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Gene: Cdsn MGI:3505689

Gene Summary

Name:

corneodesmosin

Synonyms:

N/A

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	Allele	Zyg	Life Stage	P Value
increased total retina thickness	Cdsn^{tm1b(EUCOMM)Hmgu}	HET	Early adult	2.42×10^-06
preweaning lethality, complete penetrance	Cdsn^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.79×10^-05
increased mean corpuscular hemoglobin concentration	Cdsn^{tm1b(EUCOMM)Hmgu}	HET	Early adult	3.22×10^-05
increased mean corpuscular hemoglobin	Cdsn^{tm1b(EUCOMM)Hmgu}	HET	Early adult	6.56×10^-05

Download data as: TSV XLS

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Viewing: all phenotypes

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.

Electrocardiogram (ECG)

Waveform Image

28 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Cdsn 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 Cdsn (3 diseases)
Human diseases predicted to be associated with Cdsn (610 diseases)

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

Disease	Matching phenotypes	Source
Hypotrichosis Simplex Of The Scalp	Abnormal eyebrow morphology, Parakeratosis, Sparse scalp hair, Absent facial hair, Allergic rhini...	ORPHA:90368
Hypotrichosis 2	Sparse scalp hair	OMIM:146520
Peeling Skin Syndrome 1	Brittle hair, Pruritus, Onycholysis, Nail dystrophy, Erythroderma	OMIM:270300

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

Disease	Matching phenotypes	Source
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Graham Little-Piccardi-Lassueur Syndrome	Sparse scalp hair, Alopecia, Sparse axillary hair, Sparse pubic hair, Perifollicular hyperkeratos...	ORPHA:505
Erythrokeratodermia Variabilis Et Progressiva 5	Abnormal hair morphology, Hyperkeratosis, Onychogryposis, Palmoplantar hyperkeratosis	OMIM:617756
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Hemoglobin E-Beta-Thalassemia Syndrome	Abnormal hemoglobin, Anemia	ORPHA:231249
Hypotrichosis Simplex Of The Scalp	Abnormal eyebrow morphology, Parakeratosis, Sparse scalp hair, Absent facial hair, Allergic rhini...	ORPHA:90368
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma	Parakeratosis, Hyperconvex nail, Linear arrays of macular hyperkeratoses in flexural areas, Honey...	OMIM:601952
Keratosis, Focal Palmoplantar And Gingival	Circumungual hyperkeratosis, Subungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re...	OMIM:148730
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Parakeratosis, Alopecia totalis, Posterior blepharitis, Palmoplantar hy...	OMIM:300918
Insulin-Resistance Syndrome Type A	Hyperkeratosis, Generalized hirsutism	ORPHA:2297
Olmsted Syndrome 2	Parakeratosis, Pruritus, Perioral hyperkeratosis, Cheilitis, Palmoplantar hyperkeratosis, Hyperke...	OMIM:619208
Palmoplantar Keratoderma, Norrbotten Recessive Type	Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections	OMIM:244850
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Ichthyosis, Congenital, Autosomal Recessive 1	Parakeratosis, Alopecia, Erythroderma, Palmoplantar hyperkeratosis, Congenital ichthyosiform eryt...	OMIM:242300
Keratoderma Hereditarium Mutilans With Ichthyosis	Parakeratosis, Alopecia, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Palmoplantar hyp...	ORPHA:79395
Acrokeratosis Verruciformis	Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Ridged nail, Acrokeratosis	OMIM:101900
Ichthyosis Hystrix Of Curth-Macklin	Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Nail dystrophy, I...	ORPHA:79503
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Palmoplantar kera...	ORPHA:2722
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Anonychia With Flexural Pigmentation	Abnormal hair morphology, Hyperkeratosis, Alopecia of scalp, Follicular hyperkeratosis, Anonychia	ORPHA:69125
Ichthyosis, Congenital, Autosomal Recessive 13	Ichthyosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis	OMIM:617574
Ichthyosis, Lamellar, Autosomal Dominant	Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:146750
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1	Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ...	OMIM:613000
Olmsted Syndrome 1	Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos...	OMIM:614594
Erythrokeratodermia Variabilis Et Progressiva 6	Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate	OMIM:618531
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Porokeratosis Plantaris Palmaris Et Disseminata	Hyperkeratotic papule, Porokeratosis, Palmoplantar hyperkeratosis, Pruritus	ORPHA:737
Porokeratosis 3, Multiple Types	Parakeratosis, Porokeratosis, Nail dystrophy	OMIM:175900
Diamond-Blackfan Anemia 19	Erythroid hypoplasia, Steroid-responsive anemia, Anemia	OMIM:618312
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Alopecia, Plantar hyperkeratosis, Nail dystrophy, Pruritus	OMIM:616487
Epidermolysis Bullosa Simplex 1C, Localized	Hyperkeratosis	OMIM:131800
Porokeratosis Of Mibelli	Pruritus, Hyperkeratosis, Porokeratosis	ORPHA:735
Retinal Dysplasia, Primary	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Parakeratosis, Pruritus, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, I...	OMIM:615821
Congenital Panfollicular Nevus	Pruritus, Hyperkeratosis	ORPHA:139414
Bathing Suit Ichthyosis	Parakeratosis, Alopecia, Thickened skin, Erythroderma, Palmoplantar hyperkeratosis, Nail dystroph...	ORPHA:100976
Hidrotic Ectodermal Dysplasia	Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p...	ORPHA:189
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Hemoglobin H Disease	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Parana Hard Skin Syndrome	Hyperkeratosis, Thickened skin, Generalized hirsutism	ORPHA:2812
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Diffuse palmoplantar hyperkeratosis, Onychogryposis of toenails, Alopecia of scalp, Spa...	OMIM:617294
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis	ORPHA:86923
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Palmoplantar Keratoderma, Punctate Type Iii	Hyperkeratosis, Acrokeratosis	OMIM:101850
Psoriasis 2	Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis	OMIM:602723
Dermatoleukodystrophy	Hyperkeratosis, Thickened skin	ORPHA:1659
Ichthyosis, Annular Epidermolytic, 1	Abnormal hair morphology, Hyperparakeratosis, Palmoplantar hyperkeratosis, Ichthyosis, Congenital...	OMIM:607602
Vohwinkel Syndrome, Variant Form	Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat...	OMIM:604117
Epidermolysis Bullosa Dystrophica, Pretibial	Pruritus, Hyperkeratosis, Nail dystrophy	OMIM:131850
Bazex Syndrome	Parakeratosis, Yellow nails, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, ...	ORPHA:166113
Angioma Serpiginosum, X-Linked	Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair	OMIM:300652
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Infantile Digital Fibromatosis	Hyperkeratosis, Parakeratosis	ORPHA:199267
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis	OMIM:173200
Acrokeratosis Verruciformis Of Hopf	Parakeratosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Leukonychia, ...	ORPHA:79151
Ichthyosis Hystrix, Lambert Type	Hyperkeratosis, Orthokeratotic hyperkeratosis	OMIM:146600
Palmoplantar Keratoderma-Deafness Syndrome	Hyperkeratosis, Palmoplantar keratoderma	ORPHA:2202
Palmoplantar Keratoderma, Nagashima Type	Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis	OMIM:615598
Reticulate Acropigmentation Of Kitamura	Hyperkeratosis	OMIM:615537
Porokeratosis 7, Multiple Types	Parakeratosis, Porokeratosis	OMIM:614714
Porokeratosis 1, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175800
Ulerythema Ophryogenesis	Acne, Miscarriage, Follicular hyperkeratosis, Hyperkeratotic papule, Contact dermatitis, Sparse l...	ORPHA:3406
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Psoriasiform dermatitis, Recurrent skin infections, Hypergranulosis, Acantholysis, Eosinophilic i...	OMIM:615508
Ichthyosis, Hystrix-Like, With Deafness	Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow...	OMIM:602540
Dowling-Degos Disease 2	Hyperkeratotic papule, Follicular hyperkeratosis	OMIM:615327
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Ridged nail, Abnormal fingernail morphology, Pruritus, Palmoplantar hyperkeratosis, Hyperkeratosi...	ORPHA:89838
Psoriasis 14, Pustular	Parakeratosis, Psoriasiform dermatitis, Cholangitis, Pustule, Oligoarthritis, Nail dystrophy	OMIM:614204
Palmoplantar Keratoderma And Congenital Alopecia 2	Alopecia totalis, Palmoplantar hyperkeratosis, Hyperkeratosis, Nail dystrophy, Nail dysplasia, Sc...	OMIM:212360
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	OMIM:144150
Netherton Syndrome	Sparse scalp hair, Parakeratosis, Brittle hair, Recurrent skin infections, Brittle scalp hair, Ec...	OMIM:256500
Angioma Serpiginosum, Autosomal Dominant	Hyperkeratosis	OMIM:106050
Papillomatosis, Confluent And Reticulated	Hyperkeratosis	OMIM:167900
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Hyperkeratosis	OMIM:615028
Trichothiodystrophy 7, Nonphotosensitive	Brittle hair, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkerat...	OMIM:618546
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Vulvovaginal Gingival Syndrome	Ridged nail, Parakeratosis, Pruritus	ORPHA:83453
Hyperkeratosis-Hyperpigmentation Syndrome	Hyperkeratosis	ORPHA:1336
Monilethrix	Alopecia, Brittle hair, Abnormality of hair texture, Perifollicular hyperkeratosis, Nail dystroph...	OMIM:158000
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
Peeling Skin Syndrome 6	Orthokeratosis, Parakeratosis, Atopic dermatitis, Pruritus	OMIM:618084
Ichthyosis, Congenital, Autosomal Recessive 6	Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Generalized ichthyosis, Congenital nonbu...	OMIM:612281
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Pruritus, Parakeratosis, Nail dystrophy, Palmoplantar hyperkeratosis	ORPHA:158681
Pruritic Urticarial Papules And Plaques Of Pregnancy	Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Pruritis on hand, Pruritis on bre...	ORPHA:64745
Erythrokeratoderma ''En Cocardes''	Hyperkeratosis	ORPHA:315
Ichthyosis, Congenital, Autosomal Recessive 5	Parakeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Erythr...	OMIM:604777
Moynahan Syndrome	Sparse hair, Hyperkeratosis, Alopecia	ORPHA:2574
Verrucous Hemangioma	Inflammatory abnormality of the skin, Hyperkeratotic papule	ORPHA:464318
Hypotrichosis 6	Brittle hair, Sparse eyelashes, Sparse eyebrow, Pruritus, Follicular hyperkeratosis, Sparse hair,...	OMIM:607903
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Hyperkeratosis, Parakeratosis	OMIM:618339
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Plantar hyperkeratosis, Brittle hair, Epidermal hyperkeratosis, Sparse eyebrow, Leukony...	OMIM:104100
White Sponge Nevus 2	Hyperparakeratosis	OMIM:615785
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia	ORPHA:46532
Rothmund-Thomson Syndrome, Type 1	Absent eyebrow, Thin nail, Absent eyelashes, Hyperkeratosis, Recurrent otitis media, Nail dystrop...	OMIM:618625
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Plantar hyperkeratosis, Pruritus, Hyperkeratosis, Nail dystrophy, Palmar hyperkeratosis	ORPHA:79399
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h...	ORPHA:573
Kerion Celsi	Inflammatory abnormality of the skin, Recurrent cutaneous abscess formation, Alopecia, Recurrent ...	ORPHA:499
Tylosis With Esophageal Cancer	Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis	OMIM:148500
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Perifolliculitis, Alopecia, Alopecia of scalp	OMIM:260910
Familial Reactive Perforating Collagenosis	Perifolliculitis, Inflammatory abnormality of the skin, Abnormal fingernail morphology, Maculopap...	ORPHA:79147
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Alopecia, Parakeratosis, Sparse eyelashes, Thick hair, Sparse eyebrow, Pruritus, Sclerosing chola...	OMIM:607626
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Alopecia, Plantar hyperkeratosis, Nail dystrophy, Nail dysplasia, Palmar hyperkeratosis, Hyperker...	ORPHA:79397
Aquagenic Palmoplantar Keratoderma	Orthokeratotic hyperkeratosis, Palmar pruritus, Palmoplantar keratoderma, Atopic dermatitis	ORPHA:498359
Hypotrichosis Simplex	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair	ORPHA:55654
Alopecia Areata 2	Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis	OMIM:610753
Lipoid Proteinosis Of Urbach And Wiethe	Hyperkeratosis, Thickened skin, Patchy alopecia	OMIM:247100
Palmoplantar Carcinoma, Multiple Self-Healing	Parakeratosis, Palmoplantar keratoderma, Nail dystrophy, Follicular hyperkeratosis, Chronic rhinitis	OMIM:615225
Alopecia Areata 1	Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis	OMIM:104000
Alopecia Universalis Congenita	Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis	OMIM:203655
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke...	OMIM:613736
Hypotrichosis 4	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair	OMIM:146550
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Schopf-Schulz-Passarge Syndrome	Ridged nail, Narrow nail, Thin nail, Poroma, Hyperkeratosis, Palmoplantar keratoderma, Onycholysi...	OMIM:224750
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Eczema, Absent eyelashes, Generalized keratosis follicula...	ORPHA:2890
Erythrokeratodermia Variabilis Et Progressiva 4	Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:617526
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl...	ORPHA:284426
Epidermolytic Palmoplantar Keratoderma	Abnormal fingernail morphology, Hypergranulosis, Epidermal hyperkeratosis, Diffuse palmoplantar h...	ORPHA:2199
Keratoderma Hereditarium Mutilans	Alopecia, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Ichthyosis, Abnormal toenail mor...	ORPHA:494
Focal Palmoplantar And Gingival Keratoderma	Subungual hyperkeratosis, Abnormal fingernail morphology, Focal friction-related palmoplantar hyp...	ORPHA:2200
Pemphigus Foliaceus	Psoriasiform dermatitis, Acantholysis, Pruritus, Pustule, Crusting erythematous dermatitis, Eryth...	ORPHA:79481
Ichthyosis, Congenital, Autosomal Recessive 14	Pruritus, Hyperkeratosis, Orthokeratotic hyperkeratosis, Congenital nonbullous ichthyosiform eryt...	OMIM:617571
Kid Syndrome	Angular cheilitis, Scarring alopecia of scalp, Posterior blepharitis, Recurrent cutaneous fungal ...	ORPHA:477
X-Linked Intellectual Disability-Seizures-Psoriasis Syndrome	Psoriasiform dermatitis, Ichthyosis	ORPHA:3052
Ichthyosis, Congenital, Autosomal Recessive 11	Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Pruritus, Hyperkerat...	OMIM:602400
Hypotrichosis 11	Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo...	OMIM:615059
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Erythrokeratodermia Variabilis	Alopecia, Skin rash, Abnormal hair morphology, Patchy palmoplantar hyperkeratosis, Generalized hi...	ORPHA:317
Psoriasis 1, Susceptibility To	Psoriasiform dermatitis, Nail pits, Arthritis, Onycholysis, Onychomadesis	OMIM:177900
Alopecia Universalis	Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis	ORPHA:701
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Hypergranulosis, Yellow nails, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmop...	OMIM:148700
Candidiasis, Familial, 1	Alopecia, Chronic mucocutaneous candidiasis	OMIM:114580
Acquired Ichthyosis	Recurrent skin infections, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis	ORPHA:454
Flynn-Aird Syndrome	Hyperkeratosis, Alopecia, Alopecia of scalp	OMIM:136300
Classic Mycosis Fungoides	Alopecia, Skin rash, Eczema, Pruritus, Hyperkeratosis, Abnormality of the nail	ORPHA:2584
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Alopecia, Palmoplantar keratoderma, Fingernail dysplasia, Sparse hair, Onychogryposis of fingerna...	ORPHA:2251
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
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	Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e...	ORPHA:1809
Ectodermal Dysplasia 6, Hair/Nail Type	Sparse hair, Alopecia, Thin toenail, Dystrophic toenail	OMIM:614928
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Idiopathic Trachyonychia	Ridged nail, Thin nail, Concave nail, Atopic dermatitis, Nail pits, Patchy alopecia, Nail dystrop...	ORPHA:79153
Clouston Syndrome	Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Pa...	OMIM:129500
Intellectual Developmental Disorder, Fra12A Type	Hyperkeratosis, Erythroderma	OMIM:136630
Congenital Ichthyosiform Erythroderma	Alopecia, Keratitis, Pruritus, Erythroderma, Palmoplantar keratoderma, Ichthyosis, Abnormality of...	ORPHA:79394
Hypotrichosis With Juvenile Macular Degeneration	Sparse scalp hair, Brittle hair, Fine hair, Hyperkeratosis, Pili torti	ORPHA:1573
Dystrophic Epidermolysis Bullosa Pruriginosa	Pruritus, Hyperkeratosis, Abnormal toenail morphology, Nail dystrophy	ORPHA:89843
Ectodermal Dysplasia-Syndactyly Syndrome 2	Sparse hair, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ichthyosifor...	OMIM:613576
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Eczema, Pruritus, Thickened skin, Pustule, Erythroderma, Palmoplantar k...	ORPHA:2897
Lichen Planopilaris	Alopecia, Abnormal fingernail morphology, Pruritus, Hepatitis, Hyperkeratosis, Onycholysis	ORPHA:525
Bleeding Disorder, Platelet-Type, 21	Alopecia, Psoriasiform dermatitis, Eczema	OMIM:617443
Autosomal Dominant Epidermolytic Ichthyosis	Erythroderma, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmoplantar keratod...	ORPHA:312
Chilblain Lupus	Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Hyperkeratosis, Pruritis on ...	ORPHA:90280
Erythrokeratodermia Variabilis Et Progressiva 1	Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis, Erythroderma	OMIM:133200
Hypotrichosis And Recurrent Skin Vesicles	Sparse scalp hair, Sparse eyelashes, Angular cheilitis, Sparse axillary hair, Sparse eyebrow, Leu...	OMIM:613102
Ichthyosis Prematurity Syndrome	Allergic rhinitis, Pruritus, Generalized ichthyosis, Follicular hyperkeratosis, Erythroderma, Alo...	OMIM:608649
Alopecia Totalis	Alopecia, Alopecia of scalp	ORPHA:700
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Keratitis, Folliculitis, ...	OMIM:612843
Alopecia-Intellectual Disability Syndrome 1	Alopecia, Alopecia universalis	OMIM:203650
Peeling Skin Syndrome 4	Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Ichthyosis, Orthokeratosis	OMIM:607936
Neonatal Lupus Erythematosus	Parakeratosis, Skin rash, Maculopapular exanthema, Hyperkeratosis, Malar rash	ORPHA:398124
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Subungual hyperkeratosis, Eczema, Scarring alopecia of scalp, Hypoplastic sweat glands, Nail dyst...	OMIM:617337
Erythrokeratodermia Variabilis Et Progressiva 3	Hypergranulosis, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis	OMIM:617525
Epidermolysis Bullosa, Lethal Acantholytic	Alopecia totalis, Acantholysis, Absent fingernail, Neonatal death, Anonychia, Alopecia universalis	OMIM:609638
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Psoriasis 15, Pustular, Susceptibility To	Psoriasiform dermatitis, Nail dystrophy	OMIM:616106
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Acanthosis nigricans, Hyperkeratosis, Parakeratosis, Ichthyosis	OMIM:618527
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Psoriasiform dermatitis, Blepharitis, Ichthyosis	OMIM:616834
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Keratitis, Folliculitis, Palmoplant...	OMIM:308800
Parc Syndrome	Absent eyelashes, Absent eyebrow, Alopecia	OMIM:600331
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Sparse scalp hair, Abnormal eyelash morphology, Periodontitis, Sparse body hair, Alopecia univers...	ORPHA:1008
Ichthyosis, Congenital, Autosomal Recessive 2	Alopecia, Thin nail, Hypergranulosis, Abnormal hair morphology, Hyperkeratosis, Congenital ichthy...	OMIM:242100
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Bullous Dystrophy, Hereditary Macular Type	Alopecia totalis, Abnormality of the nail, Death in childhood	OMIM:302000
Schöpf-Schulz-Passarge Syndrome	Sparse hair, Alopecia, Palmoplantar keratoderma, Aplasia/Hypoplasia of the eyebrow	ORPHA:50944
Immunodeficiency, Common Variable, 10	Trachyonychia, Psoriasiform dermatitis, Alopecia totalis, Recurrent pneumonia, Recurrent sinusiti...	OMIM:615577
Darier Disease	Acrokeratosis, Abnormal hair morphology, Thickened skin, Pruritus, Palmoplantar keratoderma, Abno...	ORPHA:218
Epidermolysis Bullosa, Junctional 1A, Intermediate	Plantar hyperkeratosis, Patchy alopecia, Nail dystrophy, Fragile nails	OMIM:226650
Lamellar Ichthyosis	Pruritus, Chronic otitis media, Erythroderma, Hyperkeratosis, Ichthyosis, Sparse hair, Abnormalit...	ORPHA:313
Pachyonychia Congenita	Alopecia, Angular cheilitis, Paronychia, Onychogryposis of toenails, Linear arrays of macular hyp...	ORPHA:2309
Quinquaud Folliculitis Decalvans	Recurrent skin infections, Abnormal hair morphology, Scarring alopecia of scalp, Pustule, Patchy ...	ORPHA:346
Neuropathy, Hereditary Sensory, Type If	Hyperkeratosis, Osteomyelitis	OMIM:615632
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	Ridged nail, Nail pits, Congenital alopecia totalis	ORPHA:169095
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Death in early adulthood, Alopecia, Sparse eyelashes, Acantholysis, Sparse eyebrow, Palmoplantar ...	OMIM:605676
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia	ORPHA:846
Lichen Planus Pemphigoides	Pruritus, Hyperkeratosis, Conjunctivitis, Blepharitis, Abnormality of the nail	ORPHA:254478
Ectodermal Dysplasia 4, Hair/Nail Type	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod...	OMIM:602032
Pachyonychia Congenita 1	Nail dystrophy, Follicular hyperkeratosis, Palmoplantar hyperkeratosis, Onychogryposis	OMIM:167200
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Follicular hyperkeratosis	OMIM:277350
Atrophoderma Vermiculata	Pruritus, Hyperkeratotic papule, Follicular hyperkeratosis	ORPHA:79100
L-Ferritin Deficiency	Alopecia	OMIM:615604
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Sparse hair, Hyperkeratosis, Coarse hair, Brittle hair	ORPHA:1883
Alopecia, Familial Focal	Patchy alopecia	OMIM:104110
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Alopecia-Intellectual Disability Syndrome 3	Alopecia universalis	OMIM:613930
Alopecia-Intellectual Disability Syndrome 2	Alopecia universalis	OMIM:610422
Trichodysplasia-Xeroderma Syndrome	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod...	ORPHA:3361
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Alopecia totalis	ORPHA:1014
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Angular cheilitis, Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Cheilitis, Leuko...	OMIM:616295
Chromomycosis	Pruritus, Keratitis, Hyperparakeratosis, Hyperkeratosis, Keratoconjunctivitis sicca, Hyperkeratot...	ORPHA:182
Lipoid Proteinosis	Acne, Pustule, Thickened skin, Hyperkeratosis, Alopecia of scalp	ORPHA:530
Mycosis Fungoides	Pruritus, Psoriasiform dermatitis, Eczema	OMIM:254400
Porphyria Cutanea Tarda	Facial hypertrichosis, Scleroderma, Alopecia, Onycholysis	OMIM:176100
Peeling Skin Syndrome 5	Hyperkeratosis	OMIM:617115
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Psoriasiform dermatitis, Eczema, Erythroderma, Thyroiditis, Patchy alopecia, Chronic oral candidi...	OMIM:606367
Superficial Epidermolytic Ichthyosis	Ichthyosis, Palmoplantar keratoderma, Thin skin, Acantholysis	ORPHA:455
Ichthyosis, Congenital, Autosomal Recessive 8	Orthokeratosis, Hyperkeratosis, Hypergranulosis, Ichthyosis	OMIM:613943
Lymphatic Malformation 4	Hyperkeratosis, Toenail dysplasia	OMIM:615907
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Pruritus, Arthritis, Inflammation of the...	ORPHA:324964
Ichthyosis, Congenital, Autosomal Recessive 9	Hypergranulosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Erythroderma, ...	OMIM:615023
Hereditary Mucoepithelial Dysplasia	Sparse hair, Hyperkeratosis, Alopecia, Fine hair	ORPHA:1839
Thumb Deformity And Alopecia	Alopecia	OMIM:188150
Congenital Disorder Of Glycosylation, Type Im	Death in infancy, Alopecia, Inflammatory abnormality of the skin, Sparse eyelashes, Sparse eyebro...	OMIM:610768
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Congenital alopecia totalis, Sparse eyebrow, Absent pubic hair, Generalized ichthyosis, Absent ax...	ORPHA:2269
Cole Disease	Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ...	OMIM:615522
Ramon Syndrome	Hyperkeratosis, Generalized hirsutism	ORPHA:3019
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Alopecia, Myositis, Psoriasiform dermatitis, Eczema, Pneumonia, Osteomyelitis, Recurrent skin inf...	ORPHA:37042
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Darier-White Disease	Ridged nail, Acrokeratosis, Acantholysis, Pruritus, Subungual hyperkeratotic fragments	OMIM:124200
Recessive X-Linked Ichthyosis	Hyperkeratosis, Ichthyosis	ORPHA:461
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Parakeratosis, Alopecia, Hyperkeratosis, Congenital ichthyosiform erythroderma, Stillbirth, Small...	OMIM:308050
Ichthyosis Hystrix, Curth-Macklin Type	Hyperkeratotic papule, Palmoplantar keratoderma	OMIM:146590
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome	Hyperkeratotic papule, Leukonychia, Palmoplantar keratoderma, Palmoplantar hyperkeratosis	ORPHA:2698
H Syndrome	Abnormal eyebrow morphology, Alopecia, Psoriasiform dermatitis, Bronchiectasis, Chronic rhinitis,...	ORPHA:168569
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Nail dystrophy, Palmoplantar keratoderma, Alopecia totalis	ORPHA:1366
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Comedonal acne, Follicular hyperkeratosis	OMIM:615147
Pseudopelade Of Brocq	Sparse scalp hair, Alopecia, Recurrent skin infections, Abnormal hair morphology, Cheilitis, Abno...	ORPHA:129
Seborrhea-Like Dermatitis With Psoriasiform Elements	Hyperkeratosis, Seborrheic dermatitis	OMIM:610227
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Bronchiectasis, Atopic dermatitis...	ORPHA:436159
Hyperkeratosis Lenticularis Perstans	Pruritus, Hyperkeratosis lenticularis perstans	ORPHA:409
Elastosis Perforans Serpiginosa	Hyperkeratotic papule, Crusting erythematous dermatitis	ORPHA:79148
Mental Retardation And Psoriasis	Psoriasiform dermatitis	OMIM:309480
Palmoplantar Keratoderma, Punctate Type Ia	Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis	OMIM:148600
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Viral hepatitis, Psoriasiform dermatitis, Skin rash, Cholangitis, Pneumonia, A...	ORPHA:183675
Cardiofaciocutaneous Syndrome 3	Hyperkeratosis, Curly hair, Webbed neck	OMIM:615279
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Ridged nail, Alopecia, Nail dystrophy, Nail pits	OMIM:601705
Transgrediens Et Progrediens Palmoplantar Keratoderma	Recurrent bacterial skin infections, Plantar hyperkeratosis, Hyperconvex nail, Angular cheilitis,...	ORPHA:495
Bullous Pemphigoid	Psoriasiform dermatitis, Eczema	ORPHA:703
Ectodermal Dysplasia/Short Stature Syndrome	Hyperkeratosis, Anonychia, Palmoplantar keratoderma, Nail dystrophy	OMIM:616029
Leopard Syndrome 3	Curly hair, Epidermal hyperkeratosis, Low posterior hairline, Hyperkeratosis, Webbed neck	OMIM:613707
Alopecia-Intellectual Disability Syndrome 4	Alopecia, Erythroderma, Ichthyosis	OMIM:618840
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Eczema, Pruritus, Palmoplantar keratoderm...	OMIM:618535
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Sinusitis, Slow-growing hair, Eczema, Hyperkeratosis, Aplasia/Hypoplasia ...	ORPHA:238468
Congenital Disorder Of Glycosylation, Type Iq	Hyperkeratosis, Eczema, Hypertrichosis, Ichthyosis	OMIM:612379
Amelo-Onycho-Hypohidrotic Syndrome	Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Hyperkeratosis, Onycholysis	ORPHA:1028
Alopecia-Intellectual Disability Syndrome	Sparse scalp hair, Alopecia, Ichthyosis, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:2850
Cortisone Reductase Deficiency 1	Alopecia, Acne, Hirsutism	OMIM:604931
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Psoriasiform dermatitis, Eczema, Bronchiectasis, Arthritis, Crohn's disease	OMIM:616100
Combined Immunodeficiency-Enteropathy Spectrum	Absent eyebrow, Psoriasiform dermatitis, Thickened skin, Hepatitis, Nail dystrophy, Sparse hair, ...	ORPHA:436252
Immunodeficiency 49	Psoriasiform dermatitis, Hirsutism	OMIM:617237
Neonatal Inflammatory Skin And Bowel Disease	Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Horizontal ey...	ORPHA:294023
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Alopecia, Erythroderma, Palmoplantar keratoderma, Conjunctivitis, Ichthyosis, Sparse hair, Fragil...	OMIM:242150
Ichthyosis, Annular Epidermolytic, 2	Orthokeratosis, Palmoplantar keratoderma, Palmoplantar hyperkeratosis, Ichthyosis	OMIM:620148
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Recurrent bacterial skin infections, Sparse eyelashes, Trichiasis, Sparse eyebrow, Keratitis, Abs...	OMIM:148210
Sjögren-Larsson Syndrome	Hyperkeratosis, Inflammatory abnormality of the eye, Ichthyosis	ORPHA:816
Acrokeratoelastoidosis Of Costa	Orthokeratosis, Hyperkeratotic papule, Hypergranulosis, Palmoplantar hyperkeratosis	ORPHA:38
Trichothiodystrophy 1, Photosensitive	Death in infancy, Brittle hair, Trichoschisis, Erythroderma, Fine hair, Hyperkeratosis, Fragile n...	OMIM:601675
Pili Torti	Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ...	ORPHA:2889
Sézary Syndrome	Alopecia, Pruritus, Palmoplantar keratoderma, Nail dystrophy, Erythroderma	ORPHA:3162
Dowling-Degos Disease	Abnormal fingernail morphology, Pruritus, Hyperkeratosis, Arthritis, Hyperkeratotic papule, Acne ...	ORPHA:79145
Oliver-Mcfarlane Syndrome	Sparse hair, Alopecia, Long eyelashes, Long eyebrows	OMIM:275400
Pemphigus Vulgaris	Recurrent cutaneous abscess formation, Acantholysis	ORPHA:704
Pachyonychia Congenita 2	Subungual hyperkeratosis, Dry hair, Sparse scalp hair, Angular cheilitis, Sparse eyebrow, Palmopl...	OMIM:167210
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Alopecia, Psoriasiform dermatitis, Alopecia totalis, Recurrent pneumonia, Bronchiectasis, Thyroid...	ORPHA:293978
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation	Alopecia, Ichthyosis	OMIM:242510
Lig4 Syndrome	Psoriasiform dermatitis, Low anterior hairline, Chronic sinusitis	OMIM:606593
Naxos Disease	Subungual hyperkeratosis, Curly hair, Acantholysis, Sparse eyebrow, Diffuse palmoplantar hyperker...	OMIM:601214
Crandall Syndrome	Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:202
Prolidase Deficiency	Abnormal fingernail morphology, Pruritus, Crusting erythematous dermatitis, Low anterior hairline...	ORPHA:742
Harlequin Ichthyosis	Hyperkeratosis, Congenital ichthyosiform erythroderma, Erythroderma, Ichthyosis	ORPHA:457
Mednik Syndrome	Hyperkeratosis, Ichthyosis	ORPHA:171851
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Alopecia, Osteomyelitis, Recurrent skin infections, Eczema, Pruritus, Recurrent pneumonia, Bronch...	OMIM:618282
Odontoonychodermal Dysplasia	Ridged nail, Sparse scalp hair, Plantar hyperkeratosis, Dry hair, Thin nail, Hypergranulosis, Sho...	OMIM:257980
Sapho Syndrome	Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Recurrent skin infections, Pustule, Syno...	ORPHA:793
Pseudoprogeria Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Thin skin, Sparse hair	ORPHA:2985
Psoriasis-Related Juvenile Idiopathic Arthritis	Anterior uveitis, Psoriasiform dermatitis, Skin rash, Pruritus, Iridocyclitis, Oligoarthritis, Uv...	ORPHA:85436
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fingernail dys...	ORPHA:2325
Ichthyosis, Congenital, Autosomal Recessive 3	Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Ichth...	OMIM:606545
Immunodeficiency, Common Variable, 14	Psoriasiform dermatitis, Recurrent sinusitis	OMIM:617765
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m...	ORPHA:248
Pachyonychia Congenita 3	Chapped lip, Plantar hyperkeratosis, Onychogryposis of toenails, Palmoplantar keratoderma, Nail d...	OMIM:615726
Lymphatic Malformation 12	Neonatal death, Hyperkeratosis, Death in adolescence	OMIM:620014
Marie Unna Hereditary Hypotrichosis	Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e...	ORPHA:444
Familial Benign Chronic Pemphigus	Hyperkeratosis, Acantholysis	ORPHA:2841
Noonan Syndrome 8	Hyperkeratosis, Curly hair, Eczema, Webbed neck	OMIM:615355
Proteus Syndrome	Hyperkeratosis	OMIM:176920
Linear Verrucous Nevus Syndrome	Hyperkeratosis, Sparse scalp hair	ORPHA:2611
Mucoepithelial Dysplasia, Hereditary	Alopecia, Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis...	OMIM:158310
Poikiloderma With Neutropenia	Plantar hyperkeratosis, Skin rash, Sparse eyebrow, Recurrent pneumonia, Low posterior hairline, H...	OMIM:604173
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Psoriasiform dermatitis, Low posterior hairline, Arthritis, Chronic oral candidiasis, Recurrent a...	ORPHA:221139
Iga Pemphigus	Neutrophilic infiltration of the skin, Acantholysis, Pruritus, Pustule, Ulcerative colitis, Cutan...	ORPHA:555905
Irida Syndrome	Hyperkeratosis, Ichthyosis	ORPHA:209981
Hypotrichosis 5	Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs...	OMIM:612841
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hyperkeratosis	OMIM:145250
Warty Dyskeratoma	Abnormal fingernail morphology, Acrokeratosis, Epidermal thickening, Acantholysis	ORPHA:69745
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe...	ORPHA:232
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Chronic Mucocutaneous Candidiasis	Abnormal fingernail morphology, Skin rash, Pruritus, Broad nail, Hepatitis, Cheilitis, Hyperkerat...	ORPHA:1334
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Death in infancy, Psoriasiform dermatitis, Enterocolitis, Interface hepatitis, Death in childhood	OMIM:243150
Ectodermal Dysplasia/Skin Fragility Syndrome	Absent eyebrow, Absent eyelashes, Palmoplantar hyperkeratosis, Nail dystrophy, Sparse hair, Alope...	OMIM:604536
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Follicular hyperkeratosis	ORPHA:300179
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Death in childhood, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis	OMIM:614457
Lethal Acantholytic Erosive Disorder	Absent eyebrow, Acantholysis, Absent eyelashes, Absent toenail, Absent fingernail, Congenital alo...	ORPHA:158687
Milroy Disease	Hyperkeratosis, Erysipelas, Toenail dysplasia	ORPHA:79452
Ectodermal Dysplasia-Blindness Syndrome	Abnormal fingernail morphology, Fine hair, Hyperkeratosis, Keratoconjunctivitis sicca, Sparse hair	ORPHA:1806
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Sparse hair, Alopecia, Long eyelashes	ORPHA:3363
Incontinentia Pigmenti	Ridged nail, Alopecia, Maculopapular exanthema, Supernumerary nipple, Keratitis, Nail pits, Fine ...	OMIM:308300
De Sanctis-Cacchione Syndrome	Keratitis, Parakeratosis, Conjunctivitis	OMIM:278800
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dysplasia, Erysipelas	OMIM:615704
Ectodermal Dysplasia 7, Hair/Nail Type	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa...	OMIM:614929
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Dystrophic fingernails, Dystrophic toenail	ORPHA:1882
Spondyloarthropathy, Susceptibility To, 1	Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ...	OMIM:106300
Subacute Cutaneous Lupus Erythematosus	Discoid lupus rash, Hyperkeratosis, Malar rash, Cheilitis	ORPHA:163525
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Recurrent pneumonia, Bronchiectasis, Hyperkeratosis, Colitis, Frontal upsweep of hair, Broad eyebrow	OMIM:301220
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Alopecia, Abnormal fingernail morphology, Thickened skin, Palmoplantar keratoderma, Sparse hair	ORPHA:659
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Membranoproliferative glomerulonep...	OMIM:137940
Limb-Mammary Syndrome	Alopecia, Absent nipple, Psoriasiform dermatitis, Chronic irritative conjunctivitis, Sparse eyebr...	ORPHA:69085
Oculocutaneous Albinism Type 1A	Hyperkeratosis, Thickened skin, Hypopigmentation of hair, Albinism	ORPHA:79431
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia of scalp, Alopecia, Palmoplantar keratoderma, Nail dystrophy	OMIM:618373
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborrheic dermat...	ORPHA:83617
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Alopecia, Hyperkeratosis, Ichthyosis, Sparse hair, Abnormal toenail morphology	ORPHA:1005
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia	OMIM:618849
Syndromic Recessive X-Linked Ichthyosis	Hyperkeratosis, Ichthyosis	ORPHA:281090
Immunodeficiency, Common Variable, 12, With Autoimmunity	Alopecia, Atrophic gastritis, Recurrent skin infections, Recurrent pneumonia, Bronchiectasis, Rec...	OMIM:616576
Nicolaides-Baraitser Syndrome	Alopecia, Eczema, Curly eyelashes, Abnormal hair pattern, Highly arched eyebrow, Long eyelashes, ...	ORPHA:3051
Systemic Lupus Erythematosus 17	Alopecia, Malar rash, Optic neuritis, Myelitis	OMIM:301080
Pemphigus Erythematosus	Malar rash, Acantholysis	ORPHA:79480
Hemihyperplasia-Multiple Lipomatosis Syndrome	Hyperparakeratosis, Seborrheic dermatitis	ORPHA:276280
Spinocerebellar Ataxia Type 42	Psoriasiform dermatitis	ORPHA:458803
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
Rhizomelic Chondrodysplasia Punctata	Alopecia, Sparse body hair, Ichthyosis	ORPHA:177
Congenital Disorder Of Glycosylation, Type If	Hyperkeratosis, Death in infancy, Erythroderma	OMIM:609180
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Alopecia, Highly arched eyebrow, Synophrys, Palmoplantar hyperkeratosis, Dystrophic toenail, Nail...	ORPHA:3253
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Tyrosinemia Type 2	Hyperkeratosis, Palmoplantar keratoderma, Abnormality of the nail	ORPHA:28378
Fibrodysplasia Ossificans Progressiva	Alopecia	ORPHA:337
Rapp-Hodgkin Syndrome	Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Fine hair, Progressive...	OMIM:129400
Rhizomelic Chondrodysplasia Punctata, Type 1	Alopecia, Ichthyosis	OMIM:215100
Costello Syndrome	Deep-set nails, Abnormal fingernail morphology, Concave nail, Hypoplastic toenails, Abnormal hair...	ORPHA:3071
Intermediate Uveitis	Anterior uveitis, Tubulointerstitial nephritis, Psoriasiform dermatitis, Optic neuritis	ORPHA:279914
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Spinocerebellar Ataxia 34	Erythroderma, Epidermal hyperkeratosis	OMIM:133190
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thrombocytopenia	ORPHA:848
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Omenn Syndrome	Alopecia, Pneumonia, Pruritus, Thickened skin, Thyroiditis, Erythroderma, Aplasia/Hypoplasia of t...	ORPHA:39041
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Recurrent skin infections, Pruritus, Recurrent pneumonia, Cheilitis, Palmoplantar ke...	ORPHA:158668
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Abnormal fingernail morphology, Pruritus, Gastrointestinal inflammation, Anonychia, Palmoplantar ...	ORPHA:79410
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hyperkeratosis	ORPHA:79279
Acute Generalized Exanthematous Pustulosis	Predominantly dermal neutrophilic infiltrate, Acantholysis, Pruritus, Pustule, Cheilitis, Eosinop...	ORPHA:293173
Chondrodysplasia Punctata, Autosomal Dominant	Sparse hair, Hyperkeratosis with erythema, Coarse hair	OMIM:118650
Hereditary Sensory And Autonomic Neuropathy Type 1	Hyperkeratosis, Osteomyelitis	ORPHA:36386
Bresek Syndrome	Neonatal death, Alopecia, Ichthyosis	ORPHA:85284
Reactive Arthritis	Pericarditis, Osteomyelitis, Pustule, Enthesitis, Hyperkeratosis, Inflammation of the large intes...	ORPHA:29207
Donohue Syndrome	Acanthosis nigricans, Hyperkeratosis, Nail dysplasia, Hypertrichosis	OMIM:246200
Björnstad Syndrome	Alopecia, Brittle hair	ORPHA:123
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Follicular hyperkeratosis	OMIM:617066
Igg4-Related Retroperitoneal Fibrosis	Deep dermal perivascular inflammatory infiltrate, Psoriasiform dermatitis, Membranous nephropathy...	ORPHA:49041
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair	ORPHA:1067
Cronkhite-Canada Syndrome	Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Dystrophic toenail, Patchy alopec...	ORPHA:2930
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteomyelitis, Skin rash, Pustule, Hyperkeratosis, Stomatitis	OMIM:612852
Bjornstad Syndrome	Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t...	OMIM:262000
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, T...	OMIM:607823
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Small nail, Sclerodactyly	OMIM:610644
Familial Keratoacanthoma	Hyperkeratosis	ORPHA:493
Zinc Deficiency, Transient Neonatal	Alopecia, Eczema	OMIM:608118
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hyperkeratosis, Death in infancy	ORPHA:163966
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Alopecia, Sinusitis, Osteomyelitis, Skin rash, Recurrent p...	ORPHA:47
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Alopecia	OMIM:203550
Incontinentia Pigmenti	Alopecia, Abnormal fingernail morphology, Skin rash, Supernumerary nipple, Abnormal hair morpholo...	ORPHA:464
Hypotrichosis 2	Sparse scalp hair	OMIM:146520
Pyropoikilocytosis, Hereditary	Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis	OMIM:266140
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Congenital abnormal hair pattern, Pneumonia, Nail dystrophy, Atrichia	ORPHA:1867
Acute Radiation Syndrome	Hyperkeratosis, Inflammatory abnormality of the skin, Interstitial pneumonitis	ORPHA:454831
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Follicular hyperkeratosis	ORPHA:486815
Chanarin-Dorfman Syndrome	Alopecia, Congenital nonbullous ichthyosiform erythroderma	OMIM:275630
Werner Syndrome	Sparse scalp hair, Miscarriage, Abnormal hair whorl, Premature graying of hair, Hyperkeratosis, W...	ORPHA:902
Cardiofaciocutaneous Syndrome	Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Low posterior hairline, Fine hair, ...	ORPHA:1340
Autoinflammation With Arthritis And Dyskeratosis	Thyroiditis, Uveitis, Palmoplantar hyperkeratosis, Keratoconjunctivitis sicca, Follicular hyperke...	OMIM:617388
Arthrogryposis And Ectodermal Dysplasia	Absent eyebrow, Trichiasis, Hyperkeratosis, Nail dysplasia, Trichodysplasia	OMIM:601701
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Palmoplantar keratode...	OMIM:106260
Centrifugal Lipodystrophy	Inflammatory abnormality of the skin, Lymphadenitis, Alopecia	ORPHA:90156
Singleton-Merten Syndrome 2	Hyperkeratosis	OMIM:616298
Hypomelanosis Of Ito	Alopecia	OMIM:300337
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Ichthyosis follicularis, Subungual hyperkeratosis, Alopecia, Absent eyebrow, Sparse scalp hair, E...	OMIM:308205
Holocarboxylase Synthetase Deficiency	Perioral eczema, Alopecia, Eczema, Keratoconjunctivitis	ORPHA:79242
Punctate Palmoplantar Keratoderma Type 1	Hypergranulosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Orthokera...	ORPHA:79501
Alpha-Heavy Chain Disease	Alopecia	ORPHA:100025
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Curly hair, Sparse scalp hair, Eczema, Webbed neck, Hyperkeratosis, Loose anagen hair, Long eyela...	OMIM:607721
Menkes Disease	Sparse hair, Alopecia, Brittle hair, Death in childhood	OMIM:309400
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Sparse lateral eyebrow	OMIM:614564
Macs Syndrome	Alopecia, Sparse eyebrow, Bronchiectasis, Recurrent aphthous stomatitis, Ichthyosis, Sparse hair,...	OMIM:613075
Renpenning Syndrome	Abnormal hairshaft morphology, Alopecia, Thin eyebrow	ORPHA:3242
Congenital Disorder Of Glycosylation, Type Iil	Hyperkeratosis, Inflammation of the large intestine, Death in infancy	OMIM:614576
Mycetoma	Recurrent bacterial skin infections, Cobblestone-like hyperkeratosis, Osteomyelitis	ORPHA:2583
Autoimmune Lymphoproliferative Syndrome, Type Iii	Alopecia, Arthritis, Membranous nephropathy, Recurrent sinusitis, Recurrent otitis media	OMIM:615559
Adult Syndrome	Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Fine hair, Fingernail d...	ORPHA:978
Rothmund-Thomson Syndrome	Plantar hyperkeratosis, Porokeratosis, Sparse eyelashes, Alopecia totalis, Skin rash, Sparse eyeb...	ORPHA:2909
Mandibuloacral Dysplasia	Alopecia, Sparse hair, Thin skin, Acanthosis nigricans, Hypoplastic fingernail	ORPHA:2457
Sialidosis Type 1	Hyperkeratosis	ORPHA:812
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Sparse body hair	ORPHA:69735
Mixed Connective Tissue Disease	Alopecia, Pericarditis, Myositis, Skin rash, Gastritis, Myocarditis, Arthritis, Keratoconjunctivi...	ORPHA:809
Hypergonadotropic Hypogonadism And Partial Alopecia	Alopecia	OMIM:241090
Bone Marrow Failure Syndrome 3	Eczema, Hyperkeratosis, Nail dystrophy, Small nail, Sparse hair, Aplasia/Hypoplasia of the eyebrow	OMIM:617052
Cardiofaciocutaneous Syndrome 1	Absent eyebrow, Curly hair, Slow-growing hair, Absent eyelashes, Atopic dermatitis, Low posterior...	OMIM:115150
Ramon Syndrome	Hyperkeratosis, Juvenile rheumatoid arthritis, Hypertrichosis	OMIM:266270
Pigmented Nodular Adrenocortical Disease, Primary, 4	Alopecia, Acne, Hirsutism	OMIM:615830
Omenn Syndrome	Thickened skin, Alopecia, Pneumonia, Erythroderma	OMIM:603554
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Alopecia, Brittle hair	ORPHA:50812
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia, Glomerulonephritis, Eczema, Hepatitis, Arthritis, Erythroderma	OMIM:304790
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Alopecia	ORPHA:88630
Abnormal Hair, Joint Laxity, And Developmental Delay	Alopecia, Fragile nails, Small nail, Recurrent otitis media, Pili torti, Trichorrhexis nodosa, Sp...	OMIM:261990
Oculocerebrocutaneous Syndrome	Alopecia	OMIM:164180
Meige Disease	Recurrent bacterial skin infections, Cobblestone-like hyperkeratosis, Recurrent skin infections	ORPHA:90186
Monosomy 18P	Webbed neck, Alopecia, Low posterior hairline	ORPHA:1598
Acrodermatitis Enteropathica	Ridged nail, Abnormal eyebrow morphology, Alopecia, Pustule, Paronychia, Cheilitis, Conjunctiviti...	ORPHA:37
Noonan Syndrome 10	Sparse eyebrow, Hyperkeratosis, Curly hair, Webbed neck	OMIM:616564
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Optic disc pallor, Retinal dystrophy, Macular coloboma, Aplasia/Hypoplasia of the optic nerve, Hb...	ORPHA:423479
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Coarse hair, Brittle hair, Nail dystrophy	ORPHA:75389
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Alopecia, Chronic active hepatitis, Atrophic gastritis, Iridocyclitis, Chronic mucocutaneous cand...	OMIM:240300
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Small nail, Ichthyosis	ORPHA:166035
Hemifacial Atrophy, Progressive	Patchy alopecia, Poliosis	OMIM:141300
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Kury-Isidor Syndrome	Recurrent otitis media, Alopecia, Hypertrichosis	OMIM:619762
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:612561
Premature Aging Syndrome, Penttinen Type	Thickened skin, Palmoplantar hyperkeratosis, Hyperkeratosis, Thin skin, Sparse hair	OMIM:601812
Adams-Oliver Syndrome 2	Alopecia, Low anterior hairline, Small nail	OMIM:614219
Satoyoshi Syndrome	Alopecia, Alopecia universalis	OMIM:600705
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Hyperkeratosis, Pilomatrixoma	OMIM:620189
Eec Syndrome	Slow-growing hair, Sparse eyebrow, Keratitis, Nail pits, Fine hair, Inflammatory abnormality of t...	ORPHA:1896
X-Linked Dominant Chondrodysplasia Punctata	Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Erythroderma...	ORPHA:35173
Keutel Syndrome	Recurrent otitis media, Alopecia, Recurrent sinusitis	ORPHA:85202
Gaucher Disease, Perinatal Lethal	Neonatal death, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis	OMIM:608013
Alstrom Syndrome	Alopecia, Chronic active hepatitis, Recurrent pneumonia, Tubulointerstitial nephritis, Otitis med...	OMIM:203800
Autoimmune Polyendocrinopathy Type 2	Alopecia, Hashimoto thyroiditis	ORPHA:3143
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Recurrent skin infections, Palmoplantar keratoderma, Nail dystrophy, Onychogryposis	ORPHA:79396
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Hyperkeratosis, High anterior hairline	OMIM:615510
Pediatric Systemic Lupus Erythematosus	Alopecia, Myositis, Skin rash, Discoid lupus rash, Arthritis, Malar rash, Nephritis	ORPHA:93552
Fucosidosis	Generalized hyperkeratosis, Abnormality of the nail	ORPHA:349
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Episcleritis, Absent eyebrow, Alopecia, Thin fingernail, Eczema, Abnormal eyelash morphology, Abn...	ORPHA:2273
Autoimmune Polyendocrinopathy Type 1	Alopecia, Abnormal fingernail morphology, Chronic mucocutaneous candidiasis	ORPHA:3453
Dyskeratosis Congenita	Abnormal eyebrow morphology, Alopecia, Abnormal fingernail morphology, Abnormal eyelash morpholog...	ORPHA:1775
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Alopecia	OMIM:612079
Flynn-Aird Syndrome	Alopecia	ORPHA:2047
Johnson Neuroectodermal Syndrome	Sparse hair, Absent eyebrow, Alopecia, Absent eyelashes	ORPHA:2316
Leprosy	Absent eyebrow, Alopecia, Loss of eyelashes, Uveitis, Hyperkeratosis, Iritis, Sparse body hair	ORPHA:548
Xeroderma Pigmentosum	Alopecia, Keratitis, Thickened skin, Hyperkeratosis, Thin skin, Blepharitis	ORPHA:910
Biotinidase Deficiency	Alopecia, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Conjunctivitis	OMIM:253260
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom...	ORPHA:231222
Kindler Epidermolysis Bullosa	Recurrent skin infections, Cheilitis, Hyperkeratosis, Inflammation of the large intestine, Palmop...	ORPHA:2908
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Noonan Syndrome 2	Sparse eyebrow, Hyperkeratosis, Curly hair, Low posterior hairline	OMIM:605275
Dyskeratosis Congenita, Autosomal Recessive 6	Sparse hair, Alopecia, Nail dystrophy	OMIM:616353
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Psoriasiform dermatitis	ORPHA:2237
Hermansky-Pudlak Syndrome	Hyperkeratosis, Thickened skin, Hypopigmentation of hair, Long eyelashes	ORPHA:79430
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Iridocyclitis, Alopecia, Pancreatitis	ORPHA:412057
Ullrich Congenital Muscular Dystrophy 1	Follicular hyperkeratosis	OMIM:254090
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Hyperconvex fingernails, Alopecia, Hypoplastic fingernail	ORPHA:257
Bethlem Myopathy	Hyperkeratosis	ORPHA:610
Systemic Sclerosis	Alopecia, Pericarditis, Osteomyelitis, Nail bed telangiectasia, Glomerulonephritis, Recurrent ski...	ORPHA:90291
Mandibulofacial Dysostosis With Alopecia	Alopecia, Sparse eyelashes	OMIM:616367
Schimmelpenning-Feuerstein-Mims Syndrome	Alopecia, Ichthyosis	OMIM:163200
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse pubic hair, Nai...	OMIM:129900
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Alopecia, Fine hair	ORPHA:228390
Gomez-Lopez-Hernandez Syndrome	Alopecia	OMIM:601853
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Microcytic anemia	ORPHA:98791
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Alopecia, Supernumerary nipple	ORPHA:3224
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse pubic hair, Nai...	OMIM:604292
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Alopecia, Erythroderma	ORPHA:169154
Porphyria, Congenital Erythropoietic	Absent eyebrow, Alopecia, Thickened skin, Loss of eyelashes, Conjunctivitis, Scleroderma, Hypertr...	OMIM:263700
Mandibuloacral Dysplasia With Type B Lipodystrophy	Sparse hair, Death in early adulthood, Alopecia, Brittle hair	OMIM:608612
Chime Syndrome	Sparse hair, Hyperkeratosis, Fine hair, Ichthyosis	ORPHA:3474
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Alopecia	OMIM:600785
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Hypoplastic toenails, Absent eyela...	ORPHA:544488
Lmna-Related Cardiocutaneous Progeria Syndrome	Absent eyebrow, Absent eyelashes, Premature graying of hair, Aortic root aneurysm, Sparse hair, S...	ORPHA:363618
Holocarboxylase Synthetase Deficiency	Alopecia, Skin rash	OMIM:253270
Mandibuloacral Dysplasia With Type B Lipodystrophy	Abnormal hair morphology, Alopecia, Nail dystrophy, Thin skin	ORPHA:90154
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Johanson-Blizzard Syndrome	Death in infancy, Alopecia, Abnormal hair pattern	ORPHA:2315
Hemochromatosis, Type 1	Alopecia	OMIM:235200
Bartsocas-Papas Syndrome	Hypoplastic toenails, Sparse or absent eyelashes, Alopecia totalis, Aplasia/Hypoplasia of the eye...	ORPHA:1234
Beta-Thalassemia Major	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad...	ORPHA:231214
Dyskeratosis Congenita, Autosomal Dominant 1	Ridged nail, Alopecia, Nail pits, Premature graying of hair, Interstitial pneumonitis, Nail dystr...	OMIM:127550
Celiac Disease, Susceptibility To, 1	Alopecia, Eczema, Thyroiditis, Recurrent aphthous stomatitis, Stomatitis	OMIM:212750
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Alopecia, Nail dystrophy, Nail dysplasia	OMIM:175500
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Alopecia, Conjunctivitis, Nail dystrophy, Nail dysplasia	OMIM:226600
Adams-Oliver Syndrome	Alopecia, Aplastic/hypoplastic toenail, Absent fingernail, Sparse hair, Hypoplastic fingernail	ORPHA:974
Lymphatic Filariasis	Glomerulonephritis, Orchitis, Lymphadenitis, Knee osteoarthritis, Epididymitis, Hyperkeratosis	ORPHA:2035
Chondrodysplasia Punctata 2, X-Linked Dominant	Sparse eyelashes, Sparse eyebrow, Congenital ichthyosiform erythroderma, Patchy alopecia, Congeni...	OMIM:302960
Rothmund-Thomson Syndrome Type 1	Plantar hyperkeratosis, Porokeratosis, Alopecia totalis, Sparse or absent eyelashes, Nail dysplas...	ORPHA:221008
Insulin-Resistance Syndrome Type B	Alopecia, Skin rash, Pneumonia, Osteoarthritis, Acanthosis nigricans, Nephritis, Hirsutism	ORPHA:2298
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy	Alopecia	OMIM:600142
Atypical Werner Syndrome	Abnormal hair quantity, Alopecia, Abnormal hair morphology, Abnormal hair whorl, Premature grayin...	ORPHA:79474
Satoyoshi Syndrome	Abnormal hair morphology, Sparse or absent eyelashes, Alopecia universalis	ORPHA:3130
Giant Cell Arteritis	Arthritis, Alopecia, Abdominal aortic aneurysm, Pericarditis	ORPHA:397
Fibrodysplasia Ossificans Progressiva	Alopecia	OMIM:135100
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormal eyebrow morphology, Alopecia, Absent eyelashes, Breast aplasia, Thin skin	ORPHA:90153
Hutchinson-Gilford Progeria Syndrome	Alopecia	OMIM:176670
Oculocerebrocutaneous Syndrome	Alopecia, Abnormal fingernail morphology	ORPHA:1647
Immunodeficiency 7	Recurrent otitis media, Patchy alopecia, Chronic oral candidiasis	OMIM:615387
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Abnormality of hair texture, Thickened skin, Synophrys, Hypoplastic sweat glands, Epidermal thick...	ORPHA:73223
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Gapo Syndrome	Sparse eyebrow, Early balding, Alopecia, Sparse eyelashes	ORPHA:2067
Stevens-Johnson Syndrome	Conjunctivitis, Pancreatitis, Acantholysis	ORPHA:36426
Adrenoleukodystrophy	Alopecia	OMIM:300100
Leprechaunism	Facial hypertrichosis, Thickened skin, Hyperkeratosis, Acanthosis nigricans, Hypertrichosis	ORPHA:508
Short Syndrome	Sparse hair, Alopecia	ORPHA:3163
Neutral Lipid Storage Disease With Ichthyosis	Alopecia, Congenital nonbullous ichthyosiform erythroderma	ORPHA:98907
Koolen-De Vries Syndrome Due To A Point Mutation	Alopecia, Eczema, Hyperkeratosis, Ichthyosis, Recurrent otitis media, Fair hair, Aortic aneurysm	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Alopecia, Eczema, Hyperkeratosis, Ichthyosis, Recurrent otitis media, Fair hair, Aortic aneurysm	ORPHA:363958
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Alopecia, Seborrheic dermatitis	OMIM:210210
Toxic Epidermal Necrolysis	Conjunctivitis, Pancreatitis, Acantholysis	ORPHA:537
Rothmund-Thomson Syndrome Type 2	Plantar hyperkeratosis, Porokeratosis, Alopecia totalis, Sparse or absent eyelashes, Nail dysplas...	ORPHA:221016
Dyskeratosis Congenita, Autosomal Dominant 3	Premature graying of hair, Alopecia, Nail dysplasia, Fine hair	OMIM:613990
Relapsing Polychondritis	Episcleritis, Alopecia, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Hepatitis, Uve...	ORPHA:728
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Hyperkeratosis	ORPHA:79280
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Trichiasis, Acantho...	ORPHA:95455
Biotinidase Deficiency	Skin rash, Alopecia, Eczematoid dermatitis, Conjunctivitis	ORPHA:79241
Juvenile Dermatomyositis	Alopecia, Pericarditis, Skin rash, Myositis, Pruritus, Arthritis	ORPHA:93672
Mandibuloacral Dysplasia With Type A Lipodystrophy	Acanthosis nigricans, Sparse scalp hair, Alopecia, Onychogryposis	OMIM:248370
Autoimmune Polyendocrine Syndrome, Type Ii	Alopecia, Hepatitis, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Chronic hepatitis	OMIM:269200
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Alopecia, Acne, Hirsutism	ORPHA:189427
Leigh Syndrome	Alopecia, Frontal hirsutism, Eczema, Hypertrichosis	ORPHA:506
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Alopecia, Acne, Hirsutism	ORPHA:90795
Polyendocrine-Polyneuropathy Syndrome	Alopecia	ORPHA:453533
Restrictive Dermopathy 1	Sparse eyelashes, Short nail, Epidermal hyperkeratosis, Absent eyelashes, Sparse eyebrow, Stillbi...	OMIM:275210
Autoimmune Polyendocrinopathy Type 4	Alopecia, Atrophic gastritis, Iridocyclitis, Hepatitis, Chronic mucocutaneous candidiasis, Tubulo...	ORPHA:227990
Rothmund-Thomson Syndrome, Type 2	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, ...	OMIM:268400
Trichotillomania	Alopecia	OMIM:613229
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:619769
Autosomal Dominant Hypocalcemia	Alopecia, Eczema, Abnormal fingernail morphology, Abnormality of the nail	ORPHA:428
Mogs-Cdg	Alopecia, Fair hair, Long eyelashes, Hirsutism	ORPHA:79330
Restrictive Dermopathy	Short nail, Epidermal hyperkeratosis, Sparse eyebrow, Aplasia/Hypoplastia of the eccrine sweat gl...	ORPHA:1662
Progeria-Short Stature-Pigmented Nevi Syndrome	Alopecia, Low posterior hairline	ORPHA:2959
Hallermann-Streiff Syndrome	Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Uveitis, Sparse hair, Sp...	ORPHA:2108
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy...	OMIM:260400
Localized Scleroderma	Abnormal skin adnexa morphology, Fasciitis, Thickened skin, Uveitis, Arthritis, Patchy alopecia, ...	ORPHA:90289
Ane Syndrome	Alopecia	ORPHA:157954
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Abnormal eyebrow morphology, Alopecia, Sparse facial hair, Sparse eyebrow, Sparse pubic hair, Alo...	ORPHA:2232
Autoimmune Polyendocrinopathy Type 3	Alopecia, Atrophic gastritis, Iridocyclitis, Hepatitis, Chronic mucocutaneous candidiasis, Tubulo...	ORPHA:227982
Gapo Syndrome	Alopecia, Sparse eyelashes, Sparse eyebrow, Hypoplastic nipples, Nail dysplasia, Sparse hair, Bre...	OMIM:230740
6Q Terminal Deletion Syndrome	Hyperkeratosis, Low anterior hairline, Highly arched eyebrow	ORPHA:75857
Frontonasal Dysplasia 2	Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Fine hair, Sparse hair	OMIM:613451
Classical-Like Ehlers-Danlos Syndrome Type 2	Alopecia, Keratoconjunctivitis sicca, Aortic root aneurysm, Periodontitis, Webbed neck	ORPHA:536532
Peeling Skin Syndrome 1	Brittle hair, Pruritus, Onycholysis, Nail dystrophy, Erythroderma	OMIM:270300
Hypocalcemic Vitamin D-Resistant Rickets	Alopecia	ORPHA:93160
Thymoma	Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis	ORPHA:99867
Behcet Syndrome	Erythema nodosum, Iridocyclitis, Epididymitis, Arthritis, Patchy alopecia, Iritis	OMIM:109650
Dyskeratosis Congenita, Digenic	Alopecia, Sparse eyelashes, Nail dystrophy	OMIM:620040
Kyphoscoliotic Ehlers-Danlos Syndrome	Synophrys, Thin skin, Follicular hyperkeratosis, Aortic aneurysm	ORPHA:536545
Systemic Lupus Erythematosus	Alopecia, Lupus nephritis, Discoid lupus rash, Cheilitis, Arthritis, Malar rash, Serositis	ORPHA:536
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten...	ORPHA:124
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Sparse scalp hair, Death in infancy, Sparse eyelashes, Sparse eyebrow, Fine hair, Hyperkeratosis,...	OMIM:210710
Nestor-Guillermo Progeria Syndrome	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dystrophy	OMIM:614008
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Optic atrophy, Abnormal hemoglobin, Anemia	ORPHA:847
Kanzaki Disease	Hyperkeratosis	OMIM:609242
Vitamin D-Dependent Rickets, Type 2A	Alopecia universalis	OMIM:277440
Focal Dermal Hypoplasia	Alopecia, Abnormality of the nail, Thin skin	ORPHA:2092
Lead Poisoning	Imbalanced hemoglobin synthesis, Anemia, Abnormal T cell morphology	ORPHA:330015
Encephalocraniocutaneous Lipomatosis	Alopecia	OMIM:613001
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Recurrent pneumonia, Thin skin, Follicular hyperkeratosis	OMIM:225400
Bartsocas-Papas Syndrome 1	Absent eyebrow, Alopecia, Sparse scalp hair, Alopecia totalis, Absent eyelashes, Small nail, Anon...	OMIM:263650
Severe Generalized Junctional Epidermolysis Bullosa	Alopecia, Recurrent skin infections, Pneumonia, Paronychia, Gastrointestinal inflammation, Pyoder...	ORPHA:79404
Colchicine Poisoning	Myocarditis, Alopecia	ORPHA:31824
Autosomal Recessive Robinow Syndrome	Death in infancy, Alopecia, Long eyelashes, Fingernail dysplasia, Chronic otitis media	ORPHA:1507
Chronic Graft Versus Host Disease	Alopecia, Fasciitis, Thickened skin, Urinary bladder inflammation, Bronchiectasis, Arthritis, Ker...	ORPHA:99921
Distal Deletion 19P	Alopecia, Thick eyebrow	ORPHA:96129
Fabry Disease	Hyperkeratosis, Arthritis	ORPHA:324
Orofaciodigital Syndrome Type 1	Alopecia, Brittle hair, Coarse hair, Sparse hair, Chronic otitis media	ORPHA:2750
Kikuchi-Fujimoto Disease	Alopecia, Skin rash, Pruritus, Myocarditis, Pustule, Malar rash	ORPHA:50918
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Alopecia totalis	OMIM:618775
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:301040
Dyskeratosis Congenita, X-Linked	Ridged nail, Split nail, Alopecia, Sparse eyelashes, Pterygium of nails, Premature graying of hai...	OMIM:305000
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Follicular hyperkeratosis	OMIM:614557
Scalp-Ear-Nipple Syndrome	Sparse axillary hair, Sparse pubic hair, Thickened skin, Fine hair, Pyelonephritis, Patchy alopec...	OMIM:181270
Warburg-Cinotti Syndrome	Thin skin, Follicular hyperkeratosis	OMIM:618175
Orofaciodigital Syndrome I	Sparse hair, Alopecia, Dry hair	OMIM:311200
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Turner Syndrome Due To Structural X Chromosome Anomalies	Aortic arch aneurysm, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Thyroiditis...	ORPHA:99413
Turner Syndrome	Aortic arch aneurysm, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Thyroiditis...	ORPHA:881
Mosaic Monosomy X	Aortic arch aneurysm, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Thyroiditis...	ORPHA:99228
Monosomy X	Aortic arch aneurysm, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Thyroiditis...	ORPHA:99226
Wiedemann-Rautenstrauch Syndrome	Sparse scalp hair, Absent eyebrow, Alopecia, Sparse eyelashes, Pneumonia, Absent eyelashes, Spars...	OMIM:264090
Linear Nevus Sebaceus Syndrome	Alopecia	ORPHA:2612
Autosomal Dominant Robinow Syndrome	Alopecia, Curly eyelashes, Long eyelashes, Fingernail dysplasia, Ridged fingernail, Onychogryposi...	ORPHA:3107
Bloom Syndrome	Sparse eyelashes, Pneumonia, Skin rash, Paronychia, Cheilitis, Uveitis, Patchy alopecia, Rhinitis...	ORPHA:125
Sympathetic Ophthalmia	Alopecia, Posterior uveitis, Poliosis	ORPHA:79098
Woodhouse-Sakati Syndrome	Sparse hair, Alopecia, Fine hair	OMIM:241080
Encephalocraniocutaneous Lipomatosis	Abnormal eyelash morphology, Alopecia	ORPHA:2396
Cowden Syndrome	Palmoplantar keratoderma, Generalized hyperkeratosis	ORPHA:201
African Trypanosomiasis	Alopecia, Pericarditis, Miscarriage, Keratitis, Myocarditis, Pruritus, Optic neuritis, Conjunctiv...	ORPHA:3385
Sarcoidosis	Alopecia, Maculopapular exanthema, Erythema nodosum, Bronchiectasis, Uveitis, Tubulointerstitial ...	ORPHA:797
Viss Syndrome	Sparse scalp hair, Alopecia, Chronic gastritis, Eczema, Atopic dermatitis, Ascending tubular aort...	OMIM:619472
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Sparse hair, Alopecia, Loss of eyelashes, Thin eyebrow	ORPHA:2636
Adams-Oliver Syndrome 1	Alopecia, Supernumerary nipple, Small nail	OMIM:100300
Proteus Syndrome	Thickened skin, Generalized hyperkeratosis, Abnormality of the nail, Generalized hirsutism	ORPHA:744
Steinert Myotonic Dystrophy	Early balding, Alopecia	ORPHA:273
Vascular Ehlers-Danlos Syndrome	Alopecia, Abnormality of hair texture, Abnormal eyelash morphology, Osteoarthritis, Ascending tub...	ORPHA:286
Hutchinson-Gilford Progeria Syndrome	Absent eyebrow, Alopecia totalis, Osteoarthritis, Loss of eyelashes, Patchy alopecia, Dystrophic ...	ORPHA:740
Woodhouse-Sakati Syndrome	Alopecia, Aplasia/Hypoplasia of the eyebrow	ORPHA:3464
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia	OMIM:619321
Ring Chromosome 13 Syndrome	Alopecia	ORPHA:96176
Pallister-Killian Syndrome	Sparse scalp hair, Alopecia, Sparse eyelashes, Supernumerary nipple, Sparse eyebrow, Sparse anter...	OMIM:601803

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 Cdsn

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 Cdsn.

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

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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
Cdsn^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Cdsn^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice
Cdsn^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, 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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Gene: Cdsn MGI:3505689

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Electrocardiogram (ECG)

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X-ray

Human diseases caused by Cdsn mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data