Gene: Card14 MGI:2386258

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

caspase recruitment domain family, member 14

Synonyms:

CARMA2, Bimp2

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 Card14 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 Card14 (3 diseases)
Human diseases predicted to be associated with Card14 (828 diseases)

The table below shows human diseases associated to Card14 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Psoriasis 2	Hyperkeratosis, Psoriasiform dermatitis, Scaling skin, Parakeratosis	OMIM:602723
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Palmoplantar keratoderma, Parakeratosis, Hypergranulosis, Orthokeratosis	OMIM:173200
Pityriasis Rubra Pilaris	Eczema, Erythroderma, Pustule, Subungual hyperkeratosis, Pruritus, Thickened skin, Palmoplantar k...	ORPHA:2897

The table below shows human diseases predicted to be associated to Card14 by phenotypic similarity.

Disease	Matching phenotypes	Source
Candidiasis, Familial, 6	Chronic mucocutaneous candidiasis	OMIM:613956
Lymphoblastic Transformation, Intrinsic Defect In	Chronic mucocutaneous candidiasis	OMIM:247450
Lymphoblastic Transformation, Inhibition Of	Chronic mucocutaneous candidiasis	OMIM:247430
Lymphokine Deficiency	Chronic mucocutaneous candidiasis	OMIM:247650
Acne Inversa, Familial, 3	Perifolliculitis, Acne inversa, Chronic furunculosis, Recurrent cutaneous abscess formation	OMIM:613737
Acne Inversa, Familial, 1	Acne inversa	OMIM:142690
X-Linked Intellectual Disability-Seizures-Psoriasis Syndrome	Psoriasiform dermatitis	ORPHA:3052
Mental Retardation And Psoriasis	Psoriasiform dermatitis	OMIM:309480
Psoriasis 2	Hyperkeratosis, Psoriasiform dermatitis, Scaling skin, Parakeratosis	OMIM:602723
Ichthyosis, Congenital, Autosomal Recessive 6	Dry skin, Erythroderma, Palmoplantar keratoderma, Parakeratosis, Congenital nonbullous ichthyosif...	OMIM:612281
Palmoplantar Keratoderma, Norrbotten Recessive Type	Recurrent cutaneous fungal infections, Palmoplantar keratoderma, Hyperkeratosis	OMIM:244850
Erythrokeratodermia Variabilis Et Progressiva 6	Pruritus, Superficial dermal perivascular inflammatory infiltrate, Parakeratosis	OMIM:618531
Pruritic Urticarial Papules And Plaques Of Pregnancy	Eczematoid dermatitis, Pruritis on breast, Pruritis on hand, Pruritis on abdomen, Pruritus, Stria...	ORPHA:64745
Acquired Ichthyosis	Pruritus, Palmoplantar keratoderma, Erythema, Recurrent skin infections, Ichthyosis, Hyperkeratos...	ORPHA:454
Ichthyosis, Lamellar, Autosomal Dominant	Pruritus, Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis	OMIM:146750
Ichthyosis Vulgaris	Dry skin, Eczematoid dermatitis, Ichthyosis	OMIM:146700
Keratoderma Hereditarium Mutilans With Ichthyosis	Palmoplantar keratoderma, Parakeratosis, Hypergranulosis, Congenital nonbullous ichthyosiform ery...	ORPHA:79395
Porokeratosis Plantaris Palmaris Et Disseminata	Hyperkeratotic papule, Pruritus, Palmoplantar hyperkeratosis, Porokeratosis	ORPHA:737
Ichthyosis, Congenital, Autosomal Recessive 8	Erythema, Hypergranulosis, Orthokeratosis, Ichthyosis, Hyperkeratosis, Congenital ichthyosiform e...	OMIM:613943
Hypotrichosis Simplex Of The Scalp	Atopic dermatitis, Allergic rhinitis, Pruritus, Parakeratosis, Hyperkeratosis, Scaling skin	ORPHA:90368
Porokeratosis Of Mibelli	Pruritus, Porokeratosis, Hyperkeratosis	ORPHA:735
Psoriasis 15, Pustular, Susceptibility To	Psoriasiform dermatitis	OMIM:616106
Immunodeficiency 51	Eczema, Folliculitis, Pustule, Chronic furunculosis, Pneumonia, Chronic oral candidiasis, Recurre...	OMIM:613953
Peeling Skin Syndrome 6	Pruritus, Orthokeratosis, Parakeratosis	OMIM:618084
Benign Cephalic Histiocytosis	Inflammatory abnormality of the skin, Skin rash	ORPHA:157997
Peeling Skin Syndrome 4	Palmoplantar keratoderma, Orthokeratosis, Ichthyosis, Hyperkeratosis, Scaling skin	OMIM:607936
Ichthyosis, Congenital, Autosomal Recessive 5	Erythroderma, Palmoplantar keratoderma, Parakeratosis, Congenital nonbullous ichthyosiform erythr...	OMIM:604777
Krt1-Related Diffuse Nonepidermolytic Keratoderma	Atopic dermatitis, Dry skin, Erythema, Scaling skin, Nonepidermolytic palmoplantar hyperkeratosis...	ORPHA:530838
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa, Foll...	OMIM:613736
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Pruritus, Erythema migrans, Skin vesicle, Parakeratosis	ORPHA:158681
Ulerythema Ophryogenesis	Hyperkeratotic papule, Dry skin, Acne, Follicular hyperkeratosis, Facial erythema, Contact dermat...	ORPHA:3406
Psoriasis 1, Susceptibility To	Psoriasiform dermatitis, Arthritis	OMIM:177900
Keratosis, Focal Palmoplantar And Gingival	Circumungual hyperkeratosis, Focal friction-related palmoplantar hyperkeratosis, Gingival hyperke...	OMIM:148730
Ichthyosis, Congenital, Autosomal Recessive 14	Orthokeratotic hyperkeratosis, Pruritus, Erythema, Hyperkeratosis, Scaling skin	OMIM:617571
Aquagenic Palmoplantar Keratoderma	Atopic dermatitis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Palmar pruritus, Exce...	ORPHA:498359
Dermatitis, Atopic	Atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Recurrent skin infections, Ichthyosis, Fa...	OMIM:603165
Bazex Syndrome	Acanthosis nigricans, Pruritus, Palmoplantar keratoderma, Parakeratosis, Hyperkeratosis, Scaling ...	ORPHA:166113
Ichthyosis Hystrix Of Curth-Macklin	Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Ichthyosis, Hyperkeratosis	ORPHA:79503
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Psoriasiform dermatitis, Erythroderma, Acantholysis, Palmoplantar keratoderma, Hypergranulosis, R...	OMIM:615508
Verrucous Hemangioma	Inflammatory abnormality of the skin, Hyperkeratotic papule	ORPHA:464318
Vulvovaginal Gingival Syndrome	Pruritus, Erythema, Parakeratosis	ORPHA:83453
Familial Reactive Perforating Collagenosis	Inflammatory abnormality of the skin, Hyperkeratotic papule, Pruritus, Perifolliculitis, Maculopa...	ORPHA:79147
Non-Epidermolytic Palmoplantar Keratoderma	Pruritus, Erythema, Diffuse palmoplantar hyperkeratosis, Skin ulcer	ORPHA:2337
Palmoplantar Keratoderma And Congenital Alopecia 2	Sclerodactyly, Facial erythema, Hyperkeratosis, Dry skin, Palmoplantar hyperkeratosis	OMIM:212360
Ichthyosis, Congenital, Autosomal Recessive 13	Hypergranulosis, Palmoplantar hyperkeratosis, Hyperkeratosis	OMIM:617574
Bathing Suit Ichthyosis	Erythroderma, Thickened skin, Parakeratosis, Congenital nonbullous ichthyosiform erythroderma, Ic...	ORPHA:100976
Vohwinkel Syndrome, Variant Form	Hypergranulosis, Orthokeratosis, Hyperkeratosis, Parakeratosis	OMIM:604117
Mycosis Fungoides	Psoriasiform dermatitis, Eczema, Pruritus	OMIM:254400
Epidermolysis Bullosa Simplex 1C, Localized	Hyperkeratosis	OMIM:131800
Classic Mycosis Fungoides	Eczema, Pruritus, Erythema, Skin rash, Hyperkeratosis, Dry skin, Skin ulcer	ORPHA:2584
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Predominantly dermal neutrophilic infiltrate, Pustule, Superficial dermal perivascular inflammato...	ORPHA:284426
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Pruritus, Palmoplantar keratoderma, Erythema, Parakeratosis, Ichthyosis, Hyperkeratosis	OMIM:615821
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Palmoplantar keratoderma, Parakeratosis, Hypergranulosis, Orthokeratosis	OMIM:173200
Psoriasis 14, Pustular	Psoriasiform dermatitis, Cholangitis, Pustule, Oligoarthritis, Erythema, Parakeratosis	OMIM:614204
Pemphigus Foliaceus	Psoriasiform dermatitis, Erythroderma, Pustule, Acantholysis, Pruritus, Erythema, Scaling skin, C...	ORPHA:79481
Erythrokeratodermia Variabilis Et Progressiva 5	Palmoplantar hyperkeratosis, Hyperkeratosis	OMIM:617756
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma	Linear arrays of macular hyperkeratoses in flexural areas, Parakeratosis, Congenital nonbullous i...	OMIM:601952
Autosomal Dominant Epidermolytic Ichthyosis	Erythroderma, Palmoplantar keratoderma, Ichthyosis, Hyperkeratosis, Congenital bullous ichthyosif...	ORPHA:312
Paget Disease, Extramammary	Eczematoid dermatitis	OMIM:167300
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2	Palmoplantar keratoderma, Hyperkeratosis	OMIM:616400
Dissecting Cellulitis Of The Scalp	Pruritus, Recurrent skin infections	ORPHA:345
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Cholangitis, Parakeratosis, Orthokeratosis, Ichthyosis, Dry skin	OMIM:607626
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema	ORPHA:86923
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Palmoplantar keratoderma, Parakeratosis, Posterior blepharitis, Palmopl...	OMIM:300918
Palmoplantar Keratoderma, Punctate Type Iii	Acrokeratosis, Hyperkeratosis	OMIM:101850
Cole Disease	Hypergranulosis, Palmoplantar keratoderma, Hyperkeratosis	OMIM:615522
Sjogren-Larsson-Like Ichthyosis Without Cns Or Eye Involvement	Congenital ichthyosiform erythroderma, Hyperkeratosis	OMIM:270220
Dermatoleukodystrophy	Thickened skin, Hyperkeratosis	ORPHA:1659
Erythrokeratodermia Variabilis Et Progressiva 3	Hypergranulosis, Palmoplantar keratoderma, Erythema, Hyperkeratosis	OMIM:617525
Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome	Dry skin, Ichthyosis	ORPHA:2271
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Orthokeratosis, Acne inversa, Hyperkeratosis	OMIM:617337
Kerion Celsi	Inflammatory abnormality of the skin, Recurrent skin infections, Recurrent cutaneous abscess form...	ORPHA:499
Infantile Digital Fibromatosis	Hyperkeratosis, Parakeratosis	ORPHA:199267
Palmoplantar Keratoderma, Punctate Type Ia	Hypergranulosis, Punctate palmoplantar hyperkeratosis, Orthokeratosis	OMIM:148600
Chilblain Lupus	Inflammatory abnormality of the skin, Pruritis on hand, Discoid lupus rash, Malar rash, Skin rash...	ORPHA:90280
Acrokeratosis Verruciformis	Acrokeratosis, Hyperkeratosis	OMIM:101900
Palmoplantar Keratoderma-Deafness Syndrome	Palmoplantar keratoderma, Hyperkeratosis	ORPHA:2202
Mental Retardation, Fra12A Type	Hyperkeratosis	OMIM:136630
Mal De Meleda	Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Pa...	ORPHA:87503
Immunodeficiency 55	Dry skin, Eczema, Recurrent skin infections, Ichthyosis	OMIM:617827
Recessive X-Linked Ichthyosis	Dry skin, Ichthyosis, Hyperkeratosis	ORPHA:461
Olmsted Syndrome 2	Cheilitis, Pruritus, Palmoplantar keratoderma, Parakeratosis, Perioral hyperkeratosis, Hyperkerat...	OMIM:619208
Erythrokeratodermia Variabilis Et Progressiva 4	Erythema, Palmoplantar hyperkeratosis, Hyperkeratosis	OMIM:617526
Hyperkeratosis Lenticularis Perstans	Pruritus, Hyperkeratosis lenticularis perstans, Skin ulcer	ORPHA:409
Congenital Panfollicular Nevus	Hyperkeratosis	ORPHA:139414
Porokeratosis 7, Multiple Types	Porokeratosis, Parakeratosis	OMIM:614714
Tylosis With Esophageal Cancer	Diffuse palmoplantar hyperkeratosis, Parakeratosis	OMIM:148500
Dowling-Degos Disease 2	Hyperkeratotic papule, Follicular hyperkeratosis	OMIM:615327
Acrokeratoelastoidosis Of Costa	Hyperkeratotic papule, Orthokeratosis, Palmoplantar hyperkeratosis, Hypergranulosis	ORPHA:38
Bleeding Disorder, Platelet-Type, 21	Psoriasiform dermatitis, Eczema	OMIM:617443
Huriez Syndrome	Sclerodactyly, Dry skin, Palmoplantar keratoderma, Lack of skin elasticity	ORPHA:384
Epidermolysis Bullosa Dystrophica, Pretibial	Pruritus, Hyperkeratosis	OMIM:131850
Olmsted Syndrome 1	Pruritus, Palmoplantar keratoderma, Subungual hyperkeratosis, Parakeratosis	OMIM:614594
Immunodeficiency 15A	Recurrent otitis media, Acne inversa, Chronic mucocutaneous candidiasis, Decreased proportion of ...	OMIM:618204
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	OMIM:144150
Angioma Serpiginosum, Autosomal Dominant	Hyperkeratosis	OMIM:106050
Reticulate Acropigmentation Of Kitamura	Hyperkeratosis	OMIM:615537
Papillomatosis, Confluent And Reticulated	Hyperkeratosis	OMIM:167900
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Hyperkeratosis	OMIM:615028
Amyloidosis, Primary Localized Cutaneous, 3	Dry skin	OMIM:617920
Palmoplantar Keratoderma, Nagashima Type	Hypergranulosis, Orthokeratotic hyperkeratosis	OMIM:615598
Erythrokeratodermia Variabilis	Patchy palmoplantar hyperkeratosis, Erythema, Skin rash, Hyperkeratosis, Dry skin	ORPHA:317
Ichthyosis, Congenital, Autosomal Recessive 1	Congenital ichthyosiform erythroderma, Erythroderma, Palmoplantar hyperkeratosis, Parakeratosis	OMIM:242300
Porokeratosis 1, Multiple Types	Porokeratosis, Parakeratosis	OMIM:175800
Insulin-Resistance Syndrome Type A	Hyperkeratosis	ORPHA:2297
Hyperkeratosis-Hyperpigmentation Syndrome	Hyperkeratosis	ORPHA:1336
Porokeratosis 3, Multiple Types	Porokeratosis, Parakeratosis	OMIM:175900
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Folliculitis, Palmoplantar keratoderma, Keratitis, Follicular hyperkeratosis, Facial erythema, Dr...	OMIM:308800
Anonychia With Flexural Pigmentation	Dry skin	OMIM:106750
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Peeling Skin Syndrome 5	Hyperkeratosis	OMIM:617115
Congenital Disorder Of Glycosylation, Type If	Dry skin, Scaling skin, Erythroderma, Hyperkeratosis	OMIM:609180
Elastosis Perforans Serpiginosa	Hyperkeratotic papule, Crusting erythematous dermatitis, Cutis laxa	ORPHA:79148
Erythrokeratoderma ''En Cocardes''	Hyperkeratosis	ORPHA:315
Congenital Lethal Erythroderma	Dry skin, Congenital exfoliative erythroderma, Ichthyosis	ORPHA:1954
Erythema Nodosum, Familial	Erythema nodosum	OMIM:132990
Lamellar Ichthyosis	Erythroderma, Chronic otitis media, Pruritus, Lack of skin elasticity, Ichthyosis, Hyperkeratosis...	ORPHA:313
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Perifolliculitis	OMIM:260910
Graham Little-Piccardi-Lassueur Syndrome	Perifollicular hyperkeratosis, Pruritus	ORPHA:505
Sjögren-Larsson Syndrome	Erythema, Inflammatory abnormality of the eye, Ichthyosis, Hyperkeratosis, Dry skin	ORPHA:816
Bullous Pemphigoid	Psoriasiform dermatitis, Eczema	ORPHA:703
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Recurrent otitis media, Lymphopenia	OMIM:615615
White Sponge Nevus 2	Hyperparakeratosis	OMIM:615785
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Dry skin, Follicular hyperkeratosis	OMIM:617066
Atrophoderma Vermiculata	Hyperkeratotic papule, Pruritus, Follicular hyperkeratosis, Erythema	ORPHA:79100
Juvenile Idiopathic Arthritis	Psoriasiform dermatitis, Thickened skin, Arthritis, Uveitis, Skin rash, Generalized hyperkeratosis	ORPHA:92
Lichen Planus Pemphigoides	Conjunctivitis, Pruritus, Hyperkeratosis, Blepharitis, Skin vesicle	ORPHA:254478
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Dry skin, Cutis laxa, Generalized ichthyosis, Scaling skin, Generalized hyperkeratosis	ORPHA:2269
Anonychia With Flexural Pigmentation	Follicular hyperkeratosis, Hyperkeratosis	ORPHA:69125
Parana Hard Skin Syndrome	Thickened skin, Hyperkeratosis	ORPHA:2812
Seborrhea-Like Dermatitis With Psoriasiform Elements	Seborrheic dermatitis, Hyperkeratosis	OMIM:610227
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Psoriasiform dermatitis, Blepharitis, Ichthyosis	OMIM:616834
Tooth Agenesis, Selective, 8	Dry skin	OMIM:617073
Ichthyosis With Confetti	Erythroderma, Palmoplantar hyperkeratosis, Hyperkeratosis	OMIM:609165
Erythrokeratodermia Variabilis Et Progressiva 1	Hypergranulosis, Patchy palmoplantar hyperkeratosis, Erythroderma, Generalized hyperkeratosis	OMIM:133200
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Psoriasiform dermatitis, Eczema, Bronchiectasis, Arthritis, Splenomegaly, Crohn's disease, Autoim...	OMIM:616100
Immunodeficiency, Common Variable, 14	Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Recurrent sinusitis	OMIM:617765
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Pruritus, Plantar hyperkeratosis, Palmar hyperkeratosis, Hyperkeratosis	ORPHA:79399
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Pruritus, Palmoplantar hyperkeratosis, Hyperkeratosis	ORPHA:89838
Odontoonychodermal Dysplasia	Erythema, Hypergranulosis, Orthokeratosis, Dry skin, Plantar hyperkeratosis	OMIM:257980
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Atopic dermatitis, T lymphocytopenia, Pneumonia, Abnormally low T cell receptor excision circle l...	OMIM:618806
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Hyperkeratosis	OMIM:618339
Mannose-Binding Lectin Deficiency	Recurrent skin infections	OMIM:614372
Pachyonychia Congenita 4	Palmoplantar keratoderma, Hyperkeratosis	OMIM:615728
Uv-Sensitive Syndrome 3	Dry skin	OMIM:614640
Hypotrichosis 6	Pruritus, Follicular hyperkeratosis, Erythema	OMIM:607903
Pityriasis Rubra Pilaris	Eczema, Erythroderma, Pustule, Subungual hyperkeratosis, Pruritus, Thickened skin, Palmoplantar k...	ORPHA:2897
Netherton Syndrome	Congenital nonbullous ichthyosiform erythroderma, Allergic rhinitis, Erythroderma, Parakeratosis	OMIM:256500
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Inflammation of the large intestine, Pruritus, Acne, Arthritis, Palmopla...	ORPHA:324964
Ichthyosis, Spastic Quadriplegia, And Mental Retardation	Erythema, Scaling skin, Ichthyosis, Hyperkeratosis, Dry skin	OMIM:614457
Epidermolytic Hyperkeratosis	Congenital bullous ichthyosiform erythroderma, Erythroderma, Palmoplantar hyperkeratosis, Scaling...	OMIM:113800
Pili Torti-Onychodysplasia Syndrome	Dry skin, Generalized keratosis follicularis, Eczema, Palmoplantar keratoderma	ORPHA:2890
Superficial Epidermolytic Ichthyosis	Acantholysis, Palmoplantar keratoderma, Erythema, Thin skin, Ichthyosis	ORPHA:455
Immunodeficiency 50	Eczema, Neutropenia, Lymphopenia	OMIM:300988
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Psoriasiform dermatitis, Eczema, B lymphocytopenia, Erythroderma, T lymphocytopenia, Chronic oral...	OMIM:606367
Phenylketonuria	Dry skin, Eczema, Scleroderma	OMIM:261600
Neonatal Lupus Erythematosus	Parakeratosis, Malar rash, Maculopapular exanthema, Skin rash, Hyperkeratosis	ORPHA:398124
Lymphatic Malformation 3	Recurrent skin infections	OMIM:613480
Idiopathic Localized Lipodystrophy	Inflammatory abnormality of the skin, Pruritus, Erythema, Morphea, Scaling skin, Scleroderma	ORPHA:90158
Ichthyosis, Hystrix-Like, With Deafness	Erythroderma, Palmoplantar keratoderma, Punctate keratitis, Ichthyosis, Hyperkeratosis	OMIM:602540
Ichthyosis, Cyclic, With Epidermolytic Hyperkeratosis	Congenital bullous ichthyosiform erythroderma, Erythema, Palmoplantar hyperkeratosis, Ichthyosis	OMIM:607602
Lichen Planopilaris	Pruritus, Hepatitis, Skin ulcer, Hyperkeratosis	ORPHA:525
Kid Syndrome	Keratoconjunctivitis sicca, Psoriasiform dermatitis, Folliculitis, Recurrent cutaneous abscess fo...	ORPHA:477
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive	Eczema, Pneumonia, Splenomegaly, Otitis media, T lymphocytopenia	OMIM:608971
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Nephritis, Arthritis	OMIM:216950
Familial Benign Chronic Pemphigus	Erythema, Acantholysis, Skin vesicle, Hyperkeratosis	ORPHA:2841
Ichthyosis, Congenital, Autosomal Recessive 10	Palmoplantar keratoderma, Erythroderma	OMIM:615024
Neuropathy, Hereditary Sensory, Type If	Hyperkeratosis, Osteomyelitis	OMIM:615632
Dermoodontodysplasia	Dry skin	OMIM:125640
Spondyloarthropathy, Susceptibility To, 1	Psoriasiform dermatitis, Inflammation of the large intestine, Hip osteoarthritis, Oligoarthritis,...	OMIM:106300
Ichthyosis, Congenital, Autosomal Recessive 3	Congenital nonbullous ichthyosiform erythroderma, Palmoplantar keratoderma, Erythema, Hyperkeratosis	OMIM:606545
Thyrotropin-Releasing Hormone Deficiency	Dry skin	OMIM:275120
Grubben-De Cock-Borghgraef Syndrome	Dry skin, Eczema	ORPHA:2101
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Scaling skin, Palmoplantar keratoderma, Angular cheilitis, Hyperkeratosis	OMIM:616295
Congenital Disorder Of Glycosylation, Type Iq	Eczema, Cutis laxa, Ichthyosis, Hyperkeratosis	OMIM:612379
Night Blindness, Congenital Stationary, Type 1C	Dry skin	OMIM:613216
Dracunculiasis	Recurrent cutaneous abscess formation, Pruritus, Arthritis, Skin rash, Skin ulcer	ORPHA:231
Uv-Sensitive Syndrome 1	Dry skin	OMIM:600630
Palmoplantar Carcinoma, Multiple Self-Healing	Follicular hyperkeratosis, Palmoplantar keratoderma, Parakeratosis	OMIM:615225
Darier Disease	Pruritus, Thickened skin, Palmoplantar keratoderma, Subungual hyperkeratotic fragments, Acrokerat...	ORPHA:218
Immunodeficiency 17	Eczema, Recurrent otitis media, Decreased proportion of CD8-positive T cells, Autoimmune hemolyti...	OMIM:615607
Dermatofibrosarcoma Protuberans	Thickened skin, Erythema, Skin ulcer	ORPHA:31112
Epidermolytic Palmoplantar Keratoderma	Epidermal hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Palmar hyperkeratosis, Di...	ORPHA:2199
Sézary Syndrome	Dry skin, Pruritus, Palmoplantar keratoderma, Erythroderma	ORPHA:3162
Amyloidosis, Primary Localized Cutaneous, 1	Scaling skin, Dry skin, Cutis laxa	OMIM:105250
Leopard Syndrome 3	Epidermal hyperkeratosis, Webbed neck, Dry skin, Hyperkeratosis	OMIM:613707
Iga Pemphigus	Pustule, Acantholysis, Pruritus, Neutrophilic infiltration of the skin, Ulcerative colitis, Cutan...	ORPHA:555905
Lupus Erythematosus Tumidus	Deep dermal perivascular inflammatory infiltrate	ORPHA:90283
Lig4 Syndrome	Pancytopenia, Psoriasiform dermatitis, Thrombocytopenia	OMIM:606593
Prolidase Deficiency	Pruritus, Palmoplantar keratoderma, Erythema, Thin skin, Hyperkeratosis, Dry skin, Crusting eryth...	ORPHA:742
Aicardi-Goutieres Syndrome 5	Dry skin, Chilblains, Scaling skin	OMIM:612952
Acral Peeling Skin Syndrome	Eczema, Erythema, Ichthyosis, Scaling skin, Excessive wrinkling of palmar skin	ORPHA:263534
Irida Syndrome	Pallor, Ichthyosis, Hyperkeratosis	ORPHA:209981
Ige Responsiveness, Atopic	Eczema, Allergic rhinitis	OMIM:147050
Craniosynostosis-Mental Retardation-Clefting Syndrome	Dry skin	OMIM:218650
Autoinflammation With Arthritis And Dyskeratosis	Keratoconjunctivitis sicca, Punctate keratitis, Follicular hyperkeratosis, Uveitis, Thyroiditis, ...	OMIM:617388
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance	Dry skin, Eczema	OMIM:612947
Chromomycosis	Keratoconjunctivitis sicca, Hyperkeratotic papule, Pruritus, Hyperparakeratosis, Keratitis, Hyper...	ORPHA:182
Quinquaud Folliculitis Decalvans	Recurrent skin infections, Pustule	ORPHA:346
Angioma Serpiginosum, X-Linked	Hyperkeratosis	OMIM:300652
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Eczema, Tubulointerstitial nephritis, Neutropenia, Neutropenia in presence of anti-neutropil anti...	ORPHA:37042
Keratolytic Winter Erythema	Pustule	ORPHA:50943
Sapho Syndrome	Psoriasiform dermatitis, Inflammation of the large intestine, Pustule, Synovitis, Acne, Arthritis...	ORPHA:793
Immunodeficiency 11B With Atopic Dermatitis	Atopic dermatitis, Pneumonia	OMIM:617638
Ichthyosis, Congenital, Autosomal Recessive 7	Hypergranulosis, Palmoplantar keratoderma, Erythroderma, Ichthyosis	OMIM:615022
Dowling-Degos Disease	Hyperkeratotic papule, Pruritus, Acne inversa, Arthritis, Hyperkeratosis, Skin vesicle	ORPHA:79145
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Psoriasiform dermatitis, Hypoplasia of the thymus, Interface hepatitis, Autoimmune hemolytic anemia	OMIM:243150
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Dry skin, Follicular hyperkeratosis	ORPHA:486815
Netherton Syndrome	Eczema, Acanthosis nigricans, Erythroderma, Congenital nonbullous ichthyosiform erythroderma, Ski...	ORPHA:634
Dystrophic Epidermolysis Bullosa Pruriginosa	Pruritus, Hyperkeratosis	ORPHA:89843
Amelo-Onycho-Hypohidrotic Syndrome	Dry skin, Hyperkeratosis	ORPHA:1028
Trichothiodystrophy 7, Nonphotosensitive	Follicular hyperkeratosis, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:618546
Immunodeficiency 66	Recurrent skin infections, Pustule	OMIM:618847
Singleton-Merten Syndrome 2	Hyperkeratosis	OMIM:616298
Focal Palmoplantar And Gingival Keratoderma	Subungual hyperkeratosis, Circumungual hyperkeratosis, Palmoplantar keratoderma, Gingival hyperke...	ORPHA:2200
Erosive Pustular Dermatosis Of The Scalp	Pustule	ORPHA:222
Mitochondrial Complex I Deficiency, Nuclear Type 30	Neonatal death, Redundant skin	OMIM:301021
Wiskott-Aldrich Syndrome 2	Thrombocytopenia, Eczema, Decreased proportion of CD8-positive T cells	OMIM:614493
Ichthyosis Prematurity Syndrome	Allergic rhinitis, Erythroderma, Pruritus, Follicular hyperkeratosis, Generalized ichthyosis	OMIM:608649
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Dry skin, Acanthosis nigricans	OMIM:618527
Punctate Palmoplantar Keratoderma Type 1	Hyperkeratotic papule, Palmoplantar keratoderma, Hypergranulosis, Orthokeratosis, Palmoplantar hy...	ORPHA:79501
Riddle Syndrome	Dry skin	OMIM:611943
Immunodeficiency, Common Variable, 10	Psoriasiform dermatitis, Recurrent otitis media, Recurrent pneumonia, Recurrent sinusitis	OMIM:615577
Inflammatory Bowel Disease 28, Autosomal Recessive	Folliculitis, Pyoderma, Perianal abscess, Crohn's disease, Enterocolitis, Colitis	OMIM:613148
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Recurrent skin infections	OMIM:617744
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Atopic dermatitis, Psoriasiform dermatitis, Cholangitis, Allergic rhinitis, Pneumonia, Bronchiect...	ORPHA:183675
Ataxia-Photosensitivity-Short Stature Syndrome	Dry skin	ORPHA:1184
Ichthyosis, Congenital, Autosomal Recessive 2	Palmoplantar keratoderma, Erythema, Hypergranulosis, Congenital nonbullous ichthyosiform erythrod...	OMIM:242100
Familial Keratoacanthoma	Skin ulcer, Hyperkeratosis	ORPHA:493
Hypohidrotic Ectodermal Dysplasia	Sinusitis, Keratoconjunctivitis sicca, Eczema, Thin skin, Inflammatory abnormality of the eye, Hy...	ORPHA:238468
Porokeratosis	Pruritus, Hyperkeratosis	ORPHA:79358
Bullous Impetigo	Recurrent bacterial skin infections, Pustule, Septic arthritis	ORPHA:36237
Oral Erosive Lichen	Dry skin, Erythema	ORPHA:31142
Juvenile Arthritis	Thrombocytosis, Leukocytosis, Skin rash	OMIM:618795
Neonatal Inflammatory Skin And Bowel Disease	Psoriasiform dermatitis, Pustule, Chapped lip, Erythema, Recurrent bacterial skin infections, Sca...	ORPHA:294023
Psoriasis-Related Juvenile Idiopathic Arthritis	Psoriasiform dermatitis, Psoriasiform lesion, Pruritus, Oligoarthritis, Sacroiliac arthritis, Ant...	ORPHA:85436
Rothmund-Thomson Syndrome, Type 1	Recurrent otitis media, Hyperkeratosis	OMIM:618625
Moynahan Syndrome	Hyperkeratosis	ORPHA:2574
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive	Atopic dermatitis, Eczema, Bronchiectasis, Pruritus, Recurrent otitis media, Chronic mucocutaneou...	OMIM:618282
Chronic Recurrent Multifocal Osteomyelitis	Palmoplantar pustulosis, Osteomyelitis	OMIM:259680
Bone Marrow Failure Syndrome 4	Dry skin, Eczema	OMIM:618116
Proteasome-Associated Autoinflammatory Syndrome 5	Skin rash	OMIM:619175
Omenn Syndrome	Erythroderma, Pneumonia, Pruritus, Thickened skin, Thyroiditis, Dry skin	ORPHA:39041
Hereditary Sensory And Autonomic Neuropathy Type 1	Hyperkeratosis, Penetrating foot ulcers, Skin ulcer, Osteomyelitis	ORPHA:36386
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive	Atopic dermatitis, Decreased proportion of class-switched memory B cells, Recurrent otitis media,...	OMIM:618944
Immunodeficiency 48	Eczematoid dermatitis, Pneumonia	OMIM:269840
Palmoplantar Keratoderma And Congenital Alopecia 1	Epidermal hyperkeratosis, Palmoplantar erythema, Palmoplantar keratoderma, Plantar hyperkeratosis	OMIM:104100
Pressure-Induced Localized Lipoatrophy	Inflammatory abnormality of the skin	ORPHA:90160
Anhidrosis, Familial Generalized, With Abnormal Or Absent Sweat Glands	Dry skin, Palmoplantar hyperkeratosis	OMIM:206600
Harlequin Ichthyosis	Congenital ichthyosiform erythroderma, Erythroderma, Ichthyosis, Hyperkeratosis	ORPHA:457
Chronic Mucocutaneous Candidiasis	Cheilitis, Pruritus, Hepatitis, Erythema, Skin rash, Hyperkeratosis, Skin ulcer	ORPHA:1334
Lymphoproliferative Syndrome, X-Linked, 2	Inflammation of the large intestine, Folliculitis, Hepatitis, Acne, Splenomegaly, Aplastic anemia...	OMIM:300635
Darier-White Disease	Pruritus, Subungual hyperkeratotic fragments, Acantholysis, Acrokeratosis	OMIM:124200
Elastoderma	Eczema, Erysipelas, Cutis laxa, Premature skin wrinkling	ORPHA:228240
Pemphigus Vulgaris	Acantholysis, Recurrent cutaneous abscess formation	ORPHA:704
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Psoriasiform dermatitis, Bronchiectasis, Recurrent otitis media, Abnormal lymphocyte morphology, ...	ORPHA:293978
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Erythroderma, Keratitis, Follicular hyperkeratosis, Scaling skin, Dry skin	OMIM:308205
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Dry skin, Acanthosis nigricans	ORPHA:3085
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Streaks of hyperkeratosis along each fin...	OMIM:148700
Rhizomelic Chondrodysplasia Punctata	Dry skin, Ichthyosis	ORPHA:177
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Erythema, Congenital ichthyosiform erythroderma, Parakeratosis, Hyperkeratosis	OMIM:308050
Ectodermal Dysplasia/Short Stature Syndrome	Hyperkeratosis	OMIM:616029
Transgrediens Et Progrediens Palmoplantar Keratoderma	Thickened skin, Angular cheilitis, Recurrent cutaneous fungal infections, Recurrent bacterial ski...	ORPHA:495
Lipoid Proteinosis	Acne, Pustule, Thickened skin, Hyperkeratosis	ORPHA:530
Congenital Heart Defects And Ectodermal Dysplasia	Dry skin, Thin skin	OMIM:617364
Keratoderma Hereditarium Mutilans	Ichthyosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis	ORPHA:494
Growth Retardation, Small And Puffy Hands And Feet, And Eczema	Eczema	OMIM:233810
Popov-Chang syndrome	Dry skin, Recurrent otitis media, Hyperkeratosis	OMIM:618428
Chronic Actinic Dermatitis	Late onset atopic dermatitis, Eczema, Allergic rhinitis, Erythroderma, Pruritus	ORPHA:330064
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Sinusitis, B lymphocytopenia, Inflammatory abnormality of the skin, Recurrent otitis media, Recur...	ORPHA:277
Deafness, Neural, With Atypical Atopic Dermatitis	Late onset atopic dermatitis	OMIM:221700
Trichothiodystrophy 6, Nonphotosensitive	Dry skin, Ichthyosis	OMIM:616943
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome	Pustule, Myositis, Acne, Arthritis, Increased inflammatory response, Crohn's disease, Skin ulcer	ORPHA:69126
Immunodeficiency 81	Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs...	OMIM:619374
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Dry skin	ORPHA:248
Combined Immunodeficiency With Faciooculoskeletal Anomalies	Psoriasiform dermatitis, B lymphocytopenia, Recurrent aspiration pneumonia, Chronic oral candidia...	ORPHA:221139
Immunodeficiency 69	Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Skin rash, Pancytopenia	OMIM:618963
Ectodermal Dysplasia-Syndactyly Syndrome 2	Congenital bullous ichthyosiform erythroderma, Follicular hyperkeratosis, Palmoplantar keratoderma	OMIM:613576
Inflammatory Bowel Disease 25, Autosomal Recessive	Perianal abscess, Folliculitis, Enterocolitis	OMIM:612567
Spinocerebellar Ataxia Type 34	Dry skin	ORPHA:1955
Trichothiodystrophy 1, Photosensitive	Keratoconjunctivitis sicca, Erythroderma, Congenital nonbullous ichthyosiform erythroderma, Hyper...	OMIM:601675
Acrokeratosis Verruciformis Of Hopf	Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis	ORPHA:79151
Intermediate Uveitis	Optic neuritis, Psoriasiform dermatitis, Tubulointerstitial nephritis, Anterior uveitis	ORPHA:279914
Meige Disease	Recurrent bacterial skin infections, Cobblestone-like hyperkeratosis, Skin ulcer, Recurrent skin ...	ORPHA:90186
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Immunodeficiency 68	B lymphocytopenia, Lymphadenitis, Abscess, Septic arthritis, Recurrent skin infections, T lymphoc...	OMIM:612260
Absence Of Fingerprints-Congenital Milia Syndrome	Thickened skin, Skin rash, Thin skin	ORPHA:1658
Oculotrichodysplasia	Scaling skin, Dry skin	OMIM:257960
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	Eczema, Ichthyosis	ORPHA:3055
Flynn-Aird Syndrome	Hyperkeratosis	OMIM:136300
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease	Skin rash	OMIM:124950
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Cystic acne, Sterile arthritis, Thrombocytosis, Sterile abscess, Acne, Arthritis, Hepatosplenomeg...	OMIM:604416
Interstitial Granulomatous Dermatitis With Arthritis	Inflammatory abnormality of the skin, Pruritus, Rheumatoid arthritis	ORPHA:79099
Hypotrichosis And Recurrent Skin Vesicles	Follicular hyperkeratosis, Angular cheilitis, Skin vesicle	OMIM:613102
Immunodeficiency, Common Variable, 12, With Autoimmunity	Bronchiectasis, Pyoderma gangrenosum, Recurrent skin infections, Recurrent pneumonia, Recurrent s...	OMIM:616576
Immunodeficiency 57 With Autoinflammation	B lymphocytopenia, Inflammation of the large intestine, Bronchiectasis, Gastritis, Perianal absce...	OMIM:618108
Thyroid Dyshormonogenesis 1	Dry skin	OMIM:274400
Pellagra-Like Syndrome	Skin rash	OMIM:260650
Lymphatic Malformation 4	Hyperkeratosis	OMIM:615907
Xeroderma Pigmentosum Variant	Dry skin, Keratitis	ORPHA:90342
Dermoodontodysplasia	Dry skin, Thin skin	ORPHA:1660
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death	OMIM:226735
Noonan Syndrome 8	Webbed neck, Eczema, Palmoplantar cutis laxa, Hyperkeratosis	OMIM:615355
Combined Immunodeficiency Due To Dock8 Deficiency	Atopic dermatitis, Pneumonia, Chronic otitis media, Skin ulcer, Recurrent bacterial skin infectio...	ORPHA:217390
H Syndrome	Psoriasiform dermatitis, Bronchiectasis, Chronic rhinitis, Ichthyosis, Scleroderma	ORPHA:168569
Congenital Disorder Of Glycosylation, Type Iil	Dry skin, Inflammation of the large intestine, Hyperkeratosis	OMIM:614576
Hemihyperplasia-Multiple Lipomatosis Syndrome	Seborrheic dermatitis, Hyperparakeratosis	ORPHA:276280
Porphyria Cutanea Tarda, Type I	Eczema	OMIM:176090
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Eczema, Leukopenia, Monocytosis, Refractory anemia, Acute myeloid leukemia	OMIM:616871
Panniculitis-Induced Localized Lipodystrophy	Inflammatory abnormality of the skin, Erythema	ORPHA:90159
Naegeli-Franceschetti-Jadassohn Syndrome	Dry skin, Punctate palmoplantar hyperkeratosis, Palmoplantar hyperkeratosis, Subungual hyperkerat...	ORPHA:69087
Ameloonychohypohidrotic Syndrome	Seborrheic dermatitis, Dry skin	OMIM:104570
Isolated Agammaglobulinemia	Sinusitis, Pneumonia, Recurrent cutaneous abscess formation, Arthritis, Otitis media, Inflammator...	ORPHA:229717
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Dry skin, Acanthosis nigricans	OMIM:268020
Generalized Eruptive Histiocytosis	Leukemia, Pruritus, Hypereosinophilia, Maculopapular exanthema, Histiocytosis	ORPHA:157991
Granulomatous Disease, Chronic, Autosomal Recessive, 3	Recurrent aphthous stomatitis, Colitis, Recurrent sinusitis, Perioral eczema	OMIM:613960
Spinocerebellar Ataxia Type 42	Psoriasiform dermatitis	ORPHA:458803
Peroxisome Biogenesis Disorder 14B	Dry skin	OMIM:614920
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Dry skin	OMIM:618535
Pemphigus Erythematosus	Malar rash, Acantholysis	ORPHA:79480
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Folliculitis, Palmoplantar keratoderma, Keratitis, Facial erythema, Blepharitis, Conjunctivitis	OMIM:612843
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Crusting erythematous dermatitis, Palmoplantar keratosis with erythema and scale, Erythema, Thin ...	ORPHA:158673
Familial Melanoma	Dry skin	ORPHA:618
Ichthyosis, Congenital, Autosomal Recessive 11	Blepharitis, Congenital ichthyosiform erythroderma, Hyperkeratosis	OMIM:602400
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Dry skin	OMIM:129490
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Hyperkeratotic papule, Pruritus, Skin vesicle	ORPHA:79410
Mednik Syndrome	Ichthyosis, Hyperkeratosis	ORPHA:171851
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Dry skin, Acanthosis nigricans	OMIM:262190
Hypothyroidism, Congenital, Nongoitrous, 6	Dry skin	OMIM:614450
Trichodysplasia-Xeroderma Syndrome	Dry skin	ORPHA:3361
Chilblain Lupus 1	Skin ulcer	OMIM:610448
Necrobiosis Lipoidica	Inflammatory abnormality of the skin, Erythema, Skin ulcer	ORPHA:542592
Hernia, Anterior Diaphragmatic	Neonatal death	OMIM:306950
Milroy Disease	Erysipelas, Hyperkeratosis	ORPHA:79452
Proteus Syndrome	Hyperkeratosis	OMIM:176920
Reticular Dysgenesis	Chronic otitis media, Skin ulcer, Skin rash	ORPHA:33355
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hyperkeratosis	OMIM:145250
Pachyonychia Congenita 1	Follicular hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:167200
Myxedema	Dry skin	OMIM:255900
Autoinflammatory Syndrome, Familial, Behcet-Like	Hemolytic anemia, Anterior uveitis, Lymphopenia, Skin rash, Thrombocytopenia, Colitis	OMIM:616744
Reynolds Syndrome	Keratoconjunctivitis sicca, Infectious encephalitis, Pruritus, Arthritis, Sclerodactyly, Skin ras...	ORPHA:779
Uremic Pruritus	Inflammatory abnormality of the skin, Pruritus, Recurrent skin infections, Dry skin	ORPHA:94059
Congenital Non-Bullous Ichthyosiform Erythroderma	Erythroderma, Pruritus, Palmoplantar keratoderma, Keratitis, Ichthyosis	ORPHA:79394
Proliferating Trichilemmal Cyst	Skin ulcer	ORPHA:492
Immunodeficiency 13	B lymphocytopenia, Bronchiectasis, Recurrent otitis media, Recurrent pneumonia, Decreased proport...	OMIM:615518
Pyoderma Gangrenosum	Inflammation of the large intestine, Pustule, Myositis, Rheumatoid arthritis, Skin ulcer, Skin ve...	ORPHA:48104
Familial Cold Autoinflammatory Syndrome 2	Leukocytosis, Arthritis, Splenomegaly, Skin rash, Recurrent aphthous stomatitis, Erythema nodosum	OMIM:611762
Leopard Syndrome 2	Dry skin, Webbed neck	OMIM:611554
Cortisone Reductase Deficiency 1	Acne	OMIM:604931
Immunodeficiency 31C	Eczema, Lymphopenia, Chronic mucocutaneous candidiasis, Autoimmune hemolytic anemia	OMIM:614162
Erythroderma, Lethal Congenital	Congenital exfoliative erythroderma	OMIM:227090
Zinc Deficiency, Transient Neonatal	Eczema	OMIM:608118
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Foot osteomyelitis, Skin ulcer, Acral ulceration	ORPHA:139578
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Thrombocytosis, Eczema, Macrocytic anemia, Megaloblastic anemia, Septic arthritis, Recurrent pneu...	OMIM:617780
Adiposis Dolorosa	Dry skin, Recurrent skin infections, Arthritis	ORPHA:36397
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Follicular hyperkeratosis	ORPHA:300179
Cutaneous Small Vessel Vasculitis	Purpura, Recurrent skin infections, Skin rash, Erythema	ORPHA:889
Ramon Syndrome	Hyperkeratosis	ORPHA:3019
Majeed Syndrome	Inflammatory abnormality of the skin, Erythroid hyperplasia, Osteomyelitis, Hepatosplenomegaly, M...	OMIM:609628
Pachyonychia Congenita 3	Chapped lip, Palmoplantar keratoderma, Palmar hyperkeratosis, Hyperkeratosis, Plantar hyperkeratosis	OMIM:615726
Laryngoonychocutaneous Syndrome	Skin ulcer	OMIM:245660
Beta-Mercaptolactate Cysteine Disulfiduria	Dry skin	ORPHA:1035
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Pneumonia, Chronic oral candidiasis, ...	OMIM:300400
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive	Atopic dermatitis, Eczema, Eosinophilia	OMIM:243700
Ectodermal Dysplasia-Blindness Syndrome	Keratoconjunctivitis sicca, Skin ulcer, Hyperkeratosis	ORPHA:1806
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Hyperkeratotic papule, Plantar hyperkeratosis, Palmar hyperkeratosis	ORPHA:79397
Bullous Diffuse Cutaneous Mastocytosis	Pruritus, Erythroderma	ORPHA:280785
Arthrogryposis And Ectodermal Dysplasia	Dry skin, Hyperkeratosis	OMIM:601701
Pachyonychia Congenita 2	Folliculitis, Palmoplantar hyperkeratosis, Subungual hyperkeratosis	OMIM:167210
Microcephalic Primordial Dwarfism, Montreal Type	Dry skin	ORPHA:2617
Igg4-Related Retroperitoneal Fibrosis	Psoriasiform dermatitis, Deep dermal perivascular inflammatory infiltrate, Normocytic anemia, Mem...	ORPHA:49041
Xfe Progeroid Syndrome	Dry skin	OMIM:610965
Hemophagocytic Lymphohistiocytosis, Familial, 4	Neutropenia, Anemia, Splenomegaly, Skin rash, Thrombocytopenia, Hemophagocytosis, Conjunctivitis	OMIM:603552
Hypotrichosis With Juvenile Macular Degeneration	Hyperkeratosis	ORPHA:1573
9P13 Microdeletion Syndrome	Dry skin, Recurrent otitis media	ORPHA:324313
Acrodermatitis Enteropathica	Pustule, Cheilitis, Erythema, Dry skin, Blepharitis, Skin ulcer, Conjunctivitis	ORPHA:37
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Bronchiectasis, Chronic oral candidiasis,...	OMIM:150550
Aicardi-Goutieres Syndrome 3	Chilblains, Hepatosplenomegaly, Thrombocytopenia	OMIM:610329
Combined Immunodeficiency-Enteropathy Spectrum	Psoriasiform dermatitis, Thickened skin, Hepatitis, Hashimoto thyroiditis	ORPHA:436252
Immunodeficiency 85 And Autoimmunity	Eczema, Erythroderma, Oligoarthritis, Reduced natural killer cell count, Decreased proportion of ...	OMIM:619510
Cardiofaciocutaneous Syndrome 3	Webbed neck, Hyperkeratosis	OMIM:615279
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Eczema, Superficial dermal perivascular inflammatory infiltrate, Seborrheic dermatitis, Pruritus,...	ORPHA:83617
Limb-Mammary Syndrome	Chronic irritative conjunctivitis, Psoriasiform dermatitis, Dry skin, Blepharitis	ORPHA:69085
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Thickened skin, Palmoplantar keratoderma, Skin ulcer, Erythema	ORPHA:659
Refsum Disease	Dry skin, Ichthyosis	ORPHA:773
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome	Hyperkeratotic papule, Palmoplantar keratoderma, Palmoplantar hyperkeratosis	ORPHA:2698
Indolent Systemic Mastocytosis	Pruritus, Abnormal mast cell morphology, Splenomegaly, Skin rash, Maculopapular exanthema, Increa...	ORPHA:98848
Syndromic Recessive X-Linked Ichthyosis	Ichthyosis, Hyperkeratosis	ORPHA:281090
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis	Pustule, Stomatitis, Osteomyelitis, Skin rash, Hyperkeratosis	OMIM:612852
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Dry skin	ORPHA:95715
Complex Regional Pain Syndrome	Dry skin, Erythema	ORPHA:83452
Hidrotic Ectodermal Dysplasia	Hyperkeratotic papule, Thickened skin, Palmoplantar keratoderma, Cobblestone-like hyperkeratosis,...	ORPHA:189
Kanzaki Disease	Dry skin, Hyperkeratosis	OMIM:609242
Corneodermatoosseous Syndrome	Erythroderma, Palmoplantar hyperkeratosis	OMIM:122440
Erythroderma Desquamativum	Seborrheic dermatitis	ORPHA:314
Erythema Elevatum Diutinum	Skin rash, Skin vesicle	ORPHA:90000
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased proportion of naive T cells, Pneumonia, Chronic oral candidiasis, Chronic mucocutaneous...	ORPHA:276
Dermatoosteolysis, Kirghizian Type	Skin ulcer, Keratitis	OMIM:221810
Methylmalonic Acidemia With Homocystinuria	Skin rash	ORPHA:26
Combined Immunodeficiency Due To Zap70 Deficiency	Pneumonia, Stomatitis, Lymphadenitis, Chronic oral candidiasis, Chronic mucocutaneous candidiasis...	ORPHA:911
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Palmoplantar keratoderma, Sclerodactyly, Scaling skin, Facial erythema, Dry skin	ORPHA:1010
Jung Syndrome	Dry skin	ORPHA:2321
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Follicular hyperkeratosis	OMIM:277350
Schnitzler Syndrome	Leukocytosis, Pruritus, Anemia, Arthritis, Splenomegaly, Skin rash	ORPHA:37748
Immunodeficiency 58	Eczema, Allergic rhinitis, Psoriasiform lesion, Recurrent cutaneous abscess formation, Seborrheic...	OMIM:618131
X-Linked Agammaglobulinemia	Sinusitis, Recurrent cutaneous abscess formation, Chronic otitis media, Hepatitis, Arthritis, Ost...	ORPHA:47
Ddost-Cdg	Dry skin	ORPHA:300536
Rare Cutaneous Lupus Erythematosus	Deep dermal perivascular inflammatory infiltrate, Pustule, Superficial dermal perivascular inflam...	ORPHA:535
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Sinusitis, Atopic dermatitis, B lymphocytopenia, Rhinitis, Otitis media, Decreased proportion of ...	ORPHA:70593
Acrogeria	Excessive wrinkled skin, Skin ulcer, Thin skin	ORPHA:2500
Familial Cold Autoinflammatory Syndrome 1	Leukocytosis, Arthritis, Uveitis, Skin rash, Conjunctivitis	OMIM:120100
Neutropenia, Lethal Congenital, With Eosinophilia	Neonatal death	OMIM:257100
Systemic Lupus Erythematosus	Lupus nephritis, Pericarditis, Leukopenia, Nephritis, Arthritis, Malar rash, Thrombocytopenia, He...	OMIM:152700
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Hyperkeratosis	ORPHA:1883
Neutrophilic Dermatosis, Acute Febrile	Cystic acne, Pyoderma gangrenosum, Panniculitis, Acne inversa, Erythema	OMIM:608068
Cardiofaciocutaneous Syndrome	Excessive wrinkled skin, Webbed neck, Palmoplantar keratoderma, Ichthyosis, Hyperkeratosis, Dry s...	ORPHA:1340
Warty Dyskeratoma	Epidermal thickening, Acrokeratosis, Acantholysis	ORPHA:69745
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Skin ulcer, Purpura, Thin skin	ORPHA:743
Pilodental Dysplasia With Refractive Errors	Follicular hyperkeratosis	OMIM:262020
Skin Fragility-Woolly Hair Syndrome	Palmoplantar keratosis with erythema and scale, Acantholysis	OMIM:607655
Idiopathic Trachyonychia	Atopic dermatitis, Ichthyosis, Circumungual hyperkeratosis	ORPHA:79153
Spinocerebellar Ataxia 34	Hyperkeratosis	OMIM:133190
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Erythroderma, Pneumonia, Chronic oral candidiasis, Hepatitis, Decreased proportion of CD3-positiv...	ORPHA:169160
Cutaneous Collagenous Vasculopathy	Pruritus, Erythema, Skin rash, Petechiae	ORPHA:280779
Monilethrix	Follicular hyperkeratosis	ORPHA:573
Trichothiodystrophy 3, Photosensitive	Congenital nonbullous ichthyosiform erythroderma, Erythroderma, Ichthyosis	OMIM:616395
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hyperkeratosis	ORPHA:79279
Epidermodysplasia Verruciformis	Seborrheic dermatitis, Recurrent skin infections, Pustule	ORPHA:302
Blau Syndrome	Abnormal inflammatory response, Pericarditis, Synovitis, Posterior uveitis, Retrobulbar optic neu...	ORPHA:90340
T-Cell Immunodeficiency With Thymic Aplasia	Abnormal T cell morphology, Eczematoid dermatitis, Pyoderma, Bronchiectasis, Aplasia of the thymu...	OMIM:242700
Juvenile Dermatomyositis	Pericarditis, Myositis, Pruritus, Erythema, Arthritis, Skin rash, Dry skin, Skin ulcer	ORPHA:93672
Bare Lymphocyte Syndrome, Type I	Chronic otitis media, Chronic sinusitis, Skin ulcer, Bronchiectasis	OMIM:604571
Idiopathic Non-Lupus Full-House Nephropathy	Synovitis, Arthritis, Serositis, Skin rash, Glomerulonephritis	ORPHA:567544
Centrifugal Lipodystrophy	Inflammatory abnormality of the skin, Lymphadenitis, Erythema, Scaling skin	ORPHA:90156
Inflammatory Skin And Bowel Disease, Neonatal, 2	Recurrent pneumonia, Pustule	OMIM:616069
Xeroderma Pigmentosum	Thickened skin, Erythema, Thin skin, Keratitis, Hyperkeratosis, Dry skin, Blepharitis	ORPHA:910
Hydroxykynureninuria	Dry skin, Stomatitis	ORPHA:79155
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Chronic oral candidiasis, Decreased proportion of CD3-positive T cells, Otitis media, Juvenile rh...	ORPHA:275
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Pruritus, Cheilitis, Palmoplantar keratoderma, Follicular hyperkeratosis, Recurrent ...	ORPHA:158668
Linear Verrucous Nevus Syndrome	Hyperkeratosis	ORPHA:2611
Buerger Disease	Skin ulcer	ORPHA:36258
Protoporphyria, Erythropoietic, 1	Pruritus, Eczema	OMIM:177000
Noonan Syndrome 5	Dry skin, Webbed neck	OMIM:611553
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Eczema	OMIM:615895
Estrogen Resistance	Acanthosis nigricans, Acne	OMIM:615363
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant	Eczematoid dermatitis, Erythema, Chronic mucocutaneous candidiasis, Recurrent pneumonia, Skin rash	OMIM:147060
Van Den Bosch Syndrome	Acrokeratosis, Recurrent skin infections	ORPHA:3417
Tularemia	Brain abscess, Leukocytosis, Pneumonia, Anemia, Otitis media, Inflammatory abnormality of the eye...	ORPHA:3392
Distal Trisomy 6P	Dry skin	ORPHA:1745
Immunodeficiency 70	B lymphocytopenia, Furuncle, Decreased proportion of CD4-positive helper T cells, Colitis, Recurr...	OMIM:618969
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Eczema, Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive...	OMIM:617241
Monilethrix	Perifollicular hyperkeratosis	OMIM:158000
Immunodeficiency By Defective Expression Of Mhc Class Ii	Sinusitis, Abnormal CD4:CD8 ratio, Neutropenia, Neutropenia in presence of anti-neutropil antibod...	ORPHA:572
Caspase 8 Deficiency	Decreased CD4:CD8 ratio, Eczema, Pneumonia, Splenomegaly	OMIM:607271
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Dry skin	OMIM:300860
Noonan Syndrome 13	Dry skin, Webbed neck, Recurrent otitis media	OMIM:619087
Aplasia Cutis Congenita	Skin ulcer	ORPHA:1114
Mycetoma	Recurrent bacterial skin infections, Cobblestone-like hyperkeratosis, Osteomyelitis	ORPHA:2583
Cinca Syndrome	Leukocytosis, Anemia, Arthritis, Hepatosplenomegaly, Uveitis, Skin rash, Eosinophilia	OMIM:607115
Tangier Disease	Dry skin	OMIM:205400
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	Dry skin	OMIM:614940
Hereditary Mucoepithelial Dysplasia	Hyperkeratosis	ORPHA:1839
Costello Syndrome	Lack of skin elasticity, Acanthosis nigricans, Redundant skin, Hyperkeratosis	ORPHA:3071
Autosomal Dominant Hyper-Ige Syndrome	Eczema, Chronic otitis media, Pruritus, Osteomyelitis, Skin rash, Skin ulcer, Skin vesicle	ORPHA:2314
Autosomal Dominant Severe Congenital Neutropenia	Acute lymphoblastic leukemia, Eosinophilia, Neutropenia, Pneumonia, Monocytosis, Rhinitis, Leukem...	ORPHA:486
Coffin-Siris Syndrome 8	Eczema	OMIM:618362
Spontaneous Periodic Hypothermia	Pallor, Skin rash	ORPHA:29822
Dermatitis Herpetiformis	Pruritus, Eczema, Erythema, Skin vesicle	ORPHA:1656
Autosomal Erythropoietic Protoporphyria	Pruritus, Eczema, Erythema	ORPHA:79278
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Dry skin	ORPHA:226313
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Eczematoid dermatitis, Seborrheic dermatitis, Erythema, Arthritis, Redundant skin, Palmoplantar h...	OMIM:259100
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Erythroderma, Neutropenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Lymp...	ORPHA:169154
Calciphylaxis	Abnormality of skin physiology, Skin ulcer	ORPHA:280062
Eec Syndrome	Keratitis, Inflammatory abnormality of the eye, Hyperkeratosis, Dry skin, Blepharitis	ORPHA:1896
Prolidase Deficiency	Eczema, Petechiae, Recurrent pneumonia, Crusting erythematous dermatitis, Skin ulcer	OMIM:170100
Microscopic Polyangiitis	Sinusitis, Pericarditis, Episcleritis, Peritonitis, Erythema, Arthritis, Pancreatitis, Increased ...	ORPHA:727
Adult Syndrome	Dry skin, Eczema, Thin skin, Conjunctivitis	OMIM:103285
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Eczema, Lymphadenitis, Abscess, Splenomegaly, Crohn's disease, Perianal abscess, Hepatosplenomega...	OMIM:618935
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive	Eczema, Bronchiectasis, Recurrent otitis media, Keratitis, Eosinophilia	OMIM:618523
Reactive Arthritis	Inflammation of the large intestine, Pericarditis, Pustule, Arthritis, Osteomyelitis, Hyperkerato...	ORPHA:29207
Pgm3-Cdg	Eczema, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Chronic otitis media, ...	ORPHA:443811
Juvenile Hyaline Fibromatosis	Skin ulcer	ORPHA:2028
Tooth Agenesis, Selective, 4	Dry skin	OMIM:150400
Pseudopelade Of Brocq	Cheilitis, Recurrent skin infections	ORPHA:129
Candidiasis, Familial, 8	Seborrheic dermatitis, Blepharitis	OMIM:615527
Atopic Keratoconjunctivitis	Keratoconjunctivitis sicca, Dry skin, Blepharitis, Keratitis	ORPHA:163934
Inflammatory Skin And Bowel Disease, Neonatal, 1	Erythroderma, Pustule, Perianal erythema, Perioral erythema, Blepharitis	OMIM:614328
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome	Skin ulcer, Osteomyelitis	ORPHA:2218
Cyclic Neutropenia	Sinusitis, Peritonitis, Periodontitis, Perianal abscess, Otitis media, Recurrent skin infections,...	ORPHA:2686
Majeed Syndrome	Inflammatory abnormality of the skin, Abnormal inflammatory response, Leukocytosis, Pustule, Syno...	ORPHA:77297
Hidrotic Ectodermal Dysplasia, Halal Type	Follicular hyperkeratosis	ORPHA:1809
Tyrosinemia Type 2	Palmoplantar keratoderma, Hyperkeratosis	ORPHA:28378
Alopecia-Intellectual Disability Syndrome 4	Erythroderma, Ichthyosis	OMIM:618840
Autosomal Agammaglobulinemia	Sinusitis, Neutropenia, Bronchiectasis, Chronic otitis media, Hepatitis, Arthritis, Osteomyelitis...	ORPHA:33110
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Hyperkeratosis, Colitis, Recurrent pneumonia, Bronchiectasis	OMIM:301220
Squalene Synthase Deficiency	Dry skin	OMIM:618156
Aicardi-Goutieres Syndrome 9	Dry skin, Chilblains, Pericarditis, Acute pancreatitis	OMIM:619487
Pachyonychia Congenita	Linear arrays of macular hyperkeratoses in flexural areas, Palmoplantar keratoderma, Angular chei...	ORPHA:2309
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Keratoconjunctivitis sicca, Recurrent bacterial skin infections, Ichthyosis, Hyperkeratosis	OMIM:148210
Yao Syndrome	Keratoconjunctivitis sicca, Inflammatory abnormality of the skin, Pericarditis, Arthritis, Skin rash	OMIM:617321
Mpdu1-Cdg	Scaling skin, Eczema, Ichthyosis	ORPHA:79323
Vexas Syndrome	Inflammatory abnormality of the skin, Macrocytic anemia, Nasal chondritis, Chondritis of pinna, N...	OMIM:301054
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Eczema, Thyroiditis	OMIM:618985
19Q13.11 Microdeletion Syndrome	Dry skin, Thin skin	ORPHA:217346
Radio-Tartaglia Syndrome	Dry skin, Striae distensae	OMIM:619312
Koolen-De Vries Syndrome	Dry skin, Ichthyosis	ORPHA:96169
Hereditary Acrokeratotic Poikiloderma	Eczema, Pustule, Erythema, Thin skin, Ichthyosis, Keratoconjunctivitis, Palmoplantar hyperkeratos...	ORPHA:2907
Proteasome-Associated Autoinflammatory Syndrome 2	Thrombocytopenia, Skin rash	OMIM:618048
Premature Aging Syndrome, Penttinen Type	Hyperkeratosis	OMIM:601812
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Dry skin, Skin rash	ORPHA:220295
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Eczema, Thin skin	ORPHA:1810
Drug Reaction With Eosinophilia And Systemic Symptoms	Myocarditis, Infectious encephalitis, Erythroderma, Tubulointerstitial nephritis, Pustule, Inters...	ORPHA:139402
Agel Amyloidosis	Keratoconjunctivitis sicca, Pruritus, Dry skin, Cutis laxa	ORPHA:85448
Trichothiodystrophy	Keratoconjunctivitis sicca, Eczema, Ichthyosis, Dry skin, Congenital exfoliative erythroderma, Co...	ORPHA:33364
Papillon-Lefèvre Syndrome	Pustule, Chronic furunculosis, Recurrent cutaneous abscess formation, Palmoplantar keratoderma, P...	ORPHA:678
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	B lymphocytopenia, Neutropenia, Leukopenia, Bronchiectasis, Lymphadenitis, Recurrent otitis media...	OMIM:618986
Leukocyte Adhesion Deficiency, Type Iii

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