal coloboma	OMIM:120433
Rothmund-Thomson Syndrome Type 1	Plantar hyperkeratosis, Porokeratosis, Small for gestational age, Alopecia totalis, Facial edema,...	ORPHA:221008
Thiel-Behnke Corneal Dystrophy	Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio...	ORPHA:98960
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Telecanthus, Corneal opacity, Synophrys, Thin eyebrow, Small nail, Microphthalmia, Short nose, Fa...	ORPHA:364577
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma	OMIM:614497
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Cataract, Corneal opacity, Edema, Developmental cataract, Generalized hy...	ORPHA:93400
Morquio Syndrome C	Corneal opacity	OMIM:252300
Free Sialic Acid Storage Disease	Failure to thrive in infancy, Hydrops fetalis, Skin ulcer, Ascites, Iris hypopigmentation	ORPHA:834
Warburg Micro Syndrome 3	Cataract, Low anterior hairline, Developmental cataract, Microcornea, Shallow anterior chamber, B...	OMIM:614222
H Syndrome	Abnormal eyebrow morphology, Alopecia, Psoriasiform dermatitis, Bronchiectasis, Upper eyelid edem...	ORPHA:168569
Hemifacial Atrophy, Progressive	Blepharophimosis, Patchy alopecia, Horner syndrome, Poliosis	OMIM:141300
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	Ptosis, Thickened skin, Acne, Seborrheic dermatitis	OMIM:167100
Juvenile Dermatomyositis	Myositis, Pericarditis, Skin rash, Palpebral edema, Alopecia, Pruritus, Erythema, Skin ulcer, Wei...	ORPHA:93672
Hurler-Scheie Syndrome	Rhinitis, Corneal opacity, Generalized hirsutism	ORPHA:93476
Cerebrooculofacioskeletal Syndrome 2	Cataract, Small for gestational age, Developmental cataract, Sparse hair, Microphthalmia	OMIM:610756
Immunodeficiency 85 And Autoimmunity	Oligoarthritis, Eczema, Failure to thrive in infancy, Erythroderma	OMIM:619510
Bullous Diffuse Cutaneous Mastocytosis	Pruritus, Erythroderma	ORPHA:280785
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Sparse scalp hair, Telecanthus, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Dacryocys...	OMIM:129900
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri...	OMIM:610256
Joubert Syndrome 37	Wide nasal bridge, Obesity, Sparse hair, Microphthalmia, Ptosis	OMIM:619185
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth...	OMIM:217300
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Multiple Sulfatase Deficiency	Cataract, Corneal opacity, Coarse hair, Ichthyosis, Thick eyebrow	ORPHA:585
Refsum Disease	Cataract, Nail dysplasia, Ichthyosis, Microphthalmia, Dry skin, Ptosis	ORPHA:773
Kanzaki Disease	Lymphedema, Tortuosity of conjunctival vessels, Hyperkeratosis, Dry skin, Petechiae	OMIM:609242
Lymphedema-Distichiasis Syndrome	Ptosis, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphedema, Yellow nails,...	OMIM:153400
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Cataract, Corneal opacity, Optic nerve hypoplasia, Upslanted palpebral fissure, Short nose	ORPHA:496790
Sialidosis Type 2	Ascites, Corneal opacity, Hydrops fetalis, Pedal edema	ORPHA:87876
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Polyhydramnios, Large for gestatio...	ORPHA:544488
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Corneal opacity, Hydrops fetalis, Developmental cataract	OMIM:618815
Frontonasal Dysplasia 3	Absent eyebrow, Sparse eyelashes, Wide nasal bridge, Upper eyelid coloboma, Microphthalmia	OMIM:613456
Ablepharon Macrostomia Syndrome	Absent eyebrow, Ablepharon, Corneal opacity, Redundant skin, Abnormal hair pattern, Absent eyelas...	ORPHA:920
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Cataract, Iris hypopigmentation, Corneal opacity, Ocular albinism, Thin...	ORPHA:2719
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Foot osteomyelitis, Acral ulceration, Skin ulcer	ORPHA:139578
Hatipoglu Immunodeficiency Syndrome	Failure to thrive, Eczema, Thickened skin, Atopic dermatitis, Dry skin, Premature graying of hair...	OMIM:620331
Dermatoosteolysis, Kirghizian Type	Keratitis, Osteoarthritis, Skin ulcer, Dystrophic fingernails, Abnormality of the nail, Dystrophi...	ORPHA:1657
Johnson Neuroectodermal Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Sparse hair, Failure to thrive, Downslanted palpebral...	ORPHA:2316
Rodrigues Blindness	Sclerocornea, Fine hair, Microcornea, Sparse hair, Microphthalmia	OMIM:268320
Necrobiosis Lipoidica	Inflammatory abnormality of the skin, Erythema, Skin ulcer	ORPHA:542592
Frontonasal Dysplasia 2	Telecanthus, Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Wide nasal bridge, Fine hair, Up...	OMIM:613451
Alpha-Heavy Chain Disease	Alopecia, Ascites	ORPHA:100025
Microphthalmia, Isolated 2	Microphthalmia, Opacification of the corneal stroma	OMIM:610093
Mycetoma	Recurrent bacterial skin infections, Cobblestone-like hyperkeratosis, Osteomyelitis	ORPHA:2583
Keratoendotheliitis Fugax Hereditaria	Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma	OMIM:148200
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Acne, Pyoderma gangrenosum, Sterile arthritis, Arthritis, Colitis, Cystic acne	OMIM:604416
Bleeding Disorder, Platelet-Type, 21	Alopecia, Psoriasiform dermatitis, Eczema	OMIM:617443
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Renal cyst, Small nail, Ichthyosis, Downslanted palpe...	ORPHA:166035
Oculocerebrocutaneous Syndrome	Alopecia, Abnormal fingernail morphology, Corneal opacity, Eyelid coloboma, Iris coloboma, Ptosis	ORPHA:1647
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Small nail, Sclerodactyly	OMIM:610644
De Barsy Syndrome	Epicanthus, Cataract, Corneal opacity, Cutis laxa, Excessive wrinkled skin, Thin skin, Sparse hai...	ORPHA:2962
Nanophthalmos	Microphthalmia	ORPHA:35612
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Epicanthus, Eczema, Seborrheic dermatitis, Obesity, Astigmatism, Failure to thrive, Downslanted p...	ORPHA:369950
Adams-Oliver Syndrome 4	Hypoplastic toenails, Microphthalmia, Toenail dysplasia	OMIM:615297
Rere-Related Neurodevelopmental Syndrome	Epicanthus, Astigmatism, Chorioretinal coloboma, Peters anomaly, Blepharophimosis, Microphthalmia...	ORPHA:494344
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Sparse scalp hair, Sparse eyelashes, Lacrimal duct stenosis, Sparse axillary hair, Sparse eyebrow...	OMIM:604292
Temtamy Syndrome	Microphthalmia, Telecanthus, Iris coloboma, Chorioretinal coloboma	ORPHA:1777
Temtamy Syndrome	Highly arched eyebrow, Lens luxation, Ectopia lentis, Chorioretinal coloboma, Microphthalmia, Dow...	OMIM:218340
Blepharophimosis, Ptosis, And Epicanthus Inversus	Telecanthus, Highly arched eyebrow, Sparse pubic hair, Wide nasal bridge, Microcornea, Blepharoph...	OMIM:110100
Oculogastrointestinal Neurodevelopmental Syndrome	Unilateral ptosis, Bilateral microphthalmos, Unilateral microphthalmos, Coloboma, Hirsutism	OMIM:619318
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia, Ankyloblepharon, Sclerocornea	OMIM:611038
Gm1 Gangliosidosis	Corneal opacity, Thickened skin, Hydrops fetalis, Weight loss, Aspiration pneumonia, Failure to t...	ORPHA:354
Ullrich Congenital Muscular Dystrophy 1	Failure to thrive, Slender build, Follicular hyperkeratosis	OMIM:254090
Zellweger Syndrome	Epicanthus, Multicystic kidney dysplasia, Corneal opacity, Posterior embryotoxon, Cataract, Brush...	ORPHA:912
Autoimmune Polyendocrinopathy Type 1	Alopecia, Cataract, Abnormal fingernail morphology, Chronic mucocutaneous candidiasis, Opacificat...	ORPHA:3453
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Microphthalmia, Isolated 5	Microphthalmia, Cataract, Cystoid macular edema	OMIM:611040
Neurooculocardiogenitourinary Syndrome	Epicanthus, Redundant neck skin, Coloboma, Peters anomaly, Microphthalmia	OMIM:618652
Gapo Syndrome	Keratoconus, Alopecia, Epicanthus, Sparse eyelashes, Redundant skin, Sparse eyebrow, Shallow ante...	OMIM:230740
Tangier Disease	Cicatricial ectropion, Nail dystrophy, Nail dysplasia, Opacification of the corneal stroma, Dry s...	OMIM:205400
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Psoriasiform dermatitis, Osteomyelitis, Eczema, Pneumonia, Recurrent skin infections, G...	ORPHA:37042
Microphthalmia, Isolated 6	Microcornea, Microphthalmia	OMIM:613517
Microphthalmia, Isolated, With Coloboma 9	Macular coloboma, Sclerocornea, Microcornea, Narrow palpebral fissure, Microphthalmia, Ocular ant...	OMIM:615145
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia, Coloboma, Ocular anterior segment dysgenesis, Developmental cataract	ORPHA:324416
Lowry-Maclean Syndrome	Corneal opacity, Developmental glaucoma, Generalized hypertrichosis, Short nose, Downslanted palp...	ORPHA:2409
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Keratoconus, Epicanthus, Recurrent pneumonia, Microcornea, Excessive wrinkled skin, Thin skin, Fo...	OMIM:225400
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Chronic active hepatitis, Alopecia, Cataract, Iridocyclitis, Chronic mucocuta...	OMIM:240300
Congenital Factor Xii Deficiency	Penetrating foot ulcers	ORPHA:330
Mucolipidosis Iv	Corneal opacity, Opacification of the corneal stroma	OMIM:252650
Menkes Disease	Sparse hair, Alopecia, Brittle hair, Cutis laxa	OMIM:309400
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Hypoplasia of the ...	OMIM:604229
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn...	ORPHA:171673
Mandibuloacral Dysplasia	Alopecia, Abnormally large globe, Acanthosis nigricans, Thin skin, Sparse hair, Hypoplastic finge...	ORPHA:2457
Microphthalmia, Isolated 4	Microphthalmia, Coloboma	OMIM:613094
Brooke-Spiegler Syndrome	Skin appendage neoplasm, Skin ulcer, Trichoepithelioma, Cylindroma, Nodular changes affecting the...	ORPHA:79493
Encephalocraniocutaneous Lipomatosis	Alopecia, Sclerocornea, Hypoplasia of the iris, Eyelid coloboma, Limbal dermoid, Microphthalmia	OMIM:613001
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Epicanthus, Cataract, Wide nasal bridge, Narrow palpebral fissure, Astigmatism, Retinal coloboma,...	OMIM:618571
Mandibulofacial Dysostosis With Alopecia	Alopecia, Wide nasal bridge, Sparse eyelashes, Lower eyelid coloboma	OMIM:616367
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome	Osteomyelitis, Generalized hirsutism, Skin ulcer	ORPHA:2218
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia, Epicanthus, Acne, Obesity	ORPHA:3191
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Brittle hair, Upslanted palpebral fissure, Coarse hair, Nail dystrophy	ORPHA:75389
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Alopecia, Truncal obesity, Epicanthus, Supernumerary nipple	ORPHA:3224
Warburg Micro Syndrome 4	Low anterior hairline, Developmental cataract, Microcornea, Microphthalmia, Hirsutism, Ptosis	OMIM:615663
Atypical Werner Syndrome	Abnormal hair quantity, Alopecia, Failure to thrive, Abnormal hair morphology, Abnormal hair whor...	ORPHA:79474
Adams-Oliver Syndrome	Alopecia, Cataract, Aplastic/hypoplastic toenail, Ascites, Absent fingernail, Sparse hair, Microp...	ORPHA:974
Insensitivity To Pain, Congenital, With Anhidrosis	Sparse scalp hair, Osteomyelitis, Keratitis, Corneal scarring, Acral ulceration, Nail dystrophy, ...	OMIM:256800
Immunodeficiency 25	Recurrent pneumonia, Eosinophilia, Erythroderma	OMIM:610163
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormal eyebrow morphology, Alopecia, Cataract, Absent eyelashes, Lack of skin elasticity, Breas...	ORPHA:90153
Stickler Syndrome Type 2	Cataract, Corneal opacity	ORPHA:90654
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Epicanthus, Bilateral microphthalmos, Low anterior hairline, Wide nasal bridge, Upslanted palpebr...	ORPHA:369891
Pediatric Systemic Lupus Erythematosus	Myositis, Alopecia, Skin rash, Edema, Discoid lupus rash, Pericardial effusion, Arthritis, Ascite...	ORPHA:93552
Proboscis Lateralis	Anophthalmia, Abnormal morphology of bony orbit of skull, Microcornea, Eyelid coloboma, Abnormali...	ORPHA:141099
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Thickened skin, Acne, Seborrheic dermatitis	OMIM:614441
Trisomy 13	Anophthalmia, Cataract, Abnormal eyelash morphology, Hydrops fetalis, Aplasia/Hypoplasia of the i...	ORPHA:3378
Schimmelpenning-Feuerstein-Mims Syndrome	Coloboma, Alopecia, Corneal opacity, Ichthyosis	OMIM:163200
Pigmented Nodular Adrenocortical Disease, Primary, 4	Alopecia, Acne, Increased body weight, Hirsutism	OMIM:615830
Restrictive Dermopathy	Telecanthus, Entropion, Short nail, Polyhydramnios, Epidermal hyperkeratosis, Sparse eyebrow, Apl...	ORPHA:1662
Bare Lymphocyte Syndrome, Type I	Ectopia lentis, Bronchiectasis, Skin ulcer, Chronic otitis media, Chronic sinusitis	OMIM:604571
Fetal Alcohol Syndrome	Epicanthus, Telecanthus, Microphthalmia, Short nose, Generalized hirsutism, Ptosis	ORPHA:1915
Neonatal Inflammatory Skin And Bowel Disease	Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Erythema, Hor...	ORPHA:294023
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma	OMIM:271310
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Sparse lateral eyebrow	OMIM:614564
Candidiasis, Familial, 8	Chronic oral candidiasis, Blepharitis, Cheilitis, Seborrheic dermatitis	OMIM:615527
Neuropathy, Hereditary Sensory, Type Iic	Acral ulceration	OMIM:614213
Ameloonychohypohidrotic Syndrome	Dry skin, Onycholysis, Seborrheic dermatitis	OMIM:104570
Neutral Lipid Storage Disease With Ichthyosis	Ptosis, Alopecia, Obesity, Congenital nonbullous ichthyosiform erythroderma, Subcapsular cataract...	ORPHA:98907
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Hajdu-Cheney Syndrome	Telecanthus, Cataract, Abnormal fingernail morphology, Thickened skin, Synophrys, Low anterior ha...	ORPHA:955
Johanson-Blizzard Syndrome	Absent lacrimal punctum, Alopecia, Abnormal hair pattern, Edema, Short nose, Failure to thrive	ORPHA:2315
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Epicanthus, Anophthalmia, Cataract, Sclerocornea, Microcornea, Coloboma, Ectopia pupillae, Long e...	OMIM:615877
Systemic Sclerosis	Pericarditis, Osteomyelitis, Recurrent skin infections, Glomerulonephritis, Alopecia, Nail bed te...	ORPHA:90291
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Eczema, Cholangitis, Eosinophilia, Pruritus, Angioedema, Ch...	ORPHA:3260
Sjogren-Larsson Syndrome	Astigmatism, Opacification of the corneal epithelium, Ichthyosis	OMIM:270200
Takayasu Arteritis	Increased inflammatory response, Skin ulcer, Weight loss, Arthritis, Inflammatory abnormality of ...	ORPHA:3287
Pgm3-Cdg	Membranoproliferative glomerulonephritis, Osteomyelitis, Eczema, Allergic rhinitis, Recurrent ski...	ORPHA:443811
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Alpha-Mannosidosis	Chronic otitis media, Arthritis, Cataract, Corneal opacity	ORPHA:61
Koolen-De Vries Syndrome Due To A Point Mutation	Epicanthus, Alopecia, Small for gestational age, Eczema, Blepharophimosis, Wide nasal bridge, Dev...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Epicanthus, Alopecia, Small for gestational age, Eczema, Blepharophimosis, Wide nasal bridge, Dev...	ORPHA:363958
Gorlin-Chaudhry-Moss Syndrome	Sclerocornea, Abnormal eyelid morphology, Low anterior hairline, Upper eyelid coloboma, Coarse ha...	ORPHA:2095
Autoimmune Lymphoproliferative Syndrome, Type Iii	Alopecia, Arthritis, Membranous nephropathy, Recurrent sinusitis, Recurrent otitis media	OMIM:615559
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Corneal opacity	ORPHA:2788
Hartsfield Syndrome	Microphthalmia, Telecanthus, Downslanted palpebral fissures, Ptosis	ORPHA:2117
22Q11.2 Deletion Syndrome	Polyhydramnios, Abnormal eyelid morphology, Chronic otitis media, Acne, Obesity, Wide nasal bridg...	ORPHA:567
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Alopecia, Failure to thrive, Seborrheic dermatitis	OMIM:210210
Alstrom Syndrome	Alopecia, Chronic active hepatitis, Recurrent pneumonia, Tubulointerstitial nephritis, Truncal ob...	OMIM:203800
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Highly arched eyebrow, Bilateral ptosis, Low anterior hairline, Wide nasal bridge, Upslanted palp...	ORPHA:404440
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia, Epicanthus, Downslanted palpebral fissures	OMIM:602501
Biemond Syndrome Type 2	Microphthalmia, Coloboma, Obesity	ORPHA:141333
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Hyperkeratosis, Opacification of the corneal stroma, Lymphedema	ORPHA:79280
Basel-Vanagaite-Smirin-Yosef Syndrome	Epicanthus, Cataract, Recurrent pneumonia, Microcornea, Sparse hair, Microphthalmia, Downslanted ...	OMIM:616449
Microphthalmia With Limb Anomalies	Anophthalmia, Abnormal eyelash morphology, Blepharophimosis, Microphthalmia, Short nose, Failure ...	OMIM:206920
Nanophthalmos 4	Microphthalmia	OMIM:615972
Ring Chromosome 10 Syndrome	Microphthalmia, Downslanted palpebral fissures, Wide nasal bridge, Cachexia	ORPHA:1438
Limb-Mammary Syndrome	Absent lacrimal punctum, Alopecia, Psoriasiform dermatitis, Chronic irritative conjunctivitis, Ab...	ORPHA:69085
Björnstad Syndrome	Alopecia, Brittle hair	ORPHA:123
Focal Dermal Hypoplasia	Alopecia, Multicystic kidney dysplasia, Corneal opacity, Ectopia lentis, Erythema, Hypoplasia of ...	ORPHA:2092
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Phthisis bulbi, Leukocoria, U...	OMIM:221900
Congenital Toxoplasmosis	Microphthalmia, Ascites, Failure to thrive in infancy	ORPHA:858
Transketolase Deficiency	Cataract, Seborrheic dermatitis, Renal cyst, Uveitis, Conjunctivitis	ORPHA:488618
Microphthalmia With Brain And Digit Anomalies	Anophthalmia, Cataract, Sclerocornea, Microcornea, Nail dysplasia, Chorioretinal coloboma, Microp...	ORPHA:139471
Adult Syndrome	Sparse scalp hair, Absent nipple, Fair hair, Eczema, Sparse axillary hair, Nasolacrimal duct obst...	OMIM:103285
Tbck-Related Intellectual Disability Syndrome	Epicanthus, Corneal opacity, Eczema, Synophrys, Hirsutism, Wide nasal bridge, Upslanted palpebral...	ORPHA:488632
Pyoderma Gangrenosum	Myositis, Pustule, Skin ulcer, Inflammation of the large intestine, Rheumatoid arthritis, Skin ve...	ORPHA:48104
Myoclonic-Astatic Epilepsy	Microphthalmia, Premature skin wrinkling, Wide nasal bridge, Frontal balding	ORPHA:1942
17Q12 Microduplication Syndrome	Microphthalmia, Synophrys, Polyhydramnios	ORPHA:261272
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Cataract, Microcornea, Coloboma, Shallow orbits, Iris transillumination defect, Decreased body we...	OMIM:617306
Meckel Syndrome, Type 8	Anophthalmia, Pericardial effusion, Polycystic kidney dysplasia, Microphthalmia, Short nose	OMIM:613885
Dermatomyositis	Abnormal hair quantity, Pericarditis, Abnormal eosinophil morphology, Edema, Abnormal eyelid morp...	ORPHA:221
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Alopecia, Cataract, Corneal scarring, Conjunctivitis, Nail dystrophy, Nail dysplasia	OMIM:226600
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Thin skin, Skin ulcer, Purpura	ORPHA:743
Blau Syndrome	Nongranulomatous uveitis, Pericarditis, Cataract, Eczema, Band keratopathy, Erythema nodosum, Syn...	OMIM:186580
Giant Cell Arteritis	Alopecia, Pericarditis, Skin ulcer, Weight loss, Arthritis, Ptosis	ORPHA:397
Restrictive Dermopathy 1	Entropion, Sparse eyelashes, Short nail, Polyhydramnios, Epidermal hyperkeratosis, Absent eyelash...	OMIM:275210
Chronic Graft Versus Host Disease	Fasciitis, Alopecia, Urinary bladder inflammation, Thickened skin, Erythema, Xerostomia, Bronchie...	ORPHA:99921
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Congenital Varicella Syndrome	Microphthalmia, Cataract	ORPHA:291
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Alopecia, Cataract, Cachexia, Xerostomia, Nail dystrophy, Nail dysplasia	OMIM:175500
Hurler-Scheie Syndrome	Thickened skin, Corneal opacity, Hirsutism	OMIM:607015
Abnormal Hair, Joint Laxity, And Developmental Delay	Alopecia, Fragile nails, Small nail, Recurrent otitis media, Pili torti, Trichorrhexis nodosa, Sp...	OMIM:261990
Aplasia Cutis Congenita	Skin ulcer	ORPHA:1114
3Q29 Microduplication Syndrome	Cataract, Sclerocornea, Wide nasal bridge, Obesity, Aniridia, Microphthalmia, Downslanted palpebr...	ORPHA:251038
Leishmaniasis	Rhinitis, Pallor, Skin ulcer, Weight loss	ORPHA:507
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia, Wide nasal bridge	OMIM:615524
6Q Terminal Deletion Syndrome	Highly arched eyebrow, Low anterior hairline, Obesity, Hyperkeratosis, Failure to thrive, Short p...	ORPHA:75857
Agammaglobulinemia 9, Autosomal Recessive	Failure to thrive, Eczematoid dermatitis, Seborrheic dermatitis	OMIM:619693
Facial Clefting, Oblique, 1	Microphthalmia, Coloboma	OMIM:600251
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Epicanthus, Abnormality of hair texture, Thickened skin, Synophrys, Hypoplastic sweat glands, Wid...	ORPHA:73223
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Epicanthus, Polyhydramnios, Cutis laxa, Microcornea, Follicular hyperkeratosis	OMIM:614557
Zinc Deficiency, Transient Neonatal	Alopecia, Eczema	OMIM:608118
Mmep Syndrome	Microphthalmia	ORPHA:3434
Buerger Disease	Skin ulcer	ORPHA:36258
Insulin-Resistance Syndrome Type B	Alopecia, Skin rash, Pneumonia, Abnormality of body weight, Enlarged polycystic ovaries, Osteoart...	ORPHA:2298
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant...	ORPHA:91495
Polyarteritis Nodosa	Pericarditis, Erythema, Skin ulcer, Weight loss	ORPHA:767
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia, Cataract, Failure to thrive in infancy, Pancreatitis	OMIM:618805
Immunodeficiency, Common Variable, 10	Trachyonychia, Psoriasiform dermatitis, Alopecia totalis, Recurrent pneumonia, Recurrent sinusiti...	OMIM:615577
Relapsing Polychondritis	Episcleritis, Pericarditis, Alopecia, Cataract, Chondritis of pinna, Keratitis, Myocarditis, Eryt...	ORPHA:728
Erythroderma Desquamativum	Failure to thrive, Seborrheic dermatitis	ORPHA:314
Dubowitz Syndrome	Sparse scalp hair, Epicanthus, Telecanthus, Eczema, Megalocornea, Wide nasal bridge, Hypoplasia o...	OMIM:223370
Xp22.3 Microdeletion Syndrome	Aplasia/Hypoplasia affecting the eye, Opacification of the corneal stroma, Polycystic ovaries	ORPHA:1643
Hallermann-Streiff Syndrome	Sparse scalp hair, Cataract, Sparse eyelashes, Small for gestational age, Sparse eyebrow, Recurre...	OMIM:234100
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Cataract, Scarring alopecia of scalp, Wide nasal bridge, Ectopia pupillae, Astigmatism, Microphth...	OMIM:618727
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia, Cataract, Wide nasal bridge	ORPHA:93267
Oculodentodigital Dysplasia	Epicanthus, Dry hair, Slow-growing hair, Cataract, Uveitis, Fine hair, Microcornea, Fragile nails...	OMIM:164200
Wilson Disease	Pruritus, Increased body weight, Hepatitis, Weight loss, Arthritis, Joint swelling, Kayser-Fleisc...	ORPHA:905
Mosaic Trisomy 9	Corneal opacity, Polyhydramnios, Hydrops fetalis, Upslanted palpebral fissure, Multiple renal cys...	ORPHA:99776
Scalp-Ear-Nipple Syndrome	Epicanthus, Telecanthus, Palpebral edema, Cataract, Sparse axillary hair, Sparse pubic hair, Thic...	OMIM:181270
Keratitis, Hereditary	Keratitis, Opacification of the corneal stroma	OMIM:148190
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Epicanthus, Cataract, Long palpebral fissure, Microphthalmia, Short nose	ORPHA:163649
Bethlem Myopathy	Hyperkeratosis	ORPHA:610
Fabry Disease	Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy, Lymphedema, Hyperkerat...	ORPHA:324
Mucopolysaccharidosis, Type Vii	Epicanthus, Thick eyebrow, Corneal opacity, Hydrops fetalis, Coarse hair, Recurrent otitis media,...	OMIM:253220
Porphyria, Congenital Erythropoietic	Absent eyebrow, Alopecia, Thickened skin, Loss of eyelashes, Corneal scarring, Conjunctivitis, Sc...	OMIM:263700
Cryoglobulinemic Vasculitis	Viral hepatitis, Skin ulcer, Arthritis, Keratoconjunctivitis sicca, Petechiae, Purpura	ORPHA:91138
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia, Shallow anterior chamber	OMIM:267760
Oculofaciocardiodental Syndrome	Cataract, Highly arched eyebrow, Ectopia lentis, Microcornea, Microphthalmia, Iris coloboma, Ptosis	ORPHA:2712
Microscopic Polyangiitis	Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Peritonitis, E...	ORPHA:727
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Short nose, Corneal opacity	OMIM:618961
Lymphatic Filariasis	Predominantly lower limb lymphedema, Glomerulonephritis, Lymphedema, Orchitis, Lymphadenitis, Kne...	ORPHA:2035
Chromosome 6Pter-P24 Deletion Syndrome	Telecanthus, Epicanthus, Frontal upsweep of hair, Axenfeld anomaly, Opacification of the corneal ...	OMIM:612582
Frontofacionasal Dysplasia	Telecanthus, Cataract, Ankyloblepharon, Microcornea, Eyelid coloboma, S-shaped palpebral fissures...	OMIM:229400
Mogs-Cdg	Alopecia, Pulmonary edema, Edema, Polyhydramnios, Long eyelashes, Fair hair, Short palpebral fiss...	ORPHA:79330
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol...	ORPHA:98973
Cohen Syndrome	Failure to thrive in infancy, Thick hair, Abnormal eyelid morphology, Abnormal eyelash morphology...	ORPHA:193
Wagro Syndrome	Cataract, Corneal opacity, Obesity, Aniridia, Downslanted palpebral fissures, Ptosis	OMIM:612469
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Eosinophilia, Hepatic cysts, Erythroderma	OMIM:617425
Classical-Like Ehlers-Danlos Syndrome Type 2	Alopecia, Redundant skin, Pericardial effusion, Bilateral ptosis, Keratoconjunctivitis sicca, Ast...	ORPHA:536532
Letterer-Siwe Disease	Stomatitis, Pallor, Seborrheic dermatitis	OMIM:246400
Hurler Syndrome	Corneal opacity, Bilateral ptosis, Wide nasal bridge, Opacification of the corneal stroma, Recurr...	OMIM:607014
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Telecanthus, Optic nerve hypoplasia, Abnormal hair morphology, Bilateral microphthalmos, Eyelid c...	OMIM:607597
Hallermann-Streiff Syndrome	Telecanthus, Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Uveitis, De...	ORPHA:2108
Fusariosis	Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Osteomyelitis, Keratitis, Per...	ORPHA:228119
Farber Disease	Corneal opacity, Hydrops fetalis, Arthritis, Abnormal conjunctiva morphology, Ascites, Joint swel...	ORPHA:333
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Autoimmune Polyendocrine Syndrome, Type Ii	Alopecia, Cataract, Band keratopathy, Hepatitis, Chronic mucocutaneous candidiasis, Keratoconjunc...	OMIM:269200
Gapo Syndrome	Keratoconus, Alopecia, Sparse eyelashes, Palpebral edema, Sparse eyebrow, Early balding	ORPHA:2067
Jacobsen Syndrome	Epicanthus, Telecanthus, Abnormal eyelash morphology, Nasolacrimal duct obstruction, Microcornea,...	OMIM:147791
Xk Aprosencephaly Syndrome	Microphthalmia, Polyhydramnios	ORPHA:3469
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, Cataract, Retinal coloboma, Obesity	ORPHA:363741
Bjornstad Syndrome	Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t...	OMIM:262000
Oculoauricular Syndrome	Cataract, Sclerocornea, Phthisis bulbi, Nasolacrimal duct obstruction, Developmental cataract, Mi...	OMIM:612109
Micro Syndrome	Cataract, Wide nasal bridge, Microcornea, Retinal coloboma, Microphthalmia, Short nose, Generaliz...	ORPHA:2510
Epidermodysplasia Verruciformis	Pustule, Recurrent skin infections, Seborrheic dermatitis	ORPHA:302
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Cataract, Retinal coloboma, Obesity	OMIM:601794
Multicentric Carpotarsal Osteolysis Syndrome	Corneal opacity	OMIM:166300
Joubert Syndrome 14	Epicanthus, Highly arched eyebrow, Renal cyst, Coloboma, Microphthalmia, Downslanted palpebral fi...	OMIM:614424
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Hyperkeratosis, Pilomatrixoma	OMIM:620189
Skin Creases, Congenital Symmetric Circumferential, 1	Epicanthus, Upslanted palpebral fissure, Microcornea, Hypoplastic nipples, Blepharophimosis, Micr...	OMIM:156610
Infantile Systemic Hyalinosis	Lymphedema, Thickened skin, Skin ulcer, Polycystic ovaries, Failure to thrive	ORPHA:2176
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Alopecia, Striae distensae, Acne, Increased body weight, Abdominal obesity, Hirsutism	ORPHA:189427
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Corneal opacity, Optic nerve hypoplasia, Corneal dystrophy, Sparse eyebrow, Synophrys, Low anteri...	ORPHA:495875
Cutis Laxa, Autosomal Dominant 3	Corneal opacity, Developmental cataract, Cutis laxa, Premature skin wrinkling, Dermal translucency	OMIM:616603
Spondylodysplastic Ehlers-Danlos Syndrome	Sparse scalp hair, Corneal opacity, Optic nerve hypoplasia, Megalocornea, Lymphedema, Posterior s...	ORPHA:536471
Corneal Dystrophy And Perceptive Deafness	Corneal dystrophy, Opacification of the corneal stroma	OMIM:217400
Chromosome 8Q21.11 Deletion Syndrome	Epicanthus, Cataract, Sclerocornea, Wide nasal bridge, Microphthalmia, Downslanted palpebral fiss...	OMIM:614230
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Corneal dystrophy, Upslanted palpebral fissure, Patchy alopecia, Sparse hair, Short palpebral fis...	OMIM:617763
Aplasia Cutis-Myopia Syndrome	Skin ulcer	ORPHA:1117
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia, Cataract	OMIM:251270
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Recurrent pneumonia, Pyoderma gangrenosum, Bronchiectasis, Recurrent aphthous stomatitis, Chronic...	OMIM:150550
Walker-Warburg Syndrome	Anophthalmia, Corneal opacity, Cataract, Microcornea, Microphthalmia, Iris coloboma	ORPHA:899
Celiac Disease, Susceptibility To, 1	Alopecia, Eczema, Thyroiditis, Weight loss, Recurrent aphthous stomatitis, Stomatitis, Failure to...	OMIM:212750
Fuchs Endothelial Corneal Dystrophy	Corneal opacity, Edema, Abnormal Descemet membrane morphology, Abnormal corneal endothelium morph...	ORPHA:98974
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal stromal edema, Corneal opacity, Corneal guttata	OMIM:613267
Oculotrichoanal Syndrome	Anophthalmia, Abnormal hair pattern, Upper eyelid coloboma, Nasolacrimal duct obstruction, Microp...	ORPHA:2717
Immunodeficiency 7	Hypereosinophilia, Patchy alopecia, Chronic oral candidiasis, Recurrent otitis media, Failure to ...	OMIM:615387
Otodental Syndrome	Cataract, Lens coloboma, Microcornea, Periodontitis, Otitis media with effusion, Retinal coloboma...	ORPHA:2791
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Aniridia, Telecanthus, Corneal opacity, Developmental glaucoma	ORPHA:1064
Oculocerebrorenal Syndrome Of Lowe	Sparse scalp hair, Cataract, Corneal opacity, Abnormal pupil morphology, Cheilitis, Skin ulcer, F...	ORPHA:534
Distal Deletion 6P	Epicanthus, Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of...	ORPHA:96125
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Epicanthus, Increased nuchal translucency, Recurrent otitis media, Microphthalmia, Oligohydramnios	OMIM:618494
Dyskeratosis Congenita, Autosomal Recessive 6	Sparse hair, Alopecia, Failure to thrive, Nail dystrophy	OMIM:616353
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Optic disc colobom...	OMIM:120200
Mietens Syndrome	Cataract, Corneal opacity, Sclerocornea, Wide nasal bridge, Microcornea, Short nose	ORPHA:2557
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Infantile Myofibromatosis	Abnormal hair morphology, Skin ulcer	ORPHA:2591
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Alopecia, Psoriasiform dermatitis, Alopecia totalis, Recurrent pneumonia, Thyroiditis, Bronchiect...	ORPHA:293978
Autosomal Dominant Severe Congenital Neutropenia	Recurrent skin infections, Pneumonia, Eosinophilia, Pyoderma gangrenosum, Rhinitis, Periodontitis...	ORPHA:486
Orofaciodigital Syndrome Type 1	Epicanthus, Brittle hair, Telecanthus, Alopecia, Multicystic kidney dysplasia, Pancreatic cysts, ...	ORPHA:2750
Mosaic Trisomy 1	Hypoplastic thumbnail, Polyhydramnios, Increased nuchal translucency, Wide nasal bridge, Renal cy...	ORPHA:1692
Juvenile Sialidosis Type 2	Cataract, Corneal opacity, Generalized hypertrichosis	ORPHA:93399
Leigh Syndrome	Ptosis, Alopecia, Cataract, Eczema, Frontal hirsutism, Failure to thrive, Hypertrichosis	ORPHA:506
Congenital Hereditary Endothelial Dystrophy Type Ii	Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as...	ORPHA:293603
Leprechaunism	Thickened skin, Acanthosis nigricans, Hyperkeratosis, Decreased body weight, Facial hypertrichosi...	ORPHA:508
Ophthalmomandibulomelic Dysplasia	Megalocornea, Corneal opacity	ORPHA:2741
Ollier Disease	Skin ulcer	ORPHA:296
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia, Developmental cataract	OMIM:613155
Keutel Syndrome	Recurrent otitis media, Alopecia, Recurrent sinusitis	ORPHA:85202
Cushing Disease	Sparse scalp hair, Striae distensae, Acne, Increased body weight, Recurrent cutaneous fungal infe...	ORPHA:96253
Hemochromatosis, Type 1	Pleural effusion, Alopecia, Ascites	OMIM:235200
Lissencephaly 8	Microphthalmia, Cataract	OMIM:617255
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia, Cataract, Cystic renal dysplasia	OMIM:613730
Acrofrontofacionasal Dysostosis 1	Iris atrophy, Long eyebrows, Widow's peak, Wide nasal bridge, Long eyelashes, S-shaped palpebral ...	OMIM:201180
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Symblepharon, Recurrent loss of toenails and fingernails, Skin ulcer, Nail dystrophy, Corneal pte...	OMIM:245660
Progeria-Short Stature-Pigmented Nevi Syndrome	Alopecia, Cataract, Small for gestational age, Band keratopathy, Low posterior hairline	ORPHA:2959
Microphthalmia, Isolated 8	Anophthalmia, Entropion, Optic nerve hypoplasia, Retinal coloboma, Microphthalmia, True anophthal...	OMIM:615113
Satoyoshi Syndrome	Alopecia, Alopecia universalis	OMIM:600705
Vitamin D-Dependent Rickets, Type 2A	Epicanthus, Failure to thrive, Wide nasal bridge, Alopecia universalis	OMIM:277440
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Short nose, Polyhydramnios	ORPHA:2547
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Polyhydramnios, Large for gestational age, Seborrheic dermatitis, Hydrops fetalis, Upslanted palp...	OMIM:300868
Nestor-Guillermo Progeria Syndrome	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Dry skin, Nail dystrophy, Failure ...	OMIM:614008
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Telecanthus, Corneal opacity, Synophrys, Thin eyebrow, Small nail, Microphthalmia, Failure to thr...	OMIM:608670
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Iridocyclitis, Alopecia, Pancreatitis	ORPHA:412057
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Conge...	ORPHA:83461
Trisomy 18	Epicanthus, Cataract, Cyclopia, Cachexia, Oligohydramnios, Microcornea, Webbed neck, Blepharophim...	ORPHA:3380
Histiocytoid Cardiomyopathy	Corneal opacity, Renal cyst, Polycystic ovaries, Pallor, Microphthalmia, Megalocornea, Failure to...	ORPHA:137675
Ohdo Syndrome, X-Linked	Epicanthus, Sparse eyebrow, Wide nasal bridge, Decreased body weight, Blepharophimosis, Microphth...	OMIM:300895
Norrie Disease	Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham...	OMIM:310600
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Astigmatism, Pallor, Decreased body weight, Microphthalmia	OMIM:609053
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Sparse eyelashes, Sparse eyebrow, Unilateral microphthalmos, Alopecia of scalp, Failure to thrive...	OMIM:618874
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Alopecia	OMIM:612079
Microphthalmia With Linear Skin Defects Syndrome	Posterior embryotoxon, Anophthalmia, Abnormal nasolacrimal system morphology, Corneal opacity, Sc...	ORPHA:2556
Blau Syndrome	Pericarditis, Cataract, Skin rash, Keratitis, Retrobulbar optic neuritis, Erythema nodosum, Irido...	ORPHA:90340
Curry-Jones Syndrome	Microphthalmia, Iris coloboma, Optic disc coloboma, Generalized hirsutism	ORPHA:1553
Xeroderma Pigmentosum, Complementation Group D	Entropion, Cataract, Keratitis, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, Corne...	OMIM:278730
Limited Cutaneous Systemic Sclerosis	Skin ulcer	ORPHA:220402
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Linear Nevus Sebaceus Syndrome	Alopecia, Microphthalmia, Telecanthus, Iris coloboma	ORPHA:2612
Dyskeratosis Congenita, Digenic	Alopecia, Sparse eyelashes, Bilateral ptosis, Nail dystrophy, Failure to thrive	OMIM:620040
Yao Syndrome	Inflammatory abnormality of the skin, Pericarditis, Skin rash, Xerostomia, Weight loss, Arthritis...	OMIM:617321
3Mc Syndrome 3	Corneal opacity, Highly arched eyebrow, Blepharophimosis, Epicanthus inversus, Ptosis	OMIM:248340
Cystinosis	Failure to thrive, Corneal opacity, Dehydration	ORPHA:213
2Q31.1 Microdeletion Syndrome	Epicanthus, Abnormal hair morphology, Hypoplastic toenails, Synophrys, Optic disc coloboma, Low a...	ORPHA:251014
Behcet Syndrome	Erythema nodosum, Iridocyclitis, Epididymitis, Erythema, Arthritis, Patchy alopecia, Iritis, Hypo...	OMIM:109650
Hypergonadotropic Hypogonadism And Partial Alopecia	Alopecia	OMIM:241090
Martsolf Syndrome 1	Epicanthus, Cataract, Low anterior hairline, Low posterior hairline, Developmental cataract, Micr...	OMIM:212720
Congenital Muscular Dystrophy With Cerebellar Involvement	Cataract, Optic nerve hypoplasia, Abnormality iris morphology, Coloboma, Microphthalmia, Megaloco...	ORPHA:370959
Brittle Cornea Syndrome 2	Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor...	OMIM:614170
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Granulomatosis With Polyangiitis	Episcleritis, Sinusitis, Keratitis, Uveitis, Weight loss, Skin ulcer, Conjunctivitis, Chronic oti...	OMIM:608710
Warburg Micro Syndrome 2	Cataract, Low anterior hairline, Developmental cataract, Microcornea, Microphthalmia, Short nose	OMIM:614225
Beta-Thalassemia	Pallor, Hepatitis, Skin ulcer	ORPHA:848
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Seborrheic dermatitis, Truncal obesity, Aspiration pneumonia, Ichthyosis, Ascites	OMIM:301072
Moebius Syndrome	Microphthalmia, Congenital fibrosis of extraocular muscles, Epicanthus, Abnormality of the nail	OMIM:157900
Kikuchi-Fujimoto Disease	Alopecia, Skin rash, Palpebral edema, Pruritus, Myocarditis, Pustule, Erythema, Weight loss, Pleu...	ORPHA:50918
Epithelial Recurrent Erosion Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera...	ORPHA:293381
Frontorhiny	Epicanthus, Cataract, Widow's peak, Microphthalmia, Iris coloboma, Ptosis	ORPHA:391474
Microphthalmia, Lenz Type	Cataract, Optic disc coloboma, Ankyloblepharon, Microcornea, Chorioretinal coloboma, Webbed neck,...	ORPHA:568
Lmna-Related Cardiocutaneous Progeria Syndrome	Absent eyebrow, Absent eyelashes, Premature graying of hair, Sparse hair, Scleroderma, Premature ...	ORPHA:363618
Dyskeratosis Congenita, Autosomal Dominant 3	Alopecia, Fine hair, Premature graying of hair, Nail dysplasia, Dry skin	OMIM:613990
Braddock-Carey Syndrome 2	Microphthalmia, Downslanted palpebral fissures	OMIM:619981
Scheie Syndrome	Corneal opacity	OMIM:607016
Sympathetic Ophthalmia	Alopecia, Cataract, Poliosis, Erythema, Macular edema, Anterior chamber cells, Posterior synechia...	ORPHA:79098
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Dry skin, Fine hair, Renal cyst, Hyperkerato...	OMIM:210710
Peroxisome Biogenesis Disorder 2A (Zellweger)	Epicanthus, Cataract, Palpebral edema, Brushfield spots, Upslanted palpebral fissure, Polycystic ...	OMIM:214110
Basel-Vanagaite-Smirin-Yosef Syndrome	Sparse scalp hair, Epicanthus, Sparse eyebrow, Recurrent pneumonia, Developmental cataract, Micro...	ORPHA:464738
Teebi-Shaltout Syndrome	Telecanthus, Slow-growing hair, Highly arched eyebrow, Low anterior hairline, Wide nasal bridge, ...	OMIM:272950
Neutrophilic Dermatosis, Acute Febrile	Erythema, Pyoderma gangrenosum, Panniculitis, Cystic acne, Acne inversa	OMIM:608068
Hurler Syndrome	Corneal opacity, Wide nasal bridge, Rhinitis, Generalized hirsutism, Thick eyebrow	ORPHA:93473
Wiedemann-Rautenstrauch Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Small nail, Sparse eyelashes, Pneumon...	OMIM:264090
Rat-Bite Fever	Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca...	ORPHA:31205
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Cataract, Optic nerve hypoplasia	OMIM:615181
Kyphoscoliotic Ehlers-Danlos Syndrome	Epicanthus, Synophrys, Microcornea, Thin skin, Follicular hyperkeratosis, Downslanted palpebral f...	ORPHA:536545
Neuroocular Syndrome	Brittle hair, Synophrys, Lens coloboma, Microcornea, Iris coloboma, Hooded upper eyelid, Hypoplas...	OMIM:619539
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Chorioretinal colobom...	ORPHA:231736
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia	ORPHA:1528
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Foot osteomyelitis, Osteomyelitis, Acral ulceration, Cataract	OMIM:162400
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Corneal opacity, Eosinophilia, Cataract, Seborrheic dermatitis, Panc...	OMIM:274000
Autosomal Dominant Hypocalcemia	Alopecia, Abnormal fingernail morphology, Eczema, Dry skin, Abnormality of the nail	ORPHA:428
Fryns Syndrome	Multicystic kidney dysplasia, Corneal opacity, Polyhydramnios, Wide nasal bridge, Microphthalmia,...	ORPHA:2059
Biotinidase Deficiency	Skin rash, Alopecia, Eczematoid dermatitis, Conjunctivitis	ORPHA:79241
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Cataract, Corneal scarring, Buphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:212550
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Wiedemann-Rautenstrauch Syndrome	Sparse scalp hair, Entropion, Recurrent skin infections, Optic disc hypoplasia, Cataract, Lagopht...	ORPHA:3455
Chromosome 1Q41-Q42 Deletion Syndrome	Supernumerary nipple, Sparse eyebrow, Upslanted palpebral fissure, Small nail, Microphthalmia, Do...	OMIM:612530
Mucopolysaccharidosis Type 3	Cataract, Corneal opacity, Thick hair, Synophrys, Coarse hair, Otitis media, Aspiration pneumonia...	ORPHA:581
Immunoglobulin A Vasculitis	Episcleritis, Skin rash, Edema, Orchitis, Pustule, Angioedema, Erythema, Skin ulcer, Arthritis, I...	ORPHA:761
Autoimmune Polyendocrinopathy Type 2	Alopecia, Hashimoto thyroiditis	ORPHA:3143
Al-Gazali Syndrome	Corneal opacity, Sclerocornea, Polyhydramnios, Recurrent pneumonia, Failure to thrive	OMIM:609465
Mosaic Variegated Aneuploidy Syndrome	Multicystic kidney dysplasia, Epicanthus, Corneal opacity, Cataract, Polyhydramnios, Increased nu...	ORPHA:1052
Fontaine Progeroid Syndrome	Redundant skin, Synophrys, Low anterior hairline, Coarse hair, Recurrent aspiration pneumonia, Sm...	OMIM:612289
Amoebiasis Due To Free-Living Amoebae	Unusual skin infection, Sinusitis, Pneumonia, Pustule, Skin ulcer, Corneal perforation, Conjuncti...	ORPHA:68
Graft Versus Host Disease	Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ga...	ORPHA:39812
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Severe Generalized Junctional Epidermolysis Bullosa	Alopecia, Multicystic kidney dysplasia, Recurrent skin infections, Pneumonia, Edema, Paronychia, ...	ORPHA:79404
Acquired Purpura Fulminans	Pyoderma gangrenosum, Skin rash, Macular purpura	ORPHA:49566
Multicentric Osteolysis, Nodulosis, And Arthropathy	Thickened skin, Peripheral opacification of the cornea, Corneal opacity, Hirsutism	OMIM:259600
Aniridia 1	Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia...	OMIM:106210
Schimke Immuno-Osseous Dysplasia	Corneal opacity, Small for gestational age, Minimal change glomerulonephritis, Failure to thrive,...	ORPHA:1830
Satoyoshi Syndrome	Abnormal hair morphology, Sparse or absent eyelashes, Alopecia universalis	ORPHA:3130
Autosomal Recessive Robinow Syndrome	Epicanthus, Alopecia, Multicystic kidney dysplasia, Wide nasal bridge, Upslanted palpebral fissur...	ORPHA:1507
Galloway-Mowat Syndrome 1	Ptosis, Epicanthus, Cataract, Small for gestational age, Hypoplasia of the iris, Small nail, Opac...	OMIM:251300
Calciphylaxis	Abnormality of skin physiology, Skin ulcer	ORPHA:280062
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Abnormal hair morphology, Nail dystrophy, Thin skin, Short nose	ORPHA:90154
Familial Multiple Nevi Flammei	Skin ulcer, Edema	ORPHA:624
Manitoba Oculotrichoanal Syndrome	Anophthalmia, Nasolacrimal duct obstruction, Eyelid coloboma, Microphthalmia, Cryptophthalmos, Ab...	OMIM:248450
Orofaciodigital Syndrome I	Epicanthus, Telecanthus, Dry hair, Alopecia, Pancreatic cysts, Wide nasal bridge, Ovarian cyst, P...	OMIM:311200
Tangier Disease	Dry skin, Corneal opacity, Nail dystrophy, Ectropion	ORPHA:31150
Complement Component 5 Deficiency	Generalized seborrheic dermatitis	OMIM:609536
Mandibuloacral Dysplasia With Type B Lipodystrophy	Sparse hair, Alopecia, Brittle hair, Short nose	OMIM:608612
Livedoid Vasculopathy	Superficial dermal perivascular inflammatory infiltrate, Recurrent skin infections, Skin ulcer, P...	ORPHA:542643
Multiple Sulfatase Deficiency	Periorbital edema, Corneal opacity, Ichthyosis	OMIM:272200
Sweet Syndrome	Predominantly dermal neutrophilic infiltrate, Myositis, Acne, Pustule, Oligoarthritis, Pyoderma g...	ORPHA:3243
Tetraamelia-Multiple Malformations Syndrome	Multicystic kidney dysplasia, Septo-optic dysplasia, Cataract, Polyhydramnios, Microcornea, Micro...	ORPHA:3301
Wiskott-Aldrich Syndrome	Sinusitis, Abnormal eosinophil morphology, Eczema, Keratitis, Skin ulcer, Arthritis, Inflammation...	ORPHA:906
Nance-Horan Syndrome	Microcornea, Microphthalmia, Cataract	ORPHA:627
Dyrk1A-Related Intellectual Disability Syndrome	Small for gestational age, Eczema, Corneal opacity, Renal cyst, Astigmatism, Failure to thrive, B...	ORPHA:464306
Moebius Syndrome	Epicanthus, Corneal opacity, Breast aplasia, Blepharitis, Ptosis	ORPHA:570
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Panniculitis, Skin ulcer, Weight loss	ORPHA:86884
Joubert Syndrome 22	Microphthalmia, Coloboma	OMIM:615665
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Alopecia, Iridocyclitis, Xerostomia, Hepatitis, Chronic mucocutaneous candidi...	ORPHA:227990
Encephalocraniocutaneous Lipomatosis	Alopecia, Abnormal nasolacrimal system morphology, Corneal opacity, Abnormal eyelid morphology, A...	ORPHA:2396
Gelatinous Drop-Like Corneal Dystrophy	Subepithelial corneal opacities, Central opacification of the cornea, Blepharospasm, Conjunctival...	ORPHA:98957
Developmental And Epileptic Encephalopathy 1	Microphthalmia	OMIM:308350
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Alopecia	OMIM:600785
Fish-Eye Disease	Opacification of the corneal stroma	OMIM:136120
Papillorenal Syndrome	Multicystic kidney dysplasia, Cataract, Edema, Lens luxation, Optic disc coloboma, Orbital cyst, ...	OMIM:120330
Holocarboxylase Synthetase Deficiency	Alopecia, Skin rash	OMIM:253270
Monosomy 9P	Epicanthus, Thin nail, Highly arched eyebrow, Synophrys, Low posterior hairline, Upslanted palpeb...	ORPHA:261112
Myhre Syndrome	Cataract, Small for gestational age, Pericardial effusion, Thickened skin, Obesity, Fine hair, Na...	OMIM:139210
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Ocular albinism, Wide nasal bridge, Upslanted palpebral fissure, Blepharophimosis, Microphthalmia	ORPHA:1352
Chronic Granulomatous Disease	Sinusitis, Eczema, Skin ulcer, Otitis media, Inflammatory abnormality of the eye	ORPHA:379
Mucopolysaccharidosis Type 7	Corneal opacity, Lymphedema, Hepatitis, Hydrops fetalis, Ascites	ORPHA:584
Cousin Syndrome	Low anterior hairline, Microcornea, Narrow palpebral fissure, Facial hirsutism, Blepharophimosis,...	OMIM:260660
Chromosome 17Q12 Duplication Syndrome	Microphthalmia, Downslanted palpebral fissures, Peters anomaly	OMIM:614526
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Alopecia, Iridocyclitis, Xerostomia, Hepatitis, Chronic mucocutaneous candidi...	ORPHA:227982
Ritscher-Schinzel Syndrome 3	Microphthalmia, Downslanted palpebral fissures, Highly arched eyebrow, Chorioretinal coloboma	OMIM:619135
Skin Creases, Congenital Symmetric Circumferential, 2	Epicanthus, Synophrys, Low anterior hairline, Wide nasal bridge, Upslanted palpebral fissure, Mic...	OMIM:616734
Cowden Syndrome	Cataract, Conjunctival hamartoma, Enlarged polycystic ovaries, Palmoplantar keratoderma, Failure ...	ORPHA:201
Neuropathy, Hereditary Sensory And Autonomic, Type Ic	Osteomyelitis, Skin ulcer	OMIM:613640
Craniotelencephalic Dysplasia	Microphthalmia, Optic nerve hypoplasia	OMIM:218670
Treacher-Collins Syndrome	Cataract, Absent eyelashes, Abnormal hair morphology, Low anterior hairline, Wide nasal bridge, B...	ORPHA:861
Charcot-Marie-Tooth Disease Type 4B2	Cataract, Developmental glaucoma, Penetrating foot ulcers, Buphthalmos, Ptosis	ORPHA:99956
3Q29 Microdeletion Syndrome	Cataract, Microphthalmia, Short nose, Failure to thrive, Downslanted palpebral fissures	ORPHA:65286
Dominant Beta-Thalassemia	Failure to thrive in infancy, Skin ulcer, Chronic hepatitis, Upslanted palpebral fissure, Pallor	ORPHA:231226
Primary Sjögren Syndrome	Myositis, Chronic active hepatitis, Glomerulonephritis, Lymphocytic interstitial pneumonia, Eryth...	ORPHA:289390
Mucopolysaccharidosis Type 1	Sinusitis, Corneal opacity, Low anterior hairline, Chronic otitis media, Generalized hirsutism	ORPHA:579
Cockayne Syndrome B	Dry hair, Small for gestational age, Abnormal hair morphology, Dry skin, Developmental cataract, ...	OMIM:133540
Stevenson-Carey Syndrome	Microphthalmia, Coloboma, Downslanted palpebral fissures	OMIM:611961
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Coloboma, Cataract, Abnormally large globe	OMIM:615249
Brachyolmia Type 1, Toledo Type	Opacification of the corneal stroma	OMIM:271630
Autosomal Dominant Robinow Syndrome	Epicanthus, Alopecia, Onychogryposis of fingernail, Curly eyelashes, Wide nasal bridge, Upslanted...	ORPHA:3107
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Lens coloboma, Webbed neck	OMIM:618914
Pelvis-Shoulder Dysplasia	Bilateral microphthalmos, Microcornea, Retinal coloboma, Facial hirsutism, Iris coloboma, Short p...	ORPHA:2839
Pelvis-Shoulder Dysplasia	Microphthalmia, Optic disc coloboma, Iris coloboma, Opacification of the corneal stroma	OMIM:169550
Hutchinson-Gilford Progeria Syndrome	Absent eyebrow, Corneal opacity, Alopecia totalis, Nocturnal lagophthalmos, Osteoarthritis, Loss ...	ORPHA:740
Stromme Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Wide nasal bridge, Microcornea, Peters anomaly, M...	OMIM:243605
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Cataract, Corneal opacity, Optic nerve hypoplasia, Buphthalmos, Coloboma, Peters anomaly, Microph...	OMIM:236670
Fryns Syndrome	Polyhydramnios, Large for gestational age, Wide nasal bridge, Renal cyst, Narrow palpebral fissur...	OMIM:229850
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Epicanthus, Cataract, Sparse eyelashes, Sparse eyebrow, Widow's peak, Wide nasal bridge, Eyelid c...	ORPHA:306542
Proteus Syndrome	Central heterochromia, Generalized hyperkeratosis, Cataract, Cachexia, Lymphedema, Retinal hamart...	ORPHA:744
Fraser Syndrome 1	Absent eyebrow, Anophthalmia, Corneal opacity, Absent eyelashes, Bilateral microphthalmos, Extens...	OMIM:219000
Plague	Chapped lip, Skin rash, Edema, Erythema nodosum, Lymphadenitis, Enterocolitis, Endocarditis, Skin...	ORPHA:707
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Alopecia, Acne, Hirsutism, Polycystic ovaries	ORPHA:90795
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy	Alopecia	OMIM:600142
Localized Scleroderma	Fasciitis, Abnormal skin adnexa morphology, Thickened skin, Erythema, Uveitis, Arthritis, Patchy ...	ORPHA:90289
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,...	OMIM:601552
Alpha-Mannosidosis, Adult Form	Cataract, Corneal opacity, Pneumonia	ORPHA:309288
3P25.3 Microdeletion Syndrome	Blepharophimosis, Microphthalmia, Epicanthus, Downslanted palpebral fissures	ORPHA:435638
Kapur-Toriello Syndrome	Cataract, Low posterior hairline, Retinal coloboma, Microphthalmia, Iris coloboma	OMIM:244300
Cerebrooculofacioskeletal Syndrome 4	Blepharophimosis, Bilateral microphthalmos, Failure to thrive in infancy, Decreased body weight	OMIM:610758
Marden-Walker Syndrome	Blepharophimosis, Microphthalmia, Epicanthus, Ptosis	OMIM:248700
Curry-Jones Syndrome	Blepharophimosis, Microphthalmia, High anterior hairline, Iris coloboma, Hirsutism	OMIM:601707
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia, Failure to thrive, Lacrimal duct atresia, Sclerocornea	OMIM:300952
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Anophthalmia, Iris coloboma, Sclerocornea	ORPHA:77298
Amoebic Keratitis	Anterior uveitis, Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anteri...	ORPHA:67043
Fibrodysplasia Ossificans Progressiva	Alopecia	OMIM:135100
Neuropathy, Hereditary Sensory And Autonomic, Type Iib	Osteomyelitis, Acral ulceration	OMIM:613115
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Corneal opacity, Coloboma, Ectopia pupillae, Lens subluxation, Microphthalmia	ORPHA:85167
Schimke Immunoosseous Dysplasia	Small for gestational age, Wide nasal bridge, Fine hair, Coarse hair, Astigmatism, Opacification ...	OMIM:242900
Adrenoleukodystrophy	Alopecia	OMIM:300100
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Abnormal eyebrow morphology, Alopecia, Sparse facial hair, Sparse eyebrow, Sparse pubic hair, Alo...	ORPHA:2232
Axenfeld-Rieger Syndrome, Type 2	Telecanthus, Wide nasal bridge, Microcornea, Opacification of the corneal stroma, Anterior chambe...	OMIM:601499
Hereditary Spherocytosis	Skin ulcer, Maculopapular exanthema, Pallor, Gout	ORPHA:822
Interstitial Granulomatous Dermatitis With Arthritis	Pruritus, Inflammatory abnormality of the skin, Erythema, Rheumatoid arthritis	ORPHA:79099
Mucopolysaccharidosis, Type Vi	Thickened skin, Corneal opacity, Pneumonia, Hirsutism	OMIM:253200
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia, Decreased body weight	OMIM:614833
Congenital Fibrinogen Deficiency	Microphthalmia, Abnormality of the subungual region, Hemorrhagic ovarian cyst, Developmental cata...	ORPHA:335
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
Seckel Syndrome 2	Microphthalmia, Small for gestational age	OMIM:606744
Momo Syndrome	Epicanthus, Hyperconvex nail, Large for gestational age, Bilateral microphthalmos, Obesity, Eyeli...	ORPHA:2563
Sanjad-Sakati Syndrome	Aplasia/Hypoplasia affecting the eye, Corneal opacity, Astigmatism	ORPHA:2323
Attenuated Chédiak-Higashi Syndrome	Ocular albinism, Skin ulcer	ORPHA:352723
1Q21.1 Microdeletion Syndrome	Epicanthus, Cataract, Wide nasal bridge, Microphthalmia, Failure to thrive, Iris coloboma	ORPHA:250989
Gracile Bone Dysplasia	Aniridia, Ascites, Failure to thrive, Microphthalmia	OMIM:602361
Stuve-Wiedemann Syndrome 1	Thin skin, Opacification of the corneal stroma, Sparse hair, Premature skin wrinkling, Short palp...	OMIM:601559
Galloway-Mowat Syndrome 3	Epicanthus, Edema, Microphthalmia, Failure to thrive, Downslanted palpebral fissures, Oligohydram...	OMIM:617729
Holoprosencephaly	Epicanthus, Anophthalmia, Failure to thrive in infancy, Highly arched eyebrow, Synophrys, Upslant...	ORPHA:2162
Wolf-Hirschhorn Syndrome	Epicanthus, Megalocornea, Highly arched eyebrow, Sclerocornea, Wide nasal bridge, Low posterior h...	ORPHA:280
Granulomatosis With Polyangiitis	Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Periorbital edema, Skin ulce...	ORPHA:900
Kapur-Toriello Syndrome	Microphthalmia, Failure to thrive, Retinal coloboma, Iris coloboma	ORPHA:2328
Smith-Lemli-Opitz Syndrome	Epicanthus, Hypopigmentation of hair, Multicystic kidney dysplasia, Cataract, Polyhydramnios, Scl...	ORPHA:818
Dyskeratosis Congenita, Autosomal Dominant 1	Ridged nail, Alopecia, Nail pits, Premature graying of hair, Interstitial pneumonitis, Nail dystr...	OMIM:127550
Oculoectodermal Syndrome	Epicanthus, Supernumerary nipple, Lymphedema, Wide nasal bridge, Microcornea, Eyelid coloboma, As...	OMIM:600268
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Skin rash, Eczema, Erythema nodosum, Skin ulcer, Arthritis, Panniculitis, Recurrent sinusitis, Re...	OMIM:615688
Malakoplakia	Inflammatory abnormality of the skin, Skin rash, Pruritus, Orchitis, Urinary bladder inflammation...	ORPHA:556
Adult Polyglucosan Body Disease	Skin ulcer	ORPHA:206583
Gm1-Gangliosidosis, Type Iii	Opacification of the corneal stroma	OMIM:230650
Microphthalmia, Syndromic 5	Anophthalmia, Cataract, Optic nerve hypoplasia, Microcornea, Coloboma, Microphthalmia	OMIM:610125
Neurocardiofaciodigital Syndrome	Cataract, Small for gestational age, Sclerocornea, Sparse eyebrow, Narrow palpebral fissure, Spar...	OMIM:619869
Vitreoretinochoroidopathy	Microcornea, Microphthalmia, Pulverulent cataract, Developmental cataract	OMIM:193220
Sarcoidosis	Alopecia, Cataract, Maculopapular exanthema, Eosinophilia, Erythema nodosum, Dacryocystitis, Enla...	ORPHA:797
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Epicanthus, Widow's peak, Renal cyst, Upslanted palpebral fissure, Coloboma, Small nail, Peters a...	OMIM:616975
Autosomal Dominant Cutis Laxa	Dermal translucency, Redundant neck skin, Corneal opacity, Redundant skin, Bronchiectasis, Pyelon...	ORPHA:90348
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Recurrent otitis media, Microphthalmia, Blepharophimosis, Ptosis	ORPHA:2728
Alpha-Mannosidosis, Infantile Form	Cataract, Corneal opacity, Pneumonia, Highly arched eyebrow, Astigmatism, Otitis media	ORPHA:309282
Digeorge Syndrome	Acne, Sclerocornea, Seborrheic dermatitis, Blepharophimosis, Recurrent pneumonia, Obesity, Ovaria...	OMIM:188400
Lathosterolosis	Epicanthus, Cataract, Microcornea, Opacification of the corneal stroma, Short nose, Failure to th...	ORPHA:46059
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Acro-Renal-Ocular Syndrome	Epicanthus, Cataract, Optic disc hypoplasia, Optic disc coloboma, Microcornea, Coloboma, Choriore...	ORPHA:959
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Small for gestational age, Corneal opacity, Polyhydramnios, Renal cyst, Astigmatism, Failure to t...	ORPHA:464311
Idiopathic Uveal Effusion Syndrome	Microphthalmia, Abnormal anterior eye segment morphology	ORPHA:209956
Yunis-Varon Syndrome	Sparse scalp hair, Redundant neck skin, Sparse eyelashes, Cataract, Polyhydramnios, Sclerocornea,...	ORPHA:3472
Cockayne Syndrome	Dry hair, Cataract, Cachexia, Band keratopathy, Fine hair, Developmental cataract, Keratoconjunct...	ORPHA:191
Hutchinson-Gilford Progeria Syndrome	Alopecia	OMIM:176670
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Epicanthus, Absent nipple, Polyhydramnios, Sparse eyebrow, Optic disc coloboma, Wide nasal bridge...	OMIM:620186
Familial Exudative Vitreoretinopathy	Microphthalmia, Macular edema, Cataract, Lymphedema	ORPHA:891
Granular Corneal Dystrophy Type Ii	Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,...	ORPHA:98963
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Pericardial effusion, Small for gestational age, Alopecia totalis	OMIM:618775
Peroxisome Biogenesis Disorder 5A (Zellweger)	Epicanthus, Cataract, Small for gestational age, Palpebral edema, Brushfield spots, Renal cyst, H...	OMIM:614866
Diffuse Cutaneous Systemic Sclerosis	Arthritis, Xerostomia, Skin ulcer	ORPHA:220393
Chromosome 13Q33-Q34 Deletion Syndrome	Microphthalmia, Epicanthus, Small for gestational age, Wide nasal bridge	OMIM:619148
Heart And Brain Malformation Syndrome	Microphthalmia, Wide nasal bridge, Polyhydramnios	OMIM:616920
Peroxisome Biogenesis Disorder 1A (Zellweger)	Epicanthus, Redundant neck skin, Cataract, Brushfield spots, Upslanted palpebral fissure, Opacifi...	OMIM:214100
Degcags Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Small for gestational age, Pneumonia, Poly...	OMIM:619488
Mend Syndrome	Telecanthus, Cataract, Upslanted palpebral fissure, Ichthyosis, Microphthalmia, Failure to thrive	ORPHA:401973
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Upslanted palpebral fissure, Patchy alopecia, Decreased body weight, Failure to thrive, Thick eye...	OMIM:300534
Mandibuloacral Dysplasia With Type A Lipodystrophy	Acanthosis nigricans, Sparse scalp hair, Alopecia, Onychogryposis	OMIM:248370
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia, Cryptophthalmos, Ankyloblepharon	OMIM:123570
Cushing Syndrome Due To Ectopic Acth Secretion	Sparse scalp hair, Striae distensae, Acne, Increased body weight, Recurrent cutaneous fungal infe...	ORPHA:99889
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Unilateral ptosis, Optic nerve hypoplasia, Almond-shaped palpebral fissure, Wide nasal bridge, Co...	ORPHA:508498
Pseudo-Torch Syndrome 1	Opacification of the corneal stroma, Failure to thrive, Petechiae, Cataract	OMIM:251290
Beta-Thalassemia Major	Upslanted palpebral fissure, Failure to thrive in infancy, Pallor, Skin ulcer	ORPHA:231214
Monosomy 9Q22.3	Epicanthus, Cataract, Large for gestational age, Microphthalmia, Short nose, Downslanted palpebra...	ORPHA:77301
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Granular Corneal Dystrophy Type I	Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of...	ORPHA:98962
Scheie Syndrome	Rhinitis, Corneal opacity	ORPHA:93474
Polyendocrine-Polyneuropathy Syndrome	Alopecia	ORPHA:453533
Ane Syndrome	Alopecia	ORPHA:157954
Dyskeratosis Congenita, X-Linked	Ridged nail, Split nail, Alopecia, Cataract, Sparse eyelashes, Pterygium of nails, Premature gray...	OMIM:305000
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Monosomy 13Q14	Epicanthus, Cataract, Wide nasal bridge, Webbed neck, Microphthalmia, Iris coloboma, Ptosis	ORPHA:1587
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia, Telecanthus, Iris coloboma, Supernumerary nipple	ORPHA:1236
Renpenning Syndrome 1	Epicanthus, Brittle hair, Telecanthus, Cataract, Wide nasal bridge, Upslanted palpebral fissure, ...	OMIM:309500
Proteasome-Associated Autoinflammatory Syndrome 1	Episcleritis, Sparse axillary hair, Erythema nodosum, Epididymitis, Erythema, Acanthosis nigrican...	OMIM:256040
Yunis-Varon Syndrome	Sparse scalp hair, Epicanthus, Absent nipple, Sparse eyelashes, Small for gestational age, Failur...	OMIM:216340
Hydrolethalus	Microphthalmia, Anophthalmia, Polyhydramnios	ORPHA:2189
Carpenter Syndrome 1	Epicanthus, Telecanthus, Obesity, Microcornea, Opacification of the corneal stroma	OMIM:201000
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia, Short nose	OMIM:300863
Turner Syndrome Due To Structural X Chromosome Anomalies	Epicanthus, Alopecia, Failure to thrive in infancy, Abnormal fingernail morphology, Lymphedema, H...	ORPHA:99413
Mosaic Monosomy X	Epicanthus, Alopecia, Failure to thrive in infancy, Abnormal fingernail morphology, Lymphedema, H...	ORPHA:99228
Monosomy X	Epicanthus, Alopecia, Failure to thrive in infancy, Abnormal fingernail morphology, Lymphedema, H...	ORPHA:99226
Turner Syndrome	Epicanthus, Alopecia, Failure to thrive in infancy, Abnormal fingernail morphology, Lymphedema, H...	ORPHA:881
Hypocalcemic Vitamin D-Resistant Rickets	Alopecia	ORPHA:93160
Mucopolysaccharidosis, Type Ivb	Corneal opacity, Opacification of the corneal stroma	OMIM:253010
Duane-Radial Ray Syndrome	Epicanthus, Cataract, Optic disc hypoplasia, Retinal coloboma, Microphthalmia, Iris coloboma, Pal...	OMIM:607323
Squamous Cell Carcinoma Of The Anal Canal	Skin ulcer	ORPHA:424019
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Corneal opacity, Cachexia, Skin ulcer, Bacterial endocarditis, Ecchymosis, Ptosis	ORPHA:2072
Witteveen-Kolk Syndrome	Medial flaring of the eyebrow, Epicanthus, Cataract, Small for gestational age, Eczema, Hyperconv...	OMIM:613406
Fanconi Anemia, Complementation Group C	Microphthalmia, Epicanthus, Small for gestational age, Anemic pallor	OMIM:227645
Mucolipidosis Ii Alpha/Beta	Epicanthus, Brittle hair, Palpebral edema, Sparse eyebrow, Recurrent pneumonia, Sparse hair, Opac...	OMIM:252500
Atelis Syndrome 2	Epicanthus, Remnants of the hyaloid vascular system, Developmental cataract, Microphthalmia, Dacr...	OMIM:620185
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Pneumonia, Osteomyelitis, Recurrent skin infections, Perianal ab...	ORPHA:2968
Mycophenolate Mofetil Embryopathy	Hypoplastic toenails, Hydrops fetalis, Eyelid coloboma, Chorioretinal coloboma, Microphthalmia, I...	ORPHA:268249
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Epicanthus, Cataract, Sutural cataract, Highly arched eyebrow, Frontal balding, Synophrys, Nuclea...	OMIM:612474
Macular Corneal Dystrophy	Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ...	ORPHA:98969
Lcat Deficiency	Corneal opacity	ORPHA:650
Catastrophic Antiphospholipid Syndrome	Myocarditis, Skin ulcer, Arthritis	ORPHA:464343
Distal Deletion 19P	Alopecia, Thick eyebrow	ORPHA:96129
Fish-Eye Disease	Corneal opacity	ORPHA:79292
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia, Hypoplasia of eyelid, Optic nerve hypoplasia, Abdominal obesity, Short nose	OMIM:619321
Phace Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Abnormality of the orbital region,...	ORPHA:42775
Systemic Lupus Erythematosus	Alopecia, Lupus nephritis, Discoid lupus rash, Cheilitis, Arthritis, Malar rash, Serositis	ORPHA:536
Pierson Syndrome	Rieger anomaly, Hypoplasia of the ciliary body, Remnants of the hyaloid vascular system, Cataract...	OMIM:609049
Williams Syndrome	Redundant skin, Hypoplastic toenails, Periorbital edema, Chronic otitis media, Megalocornea, Abno...	ORPHA:904
Bloom Syndrome	Skin rash, Pneumonia, Sparse eyelashes, Small for gestational age, Paronychia, Cheilitis, Uveitis...	ORPHA:125
Colchicine Poisoning	Myocarditis, Alopecia, Dehydration	ORPHA:31824
Nance-Horan Syndrome	Microcornea, Microphthalmia, Posterior Y-sutural cataract, Developmental cataract	OMIM:302350
Epidermodysplasia Verruciformis, Susceptibility To, 3	Epidermal acanthosis	OMIM:618267
Roberts-Sc Phocomelia Syndrome	Cataract, Corneal opacity, Polyhydramnios, Wide nasal bridge, Coloboma, Eyelid coloboma, Polycyst...	OMIM:268300
Solitary Median Maxillary Central Incisor	Microphthalmia, Coloboma, Cyclopia, Anophthalmia	OMIM:147250
Congenital Disorder Of Deglycosylation 1	Decreased body weight, Corneal opacity, Corneal ulceration, Ptosis	OMIM:615273
Leukocyte Adhesion Deficiency, Type I	Skin ulcer, Osteomyelitis, Periodontitis, Chronic mucocutaneous candidiasis	OMIM:116920
Bosma Arhinia Microphthalmia Syndrome	Cataract, Synophrys, Lacrimal duct atresia, Coloboma, Aplasia of the nose, Microphthalmia	OMIM:603457
Neurofibromatosis Type 1	Abnormal hair quantity, Cataract, Corneal opacity, Abnormal eyelid morphology, Chorioretinal colo...	ORPHA:636
Focal Facial Dermal Dysplasia Type Iv	Abnormal epidermal morphology	ORPHA:398189
Cockayne Syndrome Type 3	Dry hair, Cataract, Premature graying of hair, Microcornea, Keratoconjunctivitis sicca, Lentiglob...	ORPHA:90324
Joubert Syndrome 2	Optic disc coloboma, Renal cyst, Chorioretinal coloboma, Microphthalmia, Failure to thrive	OMIM:608091
Microcephaly-Micromelia Syndrome	Microphthalmia, Short palpebral fissure, Oligohydramnios	OMIM:251230
Dyschondrosteosis-Nephritis Syndrome	Corneal opacity	ORPHA:1765
Dyggve-Melchior-Clausen Disease	Failure to thrive, Corneal opacity	ORPHA:239
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia, Shallow anterior chamber	OMIM:305390
Familial Dysautonomia	Abnormal pupil morphology, Heterochromia iridis, Corneal erosion, Corneal opacity	ORPHA:1764
Osteopetrosis, Autosomal Recessive 8	Failure to thrive, Unilateral microphthalmos	OMIM:615085
Larsen Syndrome	Corneal opacity, Short nail, Shallow orbits	OMIM:150250
Beta-Thalassemia Intermedia	Pallor, Skin ulcer	ORPHA:231222
Peters Plus Syndrome	Multicystic kidney dysplasia, Cataract, Corneal opacity, Polyhydramnios, Peters anomaly, Upslante...	ORPHA:709
Fanconi Anemia	Epicanthus, Cataract, Abnormal eyelid morphology, Almond-shaped palpebral fissure, Oligohydramnio...	ORPHA:84
Woodhouse-Sakati Syndrome	Alopecia, Scaling skin, Aplasia/Hypoplasia of the eyebrow	ORPHA:3464
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, Oligohydramnios	OMIM:619053
Rutherfurd Syndrome	Corneal dystrophy, Opacification of the corneal stroma	OMIM:180900
Norrie Disease	Aplasia/Hypoplasia of the lens, Remnants of the hyaloid vascular system, Corneal opacity, Cachexi...	ORPHA:649
Microphthalmia, Syndromic 2	Anophthalmia, Remnants of the hyaloid vascular system, Phthisis bulbi, Developmental cataract, Mi...	OMIM:300166
Holoprosencephaly 7	Synophrys, Bilateral microphthalmos, Wide nasal bridge, Upslanted palpebral fissure, Shallow orbi...	OMIM:610828
Mucolipidosis Iii Gamma	Opacification of the corneal stroma	OMIM:252605
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Microphthalmia, Isolated, With Corectopia	Microphthalmia, Ectopia pupillae	OMIM:156900
Fraser Syndrome 2	Microphthalmia, Low anterior hairline, Cryptophthalmos, Oligohydramnios	OMIM:617666
Mucolipidosis Iii Alpha/Beta	Thickened skin, Hyperopic astigmatism, Opacification of the corneal stroma	OMIM:252600
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Cataract, Optic nerve hypoplasia, Sclerocornea, Coloboma, Micr...	OMIM:206900
Galactosialidosis	Conjunctival telangiectasia, Nonimmune hydrops fetalis, Opacification of the corneal stroma	OMIM:256540
Fanconi Anemia, Complementation Group F	Microphthalmia, Failure to thrive, Pneumonia, Polyhydramnios	OMIM:603467
Meckel Syndrome	Multicystic kidney dysplasia, Anophthalmia, Cataract, Sclerocornea, Pancreatic cysts, Aplasia/Hyp...	ORPHA:564
Cat Eye Syndrome	Epicanthus, Chorioretinal coloboma, Microphthalmia, Downslanted palpebral fissures, Iris coloboma	OMIM:115470
Ophthalmomandibulomelic Dysplasia	Megalocornea, Opacification of the corneal stroma	OMIM:164900
Mucopolysaccharidosis Type 6	Chronic otitis media, Failure to thrive, Sinusitis, Opacification of the corneal stroma	ORPHA:583
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Fanconi Anemia, Complementation Group E	Microphthalmia, Small for gestational age, Anemic pallor	OMIM:600901
Vascular Ehlers-Danlos Syndrome	Keratoconus, Dermal translucency, Telecanthus, Hypoplastic lacrimal duct, Epicanthus, Alopecia, R...	ORPHA:286
Fanconi Anemia, Complementation Group D2	Blepharophimosis, Microphthalmia, Small for gestational age, Anemic pallor	OMIM:227646
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Blepharophimosis, Microphthalmia, Cataract, Sparse hair	OMIM:620005
Basal Cell Nevus Syndrome 1	Cataract, Orbital cyst, Wide nasal bridge, Microphthalmia, Iris coloboma	OMIM:109400
Mucopolysaccharidosis Type 4	Corneal opacity	ORPHA:582
Neuropathy, Hereditary Sensory And Autonomic, Type V	Septic arthritis, Osteoarthritis, Osteomyelitis, Acral ulceration	OMIM:608654
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Epicanthus, Antecubital pterygium, Wide nasal bridge, Popliteal pterygium, Aplasia/Hypoplasia of ...	OMIM:609945
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cataract, Buphthalmos, Persistent pupillary membrane, Peters anomaly, Microphthalmia	OMIM:613150
Branchiooculofacial Syndrome	Telecanthus, Hypoplastic fingernail, Anophthalmia, Cataract, Supernumerary nipple, Nasolacrimal d...	OMIM:113620
Fanconi Anemia, Complementation Group A	Microphthalmia, Small for gestational age, Anemic pallor	OMIM:227650
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Failure to thrive, Osteomyelitis leading to amputation due to slow healing fractures, Corneal sca...	OMIM:256810
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Peters anomaly, Microp...	OMIM:614643
Gaucher Disease	Osteomyelitis, Corneal opacity, Osteoarthritis, Hepatitis, Hydrops fetalis, Ichthyosis	ORPHA:355
Neu-Laxova Syndrome 1	Ablepharon, Cataract, Polyhydramnios, Absent eyelashes, Ichthyosis, Microphthalmia, Pterygium, Ge...	OMIM:256520
African Trypanosomiasis	Pericarditis, Alopecia, Keratitis, Myocarditis, Pruritus, Weight loss, Optic neuritis, Conjunctiv...	ORPHA:3385
Viss Syndrome	Chronic gastritis, Ptosis, Sparse scalp hair, Alopecia, Eczema, Polyhydramnios, Hypereosinophilia...	OMIM:619472
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Eczema, Optic nerve hypoplasia, Bilateral microphthalmos, Wide nasal bridge, Abnormality of the o...	ORPHA:468631
Meckel Syndrome, Type 5	Microphthalmia, Renal cyst	OMIM:611561
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Sparse eyebrow, Microphthalmia, Renal cyst	OMIM:616300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia, Cataract	OMIM:616538
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Buphthalmos, Coloboma, Hypoplasia of the retina, Pallor, Opacification of the corneal s...	OMIM:253280
Roberts Syndrome	Cataract, Polyhydramnios, Polycystic kidney dysplasia, Sparse hair, Microphthalmia	ORPHA:3103
Pseudotrisomy 13 Syndrome	Upslanted palpebral fissure, Microphthalmia, Cyclopia	OMIM:264480
Fanconi Anemia, Complementation Group L	Upslanted palpebral fissure, Microphthalmia, Wide nasal bridge, Webbed neck	OMIM:614083
Matthew-Wood Syndrome	Anophthalmia, Microphthalmia, Failure to thrive	ORPHA:2470
Oculo-Palato-Cerebral Syndrome	Cataract, Remnants of the hyaloid vascular system, Leukocoria, Microphthalmia, Aplasia/Hypoplasia...	ORPHA:2714
Mosaic Trisomy 8	Corneal opacity	ORPHA:96061
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Opacification of the corneal stroma	OMIM:204850
Simple Cryoglobulinemia	Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Weight loss, Arthritis, ...	ORPHA:91139
Trichotillomania	Alopecia	OMIM:613229
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Small for gestational age, Opacification of the corneal stroma	OMIM:215250
Phace Association	Microphthalmia, Optic nerve hypoplasia, Horner syndrome, Developmental cataract	OMIM:606519
Steinert Myotonic Dystrophy	Alopecia, Polyhydramnios, Bilateral ptosis, Early balding, Posterior subcapsular cataract, Astigm...	ORPHA:273
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Opacification of the corneal stroma	OMIM:601356
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Alopecia, Long nose, Loss of eyelashes, Thin eyebrow, Sparse hair, Downslanted palpebral fissures	ORPHA:2636
Meckel Syndrome, Type 2	Microphthalmia, Renal cyst	OMIM:603194
Treacher Collins Syndrome 1	Sparse lower eyelashes, Lacrimal duct stenosis, Bilateral microphthalmos, Lower eyelid coloboma, ...	OMIM:154500
Van Den Ende-Gupta Syndrome	Blepharophimosis, Abnormal eyebrow morphology, Sclerocornea	OMIM:600920
Oculopalatocerebral Syndrome	Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria	OMIM:257910
Meckel Syndrome 14	Microphthalmia, Increased nuchal translucency, Polycystic kidney dysplasia, Oligohydramnios	OMIM:619879
Mowat-Wilson Syndrome	Cataract, Supernumerary nipple, Wide nasal bridge, Microcornea, Ectopia pupillae, Chorioretinal c...	OMIM:235730
Meckel Syndrome, Type 4	Microphthalmia, Renal cyst	OMIM:611134
Aicardi Syndrome	Cataract, Optic disc coloboma, Recurrent pneumonia, Microphthalmia, Sparse lateral eyebrow	OMIM:304050
Microphthalmia With Limb Anomalies	Abnormal eyebrow morphology, Blepharophimosis, Microphthalmia, Failure to thrive, True anophthalmia	ORPHA:1106
Focal Dermal Hypoplasia	Ridged nail, Brittle hair, Anophthalmia, Supernumerary nipple, Ectopia lentis, Patchy alopecia, A...	OMIM:305600
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Sclerocornea, Peters anomaly, Microphthalmia, Iris coloboma	OMIM:309801
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Paronychia, Acral ulceration	OMIM:201300
Lathosterolosis	Epicanthus, Cataract, Wide nasal bridge, Opacification of the corneal stroma, Short nose, Downsla...	OMIM:607330
Vacterl With Hydrocephalus	Microcornea, Microphthalmia, Anophthalmia, Polyhydramnios	ORPHA:3412
Cockayne Syndrome A	Dry hair, Cataract, Dry skin, Opacification of the corneal stroma, Sparse hair, Failure to thrive	OMIM:216400
Meckel Syndrome, Type 1	Oligohydramnios, Polycystic kidney dysplasia, Webbed neck, Microphthalmia, Epicanthus inversus, I...	OMIM:249000
Charge Syndrome	Epicanthus, Anophthalmia, Highly arched eyebrow, Polyhydramnios, Eyelid coloboma, Chorioretinal c...	ORPHA:138
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia	OMIM:241410
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Optic nerve hypoplasia	OMIM:617914
Chromosome 13Q14 Deletion Syndrome	Epicanthus, Supernumerary nipple, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:613884
Ring Chromosome 13 Syndrome	Alopecia, Epicanthus, Wide nasal bridge	ORPHA:96176
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Microphthalmia, Cataract	OMIM:253800
Wilson Disease	Edema, Osteoarthritis, Atypical or prolonged hepatitis, Pedal edema, Kayser-Fleischer ring, Ascites	OMIM:277900
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Corneal opacity, Polycoria, Developmental cataract, Hypoplasia of the iris, Microcornea, Ectopia ...	OMIM:175780
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Foot osteomyelitis, Acral ulceration	OMIM:256840
Osteogenesis Imperfecta	Corneal opacity, Osteoarthritis, Small for gestational age, Cutis laxa	ORPHA:666
Fraser Syndrome	Multicystic kidney dysplasia, Anophthalmia, Abnormal hair pattern, Wide nasal bridge, Lacrimal du...	ORPHA:2052
Pallister-Hall Syndrome	Microphthalmia, Short nose, Renal cyst, Nail dysplasia	OMIM:146510
Pallister-Killian Syndrome	Sparse scalp hair, Telecanthus, Epicanthus, Sparse eyelashes, Alopecia, Supernumerary nipple, Ede...	OMIM:601803
Aicardi Syndrome	Microphthalmia, Optic disc coloboma, Chorioretinal coloboma, Sparse lateral eyebrow	ORPHA:50
Apolipoprotein A-I Deficiency	Xanthelasma, Opacification of the corneal stroma	ORPHA:425
Adams-Oliver Syndrome 1	Microphthalmia, Alopecia, Small nail, Supernumerary nipple	OMIM:100300
Isolated Arrhinia	Microphthalmia, Eyelid coloboma, Aplasia of the nose	ORPHA:1134
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
Phakomatosis Pigmentokeratotica	Coloboma, Patchy alopecia, Lymphedema	ORPHA:2874
Parkes Weber Syndrome	Scaling skin, Skin ulcer	ORPHA:90307
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia, Cataract	OMIM:610651
Steinfeld Syndrome	Microphthalmia, Iris coloboma, Retinal coloboma, Aplasia of the nose	OMIM:184705
Microphthalmia, Syndromic 9	Blepharophimosis, Bilateral microphthalmos, Anophthalmia, Wide nasal bridge	OMIM:601186
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Hip osteoarthritis, Opacification of the corneal stroma	OMIM:313400
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Anophthalmia, Iris coloboma, Cataract	ORPHA:2250
Microgastria-Limb Reduction Defect Syndrome	Multicystic kidney dysplasia, Anophthalmia, Esophagitis, Microphthalmia, Failure to thrive	ORPHA:2538
Mucopolysaccharidosis Type 2, Severe Form	Arthritis, Corneal opacity, Wide nasal bridge	ORPHA:217085
Mucopolysaccharidosis Type 2	Hip osteoarthritis, Corneal opacity, Wide nasal bridge	ORPHA:580
Mucopolysaccharidosis Type 2, Attenuated Form	Arthritis, Corneal opacity, Wide nasal bridge	ORPHA:217093
Mucopolysaccharidosis, Type Iva	Recurrent pneumonia, Opacification of the corneal stroma	OMIM:253000
Fanconi Anemia, Complementation Group R	Microphthalmia	OMIM:617244
8Q24.3 Microdeletion Syndrome	Epicanthus, Small for gestational age, Optic nerve hypoplasia, Highly arched eyebrow, Bilateral m...	ORPHA:508488
Limb Body Wall Complex	Iris coloboma, Lens subluxation, Corneal opacity, Wide nasal bridge	ORPHA:2369
Woodhouse-Sakati Syndrome	Sparse hair, Alopecia, Fine hair	OMIM:241080
Pseudoxanthoma Elasticum	Civatte bodies, Cutis laxa	OMIM:264800
Microphthalmia, Syndromic 6	Anophthalmia, Sclerocornea, Orbital cyst, Microcornea, Coloboma, Microphthalmia, Failure to thrive	OMIM:607932
Kenny-Caffey Syndrome, Type 2	Microphthalmia, Small for gestational age, Developmental cataract	OMIM:127000
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia, Iris coloboma, Cyclopia, Aplasia of the nose	ORPHA:3186
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Iris atrophy, Telecanthus, Epicanthus, Multicystic kidney dysplasia, Cataract, Highly arched eyeb...	ORPHA:261552
Holoprosencephaly-Postaxial Polydactyly Syndrome	Microphthalmia, Cyclopia, Polyhydramnios	ORPHA:2166
Charge Syndrome	Anophthalmia, Cataract, Polyhydramnios, Unilateral microphthalmos, Coloboma, Retinal coloboma, We...	OMIM:214800
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia, Low posterior hairline	OMIM:617925
Osteoporosis-Pseudoglioma Syndrome	Iris atrophy, Cataract, Phthisis bulbi, Absent anterior chamber of the eye, Microphthalmia	OMIM:259770
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Telecanthus, Multicystic kidney dysplasia, Cataract, Wide nasal bridge, Astigmatism, Retinal colo...	ORPHA:261537
Townes-Brocks Syndrome	Cataract, Blepharophimosis, Multiple renal cysts, Chorioretinal coloboma, Limbal dermoid, Microph...	ORPHA:857
Mowat-Wilson Syndrome	Telecanthus, Multicystic kidney dysplasia, Cataract, Enterocolitis, Wide nasal bridge, Astigmatis...	ORPHA:2152
Lowe Oculocerebrorenal Syndrome	Corneal scarring, Developmental cataract, Microphthalmia, Failure to thrive, Dense posterior cort...	OMIM:309000
Split Cord Malformation	Tufted hairs, Penetrating foot ulcers, Hydromyelia, Hypertrichosis	ORPHA:573278
Pallister-Hall Syndrome	Large for gestational age, Oligohydramnios, Nail dysplasia, Microphthalmia, Short nose, Downslant...	ORPHA:672
Dermochondrocorneal Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract	OMIM:221800
Microphthalmia, Syndromic 1	Anophthalmia, Optic disc coloboma, Microcornea, Ciliary body coloboma, Chorioretinal coloboma, We...	OMIM:309800
Holoprosencephaly 9	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	OMIM:610829
Adenocarcinoma Of The Anal Canal	Skin ulcer	ORPHA:424016
Gaucher Disease, Type Iiic	Opacification of the corneal stroma	OMIM:231005
Tetraamelia Syndrome 1	Microphthalmia, Cataract	OMIM:273395
Holoprosencephaly 2	Remnants of the hyaloid vascular system, Chorioretinal coloboma, Microphthalmia, Cyclopia, Iris c...	OMIM:157170
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Anophthalmia, Blepharophimosis, Upper eyelid coloboma, Limbal dermo...	OMIM:164210
Holoprosencephaly 1	Microphthalmia, Cyclopia, Aplasia of the nose	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	Multicystic kidney dysplasia, Hydromyelia, Opacification of the corneal stroma	OMIM:615287
Hydrolethalus Syndrome 1	Microphthalmia, Polyhydramnios	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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