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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 (2 diseases)
Human diseases predicted to be associated with Flg (1169 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Ichthyosis Vulgaris		Eczematoid dermatitis, Absent keratohyalin granules, Dry skin, Ichthyosis	OMIM:146700
Recessive X-Linked Ichthyosis		Hyperkeratosis, Dry skin, Ichthyosis	ORPHA:461

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

Disease	Matching phenotypes	Source
Acne Inversa, Familial, 3	Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa	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, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:146750
Palmoplantar Keratoderma, Norrbotten Recessive Type	Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections	OMIM:244850
Keratosis, Focal Palmoplantar And Gingival	Circumungual hyperkeratosis, Subungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re...	OMIM:148730
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1	Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ...	OMIM:613000
Vohwinkel Syndrome, Variant Form	Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat...	OMIM:604117
Ichthyosis, Congenital, Autosomal Recessive 14	Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin, Congenital nonbu...	OMIM:617571
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis	ORPHA:86923
Acne Inversa, Familial, 1	Acne inversa	OMIM:142690
Ichthyosis, Congenital, Autosomal Recessive 13	Ichthyosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis	OMIM:617574
Palmoplantar Keratoderma, Punctate Type Iii	Hyperkeratosis, Acrokeratosis	OMIM:101850
Chilblain Lupus 2	Chilblains	OMIM:614415
Dermatoleukodystrophy	Hyperkeratosis, Thickened skin	ORPHA:1659
Ichthyosis Hystrix, Lambert Type	Hyperkeratosis, Orthokeratotic hyperkeratosis	OMIM:146600
Keratosis Linearis-Ichthyosis Congenita-Sclerosing Keratoderma Syndrome	Palmoplantar keratoderma, Ichthyosis	ORPHA:281201
Palmoplantar Keratoderma, Punctate Type Ii	Porokeratosis, Spinous keratoses of palms and soles	OMIM:175860
Linear Atrophoderma Of Moulin	Pruritus, Scleroderma, Inflammatory abnormality of the skin	ORPHA:140933
Palmoplantar Keratoderma, Punctate Type Ia	Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis	OMIM:148600
Peeling Skin Syndrome 6	Pruritus, Parakeratosis, Orthokeratosis, Atopic dermatitis	OMIM:618084
Hypotrichosis Simplex Of The Scalp	Abnormal eyebrow morphology, Sparse scalp hair, Parakeratosis, Epidermal acanthosis, Absent facia...	ORPHA:90368
Epidermolytic Hyperkeratosis 2	Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato...	OMIM:620150
Ichthyosis, Congenital, Autosomal Recessive 10	Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General...	OMIM:615024
Porokeratosis Of Mibelli	Pruritus, Hyperkeratosis, Porokeratosis	ORPHA:735
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis	OMIM:173200
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	OMIM:144150
Palmoplantar Keratoderma, Epidermolytic, 1	Plantar hyperkeratosis, Increased circulating IgE level, Palmoplantar hyperkeratosis, Palmar hype...	OMIM:144200
Ichthyosis, Congenital, Autosomal Recessive 8	Orthokeratosis, Hyperkeratosis, Hypergranulosis, Ichthyosis	OMIM:613943
Angioma Serpiginosum, Autosomal Dominant	Hyperkeratosis	OMIM:106050
Papillomatosis, Confluent And Reticulated	Hyperkeratosis	OMIM:167900
Epidermolytic Hyperkeratosis 1	Epidermal acanthosis, Palmoplantar hyperkeratosis, Congenital bullous ichthyosiform erythroderma,...	OMIM:113800
Verrucous Hemangioma	Inflammatory abnormality of the skin, Hyperkeratotic papule, Epidermal acanthosis	ORPHA:464318
Dermatitis Herpetiformis, Familial	Pruritus	OMIM:601230
Pruritus, Hereditary Localized	Pruritus	OMIM:177100
Psoriasis 2	Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Hyperkeratosis, Scaling skin	OMIM:602723
Palmoplantar Keratoderma-Deafness Syndrome	Hyperkeratosis, Palmoplantar keratoderma	ORPHA:2202
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke...	OMIM:613736
Ichthyosis, Congenital, Autosomal Recessive 5	Parakeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Erythr...	OMIM:604777
Ichthyosis Hystrix, Curth-Macklin Type	Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin	OMIM:146590
Reticulate Acropigmentation Of Kitamura	Hyperkeratosis	OMIM:615537
Porokeratosis Plantaris Palmaris Et Disseminata	Pruritus, Hyperkeratotic papule, Porokeratosis, Palmoplantar hyperkeratosis	ORPHA:737
Dissecting Cellulitis Of The Scalp	Pruritus, Recurrent skin infections, Edema	ORPHA:345
Epidermolysis Bullosa Simplex 1C, Localized	Hyperkeratosis	OMIM:131800
Ulerythema Ophryogenesis	Acne, Facial erythema, Hyperkeratotic papule, Follicular hyperkeratosis, Dry skin, Contact dermat...	ORPHA:3406
Ichthyosis, Congenital, Autosomal Recessive 9	Hypergranulosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Erythroderma, ...	OMIM:615023
Krt1-Related Diffuse Nonepidermolytic Keratoderma	Diffuse palmoplantar hyperkeratosis, Nonepidermolytic palmoplantar hyperkeratosis, Erythema, Atop...	ORPHA:530838
Peeling Skin Syndrome 5	Hyperkeratosis, Epidermal acanthosis, Scaling skin	OMIM:617115
Ichthyosis, Annular Epidermolytic, 2	Orthokeratosis, Palmoplantar keratoderma, Palmoplantar hyperkeratosis, Ichthyosis	OMIM:620148
Acrokeratosis Verruciformis	Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Epidermal acanthosis, Acrokeratosis	OMIM:101900
Ichthyosis, Congenital, Autosomal Recessive 6	Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Generalized ichthyosis, Congenital nonbu...	OMIM:612281
Congenital Panfollicular Nevus	Pruritus, Hyperkeratosis	ORPHA:139414
Erythrokeratodermia Variabilis Et Progressiva 1	Epidermal acanthosis, Hypergranulosis, Patchy palmoplantar hyperkeratosis, Erythroderma, Generali...	OMIM:133200
Benign Cephalic Histiocytosis	Inflammatory abnormality of the skin, Skin rash	ORPHA:157997
Peeling Skin Syndrome 4	Orthokeratosis, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis	OMIM:607936
Erythrokeratodermia Variabilis Et Progressiva 3	Orthokeratosis, Hyperkeratosis, Palmoplantar keratoderma, Hypergranulosis	OMIM:617525
Palmoplantar Keratoderma, Nagashima Type	Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis	OMIM:615598
Ichthyosis Hystrix Of Curth-Macklin	Hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Recurrent skin infections, Ichthyosis	ORPHA:79503
Erythrokeratodermia Variabilis Et Progressiva 6	Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate	OMIM:618531
Ichthyosis Vulgaris	Eczematoid dermatitis, Absent keratohyalin granules, Dry skin, Ichthyosis	OMIM:146700
Aquagenic Palmoplantar Keratoderma	Edema, Excessive skin wrinkling on dorsum of hands and fingers, Atopic dermatitis, Orthokeratotic...	ORPHA:498359
Keratoderma Hereditarium Mutilans With Ichthyosis	Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Palmoplantar hyperkeratosi...	ORPHA:79395
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati...	OMIM:618944
Ichthyosis, Congenital, Autosomal Recessive 7	Epidermal acanthosis, Hypergranulosis, Ichthyosis, Palmoplantar keratoderma, Erythroderma	OMIM:615022
Familial Reactive Perforating Collagenosis	Inflammatory abnormality of the skin, Perifolliculitis, Maculopapular exanthema, Pruritus, Abnorm...	ORPHA:79147
Dowling-Degos Disease 2	Hyperkeratotic papule, Follicular hyperkeratosis	OMIM:615327
Dystrophic Epidermolysis Bullosa Pruriginosa	Pruritus, Increased circulating IgE level, Hyperkeratosis, Nail dystrophy, Abnormal toenail morph...	ORPHA:89843
Acquired Ichthyosis	Recurrent skin infections, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyos...	ORPHA:454
Cole Disease	Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ...	OMIM:615522
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Hyperkeratosis, Epidermal acanthosis	OMIM:615028
Erythrokeratodermia Variabilis Et Progressiva 4	Epidermal acanthosis, Erythema, Palmoplantar hyperkeratosis, Hyperkeratosis, Congenital nonbullou...	OMIM:617526
Ichthyosis, Annular Epidermolytic, 1	Hyperparakeratosis, Palmoplantar hyperkeratosis, Ichthyosis, Congenital bullous ichthyosiform ery...	OMIM:607602
Bazex Syndrome	Parakeratosis, Edema, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Acanthosi...	ORPHA:166113
Autosomal Dominant Epidermolytic Ichthyosis	Erythroderma, Skin ulcer, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmopla...	ORPHA:312
Immunodeficiency 51	Recurrent skin infections, Eczema, Pneumonia, Pustule, Recurrent cutaneous fungal infections, Chr...	OMIM:613953
Epidermolysis Bullosa Dystrophica, Pretibial	Pruritus, Hyperkeratosis	OMIM:131850
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Psoriasiform dermatitis, Recurrent skin infections, Hypergranulosis, Acantholysis, Increased circ...	OMIM:615508
Acrokeratoelastoidosis Of Costa	Orthokeratosis, Hyperkeratotic papule, Hypergranulosis, Palmoplantar hyperkeratosis	ORPHA:38
Paget Disease, Extramammary	Eczematoid dermatitis	OMIM:167300
Bathing Suit Ichthyosis	Parakeratosis, Epidermal acanthosis, Thickened skin, Erythroderma, Palmoplantar hyperkeratosis, P...	ORPHA:100976
Intellectual Developmental Disorder, Fra12A Type	Hyperkeratosis, Erythroderma	OMIM:136630
Dowling-Degos Disease 4	Pruritus, Epidermal acanthosis, Hypergranulosis	OMIM:615696
Erythrokeratodermia Variabilis Et Progressiva 5	Hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:617756
Olmsted Syndrome 1	Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos...	OMIM:614594
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Eczema, Pruritus, Thickened skin, Pustule, Erythroderma, Palmoplantar k...	ORPHA:2897
Idiopathic Localized Lipodystrophy	Inflammatory abnormality of the skin, Pruritus, Erythema, Scaling skin, Scleroderma, Morphea	ORPHA:90158
Peeling Skin Syndrome 1	Brittle hair, Pruritus, Increased circulating IgE level, Onycholysis, Scaling skin, Nail dystroph...	OMIM:270300
Keratosis Palmoplantaris Striata Ii	Palmoplantar keratoderma, Epidermal acanthosis	OMIM:612908
Mal De Meleda	Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Ep...	ORPHA:87503
Chilblain Lupus	Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Skin ulcer, Hyperkeratosis, ...	ORPHA:90280
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl...	ORPHA:284426
Ichthyosis Prematurity Syndrome	Epidermal acanthosis, Allergic rhinitis, Polyhydramnios, Pruritus, Generalized ichthyosis, Follic...	OMIM:608649
Netherton Syndrome	Sparse scalp hair, Skin rash, Eczema, Sparse eyelashes, Sparse eyebrow, Abnormal hair morphology,...	ORPHA:634
Pemphigus Foliaceus	Psoriasiform dermatitis, Acantholysis, Pruritus, Pustule, Erythema, Crusting erythematous dermati...	ORPHA:79481
Ichthyosis With Confetti	Pruritus, Erythroderma, Palmoplantar hyperkeratosis, Scaling skin, Congenital nonbullous ichthyos...	OMIM:609165
Dermatitis, Atopic	Recurrent skin infections, Eczema, Allergic rhinitis, Pruritus, Atopic dermatitis, Facial erythem...	OMIM:603165
Inflammatory Skin And Bowel Disease, Neonatal, 2	Epidermal acanthosis, Polyhydramnios, Pustule, Increased circulating IgE level, Dehydration, Long...	OMIM:616069
Acral Peeling Skin Syndrome	Eczema, Erythema, Scaling skin, Ichthyosis, Excessive wrinkling of palmar skin	ORPHA:263534
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Epidermal acanthosis, Angular cheilitis, Acantholysis, Pruritus, Punctate palmoplantar hyperkerat...	OMIM:616295
Lymphatic Malformation 3	Recurrent skin infections, Lymphedema	OMIM:613480
Deafness, Neural, With Atypical Atopic Dermatitis	Late onset atopic dermatitis, Increased circulating IgE level	OMIM:221700
Palmoplantar Keratoderma And Congenital Alopecia 2	Palmoplantar hyperkeratosis, Facial erythema, Hyperkeratosis, Dry skin, Sclerodactyly	OMIM:212360
Kerion Celsi	Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent skin infec...	ORPHA:499
Ige Responsiveness, Atopic	Increased circulating IgE level, Eczema	OMIM:147050
Peeling Skin Syndrome 3	Pruritus, Erythema, White scaling skin	OMIM:616265
Elastosis Perforans Serpiginosa	Hyperkeratotic papule, Epidermal acanthosis, Crusting erythematous dermatitis, Cutis laxa	ORPHA:79148
Atrophoderma Vermiculata	Pruritus, Abnormal epidermal morphology, Erythema, Follicular hyperkeratosis, Hyperkeratotic papule	ORPHA:79100
Classic Mycosis Fungoides	Skin rash, Eczema, Pruritus, Erythema, Skin ulcer, Hyperkeratosis, Dry skin	ORPHA:2584
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Osteomyelitis, Recurrent skin infections, Eczema, Pruritus, Increased circulating IgE level, Recu...	OMIM:618282
Immunodeficiency 24	Decreased circulating IgG level, Defective T cell proliferation, Reduced antigen-specific T cell ...	OMIM:615897
Aicardi-Goutieres Syndrome 5	Scaling skin, Dry skin, Chilblains, Increased circulating interferon-gamma concentration	OMIM:612952
Vulvovaginal Gingival Syndrome	Ridged nail, Parakeratosis, Epidermal acanthosis, Pruritus, Erythema, Abnormality of tumor necros...	ORPHA:83453
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Riddle Syndrome	Decreased circulating IgG level, Dry skin	OMIM:611943
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection	Chronic furunculosis, Cutaneous abscess	OMIM:619986
Netherton Syndrome	Hypernatremic dehydration, Sparse scalp hair, Parakeratosis, Brittle hair, Recurrent skin infecti...	OMIM:256500
Seborrhea-Like Dermatitis With Psoriasiform Elements	Hyperkeratosis, Epidermal acanthosis, Seborrheic dermatitis	OMIM:610227
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level	OMIM:235550
Porokeratosis 7, Multiple Types	Parakeratosis, Porokeratosis	OMIM:614714
Porokeratosis 1, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175800
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Orthokeratosis, Subungual hyperkeratosis, Eczema, Acne inversa	OMIM:617337
Erythroderma, Lethal Congenital	Congenital exfoliative erythroderma	OMIM:227090
Immunoerythromyeloid Hypoplasia	Decreased circulating IgG level	OMIM:242880
Acral Self-Healing Collodion Baby	Edema of the dorsum of feet, Edema of the dorsum of hands, Erythema, Lack of skin elasticity, Pal...	ORPHA:281127
Hyperkeratosis-Hyperpigmentation Syndrome	Hyperkeratosis	ORPHA:1336
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Genital edema, Eczema, Abnormal immunoglobulin level, Increased circulating IgE level, Pedal edem...	ORPHA:98813
Erythema Nodosum, Familial	Erythema nodosum	OMIM:132990
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgG level, Increased circulating IgE level, Molluscum contagiosum	OMIM:618982
Pruritic Urticarial Papules And Plaques Of Pregnancy	Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Facial erythema, Pruritis on hand...	ORPHA:64745
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent bacterial skin infections, Pneumonia, Increased circulating IgE level, Atopic dermatiti...	ORPHA:217390
Odontoonychodermal Dysplasia	Ridged nail, Dry hair, Palmoplantar hyperkeratosis, Dystrophic fingernails, Thin nail, Sparse eye...	OMIM:257980
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Perifolliculitis	OMIM:260910
Chronic Actinic Dermatitis	Late onset atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Erythroderma	ORPHA:330064
Ichthyosis, Congenital, Autosomal Recessive 1	Parakeratosis, Epidermal acanthosis, Erythroderma, Palmoplantar hyperkeratosis, Congenital ichthy...	OMIM:242300
Immunodeficiency 95	Decreased circulating IgG3 level, Increased circulating IgG3 level	OMIM:619773
Sézary Syndrome	Alopecia, Edema, Abnormal immunoglobulin level, Pruritus, Palmoplantar keratoderma, Nail dystroph...	ORPHA:3162
Inflammatory Skin And Bowel Disease, Neonatal, 1	Perianal erythema, Pustule, Paronychia, Increased circulating IgE level, Perioral erythema, Eryth...	OMIM:614328
Lamellar Ichthyosis	Pruritus, Lack of skin elasticity, Dehydration, Hyperkeratosis, Ichthyosis, Erythroderma, Chronic...	ORPHA:313
Bullous Diffuse Cutaneous Mastocytosis	Pruritus, Erythroderma	ORPHA:280785
Erythrokeratoderma ''En Cocardes''	Hyperkeratosis	ORPHA:315
Conductive Deafness-Malformed External Ear Syndrome	Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme...	ORPHA:3216
Graham Little-Piccardi-Lassueur Syndrome	Pruritus, Perifollicular hyperkeratosis	ORPHA:505
Ichthyosis, Hystrix-Like, With Deafness	Erythroderma, Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmo...	OMIM:602540
Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome	Dry skin, Ichthyosis	ORPHA:2271
Histiocytosis, Familial Lipochrome	Increased circulating antibody level	OMIM:235900
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Skin rash, Erythema, Recurrent pneumonia, Increased circulating IgE level, Chronic mucocutaneous ...	OMIM:147060
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Congenital alopecia totalis, Epidermal acanthosis, Sparse eyebrow, Absent pubic hair, Cutis laxa,...	ORPHA:2269
Erythroderma Desquamativum	Seborrheic dermatitis	ORPHA:314
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ...	OMIM:606843
Autoinflammation With Arthritis And Dyskeratosis	Epidermal acanthosis, Increased circulating IgA level, Thyroiditis, Palmoplantar hyperkeratosis, ...	OMIM:617388
Immunodeficiency 11B With Atopic Dermatitis	Decreased circulating total IgM, Increased circulating IgE level, Atopic dermatitis, Disseminated...	OMIM:617638
Superficial Epidermolytic Ichthyosis	Edema, Acantholysis, Erythema, Palmoplantar keratoderma, Thin skin, Ichthyosis	ORPHA:455
Erythrokeratodermia Variabilis	Skin rash, Erythema, Patchy palmoplantar hyperkeratosis, Hyperkeratosis, Dry skin	ORPHA:317
Immunodeficiency, Common Variable, 11	Decreased circulating IgG level, Increased circulating IgE level	OMIM:615767
Immunodeficiency 58	Recurrent cutaneous abscess formation, Molluscum contagiosum, Psoriasiform lesion, Eczema, Allerg...	OMIM:618131
Immunodeficiency 25	Increased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level...	OMIM:610163
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Alopecia, Parakeratosis, Epidermal acanthosis, Sparse eyelashes, Thick hair, Pruritus, Sparse eye...	OMIM:607626
Acute Generalized Exanthematous Pustulosis	Predominantly dermal neutrophilic infiltrate, Acantholysis, Pruritus, Pustule, Facial edema, Chei...	ORPHA:293173
Sjögren-Larsson Syndrome	Erythema, Hyperkeratosis, Ichthyosis, Dry skin, Inflammatory abnormality of the eye	ORPHA:816
Non-Epidermolytic Palmoplantar Keratoderma	Pruritus, Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer	ORPHA:2337
Recessive X-Linked Ichthyosis	Hyperkeratosis, Dry skin, Ichthyosis	ORPHA:461
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Parakeratosis, Posterior blepharitis, Palmoplantar hyperkeratosis, Hype...	OMIM:300918
Amyloidosis, Primary Localized Cutaneous, 1	Pruritus, Dry skin, Scaling skin	OMIM:105250
Insulin-Resistance Syndrome Type A	Hyperkeratosis	ORPHA:2297
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma	Parakeratosis, Linear arrays of macular hyperkeratoses in flexural areas, Honeycomb palmoplantar ...	OMIM:601952
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Eczema, Increased circulating IgE level, Increased circulating IgM level, Reduced antigen-specifi...	OMIM:617241
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati...	OMIM:619632
Trichothiodystrophy 7, Nonphotosensitive	Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkeratosis, Ichthyosis	OMIM:618546
Huriez Syndrome	Dry skin, Palmoplantar keratoderma, Lack of skin elasticity, Sclerodactyly	ORPHA:384
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Erythema, Hyperkeratosis, Scaling skin, Congenital nonbullous ichthyosiform erythroderma, Ichthyo...	OMIM:614457
Immunodeficiency 103, Susceptibility To Fungal Infections	Deep dermatophytosis, Increased circulating IgE level, Chronic oral candidiasis	OMIM:212050
White Sponge Nevus 2	Hyperparakeratosis, Epidermal acanthosis, Edema	OMIM:615785
Congenital Lethal Erythroderma	Congenital exfoliative erythroderma, Dry skin, Hypoalbuminemia, Ichthyosis	ORPHA:1954
Epidermolytic Palmoplantar Keratoderma	Epidermal acanthosis, Hypergranulosis, Epidermal hyperkeratosis, Diffuse palmoplantar hyperkerato...	ORPHA:2199
Schopf-Schulz-Passarge Syndrome	Ridged nail, Narrow nail, Thin nail, Poroma, Hyperkeratosis, Palmoplantar keratoderma, Onycholysi...	OMIM:224750
Infantile Digital Fibromatosis	Hyperkeratosis, Parakeratosis, Epidermal acanthosis	ORPHA:199267
Congenital Disorder Of Glycosylation, Type If	Hyperkeratosis, Dry skin, Scaling skin, Erythroderma	OMIM:609180
Coxoauricular Syndrome	Microtia, Hearing impairment	OMIM:122780
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Keratitis, Facial erythema, Folliculitis, Palmoplantar keratoderma, Conjunctivitis, Follicular hy...	OMIM:308800
Bone Marrow Failure Syndrome 4	Dry skin, Eczema, Bone marrow hypocellularity, Decreased circulating antibody level	OMIM:618116
Hyperkeratosis Lenticularis Perstans	Pruritus, Hyperkeratosis lenticularis perstans, Skin ulcer	ORPHA:409
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Alopecia, Psoriasiform lesion, Increased circulating IgA level, Increased circulating IgE level, ...	ORPHA:169154
Cutaneous Mastocytoma	Maculopapular exanthema, Pruritus, Thickened skin, Angioedema, Erythema, Scaling skin, Peau d'orange	ORPHA:79455
Olmsted Syndrome 2	Parakeratosis, Epidermal acanthosis, Pruritus, Perioral hyperkeratosis, Cheilitis, Palmoplantar h...	OMIM:619208
Lupus Erythematosus Tumidus	Deep dermal perivascular inflammatory infiltrate, Scaling skin	ORPHA:90283
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Decreased circulating IgG level	OMIM:242870
Amyloidosis, Primary Localized Cutaneous, 3	Pruritus, Dry skin	OMIM:617920
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level, Eczema	OMIM:618985
Mannose-Binding Lectin Deficiency	Recurrent skin infections	OMIM:614372
Severe Combined Immunodeficiency, X-Linked	Skin rash, Reduced natural killer cell activity, Agammaglobulinemia, Decreased circulating total ...	OMIM:300400
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Abnormality of humoral immunity, Inflammatory abnormality of the skin, Increased circulating IgE ...	ORPHA:277
Candidiasis, Familial, 8	Chronic oral candidiasis, Blepharitis, Cheilitis, Seborrheic dermatitis	OMIM:615527
Focal Palmoplantar And Gingival Keratoderma	Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkeratosis, Gingival hyperkerat...	ORPHA:2200
Lichen Planus Pemphigoides	Pruritus, Hyperkeratosis, Conjunctivitis, Skin vesicle, Blepharitis	ORPHA:254478
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Pruritus, Hyperkeratosis, Plantar hyperkeratosis, Palmar hyperkeratosis	ORPHA:79399
Subacute Cutaneous Lupus Erythematosus	Psoriasiform lesion, Discoid lupus rash, Cheilitis, Hyperkeratosis, Malar rash	ORPHA:163525
Iga Pemphigus	Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Increased circula...	ORPHA:555905
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Congenital onychodystrophy, Eczema, Absent eyelashes, Gen...	ORPHA:2890
Parana Hard Skin Syndrome	Hyperkeratosis, Thickened skin	ORPHA:2812
Immunodeficiency, Common Variable, 5	Chronic decreased circulating total IgG	OMIM:613495
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Eczema, Pruritus, Palmoplantar keratoderma, Dry skin, Blepharitis	OMIM:618535
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Kimura Disease	Increased circulating IgE level	ORPHA:482
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Increased circulating IgG level, Increased circulating IgM level	OMIM:619220
Anonychia With Flexural Pigmentation	Hyperkeratosis, Follicular hyperkeratosis	ORPHA:69125
Porokeratosis 3, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175900
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level	OMIM:619549
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Pruritus, Hyperkeratosis, Palmoplantar hyperkeratosis	ORPHA:89838
Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma	Microtia	OMIM:611863
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Increased circulating IgE level, Eczema	OMIM:618523
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Chronic oral candidiasis, Psoriasiform dermatitis, Decreased lymphocyte proliferation in response...	OMIM:606367
Papa Syndrome	Increased inflammatory response, Myositis, Acne, Pustule, Skin ulcer, Arthritis, Increased circul...	ORPHA:69126
Erythema Elevatum Diutinum	Skin rash, Skin vesicle, Increased circulating antibody level	ORPHA:90000
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Recurrent skin infections, Increased circulating IgE level, Atopic dermatitis, Decreased circulat...	OMIM:619752
Neutropenia, Chronic Familial	Increased circulating antibody level	OMIM:162700
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Pruritus, Plantar hyperkeratosis	OMIM:616487
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Skin ulcer, Hyperkeratosis, Interstitial pneumonitis, Scali...	ORPHA:454831
Congenital Ichthyosiform Erythroderma	Pruritus, Keratitis, Ichthyosis, Palmoplantar keratoderma, Erythroderma	ORPHA:79394
Trichothiodystrophy 1, Photosensitive	Brittle hair, Trichoschisis, Dry skin, Fine hair, Hyperkeratosis, Fragile nails, Nail dystrophy, ...	OMIM:601675
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Harlequin Ichthyosis	Dehydration, Hyperkeratosis, Congenital ichthyosiform erythroderma, Ichthyosis, Erythroderma	ORPHA:457
Immunodeficiency With Hyper-Igm, Type 2	Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig...	OMIM:605258
Congenital Disorder Of Glycosylation, Type Iq	Eczema, Cutis laxa, Hyperkeratosis, Ichthyosis, Dry skin	OMIM:612379
Ectodermal Dysplasia/Skin Fragility Syndrome	Absent eyebrow, Absent eyelashes, Palmoplantar hyperkeratosis, Scaling skin, Nail dystrophy, Spar...	OMIM:604536
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Follicular hyperkeratosis	OMIM:277350
Hypotrichosis 6	Pruritus, Erythema, Follicular hyperkeratosis	OMIM:607903
Grubben-De Cock-Borghgraef Syndrome	Dry skin, Eczema	ORPHA:2101
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Eczema, Eosinophilic infiltration of the esophagus, Increased circulating IgE level, Recurrent pn...	OMIM:243700
Peeling Skin Syndrome 2	Erythema, Scaling skin	OMIM:609796
Microcephaly 6, Primary, Autosomal Recessive	Microtia	OMIM:608393
Autosomal Dominant Hyper-Ige Syndrome	Skin rash, Eczema, Pruritus, Abnormal hair morphology, Paronychia, Increased circulating IgE leve...	ORPHA:2314
Lipoid Proteinosis Of Urbach And Wiethe	Hyperkeratosis, Thickened skin, Reduced epidermal extracellular matrix protein 1 protein expression	OMIM:247100
Psoriasis 14, Pustular	Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Cholangitis, Elevated circulating C...	OMIM:614204
Lymphoma, Hodgkin, Classic	Polyclonal elevation of IgM	OMIM:236000
Phenylketonuria	Scleroderma, Dry skin, Eczema	OMIM:261600
Angioma Serpiginosum, X-Linked	Hyperkeratosis	OMIM:300652
Immunodeficiency, Common Variable, 4	Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ...	OMIM:613494
Trichodysplasia-Xeroderma Syndrome	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod...	ORPHA:3361
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Neonatal death, Microtia	OMIM:612138
Dracunculiasis	Recurrent cutaneous abscess formation, Skin rash, Pruritus, Skin ulcer, Arthritis	ORPHA:231
Anonychia With Flexural Pigmentation	Dry skin	OMIM:106750
Immunodeficiency 15A	Chronic mucocutaneous candidiasis, Recurrent sinusitis, Recurrent otitis media, Acne inversa, Cut...	OMIM:618204
Familial Benign Chronic Pemphigus	Skin vesicle, Hyperkeratosis, Erythema, Acantholysis	ORPHA:2841
Chilblain Lupus 1	Chilblains, Skin ulcer	OMIM:610448
Tooth Agenesis, Selective, 8	Dry skin	OMIM:617073
Immunodeficiency With Hyper-Igm, Type 5	Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb...	OMIM:608106
Congenital Disorder Of Glycosylation, Type Im	Inflammatory abnormality of the skin, Increased circulating free fatty acid level, Hyperkeratosis...	OMIM:610768
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Parakeratosis, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis	OMIM:615821
Immunodeficiency 64 With Lymphoproliferation	Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level...	OMIM:618534
Centrifugal Lipodystrophy	Lymphadenitis, Inflammatory abnormality of the skin, Erythema, Scaling skin	ORPHA:90156
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Epidermal acanthosis, Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis...	OMIM:148700
Keratolytic Winter Erythema	Pustule	ORPHA:50943
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Dry skin, Follicular hyperkeratosis	OMIM:617066
Caspase 8 Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:607271
Immunodeficiency, Common Variable, 7	Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic partially decreas...	OMIM:614699
Immunodeficiency 44	Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level	OMIM:616636
Meier-Gorlin Syndrome 8	Microtia, Low-set ears	OMIM:617564
Ichthyosis, Congenital, Autosomal Recessive 12	White scaling skin	OMIM:617320
Meige Disease	Recurrent bacterial skin infections, Predominantly lower limb lymphedema, Recurrent skin infectio...	ORPHA:90186
Diffuse Cutaneous Mastocytosis	Pruritus, Thickened skin, Scaling skin, Erythroderma, Peau d'orange	ORPHA:79456
Darier Disease	Acrokeratosis, Pruritus, Thickened skin, Palmoplantar keratoderma, Skin vesicle, Subungual hyperk...	ORPHA:218
Microtia, Hearing Impairment, And Cleft Palate	Increased incisura length, Mixed hearing impairment, Overfolded helix, Microtia, Stenosis of the ...	OMIM:612290
Tylosis With Esophageal Cancer	Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis	OMIM:148500
Hidrotic Ectodermal Dysplasia	Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p...	ORPHA:189
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Increased circulating IgG level, Ichthyosis	OMIM:618495
Punctate Palmoplantar Keratoderma Type 1	Epidermal acanthosis, Hypergranulosis, Abnormal epidermal morphology, Palmoplantar hyperkeratosis...	ORPHA:79501
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Pneumonia, Recurrent pneumonia, Hepatitis, Erythroderma, Increased circ...	ORPHA:169160
Mental Retardation And Psoriasis	Psoriasiform dermatitis	OMIM:309480
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Comedonal acne, Decreased retinol-binding protein level, Follicular hyperkeratosis	OMIM:615147
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Maculopapular exanthema,...	ORPHA:540
Proteasome-Associated Autoinflammatory Syndrome 2	Skin rash, Neutrophilic infiltration of the skin, Increased circulating IgA level, Periorbital ed...	OMIM:618048
Boutonneuse Fever	Skin rash, Maculopapular exanthema, Increased circulating IgG level, Increased circulating IgM le...	ORPHA:83313
Thyrotropin-Releasing Hormone Deficiency	Dry skin	OMIM:275120
Tempi Syndrome	Increased circulating IgG level, Ascites, Transudative pleural effusion, Facial erythema	ORPHA:284227
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyelashes, Edema, Acantholysis, Sparse eyebrow, Woolly hair, Palmoplantar hyperk...	OMIM:605676
Atelis Syndrome 1	Eczema, Dry skin, Bronchiectasis, Decreased lymphocyte proliferation in response to anti-CD3	OMIM:620184
Kid Syndrome	Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit...	ORPHA:477
Quinquaud Folliculitis Decalvans	Pustule, Recurrent skin infections	ORPHA:346
Acrokeratosis Verruciformis Of Hopf	Parakeratosis, Epidermal acanthosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperke...	ORPHA:79151
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM	OMIM:153600
Night Blindness, Congenital Stationary, Type 1C	Dry skin	OMIM:613216
Reticular Dysgenesis	Chronic otitis media, Skin rash, Skin ulcer, Decreased circulating antibody level	ORPHA:33355
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Parakeratosis, Pruritus, Palmoplantar hyperkeratosis, Erythema migrans, Skin vesicle	ORPHA:158681
Lymphangiectasia, Intestinal	Abnormal hair morphology, Decreased circulating IgG level, Edema, Pedal edema	OMIM:152800
X-Linked Intellectual Disability-Seizures-Psoriasis Syndrome	Psoriasiform dermatitis, Ichthyosis	ORPHA:3052
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Psoriasiform lesion, Pneumonia, Erythema nodosum, Recurrent pneumonia, Bronch...	OMIM:614700
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Parakeratosis, Epidermal acanthosis, Hyperkeratosis, Ichthyosis, Acanthosis nigricans, Dry skin	OMIM:618527
Lichen Planopilaris	Pruritus, Hyperkeratosis, Hepatitis, Skin ulcer	ORPHA:525
Igg4-Related Aortitis	Complement deficiency, Increased circulating IgE level, Increased circulating antibody level, Inc...	ORPHA:449400
Craniosynostosis-Mental Retardation-Clefting Syndrome	Dry skin	OMIM:218650
Pyoderma Gangrenosum	Myositis, Pustule, Skin ulcer, Inflammation of the large intestine, Increased circulating antibod...	ORPHA:48104
Epidermodysplasia Verruciformis	Pustule, Recurrent skin infections, Seborrheic dermatitis	ORPHA:302
Immunodeficiency 66	Pustule, Recurrent skin infections	OMIM:618847
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Synophrys, Decreased circulating total IgM, Decreased circulating IgG level, Hirsutism, Decreased...	OMIM:300861
Panniculitis-Induced Localized Lipodystrophy	Inflammatory abnormality of the skin, Erythema, Abnormal immunoglobulin level	ORPHA:90159
Inflammatory Bowel Disease 28, Autosomal Recessive	Perianal abscess, Enterocolitis, Folliculitis, Pyoderma, Colitis, Crohn's disease	OMIM:613148
Sting-Associated Vasculopathy, Infantile-Onset	Nailfold capillary tortuosity, Skin rash, Increased circulating IgA level, Pustule, Erythema, Inc...	OMIM:615934
Agammaglobulinemia 8B, Autosomal Recessive	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgE, Partial absence o...	OMIM:619824
Ectodermal Dysplasia-Syndactyly Syndrome 2	Macrotia, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ichthyosiform e...	OMIM:613576
Uv-Sensitive Syndrome 3	Dry skin	OMIM:614640
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Recurrent skin infections, Recurrent pneumonia, Pyoderma gangrenosum, Bronchi...	OMIM:616576
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Dry skin, Follicular hyperkeratosis	ORPHA:486815
Darier-White Disease	Pruritus, Acrokeratosis, Subungual hyperkeratotic fragments, Acantholysis	OMIM:124200
Mpdu1-Cdg	Scaling skin, Eczema, Elevated circulating creatine kinase concentration, Ichthyosis	ORPHA:79323
Ataxia-Photosensitivity-Short Stature Syndrome	Dry skin	ORPHA:1184
Immunodeficiency 53	Recurrent otitis media, Recurrent pneumonia, Skin rash	OMIM:617585
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Insulin Autoimmune Syndrome	Acanthosis nigricans, Increased circulating antibody level	ORPHA:411593
Prolidase Deficiency	Pruritus, Erythema, Crusting erythematous dermatitis, Skin ulcer, Hyperkeratosis, Palmoplantar ke...	ORPHA:742
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m...	ORPHA:248
Leopard Syndrome 3	Posteriorly rotated ears, Epidermal hyperkeratosis, Sensorineural hearing impairment, Hyperkerato...	OMIM:613707
Erosive Pustular Dermatosis Of The Scalp	Pustule	ORPHA:222
Complement Component 5 Deficiency	Generalized seborrheic dermatitis	OMIM:609536
Irida Syndrome	Hyperkeratosis, Pallor, Ichthyosis	ORPHA:209981
Pgm3-Cdg	Membranoproliferative glomerulonephritis, Osteomyelitis, Eczema, Allergic rhinitis, Increased cir...	ORPHA:443811
Dermoodontodysplasia	Dry skin, Nail dysplasia, Trichodysplasia	OMIM:125640
Immunodeficiency 23	Membranoproliferative glomerulonephritis, Eczema, Allergic rhinitis, Erythema, Increased circulat...	OMIM:615816
Agammaglobulinemia 10, Autosomal Dominant	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c...	OMIM:619707
Congenital Disorder Of Glycosylation, Type Iil	Impaired T cell function, Decreased specific anti-polysaccharide antibody level, Hyperkeratosis, ...	OMIM:614576
Uv-Sensitive Syndrome 1	Dry skin	OMIM:600630
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair, Dry skin	OMIM:129490
Lymphatic Malformation 4	Hyperkeratosis, Pedal edema, Lymphedema	OMIM:615907
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome	Microtia	ORPHA:139450
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level...	OMIM:601859
Agammaglobulinemia 4, Autosomal Recessive	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c...	OMIM:613502
Rat-Bite Fever	Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca...	ORPHA:31205
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sclerodactyly, Sparse eyebrow, ...	ORPHA:1010
Immunodeficiency 85 And Autoimmunity	Eczema, Oligoarthritis, Decreased circulating total IgM, Decreased circulating IgE, Erythroderma,...	OMIM:619510
Pemphigus Vulgaris	Recurrent cutaneous abscess formation, Acantholysis	ORPHA:704
Mandibulofacial Dysostosis-Microcephaly Syndrome	Absent tragus, Overfolded helix, Abnormal antihelix morphology, Large earlobe, Microtia, Atresia ...	ORPHA:79113
Singleton-Merten Syndrome 2	Hyperkeratosis, Psoriasiform lesion	OMIM:616298
Bullous Impetigo	Pustule, Recurrent bacterial skin infections, Septic arthritis	ORPHA:36237
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay	Microtia	OMIM:618158
Dermatofibrosarcoma Protuberans	Thickened skin, Erythema, Skin ulcer	ORPHA:31112
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Palmoplantar keratoderma, Scaling skin, Dry skin	OMIM:618373
Idiopathic Chronic Eosinophilic Pneumonia	Pleural effusion, Increased circulating IgE level, Atopic dermatitis	ORPHA:2902
Omenn Syndrome	Pneumonia, Edema, Pruritus, Thickened skin, Thyroiditis, Erythroderma, Dry skin	ORPHA:39041
Immunodeficiency, Common Variable, 14	Psoriasiform dermatitis, Decreased circulating total IgM, Decreased specific antibody response to...	OMIM:617765
Spinocerebellar Ataxia 34	Erythroderma, Epidermal hyperkeratosis	OMIM:133190
Neuropathy, Hereditary Sensory, Type If	Hyperkeratosis, Osteomyelitis	OMIM:615632
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Recurrent bacterial skin infections, Skin rash, Abnormal immunoglobulin level, Recurrent cutaneou...	ORPHA:276
Branchiootic Syndrome 1	Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea...	OMIM:602588
Immunodeficiency 67	Increased circulating IgE level	OMIM:607676
Dowling-Degos Disease	Pruritus, Hyperkeratosis, Arthritis, Skin vesicle, Hyperkeratotic papule, Acne inversa	ORPHA:79145
Urban-Rogers-Meyer Syndrome	Increased circulating IgE level	ORPHA:3409
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia, Increased circulating IgE level, Eczema, Erythroderma	OMIM:304790
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level	OMIM:233650
Immunodeficiency, Common Variable, 3	Decreased circulating total IgM, Reduced isohemagglutinin level, Chronic decreased circulating to...	OMIM:613493
Agammaglobulinemia 9, Autosomal Recessive	Eczematoid dermatitis, Seborrheic dermatitis	OMIM:619693
Ichthyosis, Congenital, Autosomal Recessive 3	Erythema, Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythrode...	OMIM:606545
Thrombocytopenia 1	Increased circulating IgE level, Eczema, Petechiae, Increased circulating IgA level	OMIM:313900
Bacterial Toxic-Shock Syndrome	Fasciitis, Sinusitis, Skin rash, Elevated circulating creatine kinase concentration, Recurrent sk...	ORPHA:36234
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Increased circulating antibody level	OMIM:247800
Graft Versus Host Disease	Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ga...	ORPHA:39812
Immunodeficiency 61	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased ...	OMIM:300310
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Lymp...	OMIM:300291
Xeroderma Pigmentosum Variant	Keratitis, Dry skin	ORPHA:90342
Uremic Pruritus	Inflammatory abnormality of the skin, Recurrent skin infections, Pruritus, Dry skin, Abnormality ...	ORPHA:94059
Autoimmune Lymphoproliferative Syndrome, Type Iia	Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level...	OMIM:603909
Amelo-Onycho-Hypohidrotic Syndrome	Hyperkeratosis, Dry skin	ORPHA:1028
Whim Syndrome 1	Decreased circulating IgG level, Decreased circulating antibody level	OMIM:193670
Immunodeficiency 27A	Increased circulating IgG level, Increased circulating IgM level	OMIM:209950
Combined Immunodeficiency, X-Linked	Decreased circulating IgG level	OMIM:312863
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia	Conductive hearing impairment, Microtia	OMIM:248910
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Parakeratosis, Alopecia, Epidermal acanthosis, Erythema, Hyperkeratosis, Congenital ichthyosiform...	OMIM:308050
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Recurrent skin infections, Pruritus, Recurrent pneumonia, Cheilitis, Palmoplantar ke...	ORPHA:158668
Immunodeficiency 62	Decreased circulating IgG level, Decreased circulating total IgM, Reduced isohemagglutinin level,...	OMIM:618459
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:618987
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse	Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal acanthosis	OMIM:615735
Transcobalamin Deficiency	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	ORPHA:859
Acrocephalopolydactyly	Microtia	ORPHA:221054
Hereditary Sensory And Autonomic Neuropathy Type 1	Hyperkeratosis, Osteomyelitis, Penetrating foot ulcers, Skin ulcer	ORPHA:36386
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Decreased circulating ceruloplasmin concentration, Ichthyosis, Palmoplantar keratoderma, Hypoalbu...	OMIM:242150
Wilson-Turner Syndrome	Microtia, Uplifted earlobe	ORPHA:3459
Alopecia-Intellectual Disability Syndrome 4	Erythroderma	OMIM:618840
Necrobiosis Lipoidica	Inflammatory abnormality of the skin, Erythema, Abnormality of neutrophil physiology, Skin ulcer	ORPHA:542592
Dermoodontodysplasia	Sparse scalp hair, Fingernail dysplasia, Trichodysplasia, Dry skin, Toenail dysplasia, Sparse bod...	ORPHA:1660
Immunodeficiency 109 With Lymphoproliferation	Decreased specific pneumococcal antibody level, Decreased circulating IgG level, Complete or near...	OMIM:620282
Microtia	Abnormal pinna morphology, Anotia, Microtia, Atresia of the external auditory canal, Hypoplastic ...	ORPHA:83463
Myeloma, Multiple	Paraproteinemia	OMIM:254500
3-Hydroxyisobutyric Aciduria	Microtia	ORPHA:939
Immunodeficiency 70	Decreased circulating total IgG, Furuncle, Decreased circulating antibody level, Decreased circul...	OMIM:618969
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Increased circulating IgM level, Decreased circulating IgG2 level, Decreased specific pneumococca...	OMIM:615513
Proteasome-Associated Autoinflammatory Syndrome 5	Skin rash	OMIM:619175
Immunoneurologic Disorder, X-Linked	Decreased circulating IgG2 level	OMIM:300076
Moynahan Syndrome	Hyperkeratosis, Sensorineural hearing impairment	ORPHA:2574
Immunodeficiency 50	Eczema	OMIM:300988
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteomyelitis, Epidermal acanthosis, Skin rash, Elevated circulating C-reactive protein concentra...	OMIM:612852
Immunodeficiency 104	Pneumonia, Eczema, Chronic mucocutaneous candidiasis, Otitis media, Recurrent otitis media	OMIM:608971
Trichothiodystrophy 6, Nonphotosensitive	Brittle hair, Slow-growing hair, Ichthyosis, Tiger tail banding, Dry skin	OMIM:616943
Ichthyosis, Congenital, Autosomal Recessive 2	Epidermal acanthosis, Hypergranulosis, Erythema, Hyperkeratosis, Congenital ichthyosiform erythro...	OMIM:242100
Immunodeficiency 105	Skin rash, Decreased circulating antibody level, Decreased circulating total IgM, Decreased circu...	OMIM:619924
Milroy Disease	Predominantly lower limb lymphedema, Lymphedema, Pedal edema, Hyperkeratosis, Erysipelas	ORPHA:79452
Keratoderma Hereditarium Mutilans	Sensorineural hearing impairment, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Ichthyos...	ORPHA:494
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level	ORPHA:206594
Elastoderma	Erysipelas, Eczema	ORPHA:228240
Riddle Syndrome	Pneumonia, Erythema, Recurrent pneumonia, Decreased circulating total IgM, Arthritis, Scaling ski...	ORPHA:420741
Mosaic Trisomy 14	Low-set, posteriorly rotated ears, Microtia	ORPHA:1703
Neonatal Inflammatory Skin And Bowel Disease	Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Erythema, Sca...	ORPHA:294023
Angiostrongyliasis	Increased circulating IgA level, Pruritus, Increased circulating specific IgE antibody, Increased...	ORPHA:74
Coxoauricular Syndrome	Microtia, Atresia of the external auditory canal, Hearing impairment	ORPHA:1508
Immunodeficiency With Hyper-Igm, Type 1	Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circulating IgA level, Im...	OMIM:308230
Immunodeficiency 60 And Autoimmunity	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgE, Decr...	OMIM:618394
Drug Reaction With Eosinophilia And Systemic Symptoms	Skin rash, Pustule, Myocarditis, Angioedema, Erythema, Hepatitis, Thyroiditis, Tubulointerstitial...	ORPHA:139402
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Skin ulcer, Arthritis, Ot...	ORPHA:229717
Mednik Syndrome	Hyperkeratosis, Decreased circulating ceruloplasmin concentration, Ichthyosis	ORPHA:171851
Agammaglobulinemia 6, Autosomal Recessive	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c...	OMIM:612692
Hypohidrotic Ectodermal Dysplasia	Sinusitis, Eczema, Hyperkeratosis, Keratoconjunctivitis sicca, Dry skin, Inflammatory abnormality...	ORPHA:238468
Menke-Hennekam Syndrome 1	Short ear, Prominent inferior crus of antihelix, Protruding ear, Low-set ears, Overfolded helix, ...	OMIM:618332
Psoriasis-Related Juvenile Idiopathic Arthritis	Anterior uveitis, Psoriasiform dermatitis, Psoriasiform lesion, Skin rash, Pruritus, Iridocycliti...	ORPHA:85436
Immunodeficiency, Common Variable, 6	Complete or near-complete absence of specific antibody response to tetanus vaccine, Chronic decre...	OMIM:613496
Hemifacial Atrophy, Progressive	Microtia	OMIM:141300
X-Linked Dominant Chondrodysplasia Punctata	Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Ichthyosis, ...	ORPHA:35173
Hydroa Vacciniforme	Superficial dermal perivascular inflammatory infiltrate, Eczema, Keratitis, Malar rash, Papuloves...	ORPHA:330058
Pressure-Induced Localized Lipoatrophy	Inflammatory abnormality of the skin	ORPHA:90160
Subcorneal Pustular Dermatosis	Pruritus, Erythema, Pustule, Increased circulating antibody level	ORPHA:48377
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Acanthosis nigricans, Dry skin	ORPHA:3085
X-Linked Immunoneurologic Disorder	Decreased circulating IgG2 level	ORPHA:2571
Rothmund-Thomson Syndrome, Type 1	Recurrent otitis media, Hyperkeratosis	OMIM:618625
Short Stature And Facioauriculothoracic Malformations	Overfolded helix, Cupped ear, Microtia, Low-set ears	OMIM:609654
Mycosis Fungoides	Pruritus, Psoriasiform dermatitis, Eczema	OMIM:254400
Hypotrichosis And Recurrent Skin Vesicles	Skin vesicle, Epidermal acanthosis, Angular cheilitis, Follicular hyperkeratosis	OMIM:613102
Microcephalic Primordial Dwarfism, Montreal Type	Abnormal hair quantity, Dry skin, Low posterior hairline, Premature graying of hair, Alopecia of ...	ORPHA:2617
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Recurrent pneumonia, ...	ORPHA:47
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Foot osteomyelitis, Acral ulceration, Skin ulcer	ORPHA:139578
Absence Of Fingerprints-Congenital Milia Syndrome	Thickened skin, Skin rash	ORPHA:1658
Catifa Syndrome	Microtia	OMIM:618761
Ameloonychohypohidrotic Syndrome	Dry skin, Seborrheic dermatitis	OMIM:104570
Interstitial Granulomatous Dermatitis With Arthritis	Pruritus, Inflammatory abnormality of the skin, Rheumatoid arthritis	ORPHA:79099
Proteus Syndrome	Hyperkeratosis, Epidermal acanthosis	OMIM:176920
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Redundant skin, Seborrheic dermatitis, Erythema, Palmoplantar hyperkeratosis, Arthritis, Eczemato...	OMIM:259100
Craniosynostosis, Herrmann-Opitz Type	Abnormal antihelix morphology, Microtia, Webbed neck	ORPHA:2145
Chronic Mucocutaneous Candidiasis	Skin rash, Pruritus, Erythema, Hepatitis, Skin ulcer, Cheilitis, Hyperkeratosis	ORPHA:1334
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Brittle hair, Plantar hyperkeratosis, Epidermal hyperkeratosis, Sparse eyebrow, Leukony...	OMIM:104100
Copper Deficiency, Familial Benign	Seborrheic dermatitis	OMIM:121270
Noonan Syndrome 8	Eczema, Polyhydramnios, Hyperkeratosis, Webbed neck, Palmoplantar cutis laxa, Pleural effusion	OMIM:615355
Hatipoglu Immunodeficiency Syndrome	Eczema, Thickened skin, Atopic dermatitis, Recurrent otitis media, Dry skin, Petechiae	OMIM:620331
Spinocerebellar Ataxia Type 34	Dry skin	ORPHA:1955
Psoriasis 15, Pustular, Susceptibility To	Psoriasiform dermatitis	OMIM:616106
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Alopecia of scalp, Increased circulating IgE level, Panhypogammaglobulinemia	OMIM:602450
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Short ear	ORPHA:314647
Rhizomelic Chondrodysplasia Punctata	Alopecia, Dry skin, Sparse body hair, Ichthyosis	ORPHA:177
Ectodermal Dysplasia With Mental Retardation And Syndactyly	Dry skin	OMIM:600906
Pemphigus Erythematosus	Malar rash, Acantholysis	ORPHA:79480
Pachyonychia Congenita 1	Follicular hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:167200
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Acne, Pyoderma gangrenosum, Sterile arthritis, Arthritis, Colitis, Cystic acne	OMIM:604416
Hemifacial Microsomia With Radial Defects	Conductive hearing impairment, Microtia, Atresia of the external auditory canal	OMIM:141400
Congenital Heart Defects And Ectodermal Dysplasia	Medial flaring of the eyebrow, Sparse scalp hair, High anterior hairline, Dry skin, Fragile nails	OMIM:617364
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Short ear, Posteriorly rotated ears, Low-set ears, Protruding ear	OMIM:614756
6Q16 Microdeletion Syndrome	Microtia, Low-set ears, Abnormal ear morphology	ORPHA:171829
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Thickened skin, Hypoalbuminemia, Acne, Seborrheic dermatitis	OMIM:614441
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Hyperkeratosis, Parakeratosis	OMIM:618339
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	Eczema, Ichthyosis	ORPHA:3055
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Absent specific antibody response, Inflammatory abnormality of the skin, Skin rash, Increased cir...	OMIM:102700
Zechi-Ceide Syndrome	Abnormal earlobe morphology, Microtia, Abnormal helix morphology, Low-set ears, Conductive hearin...	ORPHA:217017
Aspergillosis	Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Increased circulating IgE level, Bronchiectasis, ...	ORPHA:1163
Hypothyroidism, Congenital, Nongoitrous, 6	Dry skin	OMIM:614450
Parenti-Mignot Neurodevelopmental Syndrome	Cupped ear, Microtia, Posteriorly rotated ears, Low-set ears	OMIM:619873
Pellagra-Like Syndrome	Skin rash	OMIM:260650
Beta-Mercaptolactate Cysteine Disulfiduria	Low-set, posteriorly rotated ears, Dry skin, Hypoplasia of the ear cartilage	ORPHA:1035
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Recurrent skin infections, Partial absence of ...	OMIM:301082
Microtia With Meatal Atresia And Conductive Deafness	Anotia, Aplasia/Hypoplasia of the middle ear, Microtia, Conductive hearing impairment	OMIM:251800
Proliferating Trichilemmal Cyst	Skin ulcer	ORPHA:492
Lymphoproliferative Syndrome, X-Linked, 2	Hypertriglyceridemia, Acne, Recurrent skin infections, Erythema nodosum, Hepatitis, Decreased cir...	OMIM:300635
Hypertelorism-Microtia-Facial Clefting Syndrome	Conductive hearing impairment, Microtia, Atresia of the external auditory canal	ORPHA:2213
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome	Hyperkeratotic papule, Palmoplantar keratoderma, Palmoplantar hyperkeratosis	ORPHA:2698
Flynn-Aird Syndrome	Progressive sensorineural hearing impairment, Hyperkeratosis	OMIM:136300
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Increased circulating IgA level	OMIM:314000
20P12.3 Microdeletion Syndrome	Thickened helices, Microtia	ORPHA:261295
Igg4-Related Submandibular Gland Disease	Increased circulating IgG4 level, Facial edema, Periorbital edema, Increased circulating IgE leve...	ORPHA:449432
Congenital Factor Xii Deficiency	Penetrating foot ulcers	ORPHA:330
Immunodeficiency, Common Variable, 2	Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Decreased cir...	OMIM:240500
Chromomycosis	Predominantly lower limb lymphedema, Edema, Lymphedema, Keratitis, Pruritus, Hyperparakeratosis, ...	ORPHA:182
Leishmaniasis	Rhinitis, Increased circulating antibody level, Pallor, Skin ulcer	ORPHA:507
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level	ORPHA:2643
Hypothyroidism, Congenital, Nongoitrous, 4	Dry skin	OMIM:275100
Naegeli-Franceschetti-Jadassohn Syndrome	Subungual hyperkeratosis, Decreased number of sweat glands, Punctate palmoplantar hyperkeratosis,...	ORPHA:69087
Lipoid Proteinosis	Hyperkeratosis, Thickened skin, Pustule, Acne	ORPHA:530
Basan Syndrome	Palmoplantar keratoderma, Epidermal acanthosis	OMIM:129200
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Psoriasiform dermatitis, Osteomyelitis, Eczema, Pneumonia, Recurrent skin infections, G...	ORPHA:37042
Distal Deletion 17Q	Low-set, posteriorly rotated ears, Patent ductus arteriosus, Microtia	ORPHA:1597
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Patent ductus arteriosus, Microtia	ORPHA:2547
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities	Dry skin, Eczema	OMIM:620191
Immunodeficiency 22	Decreased circulating total IgM, Ascites, Decreased circulating IgE, Chronic oral candidiasis, De...	OMIM:615758
Ectodermal Dysplasia And Immunodeficiency 2	Sparse scalp hair, Defective production of NFKB1-dependent cytokines, Aplasia of the sweat glands...	OMIM:612132
Complex Regional Pain Syndrome	Abnormality of hair growth, Edema of the upper limbs, Slow-growing nails, Erythema, Pedal edema, ...	ORPHA:83452
Prolidase Deficiency	Eczema, Recurrent pneumonia, Crusting erythematous dermatitis, Skin ulcer, Increased circulating ...	OMIM:170100
Parietal Foramina With Cleidocranial Dysplasia	Microtia	OMIM:168550
Inflammatory Bowel Disease 25, Autosomal Recessive	Perianal abscess, Folliculitis, Enterocolitis, Pancolitis	OMIM:612567
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Microtia, Low-set ears	ORPHA:357175
Adiposis Dolorosa	Arthritis, Dry skin, Recurrent skin infections	ORPHA:36397
Chanarin-Dorfman Syndrome	Sensorineural hearing impairment, Microtia, Congenital nonbullous ichthyosiform erythroderma	OMIM:275630
Porphyria Cutanea Tarda, Type I	Eczema	OMIM:176090
Mandibulofacial Dysostosis With Alopecia	Cupped ear, Protruding ear, Microtia, Low-set ears, Conductive hearing impairment, Stenosis of th...	OMIM:616367
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Perianal erythema, Impaired T cell function, Paronychia, Alopecia of scalp, Perioral erythema, Dr...	OMIM:201100
Paganini-Miozzo Syndrome	Microtia, Posteriorly rotated ears, Low-set ears	OMIM:301025
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Low-set, posteriorly rotated ears, Microtia	ORPHA:2994
Familial Keratoacanthoma	Hyperkeratosis, Skin ulcer	ORPHA:493
Gaucher Disease, Perinatal Lethal	Hyperkeratosis, Microtia, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis, Neonatal ...	OMIM:608013
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating total IgM, Decreased circulating IgG level, Recurrent skin infections	OMIM:620210
Zinc Deficiency, Transient Neonatal	Eczema	OMIM:608118
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Conductive hearing impairment, Microtia, Atresia of the external auditory canal	OMIM:300946
Weiss-Kruszka Syndrome	Hearing impairment, Cupped ear, Protruding ear, Microtia, Low-set ears, Overfolded helix, Horizon...	OMIM:618619
Ectodermal Dysplasia/Short Stature Syndrome	Hyperkeratosis, Palmoplantar keratoderma, Epidermal acanthosis	OMIM:616029
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Microtia	OMIM:620137
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Patent ductus arteriosus, Microtia, Low-set ears	ORPHA:171839
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:619281
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Perianal abscess, Increased circulating IgE level, Increased circulating IgG level, Defective T c...	OMIM:618213
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:614069
Lymphatic Malformation 12	Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Hyperkeratosis	OMIM:620014
Mu-Heavy Chain Disease	Increased circulating antibody level	ORPHA:100024
Immunodeficiency, Common Variable, 10	Trachyonychia, Psoriasiform dermatitis, Alopecia totalis, Decreased circulating total IgM, Decrea...	OMIM:615577
Intellectual Developmental Disorder, Autosomal Recessive 35	Microtia, Low-set ears	OMIM:615162
Immunodeficiency 55	Dry skin, Recurrent skin infections, Eczema, Ichthyosis	OMIM:617827
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Neonatal death, Microtia	OMIM:619817
Simple Cryoglobulinemia	Viral hepatitis, Purpura, Membranoproliferative glomerulonephritis, Pericarditis, Monoclonal elev...	ORPHA:91139
Interstitial Lung Disease 2	Increased circulating antibody level	OMIM:178500
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:611926
Porphyria Cutanea Tarda	Decreased circulating hepcidin concentration, Recurrent bacterial skin infections, Viral hepatiti...	ORPHA:101330
Thyroid Dyshormonogenesis 1	Dry skin	OMIM:274400
Bare Lymphocyte Syndrome, Type I	Chronic otitis media, Chronic sinusitis, Bronchiectasis, Skin ulcer	OMIM:604571
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Abnormal hair whorl, Synophrys, Low posterior hairline, Nail dystrophy, Dry skin, Hirsutism	OMIM:300860
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Elevated circulating creatine kinase concentration, Follicular hyperkeratosis	ORPHA:300179
Schnitzler Syndrome	Pruritus, Increased circulating IgM level, Skin rash	ORPHA:37748
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Microtia, Posteriorly rotated ears, Low-set ears	OMIM:618089
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Increased circulating antibody level	OMIM:615285
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Acanthosis nigricans, Dry skin	OMIM:268020
Recon Progeroid Syndrome	Keratoconjunctivitis sicca, Dry skin, Scaling skin	OMIM:620370
Ichthyosis, Congenital, Autosomal Recessive 11	Pruritus, Hyperkeratosis, Congenital ichthyosiform erythroderma, Blepharitis	OMIM:602400
Generalized Pustular Psoriasis	Elevated circulating C-reactive protein concentration, Pustule, Cheilitis, Uveitis, Pedal edema, ...	ORPHA:247353
Familial Melanoma	Dry skin	ORPHA:618
Postaxial Acrofacial Dysostosis	Low-set, posteriorly rotated ears, Cupped ear, Microtia, Conductive hearing impairment, Abnormali...	ORPHA:246
Lead Poisoning	Abnormality of humoral immunity, Increased circulating IgE level, Skin rash	ORPHA:330015
Caffey Disease	Increased circulating antibody level	ORPHA:1310
Rapp-Hodgkin Syndrome	Decreased number of sweat glands, Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Spar...	OMIM:129400
Neuropathy, Hereditary Sensory, Type Iic	Acral ulceration	OMIM:614213
Wiskott-Aldrich Syndrome	Eczema, Reduced natural killer cell activity, Increased circulating IgA level, Increased circulat...	OMIM:301000
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h...	ORPHA:573
Isotretinoin Syndrome	Microtia, Abnormality of the outer ear	ORPHA:2305
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Skin rash, Lymphadenitis, Decreased circulating antibody level, Decreased circulating total IgM, ...	ORPHA:331206
Neutrophilic Dermatosis, Acute Febrile	Increased circulating interleukin 6 concentration, Erythema, Pyoderma gangrenosum, Panniculitis, ...	OMIM:608068
Acrodermatitis Enteropathica	Pustule, Erythema, Cheilitis, Skin ulcer, Conjunctivitis, Dry skin, Blepharitis	ORPHA:37
Immunodeficiency, Common Variable, 1	Decreased circulating total IgM, Decreased circulating IgG level, Impaired T cell function, Decre...	OMIM:607594
Palmoplantar Carcinoma, Multiple Self-Healing	Parakeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Chronic rhinitis, Follicular hyper...	OMIM:615225
Poikiloderma With Neutropenia	Plantar hyperkeratosis, Skin rash, Elevated circulating creatine kinase concentration, Edema, Rec...	OMIM:604173
Trichothiodystrophy	Ridged nail, Congenital exfoliative erythroderma, Sparse scalp hair, Brittle hair, Split nail, Ec...	ORPHA:33364
Ramon Syndrome	Conductive hearing impairment, Hyperkeratosis, Sensorineural hearing impairment	ORPHA:3019
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Microtia, Hearing impairment	OMIM:616006
Autoimmune Hepatitis	Increased circulating IgG level, Ascites, Increased circulating antibody level	ORPHA:2137
Tangier Disease	Hypertriglyceridemia, Dry skin	OMIM:205400
Cardiofaciocutaneous Syndrome	Brittle hair, Slow-growing hair, Redundant skin, Lymphedema, Abnormal eyelash morphology, Low pos...	ORPHA:1340
Peroxisome Biogenesis Disorder 14B	Dry skin	OMIM:614920
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgA level, Increased circulating IgE level, Decreased specific anti-polysac...	ORPHA:3261
Oculoauriculofrontonasal Syndrome	Conductive hearing impairment, Microtia	ORPHA:398156
Protoporphyria, Erythropoietic, 1	Pruritus, Eczema, Edema	OMIM:177000
Treacher Collins Syndrome 3	Conductive hearing impairment, Microtia	OMIM:248390
Noonan Syndrome 5	Curly hair, Polyhydramnios, Sparse eyebrow, Fine hair, Small nail, Dry skin	OMIM:611553
Trichinellosis	Skin rash, Edema, Facial edema, Periorbital edema, Increased circulating IgE level	ORPHA:863
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Increased circulating antibody level	OMIM:202700
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Acanthosis nigricans, Dry skin	OMIM:262190
Immunodeficiency 96	Eczema, Decreased circulating total IgM, Defective T cell proliferation, Decreased circulating Ig...	OMIM:619774
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies	Microtia, Low-set ears, Hearing impairment	OMIM:619056
Ddost-Cdg	Dry skin	ORPHA:300536
Leopard Syndrome 2	Dry skin	OMIM:611554
Hydroxykynureninuria	Stomatitis, Dry skin	ORPHA:79155
Microtia-Anotia	Anotia, Microtia	OMIM:600674
Distal Duplication 6P	Abnormal eyelash morphology, Dry skin, Fine hair, Abnormal hair quantity	ORPHA:1745
Squalene Synthase Deficiency	Dry skin, Hypocholesterolemia	OMIM:618156
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	Acne, Seborrheic dermatitis	OMIM:167100
Verloove Vanhorick-Brubakk Syndrome	Microtia, Atresia of the external auditory canal, Low-set ears	ORPHA:3429
Camptodactyly Syndrome, Guadalajara Type 1	Attached earlobe, Microtia, Low-set, posteriorly rotated ears	ORPHA:1327
Isotretinoin Embryopathy-Like Syndrome	Anotia, Microtia	OMIM:243440
Radio-Tartaglia Syndrome	Thick eyebrow, Highly arched eyebrow, Long eyebrows, Synophrys, Low anterior hairline, Hirsutism,...	OMIM:619312
Nabais Sa-De Vries Syndrome, Type 2	Microtia, Posteriorly rotated ears, Low-set ears, Protruding ear	OMIM:618829
Primary Sjögren Syndrome	Myositis, Chronic active hepatitis, Tubulointerstitial nephritis, Decreased circulating complemen...	ORPHA:289390
Pachydermoperiostosis	Osteomyelitis, Acne, Edema, Seborrheic dermatitis, Thickened skin, Arthritis, Joint swelling, Pal...	ORPHA:2796
Humeroradial Synostosis	Small earlobe, Microtia	OMIM:236400
Wiskott-Aldrich Syndrome 2	Eczema	OMIM:614493
Buerger Disease	Skin ulcer	ORPHA:36258
Juvenile Arthritis	Skin rash	OMIM:618795
Congenital Neuronal Ceroid Lipofuscinosis	Low-set ears, Aplasia/Hypoplasia of the external ear	ORPHA:168486
Trichothiodystrophy 3, Photosensitive	Brittle hair, Increased circulating IgA level, Congenital ichthyosiform erythroderma, Congenital ...	OMIM:616395
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Erythema, Thin skin, Palmoplantar hyperkeratosis, Crusting erythematous dermatitis	ORPHA:158673
Ectodermal Dysplasia-Blindness Syndrome	Hyperkeratosis, Skin ulcer, Hearing impairment, Protruding ear	ORPHA:1806
Reynolds Syndrome	Skin rash, Pruritus, Skin ulcer, Arthritis, Keratoconjunctivitis sicca, Infectious encephalitis, ...	ORPHA:779
Hypertelorism, Microtia, Facial Clefting Syndrome	Conductive hearing impairment, Microtia, Atresia of the external auditory canal	OMIM:239800
Pachyonychia Congenita 3	Chapped lip, Plantar hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Palmar ...	OMIM:615726
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Microtia, Sclerodactyly	OMIM:212112
Ras-Associated Autoimmune Leukoproliferative Disorder	Decreased lymphocyte apoptosis, Increased circulating antibody level	OMIM:614470
Hidrotic Ectodermal Dysplasia, Halal Type	Hearing impairment, Follicular hyperkeratosis, Protruding ear	ORPHA:1809
Immunodeficiency 43	Decreased circulating IgG level, Decreased specific antibody response to polysaccharide vaccine, ...	OMIM:241600
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Psoriasiform dermatitis, Eczema, Decreased circulating antibody level, Decreased circulating tota...	OMIM:616100
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Increased circulating interleukin 8 concentration, Hyperkeratosis, Frontal upsweep of hair, Reduc...	OMIM:301220
Vitamin K Antagonist Embryofetopathy	Microtia, Hearing impairment	ORPHA:1914
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Polyhydramnios, Increased circulating IgE level, Decreased circulating antibody level, Decreased ...	ORPHA:508533
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Melanonychia, Edema, Lymphedema, Abnormal eyelash morphology, Abnormal hair morphology, Thickened...	ORPHA:2526
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Absent eyelashes, Xerostomia,...	OMIM:614941
Autoimmune Lymphoproliferative Syndrome, Type Iii	Alopecia, Reduced natural killer cell activity, Absent isohemagglutinin level, Increased circulat...	OMIM:615559
Oculoauriculovertebral Spectrum With Radial Defects	Abnormality of the middle ear ossicles, Sensorineural hearing impairment, Abnormality of the inne...	ORPHA:2549
Adult-Onset Nemaline Myopathy	Paraproteinemia	ORPHA:171442
Even-Plus Syndrome	Microtia	OMIM:616854
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome	Osteomyelitis, Skin ulcer	ORPHA:2218
Bachmann-Bupp Syndrome	Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Polyhydramnios, Small nail, Dry skin	OMIM:619075
Warty Dyskeratoma	Acrokeratosis, Epidermal thickening, Acantholysis	ORPHA:69745
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Ichthyosis follicularis, Subungual hyperkeratosis, Perianal erythema, Eczema, Recurrent skin infe...	OMIM:308205
Cryoglobulinemic Vasculitis	Viral hepatitis, Circulating immune complexes, Skin ulcer, Arthritis, Keratoconjunctivitis sicca,...	ORPHA:91138
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Mixed hearing impairment, Posteriorly rotated ears, Sensorineural hearing impairment, Microtia, S...	OMIM:606164
Difference Of Sex Development-Intellectual Disability Syndrome	Severe sensorineural hearing impairment, Microtia, Low-set, posteriorly rotated ears	ORPHA:2983
Lymphoproliferative Syndrome, X-Linked, 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Decreased circulating antibody level,...	OMIM:308240
Van Den Bosch Syndrome	Recurrent skin infections, Acrokeratosis	ORPHA:3417
Letterer-Siwe Disease	Stomatitis, Pallor, Seborrheic dermatitis	OMIM:246400
Agammaglobulinemia, X-Linked	Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, Bronchiectasis, Agammaglob...	OMIM:300755
Distal Deletion 9P	Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the earlobes, Abnormal antihelix morphol...	ORPHA:1642
Noonan Syndrome 13	Highly arched eyebrow, Lymphedema, Low posterior hairline, Dry skin, Generalized hirsutism, Broad...	OMIM:619087
X-Linked Intellectual Disability, Van Esch Type	Microtia	ORPHA:163976
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hyperkeratosis	OMIM:145250
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Recurrent otitis media, Microtia, Posteriorly rotated ears	OMIM:602562
Naxos Disease	Subungual hyperkeratosis, Curly hair, Epidermal acanthosis, Acantholysis, Sparse eyebrow, Diffuse...	OMIM:601214
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Dry skin	ORPHA:95715
Aplasia Cutis Congenita	Skin ulcer	ORPHA:1114
Tularemia	Skin rash, Erythema nodosum, Increased circulating antibody level, Pleural effusion, Cutaneous ab...	ORPHA:3392
Neonatal Lupus Erythematosus	Parakeratosis, Skin rash, Maculopapular exanthema, Hyperkeratosis, Malar rash	ORPHA:398124
Jung Syndrome	Dry skin	ORPHA:2321
Juvenile Dermatomyositis	Pericarditis, Myositis, Skin rash, Pruritus, Erythema, Skin ulcer, Arthritis, Dry skin	ORPHA:93672
Igg4-Related Kidney Disease	Lymphadenitis, Increased circulating IgG level, Tubulointerstitial nephritis, Cholecystitis, Decr...	ORPHA:449395
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Recurrent pneumonia, Pyoderma gangrenosum, Bronchiectasis, Recurrent aphthous stomatitis, Chronic...	OMIM:150550
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hyperkeratosis, Lymphedema	ORPHA:79279
Gjc2-Related Late-Onset Primary Lymphedema	Genital edema, Predominantly lower limb lymphedema, Recurrent skin infections, Edema of the dorsu...	ORPHA:568051
Autosomal Erythropoietic Protoporphyria	Pruritus, Erythema, Eczema, Edema	ORPHA:79278
Dermatitis Herpetiformis	Eczema, Edema, Pruritus, Erythema, Skin vesicle	ORPHA:1656
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level	OMIM:619705
19P13.3 Microduplication Syndrome	Microtia, Posteriorly rotated ears, Low-set ears	ORPHA:447980
Johnson Neuroectodermal Syndrome	Conductive hearing impairment, Microtia, Atresia of the external auditory canal, Protruding ear	ORPHA:2316
Multiple Myeloma	Increased circulating IgG level, Pleural effusion, Increased circulating IgA level, Decreased cir...	ORPHA:29073
Microscopic Polyangiitis	Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Peritonitis, E...	ORPHA:727
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Chronic oral candidiasis, Decreased circulating IgG level, Skin rash, Decreased circulating IgA l...	ORPHA:275
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Bronchiectasis, Atopic dermatitis...	ORPHA:436159
Costello Syndrome	Low-set, posteriorly rotated ears, Redundant skin, Lack of skin elasticity, Hyperkeratosis, Large...	ORPHA:3071
Refsum Disease	Dry skin, Ichthyosis	ORPHA:773
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating interleukin 6 concentration, Increased circulating interleukin 8 concentrat...	OMIM:256040
Takayasu Arteritis	Increased inflammatory response, Inflammatory abnormality of the eye, Skin ulcer, Arthritis	ORPHA:3287
Cardiofaciocutaneous Syndrome 3	Hyperkeratosis, Webbed neck	OMIM:615279
Branchiootorenal Syndrome 1	Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea...	OMIM:113650
Hypotrichosis With Juvenile Macular Degeneration	Sparse scalp hair, Brittle hair, Fine hair, Hyperkeratosis, Pili torti	ORPHA:1573
Arthrogryposis And Ectodermal Dysplasia	Hyperkeratosis, Dry skin	OMIM:601701
Trichothiodystrophy 5, Nonphotosensitive	Brittle hair, Slow-growing hair, Sparse eyebrow, Chronic decreased circulating IgG1, Reduced hair...	OMIM:300953
Monilethrix	Alopecia, Brittle hair, Abnormality of hair texture, Perifollicular hyperkeratosis, Nail dystroph...	OMIM:158000
Adult Syndrome	Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Skin ulcer, Fine hair, ...	ORPHA:978
Insulin-Resistance Syndrome Type B	Alopecia, Skin rash, Decreased circulating complement factor B concentration, Increased circulati...	ORPHA:2298
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Aplasia/Hypoplasia of the earlobes, Abnormal antitragus morphology, Microtia, Conductive hearing ...	ORPHA:2878
Hennekam-Beemer Syndrome	Thickened skin, Erythema, Skin vesicle, Microtia, Conductive hearing impairment, Hearing impairment	ORPHA:2135
Femoral-Facial Syndrome	Microtia, Low-set ears	ORPHA:1988
Juvenile Hyaline Fibromatosis	Skin ulcer	ORPHA:2028
Syndromic Diarrhea	Hypopigmentation of hair, Brittle hair, Uncombable hair, Woolly hair, Dry skin, Panhypogammaglobu...	ORPHA:84064
Atopic Keratoconjunctivitis	Keratitis, Keratoconjunctivitis sicca, Dry skin, Blepharitis	ORPHA:163934
Aplasia Cutis-Myopia Syndrome	Skin ulcer	ORPHA:1117
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Thickened skin, Erythema, Palmoplantar keratoderma, Skin ulcer	ORPHA:659
Tooth Agenesis, Selective, 4	Sparse scalp hair, Sparse eyebrow, Short eyelashes, Palmar hyperkeratosis, Dry skin, Dystrophic f...	OMIM:150400
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Hyperkeratosis, Abnormal antihelix morphology, Abnormal helix ...	ORPHA:1005
Activated Pi3K-Delta Syndrome	Increased circulating IgM level, Decreased circulating antibody level	ORPHA:397596
Syndromic Recessive X-Linked Ichthyosis	Hyperkeratosis, Ichthyosis	ORPHA:281090
19Q13.11 Microdeletion Syndrome	Supernumerary nipple, Fine hair, Sparse or absent eyelashes, Nail dysplasia, Sparse hair, Dry ski...	ORPHA:217346
Dyskeratosis Congenita, Autosomal Dominant 3	Alopecia, Fine hair, Premature graying of hair, Bone marrow hypocellularity, Nail dysplasia, Dry ...	OMIM:613990
O'Sullivan-Mcleod Syndrome	Increased circulating antibody level	ORPHA:99965
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Highly arched eyebrow, Low anterior hairline, Hirsutism, Woolly hair, Dry skin, Broad eyebrow	OMIM:619244
Neuropathy, Hereditary Sensory And Autonomic, Type Ic	Osteomyelitis, Skin ulcer	OMIM:613640
Seckel Syndrome 7	Microtia	OMIM:614851
Intellectual Developmental Disorder, Autosomal Dominant 43	Attached earlobe, Microtia	OMIM:616977
Mast Cell Sarcoma	Hypoplasia of the ear cartilage	ORPHA:66661
Polyarteritis Nodosa	Pericarditis, Erythema, Skin ulcer	ORPHA:767
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Low-set, posteriorly rotated ears, Microtia, Atresia of the external auditory canal	ORPHA:1770
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Keratitis, Facial erythema, Folliculitis, Palmoplantar keratoderma, Conjunctivitis, Blepharitis	OMIM:612843
Neuropathy, Hereditary Sensory And Autonomic, Type Iib	Osteomyelitis, Acral ulceration	OMIM:613115
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Dry skin	ORPHA:226313
Blau Syndrome	Pericarditis, Skin rash, Keratitis, Retrobulbar optic neuritis, Erythema nodosum, Erythema, Irido...	ORPHA:90340
Immunodeficiency 81	Recurrent cutaneous abscess formation, Skin rash, Reduced natural killer cell activity, Reduced a...	OMIM:619374
Diamond-Blackfan Anemia 10	Posteriorly rotated ears, Patent ductus arteriosus, Microtia, Atresia of the external auditory ca...	OMIM:613309
Mogs-Cdg	Generalized edema, Pulmonary edema, Alopecia, Fair hair, Edema, Polyhydramnios, Decreased circula...	ORPHA:79330
Proximal 16P11.2 Microduplication Syndrome	Microtia	ORPHA:370079
C3 Glomerulopathy	Paraproteinemia, Decreased circulating complement C3 concentration, Decreased circulating complem...	ORPHA:329918
Auriculocondylar Syndrome	Low-set, posteriorly rotated ears, Abnormal pinna morphology, Cleft helix, External ear malformat...	ORPHA:137888
Zika Virus Disease	Maculopapular exanthema, Skin rash, Edema, Pruritus, Increased circulating IgM level	ORPHA:448237
Distal Xq28 Microduplication Syndrome	Absent antihelix, Patent ductus arteriosus, Microtia	ORPHA:293939
Sweet Syndrome	Predominantly dermal neutrophilic infiltrate, Increased circulating interleukin 6 concentration, ...	ORPHA:3243
Acrogeria	Excessive wrinkled skin, Skin ulcer	ORPHA:2500
Buratti-Harel Syndrome	Microtia, Posteriorly rotated ears, Low-set ears	OMIM:619314
Ohdo Syndrome	Stenosis of the external auditory canal, Microtia, Hearing impairment	OMIM:249620
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Eczema, Elevated circulating creatine kinase concentration, Lymphadenitis, Inflammation of the la...	OMIM:615895
Huriez Syndrome	Congenital palmoplantar hyperkeratosis, Epidermal acanthosis	OMIM:181600
Immunodeficiency 32B	Impaired oxidative burst, Abnormal circulating IgG level	OMIM:226990
Sweeney-Cox Syndrome	Uplifted earlobe, Patent ductus arteriosus, Cupped ear, Microtia, Low-set ears, Crumpled ear, Ove...	OMIM:617746
Omenn Syndrome	Thickened skin, Hypoproteinemia, Pneumonia, Erythroderma	OMIM:603554
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Macrotia, Microtia, Hearing impairment	OMIM:620250
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Microtia, Low-set ears	OMIM:613320
Primary Intestinal Lymphangiectasia	Generalized edema, Edema, Pericardial effusion, Decreased circulating antibody level, Decreased c...	ORPHA:90362
Bazex-Dupré-Christol Syndrome	Macrotia, Hypoplasia of the ear cartilage	ORPHA:113
Beta-Thalassemia	Hepatitis, Pallor, Skin ulcer	ORPHA:848
Nager Syndrome	Low-set, posteriorly rotated ears, Microtia, Atresia of the external auditory canal, Hearing impa...	ORPHA:245
Warburg-Cinotti Syndrome	Hypoplasia of the ear cartilage, Posteriorly rotated ears, Erythema, Atresia of the external audi...	OMIM:618175
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Low anterior hairline, Horizontal eyebrow, High anterior hairline, Dry skin, Thick eyebrow	OMIM:618797
Schilbach-Rott Syndrome	Microtia, Posteriorly rotated ears	OMIM:164220
Lacrimoauriculodentodigital Syndrome 2	Cupped ear, Microtia, Hearing impairment	OMIM:620192
Chondrodysplasia Punctata 2, X-Linked Dominant	Edema, Polyhydramnios, Congenital ichthyosiform erythroderma, Congenital nonbullous ichthyosiform...	OMIM:302960
Mandibulofacial Dysostosis, Guion-Almeida Type	Microtia, Atresia of the external auditory canal, Low-set ears, Conductive hearing impairment, Ov...	OMIM:610536
Rift Valley Fever	Skin rash, Increased circulating IgG level, Increased circulating IgM level, Macular edema	ORPHA:319251
Scalp-Ear-Nipple Syndrome	Posteriorly rotated ears, Underdeveloped antitragus, Anteverted ears, Thickened skin, Cupped ear,...	OMIM:181270
Proteasome-Associated Autoinflammatory Syndrome 3	Myositis, Sinusitis, Hypertriglyceridemia, Skin rash, Arthritis, Panniculitis, Increased circulat...	OMIM:617591
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Pruritus, Increased circulating IgG level, Increased circulating IgM level	ORPHA:562639
Diabetic Embryopathy	Low-set, posteriorly rotated ears, Microtia, Hearing impairment	ORPHA:1926
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Hyperkeratosis, Sensorineural hearing impairment	ORPHA:1883
9P13 Microdeletion Syndrome	Recurrent otitis media, Dry skin	ORPHA:324313
Myoectodermal Gonadal Dysgenesis Syndrome	Highly arched eyebrow, Sparse eyebrow, Sparse pubic hair, Frontal upsweep of hair, Scaling skin, ...	OMIM:618419
Adult Syndrome	Sparse scalp hair, Absent nipple, Fair hair, Eczema, Sparse axillary hair, Nail pits, Alopecia of...	OMIM:103285
Cutaneous Collagenous Vasculopathy	Pruritus, Erythema, Skin rash, Petechiae	ORPHA:280779
Distal Triplication 15Q	Sensorineural hearing impairment, Cupped ear, Patent ductus arteriosus, Microtia, Abnormal helix ...	ORPHA:314588
Xeroderma Pigmentosum	Keratitis, Thickened skin, Erythema, Hyperkeratosis, Dry skin, Blepharitis	ORPHA:910
Acitretin/Etretinate Embryopathy	Microtia, Bilateral sensorineural hearing impairment, Cupped ear	ORPHA:40366
Aicardi-Goutieres Syndrome 9	Acute pancreatitis, Dry skin, Chilblains, Pericarditis	OMIM:619487
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Pruritus, Gastrointestinal inflammation, Palmoplantar keratoderma, Skin vesicle, Hyperkeratotic p...	ORPHA:79410
Lymphoproliferative Syndrome 1	Pericardial effusion, Pleural effusion, Decreased circulating IgG level, Decreased circulating an...	OMIM:613011
Agel Amyloidosis	Edema, Pruritus, Xerostomia, Cutis laxa, Blepharochalasis, Nail dystrophy, Sparse hair, Dry skin	ORPHA:85448
Neutropenia, Severe Congenital, X-Linked	Eczema	OMIM:300299
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	Brittle hair, Absent nipple, Sparse hair, Dry skin, Absent hair	OMIM:614940
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ...	OMIM:301081
C1Q Deficiency 2	Chilblains, Discoid lupus rash, Bronchiectasis, Arthritis, Recurrent otitis media, Malar rash	OMIM:620321
Dermatoosteolysis, Kirghizian Type	Keratitis, Osteoarthritis, Skin ulcer	ORPHA:1657
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency	Microtia, Posteriorly rotated ears, Low-set ears	OMIM:618336
Noonan Syndrome 14	Curly hair, Polyhydramnios, Sparse eyebrow, Low posterior hairline, Sparse hair, Dry skin	OMIM:619745
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Panniculitis, Dry skin, Eczema, Bone marrow hypocellularity	ORPHA:508542
Pachyonychia Congenita 2	Folliculitis, Subungual hyperkeratosis, Angular cheilitis, Palmoplantar hyperkeratosis	OMIM:167210
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hyperkeratosis, Low-set ears	ORPHA:163966
Hyperimmunoglobulinemia D With Periodic Fever	Increased circulating IgA level, Peritonitis, Erythema, Arthritis, Recurrent aphthous stomatitis,...	ORPHA:343
Reactive Arthritis	Pericarditis, Osteomyelitis, Pustule, Enthesitis, Hyperkeratosis, Inflammation of the large intes...	ORPHA:29207
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Erythroderma, Decreased circulating antibody level	OMIM:617425
Poems Syndrome	Edema, Pericardial effusion, Thickened skin, Abnormality of skin physiology, Leukonychia, Increas...	ORPHA:2905
Lethal Acantholytic Erosive Disorder	Absent eyebrow, Acantholysis, Absent eyelashes, Absent toenail, Absent fingernail, Congenital alo...	ORPHA:158687
Epidermolysis Bullosa, Lethal Acantholytic	Alopecia totalis, Acantholysis, Absent fingernail, Anonychia, Alopecia universalis	OMIM:609638
Tarp Syndrome	Posteriorly rotated ears, Prominent antihelix, Microtia, Low-set ears, Neonatal death	OMIM:311900
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Membranoproliferative glomerulonephritis, Palpebral edema, Nonimmune hydrops fetalis, Lymphedema,...	OMIM:137940
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Supernumerary nipple, Polyhydramnios, Fine hair, Aplastic/hypoplastic toenail, Dry skin, Aplasia/...	ORPHA:1812
Kanzaki Disease	Hyperkeratosis, Dry skin, Petechiae	OMIM:609242
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Dry skin, Skin rash	ORPHA:220295
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Skin ulcer, Purpura	ORPHA:743
Saethre-Chotzen Syndrome	Prominent crus of helix, External ear malformation, Sensorineural hearing impairment, Abnormal an...	ORPHA:794
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Microtia	ORPHA:163654
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Absent eyebrow, Brittle hair, Absent nipple, Eczema, Sparse eyelashes, Concave nail, Absent eyela...	OMIM:305100
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Low-set ears, Macrotia, Aplasia/Hypoplasia of the external ear, Hearing impairment	ORPHA:505237
Biotinidase Deficiency	Recurrent skin infections, Conjunctivitis, Skin rash, Seborrheic dermatitis	OMIM:253260
Eec Syndrome	Keratitis, Inflammatory abnormality of the eye, Hyperkeratosis, Dry skin, Blepharitis	ORPHA:1896
Acrofacial Dysostosis, Cincinnati Type	Patent ductus arteriosus, Macrotia, Anotia, Microtia	OMIM:616462
Fg Syndrome Type 1	Facial wrinkling, Sensorineural hearing impairment, Cupped ear, Microtia, Stenosis of the externa...	ORPHA:93932
Majeed Syndrome	Joint swelling, Inflammatory abnormality of the skin, Osteomyelitis, Skin rash	OMIM:609628
Ring Chromosome 12 Syndrome	Microtia, Low-set ears, Webbed neck	ORPHA:1439
Tick-Borne Encephalitis	Increased circulating IgG level, Abnormality of serum cytokine level, Increased circulating IgM l...	ORPHA:297
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Cholangitis, Cholecystitis, Decreased circulating IgG level, Psoriasiform derm...	ORPHA:183675
Alg11-Cdg	Dry skin	ORPHA:280071
Donohue Syndrome	Acanthosis nigricans, Hyperkeratosis, Macrotia, Low-set ears	OMIM:246200
Congenital Disorder Of Glycosylation, Type Iig	Posteriorly rotated ears, Microtia, Low-set ears, Conductive hearing impairment, Stenosis of the ...	OMIM:611209
Koolen-De Vries Syndrome	Ichthyosis, Hypopigmentation of hair, Dry skin, Abnormality of hair texture	ORPHA:96169
Lacrimoauriculodentodigital Syndrome 3	Cupped ear, Microtia, Hearing impairment	OMIM:620193
Dyskeratosis Congenita, Digenic	Alopecia, Sparse eyelashes, Decreased circulating total IgM, Nail dystrophy, Decreased circulatin...	OMIM:620040
Car T Cell Therapy-Associated Cytokine Release Syndrome	Increased circulating interleukin 6 concentration, Skin rash, Increased circulating interferon-ga...	ORPHA:542323
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Anteverted ears, Aplasia of the inner ear, Microtia, first degree, Profound sensorineural hearing...	OMIM:610706
Acquired Purpura Fulminans	Skin rash, Pyoderma gangrenosum, Macular purpura	ORPHA:49566
Focal Facial Dermal Dysplasia Type Iv	Abnormal epidermal morphology, Abnormal mast cell morphology	ORPHA:398189
Late-Onset Isolated Acth Deficiency	Decreased circulating cortisol level, Dry skin, Hashimoto thyroiditis, Hepatitis	ORPHA:199299
Congenital Analbuminemia	Edema, Facial edema, Pedal edema, Increased circulating antibody level, Oligohydramnios	ORPHA:86816
Ollier Disease	Skin ulcer	ORPHA:296
Pneumocystosis	Pleural effusion, Increased circulating antibody level, Chronic oral candidiasis	ORPHA:723
Chromosome 19Q13.11 Deletion Syndrome, Distal	Sparse eyelashes, Sparse eyebrow, Nail dysplasia, Sparse hair, Dry skin	OMIM:613026
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Eczema, Cholangitis, Pruritus, Angioedema, Chronic hepatiti...	ORPHA:3260
Selective Igm Deficiency	Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Otitis media, R...	ORPHA:331235
Linear Verrucous Nevus Syndrome	Hyperkeratosis	ORPHA:2611
Isotretinoin-Like Syndrome	Patent ductus arteriosus, Aplasia/Hypoplasia of the inner ear, Anotia, Microtia, Atresia of the e...	ORPHA:2306
21Q22.11Q22.12 Microdeletion Syndrome	Recurrent otitis media, Dry skin, Microtia, Low-set ears	ORPHA:261323
Limited Cutaneous Systemic Sclerosis	Skin ulcer	ORPHA:220402
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Recurrent otitis media, Microtia, Abnormality of the outer ear, Hearing impairment	ORPHA:2728
Ablepharon Macrostomia Syndrome	Redundant skin, Excessive wrinkled skin, Microtia, Atresia of the external auditory canal, Thin s...	ORPHA:920
Immunodeficiency 92	Partial absence of specific antibody response to tetanus vaccine, Decreased circulating IgG level...	OMIM:619652
Chronic Granulomatous Disease	Sinusitis, Eczema, Skin ulcer, Otitis media, Inflammatory abnormality of the eye	ORPHA:379
Yao Syndrome	Inflammatory abnormality of the skin, Pericarditis, Skin rash, Xerostomia, Arthritis, Keratoconju...	OMIM:617321
Immunodeficiency 97 With Autoinflammation	Recurrent skin infections, Eczema, Decreased circulating antibody level, Decreased circulating to...	OMIM:619802
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Panniculitis, Skin ulcer	ORPHA:86884
Autosomal Dominant Severe Congenital Neutropenia	Recurrent skin infections, Pneumonia, Pyoderma gangrenosum, Rhinitis, Periodontitis, Recurrent ap...	ORPHA:486
Restrictive Dermopathy	Short nail, Polyhydramnios, Epidermal hyperkeratosis, Sparse eyebrow, Aplasia/Hypoplastia of the ...	ORPHA:1662
Hemihyperplasia-Multiple Lipomatosis Syndrome	Hyperparakeratosis, Microtia	ORPHA:276280
Igg4-Related Ophthalmic Disease	Periorbital edema, Increased circulating IgE level, Palpebral edema, Increased circulating IgG4 l...	ORPHA:449563
Contractures-Developmental Delay-Pierre Robin Syndrome	Overfolded helix, Microtia, Lop ear	ORPHA:436003
Immunodeficiency 36 With Lymphoproliferation	Increased circulating IgM level, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:616005
Scleromyxedema	Pruritus, Thickened skin, Paraproteinemia, Sclerodactyly	ORPHA:167635
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Foot osteomyelitis, Osteomyelitis, Acral ulceration	OMIM:162400
Coccidioidomycosis	Skin rash, Pruritus, Erythema nodosum, Increased circulating IgG level, Increased circulating IgM...	ORPHA:228123
Blau Syndrome	Nongranulomatous uveitis, Pericarditis, Eczema, Erythema nodosum, Uveitis, Skin ulcer, Synovitis,...	OMIM:186580
Brucellosis	Anterior uveitis, Pericarditis, Osteomyelitis, Pneumonia, Glomerulonephritis, Orchitis, Myocardit...	ORPHA:1304
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Hearing abnormality, Microtia, Cupped ear	ORPHA:1352
Fusariosis	Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Osteomyelitis, Keratitis, Per...	ORPHA:228119
Pachyonychia Congenita	Angular cheilitis, Linear arrays of macular hyperkeratoses in flexural areas, Palmoplantar kerato...	ORPHA:2309
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Skin rash, Eczema, Erythema nodosum, Skin ulcer, Decreased circulating antibody level, Arthritis,...	OMIM:615688
Adult Idiopathic Neutropenia	Increased circulating IgM level	ORPHA:2688
Aregenerative Anemia	Pallor, Abnormality of interleukin secretion, Bone marrow hypocellularity	ORPHA:101096
Kagami-Ogata Syndrome	Patent ductus arteriosus, Microtia	OMIM:608149
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Epidermal acanthosis, Ecz...	ORPHA:83617
Sheehan Syndrome	Decreased circulating cortisol level, Dry skin, Pallor, Hashimoto thyroiditis	ORPHA:91355
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Increased circulating IgM level, Skin rash, Joint swelling, Increased circulating IgA level	OMIM:617099
Meier-Gorlin Syndrome 4	Microtia, Low-set ears	OMIM:613804
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Cutis laxa, Microtia, Low-set ears, Webbed neck, Prominent antitragus	OMIM:245600
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Recurrent bacterial skin infections, Keratitis, Hyperkeratosis, Keratoconjunctivitis sicca, Ichth...	OMIM:148210
Myotonic Dystrophy 2	Decreased circulating total IgM, Decreased circulating IgG level, Frontal balding	OMIM:602668
Koolen-De Vries Syndrome	Dry skin, Eczema	OMIM:610443
Intellectual Developmental Disorder, Autosomal Dominant 1	Cupped ear, Microtia, Low-set ears, Protruding ear	OMIM:156200
Congenital Disorder Of Deglycosylation 2	Cleft earlobe, Microtia, Hearing impairment	OMIM:619775
Autosomal Dominant Hypocalcemia	Dry skin, Eczema	ORPHA:428
Plague	Chapped lip, Skin rash, Erythema nodosum, Lymphadenitis, Enterocolitis, Skin ulcer, Endocarditis,...	ORPHA:707
Familial Cold Autoinflammatory Syndrome 2	Erythema nodosum, Arthritis, Skin rash, Recurrent aphthous stomatitis	OMIM:611762
Livedoid Vasculopathy	Superficial dermal perivascular inflammatory infiltrate, Recurrent skin infections, Abnormality o...	ORPHA:542643
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Skin rash, Partial IgA deficiency, Pustule, Lack of T cell function, Decreased circulating total ...	ORPHA:35078
Chromosome 1Q41-Q42 Deletion Syndrome	Microtia, Low-set ears	OMIM:612530
Neurodevelopmental Disorder With Spasticity And Poor Growth	Large earlobe, Patent ductus arteriosus, Microtia, Low-set ears	OMIM:618076
Noonan Syndrome 10	Patent ductus arteriosus, Hyperkeratosis, Low-set ears, Webbed neck, Palmoplantar cutis laxa	OMIM:616564
Melkersson-Rosenthal Syndrome	Periorbital edema, Inflammatory abnormality of the skin, Cheilitis, Edema	ORPHA:2483
Hereditary Mucoepithelial Dysplasia	Hyperkeratosis	ORPHA:1839
Incontinentia Pigmenti	Ridged nail, Alopecia, Maculopapular exanthema, Supernumerary nipple, Erythema, Nail pits, Fine h...	OMIM:308300
Simpson-Golabi-Behmel Syndrome	Supernumerary nipple, Polyhydramnios, Increased circulating IgE level, Nail dysplasia, Small nail	ORPHA:373
Restrictive Dermopathy 1	Sparse eyelashes, Short nail, Polyhydramnios, Epidermal hyperkeratosis, Absent eyelashes, Sparse ...	OMIM:275210
Hereditary Acrokeratotic Poikiloderma	Eczema, Pustule, Erythema, Skin ulcer, Palmoplantar hyperkeratosis, Keratoconjunctivitis, Ichthyosis	ORPHA:2907
Barber-Say Syndrome	Dermal translucency, Redundant skin, Extra concha fold, Premature skin wrinkling, Low-set ears, S...	OMIM:209885
20Q11.2 Microduplication Syndrome	Low-set, posteriorly rotated ears, Thickened ears, Microtia	ORPHA:363659
Rabson-Mendenhall Syndrome	Thick hair, Onychauxis, Low anterior hairline, Premature graying of hair, Acanthosis nigricans, D...	ORPHA:769
Calciphylaxis	Abnormality of skin physiology, Skin ulcer	ORPHA:280062
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Patent ductus arteriosus, Microtia, Low-set ears	OMIM:277380
Cortisone Reductase Deficiency 1	Acne	OMIM:604931
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Decreased lymphocyte proliferation in response to anti-CD3, Partial absence of specific antibody ...	OMIM:618986
Townes-Brocks Syndrome 2	Overfolded helix, Cupped ear, Microtia	OMIM:617466
Meier-Gorlin Syndrome 5	Small earlobe, Microtia, Low-set ears	OMIM:613805
Vici Syndrome	Decreased circulating IgG2 level, Decreased circulating IgG level	ORPHA:1493
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Conductive hearing impairment, Stenosis of the external auditory canal, Microtia	OMIM:171480
Septo-Optic Dysplasia Spectrum	Dry skin	ORPHA:3157
Mycetoma	Recurrent bacterial skin infections, Cobblestone-like hyperkeratosis, Osteomyelitis	ORPHA:2583
Alg12-Cdg	Redundant skin, Partial absence of specific antibody response to Haemophilus influenzae type b (H...	ORPHA:79324
Igg4-Related Pachymeningitis	Complement deficiency, Lymphadenitis, Increased circulating IgG4 level	ORPHA:449427
Free Sialic Acid Storage Disease	Skin ulcer	ORPHA:834
Den Hoed-De Boer-Voisin Syndrome	Widow's peak, Dry skin, Thick eyebrow, Oligohydramnios	OMIM:619229
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Pruritus, Arthritis, Inflammation of the...	ORPHA:324964
Acrofacial Dysostosis, Rodríguez Type	Microtia	ORPHA:1788
Flynn-Aird Syndrome	Skin ulcer	ORPHA:2047
Intellectual Developmental Disorder, Autosomal Dominant 54	Dry skin, Eczema	OMIM:617799
Axial Mesodermal Dysplasia Spectrum	Microtia	ORPHA:1834
Cranioectodermal Dysplasia 3	Short nail, Broad nail, Cutis laxa, Fine hair, Sparse hair, Dry skin	OMIM:614099
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Microtia, Low-set ears	OMIM:616723
Isolated Thyroid-Stimulating Hormone Deficiency	Hypercholesterolemia, Dry skin	ORPHA:90674
Immunodeficiency 57 With Autoinflammation	Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Inflammation of the large intestine	OMIM:618108
Tetraploidy	Hypoplasia of the ear cartilage	ORPHA:3305
Treacher Collins Syndrome 2	Anotia, Conductive hearing impairment, Fusion of middle ear ossicles, Microtia	OMIM:613717
Immunoglobulin A Vasculitis	Episcleritis, Skin rash, Pustule, Orchitis, Erythema, Skin ulcer, Arthritis, Infectious encephali...	ORPHA:761
Lassa Fever	Facial edema, Increased circulating IgM level	ORPHA:99824
Bloom Syndrome	Hypertrichosis, Malar rash, Facial erythema, Decreased circulating total IgM, Decreased circulati...	OMIM:210900
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypertriglyceridemia, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Hypercholesterolem...	OMIM:610644
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Medial flaring of the eyebrow, Sparse scalp hair, Thick eyebrow, Thoracic hypertrichosis, Curly h...	OMIM:619503
Congenital Disorder Of Glycosylation, Type Ig	Polyhydramnios, Edema, Decreased circulating total IgM, Decreased circulating IgG level, Decrease...	OMIM:607143
Incontinentia Pigmenti	Skin rash, Keratitis, Erythema, Uveitis, Skin ulcer, Hyperkeratosis, Infectious encephalitis	ORPHA:464
Hereditary Spherocytosis	Gout, Maculopapular exanthema, Pallor, Skin ulcer	ORPHA:822
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Increased circulating IgM level, Decreased circulating IgA level	OMIM:242860
Igg4-Related Thyroid Disease	Increased circulating IgG4 level	ORPHA:64744
Agammaglobulinemia 7, Autosomal Recessive	Erythema nodosum	OMIM:615214
Pelvis-Shoulder Dysplasia	Microtia, Abnormal pinna morphology	ORPHA:2839
Kindler Epidermolysis Bullosa	Recurrent skin infections, Erythema, Cheilitis, Hyperkeratosis, Inflammation of the large intesti...	ORPHA:2908
Mucopolysaccharidosis-Plus Syndrome	Thickened skin, Synophrys, Low anterior hairline, Low posterior hairline, Increased circulating I...	OMIM:617303
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Chronic oral candidiasis, Psoriasiform dermatitis, Palpebral edema, Decreased lymphocyte prolifer...	ORPHA:221139
Ablepharon-Macrostomia Syndrome	Microtia, third degree, Redundant skin, Thin skin, Low-set ears, Premature skin wrinkling, Dry sk...	OMIM:200110
Sialidosis Type 1	Hyperkeratosis, Sensorineural hearing impairment	ORPHA:812
Transcobalamin Ii Deficiency	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:275350
Tangier Disease	Hypertriglyceridemia, Dry skin, Hypocholesterolemia	ORPHA:31150
Immunodeficiency 110 With Lymphoproliferation	Recurrent skin infections, Recurrent pneumonia, Bronchiectasis, Chronic mucocutaneous candidiasis...	OMIM:614868
Meier-Gorlin Syndrome 2	Microtia, Abnormal pinna morphology	OMIM:613800
Transketolase Deficiency	Conjunctivitis, Uveitis, Seborrheic dermatitis	ORPHA:488618
Immunodeficiency 98 With Autoinflammation, X-Linked	Decreased circulating IgG level, Bone marrow hypocellularity, Chronic oral candidiasis	OMIM:301078
Tyrosinemia Type 2	Hyperkeratosis, Palmoplantar keratoderma	ORPHA:28378
X-Linked Intellectual Disability, Nascimento Type	Recurrent cutaneous abscess formation, Lumbar hypertrichosis, Abnormal hair whorl, Synophrys, Low...	ORPHA:163956
Papillon-Lefèvre Syndrome	Recurrent cutaneous abscess formation, Severe periodontitis, Recurrent skin infections, Pustule, ...	ORPHA:678
Sapho Syndrome	Psoriasiform dermatitis, Acne, Skin rash, Edema, Recurrent skin infections, Pustule, Osteomyeliti...	ORPHA:793
Inflammatory Pseudotumor Of The Liver	Increased hepatitis B virus antibody level	ORPHA:90003
Dermatomyositis	Pericarditis, Pruritus, Myocarditis, Erythema, Skin ulcer, Arthritis, Dry skin	ORPHA:221
Resistance To Thyrotropin-Releasing Hormone Syndrome	Dry skin	ORPHA:99832
Autosomal Agammaglobulinemia	Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepatitis, Arthri...	ORPHA:33110
Toxic Epidermal Necrolysis	Acantholysis, Erythema, Skin ulcer, Conjunctivitis, Pancreatitis	ORPHA:537
Malakoplakia	Inflammatory abnormality of the skin, Skin rash, Orchitis, Urinary bladder inflammation, Pruritus...	ORPHA:556
Werner Syndrome	Hyperkeratosis, Lack of skin elasticity, Skin ulcer	ORPHA:902
Brooke-Spiegler Syndrome	Skin ulcer	ORPHA:79493
46,Xy Sex Reversal 4	Recurrent otitis media, Sensorineural hearing impairment, Microtia	OMIM:154230
Parkes Weber Syndrome	Scaling skin, Skin ulcer	ORPHA:90307
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Conductive hearing impairment, Stenosis of the external auditory canal, Anotia, Atresia of the ex...	OMIM:608257
Adult Polyglucosan Body Disease	Skin ulcer	ORPHA:206583
Catastrophic Antiphospholipid Syndrome	Myocarditis, Abnormality of serum cytokine level, Skin ulcer, Arthritis	ORPHA:464343
Ohdo Syndrome, X-Linked	Posteriorly rotated ears, Microtia, Low-set ears, Stenosis of the external auditory canal, Hearin...	OMIM:300895
Secondary Intestinal Lymphangiectasia	Decreased circulating IgG1 level, Intestinal lymphedema, Edema, Lymphedema, Chylous ascites, Decr...	ORPHA:90363
Van Maldergem Syndrome 2	Sensorineural hearing impairment, Microtia, Atresia of the external auditory canal, Conductive he...	OMIM:615546
Van Maldergem Syndrome 1	Conductive hearing impairment, Sensorineural hearing impairment, Microtia, Atresia of the externa...	OMIM:601390
Mgat2-Cdg	Hydrops fetalis, Decreased circulating antibody level, Long eyelashes, Hypoplastic nipples, Decre...	ORPHA:79329
Hyperzincemia With Functional Zinc Depletion	Skin rash	OMIM:601979
Igg4-Related Dacryoadenitis And Sialadenitis	Palpebral edema, Increased circulating IgG4 level, Increased circulating IgA level, Facial edema,...	ORPHA:79078
Fanconi Anemia, Complementation Group L	Anotia, Microtia, Low-set ears, Webbed neck	OMIM:614083
Ullrich Congenital Muscular Dystrophy 1	Follicular hyperkeratosis, Protruding ear	OMIM:254090
Epidermodysplasia Verruciformis, Susceptibility To, 3	Epidermal acanthosis	OMIM:618267
Leukocyte Adhesion Deficiency, Type I	Chronic mucocutaneous candidiasis, Osteomyelitis, Periodontitis, Skin ulcer	OMIM:116920
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Microtia, Posteriorly rotated ears, Low-set ears, Hearing impairment	OMIM:601353
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Dry skin, Aplasia/Hypoplasia of the eyebrow, Fine hair	ORPHA:2637
Osteopathia Striata With Cranial Sclerosis	Posteriorly rotated ears, Patent ductus arteriosus, Microtia, Low-set ears, Webbed neck, Conducti...	OMIM:300373
Mycophenolate Mofetil Embryopathy	Atresia of the external auditory canal, Anotia, Microtia, Hearing impairment	ORPHA:268249
Bullous Pemphigoid	Psoriasiform dermatitis, Eczema	ORPHA:703
Liver Failure, Infantile, Transient	Decreased circulating IgG level	OMIM:613070
Leukocyte Adhesion Deficiency Type Ii	Skin vesicle, Microtia, Recurrent otitis media, Conductive hearing impairment, Small earlobe	ORPHA:99843
Dubowitz Syndrome	Sparse scalp hair, Abnormal fingernail morphology, Eczema, Hypoplastic toenails, Low anterior hai...	ORPHA:235
Aicardi-Goutières Syndrome	Myositis, Chilblains, Increased circulating interferon-gamma concentration, Arthritis, Panniculit...	ORPHA:51
Fanconi Anemia, Complementation Group F	Conductive hearing impairment, Patent ductus arteriosus, Microtia	OMIM:603467
Lipodystrophy, Familial Partial, Type 7	Hypertriglyceridemia, Facial wrinkling, Recurrent pancreatitis, Acanthosis nigricans, Hypercholes...	OMIM:606721
Q Fever	Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Myocarditis, Hepatitis, Endocard...	ORPHA:781
Noonan Syndrome 2	Posteriorly rotated ears, Patent ductus arteriosus, Hyperkeratosis, Low-set ears, Palmoplantar cu...	OMIM:605275
Monosomy 22	Thickened skin, Seborrheic dermatitis, Joint swelling, Scleroderma	ORPHA:96123
Scalp-Ear-Nipple Syndrome	Underdeveloped antitragus, Abnormal antihelix morphology, Microtia, Small earlobe, Underdeveloped...	ORPHA:2036
Say-Barber-Miller Syndrome	Eczema, Highly arched eyebrow, Abnormality of the hairline, Erythema nodosum, Sparse eyebrow, Tra...	ORPHA:3132
Ebola Hemorrhagic Fever	Increased circulating antibody level, Maculopapular exanthema	ORPHA:319218
Infantile Systemic Hyalinosis	Thickened skin, Skin ulcer, Steatorrhea	ORPHA:2176
Menkes Disease	Thickened skin, Dry skin, Osteomyelitis	ORPHA:565
Monosomy 9P	Abnormal antihelix morphology, Anotia, Microtia, Atresia of the external auditory canal, Low-set ...	ORPHA:261112
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Highly arched eyebrow, Palmoplantar hyperkeratosis, Fine hair, Hypoplastic nipples, Ichthyosis, S...	OMIM:280000
Vexas Syndrome	Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Chondritis of pinna,...	OMIM:301054
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Sensorineural hearing impairment, Microtia, Posteriorly rotated ears, Low-set ears	OMIM:301040
Tetraamelia-Multiple Malformations Syndrome	Microtia	ORPHA:3301
Pallister-Hall Syndrome	Posteriorly rotated ears, Patent ductus arteriosus, Microtia, Atresia of the external auditory ca...	OMIM:146510
Nestor-Guillermo Progeria Syndrome	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dystrophy, Dry skin	OMIM:614008
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Abnormal pinna morphology, Anteverted ears, Microtia, Low-set ears, Thickened helices, Hypoplasti...	OMIM:617641
Crimean-Congo Hemorrhagic Fever	Pericardial effusion, Erythema nodosum, Increased circulating IgG level, Increased circulating Ig...	ORPHA:99827
Xfe Progeroid Syndrome	Dry skin	OMIM:610965
Hallermann-Streiff Syndrome	Dry skin, Recurrent pneumonia	OMIM:234100
Gaucher Disease Type 1	Pericardial effusion, Ascites, Increased circulating antibody level, Pedal edema	ORPHA:77259
Hand-Foot-Genital Syndrome	Microtia	ORPHA:2438
Hajdu-Cheney Syndrome	Thickened skin, Dry skin, Periodontitis, Skin ulcer	ORPHA:955
Hyper-Igd Syndrome	Skin rash, Increased circulating IgA level, Lymphadenitis, Chronic oral candidiasis, Molluscum co...	OMIM:260920
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Microtia, Posteriorly rotated ears, Low-set ears	OMIM:614813
Cardiofaciocutaneous Syndrome 1	Posteriorly rotated ears, Anterior creases of earlobe, Webbed neck, Hyperkeratosis, Large earlobe...	OMIM:115150
Familial Multiple Nevi Flammei	Skin ulcer	ORPHA:624
Postinfectious Vasculitis	Viral hepatitis, Inflammatory abnormality of the skin, Palpable purpura, Membranoproliferative gl...	ORPHA:48435
Viss Syndrome	Sparse scalp hair, Alopecia, Eczema, Polyhydramnios, Increased circulating IgE level, Atopic derm...	OMIM:619472
Granulomatosis With Polyangiitis	Episcleritis, Sinusitis, Keratitis, Uveitis, Skin ulcer, Conjunctivitis, Chronic otitis media	OMIM:608710
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Hyperkeratosis, Posteriorly rotated ears	OMIM:620189
Fucosidosis	Dry skin, Petechiae	OMIM:230000
Neuropathy, Hereditary Sensory And Autonomic, Type V	Septic arthritis, Osteoarthritis, Osteomyelitis, Acral ulceration	OMIM:608654
Limb-Mammary Syndrome	Dry skin, Chronic irritative conjunctivitis, Psoriasiform dermatitis, Blepharitis	ORPHA:69085
Oculocutaneous Albinism Type 1A	Hyperkeratosis, Thickened skin	ORPHA:79431
Woodhouse-Sakati Syndrome	Hyperlipidemia, Scaling skin	ORPHA:3464
Intellectual Developmental Disorder, Autosomal Dominant 53	Microtia	OMIM:617798
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Microtia	OMIM:611717
Microcephalic Primordial Dwarfism, Dauber Type	Microtia	ORPHA:319675
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Microtia, Low-set ears	OMIM:613603
Meier-Gorlin Syndrome 1	Microtia, Atresia of the external auditory canal, Low-set ears, Incomplete partition of the cochl...	OMIM:224690
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Dry skin	OMIM:619306
Attenuated Chédiak-Higashi Syndrome	Skin ulcer	ORPHA:352723
Squamous Cell Carcinoma Of The Anal Canal	Skin ulcer	ORPHA:424019
Immunodeficiency 47	Decreased circulating total IgG, Decreased circulating antibody level, Cutis laxa, Decreased circ...	OMIM:300972
Okur-Chung Neurodevelopmental Syndrome	Polyhydramnios, Highly arched eyebrow, Synophrys, Decreased circulating antibody level, Decreased...	OMIM:617062
Chromosome 16P13.3 Duplication Syndrome	Posteriorly rotated ears, Protruding ear, Microtia, Low-set ears, Webbed neck, Overfolded helix, ...	OMIM:613458
Diffuse Cutaneous Systemic Sclerosis	Arthritis, Skin ulcer	ORPHA:220393
Cerebrofacioarticular Syndrome	Conductive hearing impairment, Microtia	ORPHA:314679
Aymé-Gripp Syndrome	Posteriorly rotated ears, Sensorineural hearing impairment, Patent ductus arteriosus, Microtia, L...	ORPHA:1272
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Patent ductus arteriosus, Large fleshy ears, Microtia, Prominent tragus, Overfolded helix, Promin...	ORPHA:280633
Periodic Fever, Familial, Autosomal Dominant	Myositis, Skin rash, Maculopapular exanthema, Oligoarthritis, Conjunctivitis, Erysipelas	OMIM:142680
Majeed Syndrome	Inflammatory abnormality of the skin, Osteomyelitis, Acne, Edema, Pustule, Synovitis, Abnormal in...	ORPHA:77297
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Conductive hearing impairment, Sensorineural hearing impairment, Microtia, Low-set ears, Neonatal...	OMIM:618500
Opitz-Kaveggia Syndrome	Sensorineural hearing impairment, Microtia, first degree, Facial wrinkling, Simple ear	OMIM:305450
Acute Adrenal Insufficiency	Decreased circulating cortisol level, Dry skin	ORPHA:95409
Infantile Myofibromatosis	Skin ulcer	ORPHA:2591
Pseudopelade Of Brocq	Recurrent skin infections, Cheilitis	ORPHA:129
Helix Syndrome	Dry skin	OMIM:617671
Wiskott-Aldrich Syndrome	Sinusitis, Eczema, Keratitis, Skin ulcer, Arthritis, Inflammation of the large intestine, Conjunc...	ORPHA:906
Systemic Sclerosis	Pericarditis, Osteomyelitis, Recurrent skin infections, Glomerulonephritis, Pruritus, Thickened s...	ORPHA:90291
Meier-Gorlin Syndrome 3	Microtia, Posteriorly rotated ears, Low-set ears	OMIM:613803
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Microtia, Low-set ears	OMIM:614643
Addison Disease	Decreased circulating cortisol level, Dry skin, Hashimoto thyroiditis	ORPHA:85138
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Seborrheic dermatitis	OMIM:210210
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Ascites, Seborrheic dermatitis, Aspiration pneumonia, Ichthyosis	OMIM:301072
Kagami-Ogata Syndrome	Microtia, Webbed neck	ORPHA:254519
Bethlem Myopathy	Hyperkeratosis, Elevated circulating creatine kinase concentration	ORPHA:610
Lymphatic Filariasis	Predominantly lower limb lymphedema, Glomerulonephritis, Lymphedema, Orchitis, Lymphadenitis, Kne...	ORPHA:2035
Stevens-Johnson Syndrome	Erythema, Conjunctivitis, Pancreatitis, Acantholysis	ORPHA:36426
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Neonatal death, Microtia, Abnormal pinna morphology, Low-set ears	OMIM:617925
Meier-Gorlin Syndrome 6	Conductive hearing impairment, Stenosis of the external auditory canal, Microtia, Posteriorly rot...	OMIM:616835
Encephalitis Lethargica	Increased circulating antibody level	ORPHA:83600
Bleeding Disorder, Platelet-Type, 21	Psoriasiform dermatitis, Eczema	OMIM:617443
Cousin Syndrome	Posteriorly rotated ears, Low-set ears, Stenosis of the external auditory canal, Microtia, first ...	OMIM:260660
Craniofacioskeletal Syndrome	Patent ductus arteriosus, Microtia, Posteriorly rotated ears	OMIM:300712
Bartsocas-Papas Syndrome 1	Cupped ear, Dry skin, Microtia, Low-set ears	OMIM:263650
Leprosy	Penetrating foot ulcers, Uveitis, Hyperkeratosis, Acral ulceration, Iritis	ORPHA:548
Galloway-Mowat Syndrome	Macrotia, Hypoplasia of the ear cartilage	ORPHA:2065
Dyskeratosis Congenita	Skin ulcer, Palmoplantar keratoderma, Periodontitis, Bone marrow hypocellularity, Skin vesicle, B...	ORPHA:1775
Bone Marrow Failure Syndrome 3	Hyperkeratosis, Eczema, Bone marrow hypocellularity	OMIM:617052
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Eczema, Polyhydramnios, Hyperkeratosis, Ichthyosis, Webbed neck	OMIM:607721
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia	Aplasia of the inner ear, Sensorineural hearing impairment, Microtia, Hearing impairment	ORPHA:90024
Diamond-Blackfan Anemia	Microtia, Pallor, Low-set ears, Webbed neck	ORPHA:124
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Foot osteomyelitis, Acral ulceration	OMIM:256840
17Q24.2 Microdeletion Syndrome	Otosclerosis, Patent ductus arteriosus after birth at term, Microtia, Recurrent otitis media, Pro...	ORPHA:529962
Mucoepithelial Dysplasia, Hereditary	Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Follicul...	OMIM:158310
Immunodeficiency 17	Chronic oral candidiasis, Eczema, Chronic decreased cirulating IgG2	OMIM:615607
Granulomatosis With Polyangiitis	Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Prostatitis, Skin ulcer, Oti...	ORPHA:900
Ataxia-Telangiectasia	Decreased circulating IgG level, Abnormal hair morphology, Decreased circulating IgG2 level, Defe...	OMIM:208900
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Microtia	OMIM:210720
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Patent ductus arteriosus, Microtia, Hearing impairment	ORPHA:2282
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Microtia, Atresia of the external auditory canal, Low-set ears	OMIM:236670
Tubulointerstitial Nephritis And Uveitis Syndrome	Skin rash, Macular edema, Increased circulating IgG level, Increased circulating antibody level, ...	ORPHA:91500
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Conductive hearing impairment, Hyperkeratosis, Microtia, Thin skin	OMIM:129900
Premature Aging Syndrome, Penttinen Type	Thickened skin, Sensorineural hearing impairment, Palmoplantar hyperkeratosis, Hyperkeratosis, Th...	OMIM:601812
Ear-Patella-Short Stature Syndrome	Microtia, third degree, Posteriorly rotated ears, Anotia, Atresia of the external auditory canal,...	ORPHA:2554
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Thick hair, Thickened skin, Increased circulating IgM level, Long eyelashes, Bone marrow hypocell...	ORPHA:505248
Bloom Syndrome	Skin rash, Sparse eyelashes, Paronychia, Decreased circulating antibody level, Decreased circulat...	ORPHA:125
Chime Syndrome	Hyperkeratosis, Erythema, Skin ulcer, Ichthyosis	ORPHA:3474
Mevalonic Aciduria	Increased circulating IgD level, Skin rash, Edema, Morbilliform rash	OMIM:610377
Orofaciodigital Syndrome Type 1	Chronic otitis media, Dry skin	ORPHA:2750
Osteopetrosis, Autosomal Recessive 7	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:612301
Giant Cell Arteritis	Arthritis, Pericarditis, Skin ulcer	ORPHA:397
Systemic-Onset Juvenile Idiopathic Arthritis	Juvenile rheumatoid arthritis, Anterior uveitis, Pericarditis, Skin rash	ORPHA:85414
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hyperkeratosis, Stillbirth, Microtia, Low-set ears, Dry skin	OMIM:210710
Congenital Disorder Of Glycosylation, Type Ia	Nonimmune hydrops fetalis, Edema, Pericardial effusion, Decreased circulating IgG level, Decrease...	OMIM:212065
Primary Biliary Cholangitis	Pruritus, Increased circulating IgM level, Ascites, Increased circulating IgA level	ORPHA:186
Infection-Related Hemolytic Uremic Syndrome	Increased circulating interleukin 6 concentration, Generalized edema, Edema, Pleural empyema, Pal...	ORPHA:544482
Immunodeficiency 68	Lymphadenitis, Recurrent skin infections, Septic arthritis	OMIM:612260
Distal Deletion 12Q	Prominent ear helix, Patent ductus arteriosus, Microtia, Bilateral conductive hearing impairment,...	ORPHA:96149
Skin Creases, Congenital Symmetric Circumferential, 2	Posteriorly rotated ears, Uplifted earlobe, Microtia, Low-set ears, Overfolded helix	OMIM:616734
Meier-Gorlin Syndrome 7	Sensorineural hearing impairment, Microtia, Low-set ears, Hearing impairment	OMIM:617063
Down Syndrome	Conductive hearing impairment, Patent ductus arteriosus, Microtia, Redundant neck skin	OMIM:190685
Myhre Syndrome	Thickened skin, Patent ductus arteriosus, Microtia, Low-set ears, Hearing impairment	OMIM:139210
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Patent ductus arteriosus, Microtia, Posteriorly rotated ears	ORPHA:163979
Treacher-Collins Syndrome	Patent ductus arteriosus, Microtia, Conductive hearing impairment, Abnormality of the middle ear,...	ORPHA:861
Vacterl With Hydrocephalus	Microtia, third degree, Anotia, Abnormality of the outer ear	ORPHA:3412
Adnp Syndrome	Microtia, Low-set ears, Protruding ear	ORPHA:404448
Alzahrani-Kuwahara Syndrome	Dry skin, Eczema	OMIM:619268
Holoprosencephaly 13, X-Linked	Patent ductus arteriosus, Microtia, Low-set ears, Hearing impairment	OMIM:301043
Hereditary Sensory And Autonomic Neuropathy Type 4	Fasciitis, Osteomyelitis, Abnormality of humoral immunity, Septic arthritis, Dry skin, Recurrent ...	ORPHA:642
Ayme-Gripp Syndrome	Posteriorly rotated ears, Sensorineural hearing impairment, Microtia, Low-set ears, Hearing impai...	OMIM:601088
Trichohepatoenteric Syndrome 1	Microtia, Low-set ears	OMIM:222470
Mullegama-Klein-Martinez Syndrome	Sensorineural hearing impairment, Absent stapes, Microtia, Atresia of the external auditory canal...	OMIM:301022
Thalidomide Embryopathy	Anotia, Abnormality of the outer ear, Hearing impairment	ORPHA:3312
Vici Syndrome	Decreased circulating IgG level, Hypopigmentation of hair, Albinism, Decreased T cell activation,...	OMIM:242840
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Mixed hearing impairment, Severe sensorineural hearing impairment, Microtia, Bilateral conductive...	OMIM:620186
Periventricular Nodular Heterotopia 9	Squared superior portion of helix, Microtia, Posteriorly rotated ears	OMIM:618918
Faciodigitogenital Syndrome, Autosomal Recessive	Microtia, Posteriorly rotated ears, Hearing impairment	OMIM:227330
Dominant Beta-Thalassemia	Pallor, Skin ulcer, Chronic hepatitis	ORPHA:231226
Leukocyte Adhesion Deficiency	Chronic oral candidiasis, Sinusitis, Severe periodontitis, Pneumonia, Osteomyelitis, Recurrent sk...	ORPHA:2968
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Acantholysis, Kerat...	ORPHA:95455
Isolated Arrhinia	Microtia	ORPHA:1134
Al Amyloidosis	Xerostomia, Peripheral edema, Increased circulating antibody level	ORPHA:85443
Aapoaiv Amyloidosis	Paraproteinemia	ORPHA:439232
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Seborrheic dermatitis, Hydrops fetalis, Polyhydramnios, Ichthyosis	OMIM:300868
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Patent ductus arteriosus, Microtia, Low-set ears	OMIM:620005
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Hyperkeratosis, Lymphedema	ORPHA:79280
Cystic Echinococcosis	Increased circulating antibody level	ORPHA:400
Cushing Disease	Acne, Paradoxical increased cortisol secretion on dexamethasone suppression test, Skin ulcer, Rec...	ORPHA:96253
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Hyperkeratosis, Microtia, Hearing impairment	OMIM:604292
Cockayne Syndrome B	Sparse hair, Dry hair, Dry skin, Abnormal hair morphology	OMIM:133540
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	High-frequency sensorineural hearing impairment, Mixed hearing impairment, Patent ductus arterios...	OMIM:614557
22Q11.2 Deletion Syndrome	Acne, Impaired T cell function, Seborrheic dermatitis, Arthritis, Chronic otitis media, Purpura	ORPHA:567
Van Esch-O'Driscoll Syndrome	Microtia, Protruding ear	OMIM:301030
Fucosidosis	Generalized hyperkeratosis, Hearing impairment	ORPHA:349
Au-Kline Syndrome	Sensorineural hearing impairment, Microtia	OMIM:616580
Faundes-Banka Syndrome	Cupped ear, Microtia, Long ear, Low-set ears, Conductive hearing impairment	OMIM:619376
Amoebiasis Due To Free-Living Amoebae	Unusual skin infection, Sinusitis, Pneumonia, Pustule, Skin ulcer, Infectious encephalitis	ORPHA:68
Complement Factor I Deficiency	Recurrent skin infections, Glomerulonephritis, Pyelonephritis, Recurrent sinusitis, Recurrent oti...	OMIM:610984
Charge Syndrome	Low-set, posteriorly rotated ears, External ear malformation, Patent ductus arteriosus, Abnormali...	ORPHA:138
Beta-Thalassemia Intermedia	Pallor, Skin ulcer	ORPHA:231222
Estrogen Resistance	Acanthosis nigricans, Acne	OMIM:615363
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Eczema, Seborrheic dermatitis	ORPHA:369950
Epidermolysis Bullosa Simplex With Pyloric Atresia	Microtia	ORPHA:158684
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Increased circulating antibody level	OMIM:606002
Dubowitz Syndrome	Sparse scalp hair, Eczema, Decreased circulating IgA level, Decreased circulating IgG level, Spar...	OMIM:223370
Cockayne Syndrome A	Sparse hair, Dry hair, Dry skin	OMIM:216400
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Episcleritis, Eczema, Keratitis, Erythema, Cheilitis, Uveitis, Scleritis, Hyperkeratosis, Conjunc...	ORPHA:2273
Chand Syndrome	Curly hair, Dry skin, Nail dysplasia	ORPHA:1401
Japanese Encephalitis	Increased circulating IgM level, Increased circulating antibody level, Cerebral edema, Pulmonary ...	ORPHA:79139
Alveolar Echinococcosis	Increased circulating antibody level, Pedal edema, Cutaneous abscess	ORPHA:284
Insensitivity To Pain, Congenital, With Anhidrosis	Keratitis, Osteomyelitis, Acral ulceration	OMIM:256800
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Hyperkeratosis, Hearing impairment	OMIM:615510
Wiedemann-Rautenstrauch Syndrome	Premature skin wrinkling, Hypertriglyceridemia, Pneumonia, Dry skin	OMIM:264090
Gaucher Disease Type 3	Pericardial effusion, Increased circulating antibody level, Hydrops fetalis	ORPHA:77261
Turnpenny-Fry Syndrome	Patent ductus arteriosus, Microtia, Low-set ears, Conductive hearing impairment, Satyr ear	OMIM:618371
Thrombocytopenia-Absent Radius Syndrome	Seborrheic dermatitis, Decreased circulating antibody level	OMIM:274000
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Large earlobe, Hypoplasia of the ear cartilage	ORPHA:1236
Lacrimoauriculodentodigital Syndrome	Mixed hearing impairment, Abnormal pinna morphology, Sensorineural hearing impairment, Cupped ear...	ORPHA:2363
Toriello-Carey Syndrome	Abnormal pinna morphology, Patent ductus arteriosus, Anotia, Low-set ears, Thickened helices, Hea...	ORPHA:3338
Wolf-Hirschhorn Syndrome	Chronic otitis media, Microtia, Low-set, posteriorly rotated ears, Hearing impairment	ORPHA:280
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Palmoplantar cutis laxa, Excessive wrinkled skin, Recurrent pneumonia, Follicular hyperkeratosis	OMIM:225400
Aicardi-Goutieres Syndrome 7	Skin rash, Chilblains, Edema, Pericardial effusion, Atopic dermatitis, Increased circulating anti...	OMIM:615846
Hypothyroidism, Congenital, Nongoitrous, 2	Dry skin	OMIM:218700
Trichorhinophalangeal Syndrome, Type Ii	Chronic gastritis, Redundant skin in infancy, Recurrent pneumonia, Cutis laxa, Recurrent otitis m...	OMIM:150230
Treacher Collins Syndrome 1	Conductive hearing impairment, Microtia, Atresia of the external auditory canal	OMIM:154500
Chronic Graft Versus Host Disease	Fasciitis, Thickened skin, Urinary bladder inflammation, Erythema, Bronchiectasis, Skin ulcer, Ar...	ORPHA:99921
Orofaciodigital Syndrome Type 4	Microtia, third degree, Posteriorly rotated ears, Abnormality of the ear, Low-set ears, Conductiv...	ORPHA:2753
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Redundant neck skin, Microtia, Posteriorly rotated ears, Cutis laxa	ORPHA:96334
Noonan Syndrome 1	Dry skin, Synovitis	OMIM:163950
Chromosome 1P36 Deletion Syndrome, Distal	Posteriorly rotated ears, Thickened helices, Asymmetry of the ears, Sensorineural hearing impairm...	OMIM:607872
Leprechaunism	Thickened skin, Protruding ear, Hyperkeratosis, Low-set ears, Acanthosis nigricans	ORPHA:508
De Sanctis-Cacchione Syndrome	Keratitis, Parakeratosis, Conjunctivitis	OMIM:278800
B4Galt1-Cdg	Inflammatory abnormality of the skin	ORPHA:79332
Fabry Disease	Hyperkeratosis, Hyperlipidemia, Arthritis	ORPHA:324
Immunodeficiency 82 With Systemic Inflammation	Osteomyelitis, Decreased circulating total IgG, Pneumonia, Skin rash, Recurrent skin infections, ...	OMIM:619381
Chondrodysplasia Punctata, Autosomal Dominant	Hyperkeratosis with erythema	OMIM:118650
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Acral ulceration	OMIM:201300
1P36 Deletion Syndrome	Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Patent ductus arteriosus, Mi...	ORPHA:1606
Cysticercosis	Increased circulating antibody level	ORPHA:1560
Hermansky-Pudlak Syndrome	Hyperkeratosis, Thickened skin	ORPHA:79430
Behcet Syndrome	Erythema nodosum, Iridocyclitis, Epididymitis, Arthritis, Iritis	OMIM:109650
Beta-Thalassemia Major	Pallor, Skin ulcer	ORPHA:231214
Ramon Syndrome	Hyperkeratosis, Juvenile rheumatoid arthritis	OMIM:266270
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Skin ulcer	OMIM:245660
Kyphoscoliotic Ehlers-Danlos Syndrome	Sensorineural hearing impairment, Thin skin, Low-set ears, Follicular hyperkeratosis, Conductive ...	ORPHA:536545
Exercise-Induced Malignant Hyperthermia	Dry skin	ORPHA:466650
Pseudoxanthoma Elasticum	Civatte bodies, Cutis laxa	OMIM:264800
Oculocerebrorenal Syndrome Of Lowe	Cheilitis, Skin ulcer, Arthritis, Hyperaldosteronism, Periodontitis, Chronic otitis media, Hyperc...	ORPHA:534
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Decreased circulating IgG level	OMIM:271510
Charge Syndrome	Mixed hearing impairment, Aplasia of the semicircular canal, Sensorineural hearing impairment, Cu...	OMIM:214800
Lysinuric Protein Intolerance	Hypertriglyceridemia, Glomerulonephritis, Decreased circulating antibody level, Abnormality of hu...	ORPHA:470
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Posteriorly rotated ears, Patent ductus arteriosus, Microtia, Low-set ears, Small earlobe	OMIM:619522
Townes-Brocks Syndrome 1	Overfolding of the superior helices, Sensorineural hearing impairment, Microtia, Stahl ear, Satyr...	OMIM:107480
Saethre-Chotzen Syndrome	Prominent crus of helix, Microtia, Low-set ears, Hearing impairment	OMIM:101400
Cog1-Cdg	Low-set, posteriorly rotated ears, Microtia	ORPHA:263508
Atypical Werner Syndrome	Hyperkeratosis, Hypertriglyceridemia, Lack of skin elasticity, Skin ulcer	ORPHA:79474
Koolen-De Vries Syndrome Due To A Point Mutation	Protruding ear, Hyperkeratosis, Ichthyosis, Recurrent otitis media, Macrotia, Hearing impairment	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Protruding ear, Hyperkeratosis, Ichthyosis, Recurrent otitis media, Macrotia, Hearing impairment	ORPHA:363958
Yunis-Varon Syndrome	Redundant neck skin, Sensorineural hearing impairment, Cupped ear, Palmoplantar hyperkeratosis, P...	OMIM:216340
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Microtia, Hearing impairment	OMIM:143095
Branchiooculofacial Syndrome	Posteriorly rotated ears, Sensorineural hearing impairment, Fusion of middle ear ossicles, Microt...	OMIM:113620
Sarcoidosis, Susceptibility To, 1	Pericardial effusion, Pleural effusion, Abnormality of T cell physiology, Increased circulating a...	OMIM:181000
6Q Terminal Deletion Syndrome	Low-set, posteriorly rotated ears, Hyperkeratosis	ORPHA:75857
Marburg Hemorrhagic Fever	Pericarditis, Maculopapular exanthema, Skin rash, Orchitis, Uveitis, Arthritis, Increased circula...	ORPHA:99826
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level	OMIM:618278
Digeorge Syndrome	Acne, Impaired T cell function, Seborrheic dermatitis, Recurrent pneumonia, Recurrent sinusitis, ...	OMIM:188400
Townes-Brocks Syndrome	External ear malformation, Patent ductus arteriosus, Abnormal tragus morphology, Microtia, Overfo...	ORPHA:857
Peters-Plus Syndrome	Posteriorly rotated ears, Patent ductus arteriosus, Protruding ear, Low-set ears, Webbed neck, St...	OMIM:261540
Gaucher Disease	Increased circulating antibody level, Hydrops fetalis, Ichthyosis	ORPHA:355
Pallister-Hall Syndrome	Low-set, posteriorly rotated ears, Patent ductus arteriosus, Microtia, Atresia of the external au...	ORPHA:672
Charcot-Marie-Tooth Disease Type 4B2	Penetrating foot ulcers	ORPHA:99956
C Syndrome	Low-set, posteriorly rotated ears, Redundant skin, Hypoplasia of the ear cartilage	ORPHA:1308
Peters Plus Syndrome	Low-set, posteriorly rotated ears, Patent ductus arteriosus, Webbed neck, Conductive hearing impa...	ORPHA:709
Yellow Fever	Increased circulating IgM level, Increased circulating interleukin 6 concentration, Skin rash	ORPHA:99829
Cushing Syndrome Due To Ectopic Acth Secretion	Acne, Paradoxical increased cortisol secretion on dexamethasone suppression test, Skin ulcer, Rec...	ORPHA:99889
Craniofacial Microsomia 1	Sensorineural hearing impairment, Patent ductus arteriosus, Anotia, Microtia, Atresia of the exte...	OMIM:164210
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Sensorineural hearing impairment, Microtia, Posteriorly rotated ears, Low-set ears	OMIM:309580
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Ecchymosis, Skin ulcer, Bacterial endocarditis	ORPHA:2072
Primary Sclerosing Cholangitis	Pruritus, Pleural effusion, Ascites, Polyclonal elevation of IgM	ORPHA:171
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Dry skin, Recurrent pneumonia	ORPHA:99646
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Skin rash, Perianal abscess, Arthritis, Inflammation of the large intestine, C...	OMIM:301074
Refractory Celiac Disease	Inflammatory abnormality of the skin	ORPHA:398063
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Inflammatory abnormality of the skin, Eczema, Hepatitis, Bronchiectasis, Enterocolitis, Thyroidit...	ORPHA:391487
Aspartylglucosaminuria	Chronic otitis media, Microtia	ORPHA:93
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Inflammatory abnormality of the skin, Pneumonia	ORPHA:26793
Primary Triglyceride Deposit Cardiomyovasculopathy	Inflammatory abnormality of the skin, Pancreatitis, Ichthyosis	ORPHA:565612
Adenocarcinoma Of The Anal Canal	Skin ulcer	ORPHA:424016
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Osteomyelitis leading to amputation due to slow healing fractures, Acral ulceration	OMIM:256810
Cowden Syndrome	Palmoplantar keratoderma, Generalized hyperkeratosis, Hearing impairment	ORPHA:201
Lacrimoauriculodentodigital Syndrome 1	Mixed hearing impairment, Microtia, Cupped ear, Hearing impairment	OMIM:149730
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Orthokeratotic hyperkeratosis, Epidermal thickening, Thickened skin	ORPHA:73223
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Curly hair, Sparse eyebrow, Secretory IgA deficiency, Decreased circulating IgG level, Broad late...	ORPHA:500150
Proteus Syndrome	Thickened skin, Low-set ears, Macrotia, Generalized hyperkeratosis, Narrow internal auditory canal	ORPHA:744
Split Cord Malformation	Penetrating foot ulcers	ORPHA:573278

Histopathology

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

There is no histopathology data for Flg

IMPC related publications

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

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

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Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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