Gene: Flg MGI:95553

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

filaggrin

Synonyms:

fillagrin, ft, profilaggrin

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 Flg 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 Flg (1 diseases)
Human diseases predicted to be associated with Flg (1137 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Ichthyosis Vulgaris		Dry skin, Eczematoid dermatitis, Ichthyosis, Absent keratohyalin granules	OMIM:146700

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

Disease	Matching phenotypes	Source
Acne Inversa, Familial, 3	Perifolliculitis, Acne inversa, Chronic furunculosis, Recurrent cutaneous abscess formation	OMIM:613737
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
Ichthyosis, Lamellar, Autosomal Dominant	Pruritus, Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis	OMIM:146750
Peeling Skin Syndrome 6	Pruritus, Orthokeratosis, Parakeratosis	OMIM:618084
Palmoplantar Keratoderma, Norrbotten Recessive Type	Recurrent cutaneous fungal infections, Palmoplantar keratoderma, Hyperkeratosis	OMIM:244850
Keratosis, Focal Palmoplantar And Gingival	Circumungual hyperkeratosis, Focal friction-related palmoplantar hyperkeratosis, Gingival hyperke...	OMIM:148730
Vohwinkel Syndrome, Variant Form	Hypergranulosis, Orthokeratosis, Hyperkeratosis, Parakeratosis	OMIM:604117
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema	ORPHA:86923
Acne Inversa, Familial, 1	Acne inversa	OMIM:142690
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2	Palmoplantar keratoderma, Hyperkeratosis	OMIM:616400
Palmoplantar Keratoderma, Punctate Type Iii	Acrokeratosis, Hyperkeratosis	OMIM:101850
Sjogren-Larsson-Like Ichthyosis Without Cns Or Eye Involvement	Congenital ichthyosiform erythroderma, Hyperkeratosis	OMIM:270220
Dermatoleukodystrophy	Thickened skin, Hyperkeratosis	ORPHA:1659
Keratosis Linearis-Ichthyosis Congenita-Sclerosing Keratoderma Syndrome	Palmoplantar keratoderma, Ichthyosis	ORPHA:281201
Palmoplantar Keratoderma, Punctate Type Ii	Spinous keratoses of palms and soles, Porokeratosis	OMIM:175860
Ichthyosis, Congenital, Autosomal Recessive 14	Orthokeratotic hyperkeratosis, Pruritus, Erythema, Hyperkeratosis, Scaling skin	OMIM:617571
Palmoplantar Keratoderma, Punctate Type Ia	Hypergranulosis, Punctate palmoplantar hyperkeratosis, Orthokeratosis	OMIM:148600
Ichthyosis, Congenital, Autosomal Recessive 13	Hypergranulosis, Palmoplantar hyperkeratosis, Hyperkeratosis	OMIM:617574
Ichthyosis, Congenital, Autosomal Recessive 5	Erythroderma, Palmoplantar keratoderma, Parakeratosis, Congenital nonbullous ichthyosiform erythr...	OMIM:604777
Hypotrichosis Simplex Of The Scalp	Fine hair, Atopic dermatitis, Alopecia of scalp, Pruritus, Parakeratosis, Slow-growing scalp hair...	ORPHA:90368
Ichthyosis, Congenital, Autosomal Recessive 8	Hypergranulosis, Orthokeratosis, Ichthyosis, Hyperkeratosis, Congenital ichthyosiform erythroderma	OMIM:613943
Porokeratosis Of Mibelli	Pruritus, Porokeratosis, Hyperkeratosis	ORPHA:735
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Palmoplantar keratoderma, Parakeratosis, Hypergranulosis, Orthokeratosis	OMIM:173200
Erythrokeratodermia Variabilis Et Progressiva 5	Palmoplantar hyperkeratosis, Hyperkeratosis	OMIM:617756
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	OMIM:144150
Palmoplantar Keratoderma, Epidermolytic	Localized epidermolytic hyperkeratosis, Increased circulating IgE level, Palmar hyperkeratosis, P...	OMIM:144200
Angioma Serpiginosum, Autosomal Dominant	Hyperkeratosis	OMIM:106050
Reticulate Acropigmentation Of Kitamura	Hyperkeratosis	OMIM:615537
Papillomatosis, Confluent And Reticulated	Hyperkeratosis	OMIM:167900
Epidermolytic Hyperkeratosis	Erythroderma, Congenital bullous ichthyosiform erythroderma, Scaling skin, Palmoplantar hyperkera...	OMIM:113800
Cole Disease	Hypergranulosis, Palmoplantar keratoderma, Hyperkeratosis	OMIM:615522
Familial Reactive Perforating Collagenosis	Hyperkeratotic papule, Inflammatory abnormality of the skin, Pruritus, Perifolliculitis, Abnormal...	ORPHA:79147
Psoriasis 2	Psoriasiform dermatitis, Parakeratosis, Hyperkeratosis, Scaling skin, Epidermal acanthosis	OMIM:602723
Verrucous Hemangioma	Hyperkeratotic papule, Inflammatory abnormality of the skin, Epidermal acanthosis	ORPHA:464318
Dermatitis Herpetiformis, Familial	Pruritus	OMIM:601230
Pruritus, Hereditary Localized	Pruritus	OMIM:177100
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa, Foll...	OMIM:613736
Palmoplantar Keratoderma-Deafness Syndrome	Palmoplantar keratoderma, Hyperkeratosis	ORPHA:2202
Mental Retardation, Fra12A Type	Hyperkeratosis	OMIM:136630
Dissecting Cellulitis Of The Scalp	Pruritus, Edema, Recurrent skin infections	ORPHA:345
Porokeratosis Plantaris Palmaris Et Disseminata	Hyperkeratotic papule, Pruritus, Palmoplantar hyperkeratosis, Porokeratosis	ORPHA:737
Epidermolysis Bullosa Simplex 1C, Localized	Hyperkeratosis	OMIM:131800
Krt1-Related Diffuse Nonepidermolytic Keratoderma	Atopic dermatitis, Dry skin, Erythema, Scaling skin, Nonepidermolytic palmoplantar hyperkeratosis...	ORPHA:530838
Peeling Skin Syndrome 1	Onycholysis, Pruritus, Brittle hair, Erythema, Abnormality of hair texture, Increased circulating...	OMIM:270300
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Psoriasiform dermatitis, Erythroderma, Acantholysis, Palmoplantar keratoderma, Hypergranulosis, R...	OMIM:615508
Benign Cephalic Histiocytosis	Inflammatory abnormality of the skin, Skin rash	ORPHA:157997
Ichthyosis, Congenital, Autosomal Recessive 6	Erythroderma, Palmoplantar keratoderma, Parakeratosis, Congenital nonbullous ichthyosiform erythr...	OMIM:612281
Ichthyosis Hystrix Of Curth-Macklin	Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Ichthyosis, Hyperkeratosis	ORPHA:79503
Keratoderma Hereditarium Mutilans With Ichthyosis	Palmoplantar keratoderma, Parakeratosis, Hypergranulosis, Congenital nonbullous ichthyosiform ery...	ORPHA:79395
Immunodeficiency 51	Eczema, Folliculitis, Pustule, Chronic furunculosis, Pneumonia, Chronic oral candidiasis, Recurre...	OMIM:613953
Erythrokeratodermia Variabilis Et Progressiva 1	Patchy palmoplantar hyperkeratosis, Erythroderma, Hypergranulosis, Generalized hyperkeratosis, Ep...	OMIM:133200
Peeling Skin Syndrome 4	Orthokeratosis, Palmoplantar keratoderma, Ichthyosis, Hyperkeratosis	OMIM:607936
Acrokeratosis Verruciformis	Acrokeratosis, Epidermal acanthosis, Hyperkeratosis	OMIM:101900
Epidermolysis Bullosa Dystrophica, Pretibial	Pruritus, Hyperkeratosis	OMIM:131850
Erythrokeratodermia Variabilis Et Progressiva 6	Pruritus, Superficial dermal perivascular inflammatory infiltrate, Parakeratosis	OMIM:618531
Ichthyosis Vulgaris	Dry skin, Eczematoid dermatitis, Ichthyosis, Absent keratohyalin granules	OMIM:146700
Ichthyosis, Congenital, Autosomal Recessive 10	Hypergranulosis, Palmoplantar keratoderma, Erythroderma, Congenital ichthyosiform erythroderma	OMIM:615024
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive	Atopic dermatitis, Increased circulating interleukin 6, Decreased circulating IgG level, Increase...	OMIM:618944
Aquagenic Palmoplantar Keratoderma	Atopic dermatitis, Orthokeratotic hyperkeratosis, Edema, Palmoplantar keratoderma, Palmar pruritu...	ORPHA:498359
Ichthyosis, Congenital, Autosomal Recessive 7	Erythroderma, Palmoplantar keratoderma, Hypergranulosis, Ichthyosis, Epidermal acanthosis	OMIM:615022
Dowling-Degos Disease 2	Hyperkeratotic papule, Follicular hyperkeratosis	OMIM:615327
Dystrophic Epidermolysis Bullosa Pruriginosa	Pruritus, Nail dystrophy, Increased circulating IgE level, Abnormal toenail morphology, Hyperkera...	ORPHA:89843
Acquired Ichthyosis	Pruritus, Palmoplantar keratoderma, Erythema, Recurrent skin infections, Ichthyosis, Hyperkeratos...	ORPHA:454
Palmoplantar Keratoderma, Nagashima Type	Hypergranulosis, Orthokeratotic hyperkeratosis, Epidermal acanthosis	OMIM:615598
Peeling Skin Syndrome 5	Hyperkeratosis	OMIM:617115
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Epidermal acanthosis, Hyperkeratosis	OMIM:615028
Bazex Syndrome	Acanthosis nigricans, Pruritus, Edema, Palmoplantar keratoderma, Parakeratosis, Hyperkeratosis, S...	ORPHA:166113
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Orthokeratosis, Acne inversa, Hyperkeratosis	OMIM:617337
Erythrokeratodermia Variabilis Et Progressiva 3	Erythema, Palmoplantar keratoderma, Hypergranulosis, Hyperkeratosis, Epidermal acanthosis	OMIM:617525
Autosomal Dominant Epidermolytic Ichthyosis	Erythroderma, Palmoplantar keratoderma, Ichthyosis, Hyperkeratosis, Congenital bullous ichthyosif...	ORPHA:312
Seborrhea-Like Dermatitis With Psoriasiform Elements	Seborrheic dermatitis, Hyperkeratosis	OMIM:610227
Paget Disease, Extramammary	Eczematoid dermatitis	OMIM:167300
Acrokeratoelastoidosis Of Costa	Hyperkeratotic papule, Orthokeratosis, Palmoplantar hyperkeratosis, Hypergranulosis	ORPHA:38
Idiopathic Localized Lipodystrophy	Inflammatory abnormality of the skin, Pruritus, Erythema, Morphea, Scaling skin, Scleroderma	ORPHA:90158
Bathing Suit Ichthyosis	Erythroderma, Thickened skin, Parakeratosis, Congenital nonbullous ichthyosiform erythroderma, Ic...	ORPHA:100976
Pityriasis Rubra Pilaris	Eczema, Erythroderma, Pustule, Subungual hyperkeratosis, Pruritus, Thickened skin, Palmoplantar k...	ORPHA:2897
Mal De Meleda	Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Er...	ORPHA:87503
Keratosis Palmoplantaris Striata Ii	Palmoplantar keratoderma, Epidermal acanthosis	OMIM:612908
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse	Palmoplantar keratoderma, Epidermal acanthosis	OMIM:615735
Erythrokeratodermia Variabilis Et Progressiva 4	Epidermal acanthosis, Erythema, Palmoplantar hyperkeratosis, Hyperkeratosis	OMIM:617526
Chilblain Lupus	Inflammatory abnormality of the skin, Pruritis on hand, Discoid lupus rash, Malar rash, Increased...	ORPHA:90280
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Predominantly dermal neutrophilic infiltrate, Pustule, Superficial dermal perivascular inflammato...	ORPHA:284426
Congenital Panfollicular Nevus	Hyperkeratosis	ORPHA:139414
Ichthyosis Prematurity Syndrome	Allergic rhinitis, Erythroderma, Pruritus, Polyhydramnios, Follicular hyperkeratosis, Generalized...	OMIM:608649
Dermatitis, Atopic	Atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Recurrent skin infections, Ichthyosis, Fa...	OMIM:603165
Lymphatic Malformation 3	Recurrent skin infections, Lymphedema	OMIM:613480
Netherton Syndrome	Fine hair, Eczema, Acanthosis nigricans, Sparse eyelashes, Abnormal hair morphology, Erythroderma...	ORPHA:634
Ichthyosis With Confetti	Erythroderma, Palmoplantar hyperkeratosis, Hyperkeratosis	OMIM:609165
Kerion Celsi	Inflammatory abnormality of the skin, Recurrent skin infections, Recurrent cutaneous abscess form...	ORPHA:499
Pemphigus Foliaceus	Psoriasiform dermatitis, Erythroderma, Acantholysis, Pustule, Pruritus, Erythema, Scaling skin, C...	ORPHA:79481
Acral Peeling Skin Syndrome	Eczema, Erythema, Ichthyosis, Scaling skin, Excessive wrinkling of palmar skin	ORPHA:263534
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Palmoplantar keratoderma, Angular cheilitis, Hyperkeratosis, Scaling skin, Epidermal acanthosis	OMIM:616295
Deafness, Neural, With Atypical Atopic Dermatitis	Late onset atopic dermatitis, Increased circulating IgE level	OMIM:221700
Palmoplantar Keratoderma And Congenital Alopecia 2	Sclerodactyly, Facial erythema, Hyperkeratosis, Dry skin, Palmoplantar hyperkeratosis	OMIM:212360
Ige Responsiveness, Atopic	Increased circulating IgE level, Eczema	OMIM:147050
Ulerythema Ophryogenesis	Hyperkeratotic papule, Dry skin, Acne, Follicular hyperkeratosis, Facial erythema, Contact dermat...	ORPHA:3406
Classic Mycosis Fungoides	Eczema, Pruritus, Erythema, Skin rash, Hyperkeratosis, Dry skin, Skin ulcer	ORPHA:2584
Netherton Syndrome	Erythroderma, Angioedema, Decreased circulating IgG level, Brittle hair, Hypernatremic dehydratio...	OMIM:256500
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Congenital alopecia totalis, Dry skin, Cutis laxa, Alopecia of scalp, Absent pubic hair, Sparse e...	ORPHA:2269
Elastosis Perforans Serpiginosa	Hyperkeratotic papule, Crusting erythematous dermatitis, Cutis laxa, Epidermal acanthosis	ORPHA:79148
Atrophoderma Vermiculata	Hyperkeratotic papule, Pruritus, Erythema, Abnormal epidermal morphology, Follicular hyperkeratosis	ORPHA:79100
Congenital Disorder Of Glycosylation, Type If	Dry skin, Scaling skin, Erythroderma, Hyperkeratosis	OMIM:609180
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Immunodeficiency 24	Decreased specific pneumococcal antibody level, Defective T cell proliferation, Decreased circula...	OMIM:615897
Vulvovaginal Gingival Syndrome	Ridged nail, Pruritus, Erythema, Parakeratosis, Abnormality of tumor necrosis factor secretion, E...	ORPHA:83453
Riddle Syndrome	Dry skin, Decreased circulating IgG level	OMIM:611943
Immunoerythromyeloid Hypoplasia	Decreased circulating IgG level	OMIM:242880
Pachyonychia Congenita 4	Palmoplantar keratoderma, Hyperkeratosis	OMIM:615728
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level	OMIM:235550
Odontoonychodermal Dysplasia	Fine hair, Anonychia, Dry hair, Dystrophic fingernails, Dystrophic toenail, Sparse body hair, Ery...	OMIM:257980
Porokeratosis 7, Multiple Types	Porokeratosis, Parakeratosis	OMIM:614714
Acral Self-Healing Collodion Baby	Erythema, Localized epidermolytic hyperkeratosis, Lack of skin elasticity, Edema of the dorsum of...	ORPHA:281127
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Sparse eyelashes, Alopecia, Parakeratosis, Orthokeratosis, Thick hair, Ichthyosis, Dry skin, Spar...	OMIM:607626
Erythema Nodosum, Familial	Erythema nodosum	OMIM:132990
Candidiasis, Familial, 2	Increased circulating IgE level, Chronic oral candidiasis, Deep dermatophytosis	OMIM:212050
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Perifolliculitis	OMIM:260910
Hyperkeratosis-Hyperpigmentation Syndrome	Hyperkeratosis	ORPHA:1336
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Erythroderma, Lethal Congenital	Congenital exfoliative erythroderma	OMIM:227090
Pruritic Urticarial Papules And Plaques Of Pregnancy	Eczematoid dermatitis, Pruritis on breast, Pruritis on hand, Pruritis on abdomen, Pruritus, Stria...	ORPHA:64745
Combined Immunodeficiency Due To Dock8 Deficiency	Atopic dermatitis, Pneumonia, Chronic otitis media, Skin ulcer, Increased circulating IgE level, ...	ORPHA:217390
Immunodeficiency 72 With Autoinflammation	Increased circulating IgE level, Molluscum contagiosum, Increased circulating IgG level	OMIM:618982
Chronic Actinic Dermatitis	Late onset atopic dermatitis, Eczema, Allergic rhinitis, Erythroderma, Pruritus	ORPHA:330064
Sézary Syndrome	Erythroderma, Abnormal immunoglobulin level, Nail dystrophy, Palmoplantar keratoderma, Alopecia, ...	ORPHA:3162
Inflammatory Skin And Bowel Disease, Neonatal, 1	Erythroderma, Pustule, Perianal erythema, Increased circulating IgE level, Perioral erythema, Par...	OMIM:614328
Immunodeficiency 55	Dry skin, Eczema, Recurrent skin infections, Ichthyosis	OMIM:617827
Erythrokeratoderma ''En Cocardes''	Hyperkeratosis	ORPHA:315
Graham Little-Piccardi-Lassueur Syndrome	Perifollicular hyperkeratosis, Pruritus	ORPHA:505
Ichthyosis, Congenital, Autosomal Recessive 9	Hypergranulosis, Congenital ichthyosiform erythroderma, Epidermal acanthosis	OMIM:615023
Conductive Deafness-Malformed External Ear Syndrome	Conductive hearing impairment, Overfolded helix, Abnormality of the pinna, Sensorineural hearing ...	ORPHA:3216
Bullous Diffuse Cutaneous Mastocytosis	Pruritus, Erythroderma	ORPHA:280785
Lamellar Ichthyosis	Erythroderma, Chronic otitis media, Pruritus, Lack of skin elasticity, Ichthyosis, Hyperkeratosis...	ORPHA:313
Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome	Dry skin, Ichthyosis	ORPHA:2271
Autoinflammation With Arthritis And Dyskeratosis	Keratoconjunctivitis sicca, Increased circulating IgA level, Increased circulating IgG level, Pun...	OMIM:617388
Erythroderma Desquamativum	Seborrheic dermatitis	ORPHA:314
Oculotrichodysplasia	Dry skin, Sparse eyelashes, Sparse lateral eyebrow, Sparse scalp hair, Sparse pubic hair, General...	OMIM:257960
Immunodeficiency 58	Eczema, Allergic rhinitis, Decreased specific antibody response to vaccination, Psoriasiform lesi...	OMIM:618131
Histiocytosis, Familial Lipochrome	Increased circulating antibody level	OMIM:235900
Erythrokeratodermia Variabilis	Patchy palmoplantar hyperkeratosis, Erythema, Skin rash, Hyperkeratosis, Dry skin	ORPHA:317
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgA level, Impaired memory B cell generation, Decreased circulating IgG lev...	OMIM:606843
Immunodeficiency, Common Variable, 11	Increased circulating IgE level, Decreased circulating IgG level	OMIM:615767
Sjögren-Larsson Syndrome	Erythema, Inflammatory abnormality of the eye, Ichthyosis, Hyperkeratosis, Dry skin	ORPHA:816
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant	Eczematoid dermatitis, Erythema, Chronic mucocutaneous candidiasis, Increased circulating IgE lev...	OMIM:147060
Non-Epidermolytic Palmoplantar Keratoderma	Pruritus, Erythema, Diffuse palmoplantar hyperkeratosis, Skin ulcer	ORPHA:2337
Recessive X-Linked Ichthyosis	Dry skin, Ichthyosis, Hyperkeratosis	ORPHA:461
Amyloidosis, Primary Localized Cutaneous, 1	Scaling skin, Pruritus, Dry skin, Cutis laxa	OMIM:105250
Superficial Epidermolytic Ichthyosis	Acantholysis, Edema, Erythema, Palmoplantar keratoderma, Thin skin, Ichthyosis	ORPHA:455
Immunodeficiency 25	Erythroderma, Complete or near-complete absence of specific antibody response to tetanus vaccine,...	OMIM:610163
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Palmoplantar keratoderma, Parakeratosis, Posterior blepharitis, Palmopl...	OMIM:300918
Aicardi-Goutieres Syndrome 5	Dry skin, Chilblains, Scaling skin	OMIM:612952
Insulin-Resistance Syndrome Type A	Hyperkeratosis	ORPHA:2297
Ichthyosis, Spastic Quadriplegia, And Mental Retardation	Erythema, Scaling skin, Ichthyosis, Hyperkeratosis, Dry skin	OMIM:614457
Ichthyosis, Hystrix-Like, With Deafness	Erythroderma, Palmoplantar keratoderma, Punctate keratitis, Ichthyosis, Hyperkeratosis	OMIM:602540
Ichthyosis, Congenital, Autosomal Recessive 1	Erythroderma, Parakeratosis, Palmoplantar hyperkeratosis, Congenital ichthyosiform erythroderma, ...	OMIM:242300
Huriez Syndrome	Dry skin, Palmoplantar keratoderma, Lack of skin elasticity, Sclerodactyly	ORPHA:384
Trichothiodystrophy 7, Nonphotosensitive	Follicular hyperkeratosis, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:618546
White Sponge Nevus 2	Edema, Hyperparakeratosis, Epidermal acanthosis	OMIM:615785
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma	Linear arrays of macular hyperkeratoses in flexural areas, Parakeratosis, Congenital nonbullous i...	OMIM:601952
Amyloidosis, Primary Localized Cutaneous, 3	Dry skin, Pruritus	OMIM:617920
Bone Marrow Failure Syndrome 4	Dry skin, Eczema, Decreased circulating antibody level, Bone marrow hypocellularity	OMIM:618116
Epidermolytic Palmoplantar Keratoderma	Epidermal hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Palmar hyperkeratosis, Di...	ORPHA:2199
Cutaneous Mastocytoma	Peau d'orange, Angioedema, Pruritus, Thickened skin, Erythema, Maculopapular exanthema, Scaling skin	ORPHA:79455
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Folliculitis, Palmoplantar keratoderma, Keratitis, Follicular hyperkeratosis, Facial erythema, Dr...	OMIM:308800
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Eczema, Reduced antigen-specific T cell proliferation, Reduced delayed hypersensitivity, Increase...	OMIM:617241
Congenital Lethal Erythroderma	Dry skin, Congenital exfoliative erythroderma, Ichthyosis, Hypoalbuminemia	ORPHA:1954
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Abnormality of humoral immunity, Increased circulating IgE level, Lack of T cell function, Inflam...	ORPHA:277
Infantile Digital Fibromatosis	Hyperkeratosis, Epidermal acanthosis, Parakeratosis	ORPHA:199267
Hyperkeratosis Lenticularis Perstans	Pruritus, Hyperkeratosis lenticularis perstans, Skin ulcer	ORPHA:409
Hyperimmunoglobulin G1(A1) Syndrome	Increased circulating IgA level, Increased circulating IgG level	OMIM:144120
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Decreased circulating IgG level	OMIM:242870
Dowling-Degos Disease 4	Hypergranulosis, Epidermal acanthosis	OMIM:615696
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Erythroderma, Psoriasiform lesion, Increased circulating IgA level, Decreased lymphocyte prolifer...	ORPHA:169154
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level, Eczema	OMIM:618985
Olmsted Syndrome 2	Cheilitis, Pruritus, Palmoplantar keratoderma, Parakeratosis, Perioral hyperkeratosis, Hyperkerat...	OMIM:619208
Coxoauricular Syndrome	Microtia, Hearing impairment	OMIM:122780
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Hyperkeratosis	OMIM:618339
Mannose-Binding Lectin Deficiency	Recurrent skin infections	OMIM:614372
Immunodeficiency, Common Variable, 5	Chronic decreased circulating total IgG	OMIM:613495
Lichen Planus Pemphigoides	Pruritus, Skin vesicle, Hyperkeratosis, Blepharitis, Conjunctivitis	ORPHA:254478
Focal Palmoplantar And Gingival Keratoderma	Subungual hyperkeratosis, Circumungual hyperkeratosis, Palmoplantar keratoderma, Gingival hyperke...	ORPHA:2200
Pili Torti-Onychodysplasia Syndrome	Eczema, Brittle hair, Palmoplantar keratoderma, Alopecia, Absent eyelashes, Absent eyebrow, Nail ...	ORPHA:2890
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Kimura Disease	Increased circulating IgE level	ORPHA:482
Anonychia With Flexural Pigmentation	Follicular hyperkeratosis, Hyperkeratosis	ORPHA:69125
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Dry skin, Follicular hyperkeratosis	OMIM:617066
Immunodeficiency 86	Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level	OMIM:619549
Parana Hard Skin Syndrome	Thickened skin, Hyperkeratosis	ORPHA:2812
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Pruritus, Plantar hyperkeratosis, Palmar hyperkeratosis, Hyperkeratosis	ORPHA:79399
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Psoriasiform dermatitis, Eczema, Erythroderma, Decreased circulating IgA level, Chronic oral cand...	OMIM:606367
Ichthyosis, Cyclic, With Epidermolytic Hyperkeratosis	Congenital bullous ichthyosiform erythroderma, Palmoplantar hyperkeratosis, Ichthyosis	OMIM:607602
Ectodermal Dysplasia/Skin Fragility Syndrome	Scaling skin, Palmoplantar hyperkeratosis	OMIM:604536
Iga Pemphigus	Pustule, Acantholysis, Increased circulating IgA level, Pruritus, Neutrophilic infiltration of th...	ORPHA:555905
Severe Combined Immunodeficiency, X-Linked	Agammaglobulinemia, Decreased circulating IgA level, Reduced natural killer cell activity, Decrea...	OMIM:300400
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Pruritus, Palmoplantar hyperkeratosis, Hyperkeratosis	ORPHA:89838
Trichothiodystrophy 1, Photosensitive	Fine hair, Tiger tail banding, Small nail, Erythroderma, Decreased circulating IgG level, Brittle...	OMIM:601675
Porokeratosis 3, Multiple Types	Porokeratosis, Parakeratosis	OMIM:175900
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome	Pustule, Myositis, Acne, Arthritis, Increased inflammatory response, Crohn's disease, Increased c...	ORPHA:69126
Candidiasis, Familial, 8	Seborrheic dermatitis, Blepharitis	OMIM:615527
Congenital Non-Bullous Ichthyosiform Erythroderma	Erythroderma, Pruritus, Palmoplantar keratoderma, Keratitis, Ichthyosis	ORPHA:79394
Neutropenia, Chronic Familial	Increased circulating antibody level	OMIM:162700
Erythema Elevatum Diutinum	Increased circulating antibody level, Skin rash, Skin vesicle	ORPHA:90000
Harlequin Ichthyosis	Erythroderma, Ichthyosis, Hyperkeratosis, Dehydration, Congenital ichthyosiform erythroderma	ORPHA:457
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Increased circulating IgM level, Increased circulating IgG level	OMIM:619220
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Increased circulating antibody level, Ichthyosis	OMIM:618495
Psoriasis 14, Pustular	Psoriasiform dermatitis, Cholangitis, Pustule, Oligoarthritis, Erythema, Parakeratosis, Elevated ...	OMIM:614204
Grubben-De Cock-Borghgraef Syndrome	Dry skin, Eczema	ORPHA:2101
Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma	Microtia	OMIM:611863
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Nephritis, Arthritis	OMIM:216950
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive	Increased circulating IgE level, Eczema	OMIM:618523
Neurodegeneration, Infantile-Onset, Biotin-Responsive	Decreased circulating IgG level	OMIM:618973
Hypotrichosis 6	Pruritus, Follicular hyperkeratosis, Erythema	OMIM:607903
Trichodysplasia-Xeroderma Syndrome	Brittle hair, Alopecia, Coarse hair, Sparse and thin eyebrow, Trichorrhexis nodosa, Pili torti, D...	ORPHA:3361
Autosomal Dominant Hyper-Ige Syndrome	Eczema, Abnormal hair morphology, Dystrophic fingernails, Pruritus, Increased circulating IgE lev...	ORPHA:2314
Peeling Skin Syndrome 2	Scaling skin, Erythema	OMIM:609796
Phenylketonuria	Dry skin, Eczema, Scleroderma	OMIM:261600
Immunodeficiency 15A	Recurrent otitis media, Acne inversa, Chronic mucocutaneous candidiasis, Recurrent sinusitis, Cut...	OMIM:618204
Complement Component 5 Deficiency	Generalized seborrheic dermatitis	OMIM:609536
Lymphoma, Hodgkin, Classic	Polyclonal elevation of IgM	OMIM:236000
Dracunculiasis	Recurrent cutaneous abscess formation, Pruritus, Arthritis, Skin rash, Skin ulcer	ORPHA:231
Microcephaly 6, Primary, Autosomal Recessive	Microtia	OMIM:608393
Immunodeficiency, Common Variable, 4	Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ...	OMIM:613494
Anonychia With Flexural Pigmentation	Dry skin	OMIM:106750
Angioma Serpiginosum, X-Linked	Hyperkeratosis	OMIM:300652
Tooth Agenesis, Selective, 8	Dry skin	OMIM:617073
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Pruritus, Erythema, Palmoplantar keratoderma, Parakeratosis, Ichthyosis, Hyperkeratosis	OMIM:615821
Keratolytic Winter Erythema	Pustule	ORPHA:50943
Immunodeficiency, Common Variable, 12, With Autoimmunity	Bronchiectasis, Pyoderma gangrenosum, Decreased circulating antibody level, Recurrent skin infect...	OMIM:616576
Immunodeficiency 11B With Atopic Dermatitis	Atopic dermatitis, Pneumonia	OMIM:617638
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance	Dry skin, Eczema	OMIM:612947
Lymphoid System Deterioration, Progressive	Decreased circulating IgG level, Decreased circulating total IgM	OMIM:247630
Centrifugal Lipodystrophy	Inflammatory abnormality of the skin, Lymphadenitis, Erythema, Scaling skin	ORPHA:90156
Immunodeficiency With Hyper-Igm, Type 5	Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgM level...	OMIM:608106
Porokeratosis 1, Multiple Types	Porokeratosis, Parakeratosis	OMIM:175800
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Streaks of hyperkeratosis along each fin...	OMIM:148700
Familial Benign Chronic Pemphigus	Hyperkeratosis, Erythema, Acantholysis, Skin vesicle	ORPHA:2841
Immunodeficiency 64	Defective T cell proliferation, Increased circulating IgA level, Decreased circulating IgG level,...	OMIM:618534
Singleton-Merten Syndrome 2	Hyperkeratosis	OMIM:616298
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Pruritus, Erythema migrans, Parakeratosis, Skin vesicle	ORPHA:158681
Immune Deficiency, Familial Variable	Decreased circulating IgA level, Decreased circulating IgG level	OMIM:146830
Meige Disease	Predominantly lower limb lymphedema, Edema of the dorsum of hands, Facial edema, Recurrent bacter...	ORPHA:90186
Diffuse Cutaneous Mastocytosis	Erythroderma, Peau d'orange, Pruritus, Thickened skin, Scaling skin	ORPHA:79456
Neuropathy, Hereditary Sensory, Type If	Hyperkeratosis, Osteomyelitis	OMIM:615632
Punctate Palmoplantar Keratoderma Type 1	Hyperkeratotic papule, Nail dystrophy, Palmoplantar keratoderma, Abnormal epidermal morphology, H...	ORPHA:79501
X-Linked Intellectual Disability-Seizures-Psoriasis Syndrome	Psoriasiform dermatitis	ORPHA:3052
Mental Retardation And Psoriasis	Psoriasiform dermatitis	OMIM:309480
Immunodeficiency 89 And Autoimmunity	Increased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level	OMIM:619632
Rare Cutaneous Lupus Erythematosus	Deep dermal perivascular inflammatory infiltrate, Pustule, Superficial dermal perivascular inflam...	ORPHA:535
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgA level, Decreased circulating IgG level, Impaired Ig class switch recomb...	OMIM:605258
Popov-Chang syndrome	Dry skin, Decreased circulating antibody level, Coarse hair, Hyperkeratosis	OMIM:618428
Ichthyosis, Congenital, Autosomal Recessive 12	White scaling skin	OMIM:617320
Peeling Skin Syndrome 3	White scaling skin	OMIM:616265
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Erythroderma, Keratitis, Follicular hyperkeratosis, Scaling skin, Dry skin	OMIM:308205
Tylosis With Esophageal Cancer	Diffuse palmoplantar hyperkeratosis, Parakeratosis	OMIM:148500
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Microtia	OMIM:612138
Quinquaud Folliculitis Decalvans	Recurrent skin infections, Pustule	ORPHA:346
Ichthyosis, Congenital, Autosomal Recessive 3	Congenital nonbullous ichthyosiform erythroderma, Erythema, Palmoplantar keratoderma, Hyperkeratosis	OMIM:606545
Hidrotic Ectodermal Dysplasia	Sparse eyelashes, Palmoplantar keratoderma, Sparse pubic hair, Sparse hair, Palmoplantar hyperker...	ORPHA:189
Tempi Syndrome	Ascites, Increased circulating IgG level, Facial erythema, Transudative pleural effusion	ORPHA:284227
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Abnormal hair morphology, Edema, Pedal edema	OMIM:152800
Ectodermal Dysplasia/Short Stature Syndrome	Epidermal acanthosis, Hyperkeratosis	OMIM:616029
Caspase 8 Deficiency	Eczema, Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95-induced ly...	OMIM:607271
Immunodeficiency, Common Variable, 7	Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag...	OMIM:614699
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Erythroderma, Decreased circulating total IgA, Pneumonia, Chronic oral candidiasis, Hepatitis, De...	ORPHA:169160
Darier Disease	Pruritus, Subungual hyperkeratotic fragments, Palmoplantar keratoderma, Thickened skin, Acrokerat...	ORPHA:218
Microtia, Hearing Impairment, And Cleft Palate	Overfolded helix, Mixed hearing impairment, Stenosis of the external auditory canal, Increased in...	OMIM:612290
Thyrotropin-Releasing Hormone Deficiency	Dry skin	OMIM:275120
Panniculitis-Induced Localized Lipodystrophy	Inflammatory abnormality of the skin, Abnormal immunoglobulin level, Erythema	ORPHA:90159
Immunodeficiency, Common Variable, 8, With Autoimmunity	Inflammation of the large intestine, Decreased specific antibody response to vaccination, Pneumon...	OMIM:614700
Immunodeficiency 66	Recurrent skin infections, Pustule	OMIM:618847
Familial Hemophagocytic Lymphohistiocytosis	Ecchymosis, Abnormality of serum cytokine level, Increased circulating interleukin 6, Infectious ...	ORPHA:540
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM	OMIM:153600
Ectodermal Dysplasia-Syndactyly Syndrome 2	Congenital bullous ichthyosiform erythroderma, Follicular hyperkeratosis, Palmoplantar keratoderm...	OMIM:613576
Craniosynostosis-Mental Retardation-Clefting Syndrome	Dry skin	OMIM:218650
Mpdu1-Cdg	Elevated circulating creatine kinase concentration, Eczema, Scaling skin, Ichthyosis	ORPHA:79323
Corneodermatoosseous Syndrome	Erythroderma, Palmoplantar hyperkeratosis	OMIM:122440
Night Blindness, Congenital Stationary, Type 1C	Dry skin	OMIM:613216
Boutonneuse Fever	Petechiae, Increased circulating IgG level, Increased circulating IgM level, Maculopapular exanth...	ORPHA:83313
Trichodysplasia-Xeroderma	Sparse eyelashes, Dry hair, Brittle hair, Alopecia, Coarse hair, Sparse scalp hair, Sparse pubic ...	OMIM:190360
Acrokeratosis Verruciformis Of Hopf	Hypergranulosis, Punctate palmoplantar hyperkeratosis, Epidermal acanthosis, Hyperkeratosis	ORPHA:79151
Ichthyosis, Congenital, Autosomal Recessive 2	Erythema, Palmoplantar keratoderma, Hypergranulosis, Congenital nonbullous ichthyosiform erythrod...	OMIM:242100
Sting-Associated Vasculopathy, Infantile-Onset	Pustule, Increased circulating IgA level, Nail dystrophy, Erythema, Increased circulating IgG lev...	OMIM:615934
Pyoderma Gangrenosum	Inflammation of the large intestine, Pustule, Myositis, Increased circulating antibody level, Rhe...	ORPHA:48104
Kid Syndrome	Conjunctivitis, Psoriasiform dermatitis, Keratoconjunctivitis sicca, Folliculitis, Recurrent cuta...	ORPHA:477
Uv-Sensitive Syndrome 3	Dry skin	OMIM:614640
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level	OMIM:233650
Epidermodysplasia Verruciformis	Seborrheic dermatitis, Recurrent skin infections, Pustule	ORPHA:302
Inflammatory Bowel Disease 28, Autosomal Recessive	Folliculitis, Pyoderma, Perianal abscess, Crohn's disease, Enterocolitis, Colitis	OMIM:613148
Reticular Dysgenesis	Chronic otitis media, Skin ulcer, Decreased circulating antibody level, Skin rash	ORPHA:33355
Erosive Pustular Dermatosis Of The Scalp	Pustule	ORPHA:222
Igg4-Related Aortitis	Complement deficiency, Increased circulating IgE level, Increased circulating antibody level, Inc...	ORPHA:449400
Lichen Planopilaris	Pruritus, Hepatitis, Skin ulcer, Hyperkeratosis	ORPHA:525
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Fine hair, Abnormal hair morphology, Alopecia, Abnormal toenail morphology, Dry skin, Abnormal fi...	ORPHA:248
Rat-Bite Fever	Myocarditis, Pericarditis, Pustule, Endocarditis, Lymphadenitis, Oligoarthritis, Arthritis, Septi...	ORPHA:31205
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Conductive hearing impairment, Abnormality of the pinna, Sensorineural hearing impairment, Microt...	OMIM:618500
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type	Hirsutism, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulatin...	OMIM:300861
Chronic Recurrent Multifocal Osteomyelitis	Palmoplantar pustulosis, Osteomyelitis	OMIM:259680
Congenital Disorder Of Glycosylation, Type Iq	Eczema, Cutis laxa, Ichthyosis, Hyperkeratosis	OMIM:612379
Ataxia-Photosensitivity-Short Stature Syndrome	Dry skin	ORPHA:1184
Dermoodontodysplasia	Dry skin, Nail dysplasia, Trichodysplasia	OMIM:125640
Darier-White Disease	Acrokeratosis, Subungual hyperkeratotic fragments, Pruritus, Acantholysis	OMIM:124200
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Decreased circulating IgG level, Decreased circulating total IgM	OMIM:618987
Ectodermal Dysplasia And Immunodeficiency 1	Increased circulating IgA level, Reduced natural killer cell activity, Dysgammaglobulinemia, Apla...	OMIM:300291
Insulin Autoimmune Syndrome	Increased circulating antibody level, Acanthosis nigricans	ORPHA:411593
Congenital Disorder Of Glycosylation, Type Iil	Peau d'orange, Impaired T cell function, Decreased specific anti-polysaccharide antibody level, H...	OMIM:614576
Uv-Sensitive Syndrome 1	Dry skin	OMIM:600630
Prolidase Deficiency	Pruritus, Erythema, Palmoplantar keratoderma, Hyperkeratosis, Dry skin, Crusting erythematous der...	ORPHA:742
Pgm3-Cdg	Atopic dermatitis, Eczema, Allergic rhinitis, Bronchiectasis, Chronic otitis media, Increased cir...	ORPHA:443811
Inflammatory Skin And Bowel Disease, Neonatal, 2	Pustule, Edema, Recurrent pneumonia, Dehydration, Epidermal acanthosis	OMIM:616069
Bullous Impetigo	Recurrent bacterial skin infections, Pustule, Septic arthritis	ORPHA:36237
Mandibulofacial Dysostosis-Microcephaly Syndrome	Large earlobe, Conductive hearing impairment, Morphological abnormality of the middle ear, Overfo...	ORPHA:79113
Porokeratosis	Pruritus, Hyperkeratosis	ORPHA:79358
Autoimmune Lymphoproliferative Syndrome	Decreased lymphocyte apoptosis, Increased circulating IgA level, Increased circulating IgG level,...	OMIM:601859
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Dry skin, Follicular hyperkeratosis	ORPHA:486815
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Fine hair, Sparse eyelashes, Nail dysplasia, Slow-growing hair, Dry skin, Sparse and thin eyebrow...	OMIM:129490
Leopard Syndrome 3	Epidermal hyperkeratosis, Webbed neck, Posteriorly rotated ears, Sensorineural hearing impairment...	OMIM:613707
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Sparse eyelashes, Absent hair, Ridged nail, Nail dystrophy, Palmoplantar keratoderma, Sparse eyeb...	ORPHA:1010
Pachyonychia Congenita 1	Follicular hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:167200
Treacher Collins Syndrome 3	Conductive hearing impairment, Abnormality of the outer ear, Microtia	OMIM:248390
Immunodeficiency 67	Increased circulating IgE level	OMIM:607676
Irida Syndrome	Pallor, Ichthyosis, Hyperkeratosis	ORPHA:209981
Immunodeficiency, Common Variable, 14	Psoriasiform dermatitis, Decreased specific antibody response to vaccination, Decreased circulati...	OMIM:617765
Immunodeficiency 85 And Autoimmunity	Eczema, Erythroderma, Decreased circulating IgA level, Oligoarthritis, Decreased circulating IgG ...	OMIM:619510
Dermatofibrosarcoma Protuberans	Thickened skin, Erythema, Skin ulcer	ORPHA:31112
Immunodeficiency 23	Eczema, Allergic rhinitis, Bronchiectasis, Erythema, Increased circulating IgG level, Chronic muc...	OMIM:615816
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive	Atopic dermatitis, Eczema, Bronchiectasis, Pruritus, Recurrent otitis media, Chronic mucocutaneou...	OMIM:618282
Trichothiodystrophy 3, Photosensitive	Congenital nonbullous ichthyosiform erythroderma, Erythroderma, Ichthyosis	OMIM:616395
Lupus Erythematosus Tumidus	Deep dermal perivascular inflammatory infiltrate	ORPHA:90283
Bacterial Toxic-Shock Syndrome	Ecchymosis, Sinusitis, Myocarditis, Infectious encephalitis, Pneumonia, Peritonitis, Elevated cir...	ORPHA:36234
Idiopathic Chronic Eosinophilic Pneumonia	Atopic dermatitis, Increased circulating IgE level, Pleural effusion	ORPHA:2902
Pemphigus Vulgaris	Acantholysis, Recurrent cutaneous abscess formation	ORPHA:704
Urban-Rogers-Meyer Syndrome	Increased circulating IgE level	ORPHA:3409
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased circulating IgA level, Abnormal immunoglobulin level, Decreased circulating IgG level, ...	ORPHA:276
Omenn Syndrome	Erythroderma, Pneumonia, Pruritus, Edema, Thickened skin, Thyroiditis, Dry skin	ORPHA:39041
Thrombocytopenia 1	Increased circulating IgA level, Increased circulating IgE level, Eczema, Petechiae	OMIM:313900
Alopecia-Intellectual Disability Syndrome 4	Erythroderma	OMIM:618840
Xeroderma Pigmentosum Variant	Dry skin, Keratitis	ORPHA:90342
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Low-set ears, Protruding ear, Short ear	OMIM:614756
Dowling-Degos Disease	Hyperkeratotic papule, Pruritus, Acne inversa, Arthritis, Hyperkeratosis, Skin vesicle	ORPHA:79145
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay	Microtia	OMIM:618158
Cirrhosis, Familial	Increased circulating antibody level	OMIM:118900
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Increased circulating IgE level, Eczema, Alopecia, Erythroderma	OMIM:304790
Uremic Pruritus	Inflammatory abnormality of the skin, Abnormality of serum cytokine level, Pruritus, Recurrent sk...	ORPHA:94059
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome	Microtia	ORPHA:139450
Immunodeficiency, Common Variable, 3	Decreased circulating IgA level, Chronic decreased circulating total IgG, Decreased circulating t...	OMIM:613493
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Increased circulating antibody level	OMIM:247800
Branchiootic Syndrome 1	Cochlear malformation, Dilatated internal auditory canal, Hypoplasia of the cochlea, Low-set ears...	OMIM:602588
Combined Immunodeficiency, X-Linked	Decreased circulating IgG level	OMIM:312863
Amelo-Onycho-Hypohidrotic Syndrome	Dry skin, Hyperkeratosis	ORPHA:1028
Lymphatic Malformation 4	Hyperkeratosis, Lymphedema	OMIM:615907
Immunodeficiency 27A	Increased circulating IgM level, Increased circulating IgG level	OMIM:209950
Meier-Gorlin Syndrome 8	Low-set ears, Microtia	OMIM:617564
Ectodermal Dysplasia-Skin Fragility Syndrome	Cheilitis, Pruritus, Chapped lip, Palmoplantar keratoderma, Follicular hyperkeratosis, Recurrent ...	ORPHA:158668
Proteasome-Associated Autoinflammatory Syndrome 5	Skin rash	OMIM:619175
Graft Versus Host Disease	Inflammatory abnormality of the skin, Pneumonia, Stomatitis, Myositis, Fasciitis, Arthritis, Acut...	ORPHA:39812
Autoimmune Lymphoproliferative Syndrome, Type Iia	Petechiae, Decreased lymphocyte apoptosis, Increased circulating IgA level, Increased circulating...	OMIM:603909
Dermoodontodysplasia	Fingernail dysplasia, Dry skin, Sparse scalp hair, Trichodysplasia, Sparse body hair, Toenail dys...	ORPHA:1660
Proteasome-Associated Autoinflammatory Syndrome 2	Increased circulating antibody level, Periorbital edema, Skin rash	OMIM:618048
Transcobalamin Deficiency	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ...	ORPHA:859
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia	Conductive hearing impairment, Microtia	OMIM:248910
Moynahan Syndrome	Sensorineural hearing impairment, Hyperkeratosis	ORPHA:2574
Immunodeficiency 50	Eczema	OMIM:300988
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Hereditary Sensory And Autonomic Neuropathy Type 1	Osteomyelitis, Penetrating foot ulcers, Skin ulcer, Hyperkeratosis	ORPHA:36386
Keratoderma Hereditarium Mutilans	Hearing impairment, Sensorineural hearing impairment, Ichthyosis, Honeycomb palmoplantar hyperker...	ORPHA:494
Inflammatory Bowel Disease 25, Autosomal Recessive	Perianal abscess, Folliculitis, Enterocolitis	OMIM:612567
Immunodeficiency 70	Decreased circulating total IgA, Decreased circulating total IgG, Decreased circulating antibody ...	OMIM:618969
Necrobiosis Lipoidica	Inflammatory abnormality of the skin, Erythema, Abnormality of neutrophil physiology, Skin ulcer	ORPHA:542592
Neonatal Inflammatory Skin And Bowel Disease	Psoriasiform dermatitis, Pustule, Chapped lip, Erythema, Recurrent bacterial skin infections, Sca...	ORPHA:294023
Whim Syndrome 1	Decreased circulating IgG level, Decreased circulating antibody level	OMIM:193670
Immunoneurologic Disorder, X-Linked	Decreased circulating IgG2 level	OMIM:300076
Microtia	Abnormality of the pinna, Anotia, Microtia, Atresia of the external auditory canal, Hypoplastic h...	ORPHA:83463
Pressure-Induced Localized Lipoatrophy	Inflammatory abnormality of the skin	ORPHA:90160
Elastoderma	Eczema, Erysipelas	ORPHA:228240
Acrocephalopolydactyly	Microtia	ORPHA:221054
Milroy Disease	Predominantly lower limb lymphedema, Hyperkeratosis, Pedal edema, Erysipelas, Lymphedema	ORPHA:79452
Riddle Syndrome	Pneumonia, Decreased circulating IgA level, Decreased circulating IgG level, Chronic sinusitis, E...	ORPHA:420741
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level	ORPHA:206594
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Atopic dermatitis, Pneumonia	OMIM:618806
Immunodeficiency, Common Variable, 6	Chronic decreased circulating total IgG, Decreased specific pneumococcal antibody level, Purpura,...	OMIM:613496
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating IgE, Decr...	OMIM:618394
Mycosis Fungoides	Psoriasiform dermatitis, Eczema, Pruritus	OMIM:254400
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis	Pustule, Stomatitis, Osteomyelitis, Skin rash, Hyperkeratosis, Elevated circulating C-reactive pr...	OMIM:612852
Treacher Collins Syndrome 2	Conductive hearing impairment, Microtia	OMIM:613717
Trichothiodystrophy 6, Nonphotosensitive	Tiger tail banding, Brittle hair, Ichthyosis, Slow-growing hair, Dry skin	OMIM:616943
X-Linked Dominant Chondrodysplasia Punctata	Sparse eyelashes, Erythroderma, Coarse hair, Sparse eyebrow, Abnormal hair pattern, Scarring alop...	ORPHA:35173
Psoriasis-Related Juvenile Idiopathic Arthritis	Psoriasiform dermatitis, Psoriasiform lesion, Oligoarthritis, Pruritus, Sacroiliac arthritis, Ant...	ORPHA:85436
Oral Erosive Lichen	Cheilitis, Dry skin, Erythema	ORPHA:31142
Olmsted Syndrome 1	Pruritus, Palmoplantar keratoderma, Subungual hyperkeratosis, Parakeratosis	OMIM:614594
Interstitial Granulomatous Dermatitis With Arthritis	Inflammatory abnormality of the skin, Pruritus, Rheumatoid arthritis	ORPHA:79099
Hypohidrotic Ectodermal Dysplasia	Sinusitis, Keratoconjunctivitis sicca, Eczema, Inflammatory abnormality of the eye, Hyperkeratosi...	ORPHA:238468
Immunodeficiency 14A, Autosomal Dominant	Decreased specific pneumococcal antibody level, Increased circulating IgM level, Decreased circul...	OMIM:615513
Wilson-Turner Syndrome	Microtia	ORPHA:3459
3-Hydroxyisobutyric Aciduria	Microtia	ORPHA:939
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Dry skin, Acanthosis nigricans	OMIM:618527
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Dry skin, Acanthosis nigricans	ORPHA:3085
Absence Of Fingerprints-Congenital Milia Syndrome	Thickened skin, Skin rash	ORPHA:1658
Subcorneal Pustular Dermatosis	Pruritus, Increased circulating antibody level, Erythema, Pustule	ORPHA:48377
Menke-Hennekam Syndrome 1	Overfolded helix, Hearing impairment, Prominent inferior crus of antihelix, Absent earlobe, Low-s...	OMIM:618332
Microcephalic Primordial Dwarfism, Montreal Type	Alopecia of scalp, Premature graying of hair, Dry skin, Low posterior hairline, Abnormal hair qua...	ORPHA:2617
Immunodeficiency 33	Increased circulating IgA level, Decreased circulating total IgM	OMIM:300636
Ohdo Syndrome	Stenosis of the external auditory canal, Microtia, Hearing impairment	OMIM:249620
Mosaic Trisomy 14	Low-set, posteriorly rotated ears, Microtia	ORPHA:1703
Angiostrongyliasis	Increased circulating IgA level, Pruritus, Increased circulating IgG level, Increased circulating...	ORPHA:74
Drug Reaction With Eosinophilia And Systemic Symptoms	Myocarditis, Tubulointerstitial nephritis, Erythroderma, Infectious encephalitis, Angioedema, Pus...	ORPHA:139402
Isolated Agammaglobulinemia	Sinusitis, Pneumonia, Recurrent cutaneous abscess formation, Arthritis, Otitis media, Inflammator...	ORPHA:229717
Coxoauricular Syndrome	Atresia of the external auditory canal, Microtia, Hearing impairment	ORPHA:1508
Short Stature-Obesity Syndrome	Microtia	OMIM:269870
Psoriasis 15, Pustular, Susceptibility To	Psoriasiform dermatitis	OMIM:616106
X-Linked Immunoneurologic Disorder	Decreased circulating IgG2 level	ORPHA:2571
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Recurrent skin infections	OMIM:617744
Hypotrichosis And Recurrent Skin Vesicles	Follicular hyperkeratosis, Epidermal acanthosis, Angular cheilitis, Skin vesicle	OMIM:613102
Ameloonychohypohidrotic Syndrome	Seborrheic dermatitis, Dry skin	OMIM:104570
Mednik Syndrome	Ichthyosis, Decreased circulating ceruloplasmin concentration, Hyperkeratosis	ORPHA:171851
Rhizomelic Chondrodysplasia Punctata	Dry skin, Sparse body hair, Alopecia, Ichthyosis	ORPHA:177
Craniosynostosis, Herrmann-Opitz Type	Webbed neck, Abnormal antihelix morphology, Microtia	ORPHA:2145
Hemifacial Atrophy, Progressive	Microtia	OMIM:141300
Congenital Heart Defects And Ectodermal Dysplasia	Dry skin	OMIM:617364
Spinocerebellar Ataxia Type 34	Dry skin	ORPHA:1955
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Dry skin, Blepharitis	OMIM:618535
X-Linked Agammaglobulinemia	Sinusitis, Agammaglobulinemia, Recurrent cutaneous abscess formation, Chronic otitis media, Hepat...	ORPHA:47
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Foot osteomyelitis, Skin ulcer, Acral ulceration	ORPHA:139578
Proteus Syndrome	Epidermal acanthosis, Hyperkeratosis	OMIM:176920
Chilblain Lupus 1	Skin ulcer	OMIM:610448
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Eczematoid dermatitis, Seborrheic dermatitis, Erythema, Arthritis, Redundant skin, Palmoplantar h...	OMIM:259100
Palmoplantar Keratoderma And Congenital Alopecia 1	Epidermal hyperkeratosis, Brittle hair, Palmoplantar keratoderma, Alopecia, Sparse eyebrow, Palmo...	OMIM:104100
Rothmund-Thomson Syndrome, Type 1	Recurrent otitis media, Hyperkeratosis	OMIM:618625
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Low-set ears, Abnormality of the pinna, Microtia	OMIM:613603
Short Stature And Facioauriculothoracic Malformations	Cupped ear, Overfolded helix, Low-set ears, Microtia	OMIM:609654
Pellagra-Like Syndrome	Skin rash	OMIM:260650
Noonan Syndrome 8	Eczema, Palmoplantar cutis laxa, Webbed neck, Polyhydramnios, Hyperkeratosis, Pleural effusion	OMIM:615355
Granulomatous Disease, Chronic, Autosomal Recessive, 3	Recurrent aphthous stomatitis, Colitis, Recurrent sinusitis, Perioral eczema	OMIM:613960
Hypothyroidism, Congenital, Nongoitrous, 6	Dry skin	OMIM:614450
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Conductive hearing impairment, Microtia	OMIM:300946
Immunodeficiency 17	Eczema, Recurrent otitis media	OMIM:615607
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Increased circulating antibody level	OMIM:615285
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Short ear	ORPHA:314647
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	Eczema, Ichthyosis	ORPHA:3055
Lymphoproliferative Syndrome, X-Linked, 2	Inflammation of the large intestine, Folliculitis, Hepatitis, Acne, Decreased circulating antibod...	OMIM:300635
Zechi-Ceide Syndrome	Conductive hearing impairment, Abnormal earlobe morphology, Stenosis of the external auditory can...	ORPHA:217017
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Seborrheic dermatitis, Thickened skin, Acne, Hypoalbuminemia	OMIM:614441
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgA level, Impaired memory B cell generation, Decreased circulating IgG lev...	OMIM:308230
Aspergillosis	Sinusitis, Infectious encephalitis, Pneumonia, Bronchiectasis, Hepatitis, Osteomyelitis, Keratiti...	ORPHA:1163
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Cystic acne, Sterile arthritis, Pyoderma gangrenosum, Acne, Arthritis, Colitis	OMIM:604416
Catifa Syndrome	Microtia	OMIM:618761
Chronic Mucocutaneous Candidiasis	Cheilitis, Pruritus, Hepatitis, Erythema, Skin rash, Hyperkeratosis, Skin ulcer	ORPHA:1334
Pemphigus Erythematosus	Malar rash, Acantholysis	ORPHA:79480
Naegeli-Franceschetti-Jadassohn Syndrome	Subungual hyperkeratosis, Dystrophic toenail, Onycholysis, Nail dystrophy, Decreased number of sw...	ORPHA:69087
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Increased circulating IgA level	OMIM:314000
Flynn-Aird Syndrome	Progressive sensorineural hearing impairment, Hyperkeratosis	OMIM:136300
Basan Syndrome	Palmoplantar keratoderma, Epidermal acanthosis	OMIM:129200
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy	Highly arched eyebrow, Sparse eyebrow, Sparse pubic hair, Scaling skin, Dry skin, Absent axillary...	OMIM:618419
Proliferating Trichilemmal Cyst	Skin ulcer	ORPHA:492
9P13 Microdeletion Syndrome	Dry skin, Recurrent otitis media	ORPHA:324313
Hypertelorism-Microtia-Facial Clefting Syndrome	Conductive hearing impairment, Atresia of the external auditory canal, Microtia	ORPHA:2213
Hemifacial Microsomia With Radial Defects	Conductive hearing impairment, Atresia of the external auditory canal, Microtia	OMIM:141400
Chromomycosis	Hyperkeratotic papule, Predominantly lower limb lymphedema, Keratoconjunctivitis sicca, Pruritus,...	ORPHA:182
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive	Eczema, Otitis media, Pneumonia	OMIM:608971
20P12.3 Microdeletion Syndrome	Thickened helices, Microtia	ORPHA:261295
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating IgG level, Decreased circulating total IgM	ORPHA:2643
Distal Monosomy 17Q	Low-set, posteriorly rotated ears, Patent ductus arteriosus, Microtia	ORPHA:1597
6Q16 Microdeletion Syndrome	Low-set ears, Abnormal ear morphology, Microtia	ORPHA:171829
Igg4-Related Submandibular Gland Disease	Xerostomia, Increased circulating IgG4 level, Increased circulating IgG level, Facial edema, Comp...	ORPHA:449432
Lipoid Proteinosis	Acne, Thickened skin, Pustule, Hyperkeratosis	ORPHA:530
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Decreased circulating IgA level, Increased circulating IgE level, Absent specific antibody respon...	OMIM:102700
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome	Hyperkeratotic papule, Palmoplantar keratoderma, Palmoplantar hyperkeratosis	ORPHA:2698
Immunodeficiency, Common Variable, 2	Decreased circulating IgA level, Decreased circulating IgG level, Partial absence of specific ant...	OMIM:240500
Porphyria Cutanea Tarda, Type I	Eczema	OMIM:176090
Skin Fragility-Woolly Hair Syndrome	Sparse eyelashes, Acantholysis, Nail dystrophy, Palmoplantar keratosis with erythema and scale, A...	OMIM:607655
Leishmaniasis	Rhinitis, Increased circulating antibody level, Pallor, Skin ulcer	ORPHA:507
Laryngoonychocutaneous Syndrome	Skin ulcer	OMIM:245660
Beta-Mercaptolactate Cysteine Disulfiduria	Dry skin	ORPHA:1035
Immunodeficiency, Common Variable, 10	Psoriasiform dermatitis, Decreased circulating IgA level, Decreased circulating IgG level, Alopec...	OMIM:615577
Zinc Deficiency, Transient Neonatal	Eczema	OMIM:608118
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating IgA level, Reduced natural killer cell activity, Decreased circulating IgG ...	OMIM:619281
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Inflammatory abnormality of the skin, Eczematoid dermatitis, Eczema, Psoriasiform dermatitis, Tub...	ORPHA:37042
Immunodeficiency, Common Variable, 1	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:607594
Okur-Chung Neurodevelopmental Syndrome	Highly arched eyebrow, Decreased circulating IgA level, Decreased circulating IgG level, Decrease...	OMIM:617062
Juvenile Idiopathic Arthritis	Psoriasiform dermatitis, Pericardial effusion, Thickened skin, Arthritis, Uveitis, Skin rash, Gen...	ORPHA:92
Complex Regional Pain Syndrome	Slow-growing nails, Abnormality of hair growth, Erythema, Edema of the upper limbs, Dry skin, Ped...	ORPHA:83452
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Patent ductus arteriosus, Microtia	ORPHA:2547
Anhidrosis, Familial Generalized, With Abnormal Or Absent Sweat Glands	Dry skin, Palmoplantar hyperkeratosis	OMIM:206600
Aicardi-Goutieres Syndrome 7	Atopic dermatitis, Increased circulating antibody level	OMIM:615846
Microtia With Meatal Atresia And Conductive Deafness	Anotia, Conductive hearing impairment, Microtia, Aplasia/Hypoplasia of the middle ear	OMIM:251800
Familial Keratoacanthoma	Skin ulcer, Hyperkeratosis	ORPHA:493
Prolidase Deficiency	Eczema, Petechiae, Increased circulating antibody level, Recurrent pneumonia, Crusting erythemato...	OMIM:170100
Dermatoosteolysis, Kirghizian Type	Skin ulcer, Keratitis	OMIM:221810
Porphyria Cutanea Tarda	Chronic hepatitis, Increased circulating ferritin concentration, Decreased hepcidin level, Recurr...	ORPHA:101330
Thyroid Dyshormonogenesis 1	Dry skin	OMIM:274400
Adiposis Dolorosa	Dry skin, Recurrent skin infections, Arthritis	ORPHA:36397
Xfe Progeroid Syndrome	Dry skin	OMIM:610965
Mu-Heavy Chain Disease	Increased circulating antibody level	ORPHA:100024
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Low-set ears, Microtia	ORPHA:357175
Au-Kline Syndrome	Microtia	OMIM:616580
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating IgG level, Decreased circulating total IgM	OMIM:251190
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Low-set, posteriorly rotated ears, Microtia	ORPHA:2994
Gaucher Disease, Perinatal Lethal	Petechiae, Neonatal death, Congenital nonbullous ichthyosiform erythroderma, Purpura, Ichthyosis,...	OMIM:608013
Familial Melanoma	Dry skin	ORPHA:618
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Hirsutism, Nail dystrophy, Abnormal hair whorl, Dry skin, Low posterior hairline, Synophrys	OMIM:300860
Weiss-Kruszka Syndrome	Horizontal crus of helix, Overfolded helix, Low-set ears, Hearing impairment, Microtia, Cupped ea...	OMIM:618619
Simple Cryoglobulinemia	Monoclonal immunoglobulin M proteinemia, Acral ulceration, Complement deficiency, Paraproteinemia...	ORPHA:91139
Wiskott-Aldrich Syndrome, Autosomal Dominant	Eczema, Increased circulating IgA level, Abnormal delayed hypersensitivity skin test, Decreased s...	OMIM:600903
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Low-set ears, Posteriorly rotated ears, Microtia	OMIM:618089
Schnitzler Syndrome	Pruritus, Increased circulating IgM level, Skin rash	ORPHA:37748
Chanarin-Dorfman Syndrome	Sensorineural hearing impairment, Congenital nonbullous ichthyosiform erythroderma, Microtia	OMIM:275630
Skin Creases, Congenital Symmetric Circumferential, 2	Low-set ears, Posteriorly rotated ears, Microtia	OMIM:616734
Interstitial Lung Disease 2	Increased circulating antibody level	OMIM:178500
Protoporphyria, Erythropoietic, 1	Pruritus, Eczema, Edema	OMIM:177000
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Elevated circulating creatine kinase concentration, Follicular hyperkeratosis	ORPHA:300179
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency	Decreased circulating IgG level, Edema	OMIM:600351
Mental Retardation, Autosomal Recessive 35	Low-set ears, Microtia	OMIM:615162
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Dry skin, Acanthosis nigricans	OMIM:268020
Omenn Syndrome	Hypoproteinemia, Thickened skin, Erythroderma, Pneumonia	OMIM:603554
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgA level, Lymphadenitis, Decreased circulating IgG level, Decreased circul...	ORPHA:331206
Trichothiodystrophy	Tiger tail banding, Eczema, Alopecia of scalp, Dystrophic fingernails, Split nail, Ridged nail, A...

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