Gene: Nfkbiz MGI:1931595

Registered for phenotyping at IMPC

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

Gene Summary

Name:

nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, zeta

Synonyms:

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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 Nfkbiz 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 Nfkbiz (0 diseases)
Human diseases predicted to be associated with Nfkbiz (1750 diseases)

No human diseases associated to this gene by orthology or annotation.

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

Disease	Matching phenotypes	Source
Hypotrichosis Simplex Of The Scalp	Allergic rhinitis, Atopic dermatitis, Sparse scalp hair, Fine hair, Increased circulating IgE lev...	ORPHA:90368
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Cataract, Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Folliculitis, Keratitis, Carious te...	OMIM:612843
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Sparse eyebrow, Folliculitis, Palmoplantar keratoderma, Keratitis, Dry skin, Corneal dystrophy, N...	OMIM:308800
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Palmoplantar keratoderma, Eczematoid dermatitis, Sparse body hair, Dry skin, Sparse eyelashes, Sl...	OMIM:618535
Neonatal Inflammatory Skin And Bowel Disease	Erythema, Horizontal eyebrow, Chapped lip, Generalized abnormality of skin, Chronic monilial nail...	ORPHA:294023
Clouston Syndrome	Abnormality of the dentition, Alopecia, Sparse eyebrow, Cataract, Small nail, Fine hair, Alopecia...	OMIM:129500
Inflammatory Skin And Bowel Disease, Neonatal, 1	Perianal erythema, Paronychia, Perioral erythema, Increased circulating IgE level, Pustule, Eryth...	OMIM:614328
Quinquaud Folliculitis Decalvans	Erythema, Abnormal hair morphology, Pustule, Patchy alopecia, Scarring alopecia of scalp, Recurre...	ORPHA:346
Ichthyosis With Erythrokeratoderma	Erythema, Palmoplantar keratoderma, Congenital ichthyosiform erythroderma, Leukonychia, Diffuse p...	OMIM:620507
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Posterior blepharitis, Palmoplantar keratoderma, Alopecia totalis, Para...	OMIM:300918
Lichen Planus Pemphigoides	Abnormal oral mucosa morphology, Abnormality of the nail, Skin vesicle, Conjunctivitis, Pruritus,...	ORPHA:254478
Keratoderma Hereditarium Mutilans With Ichthyosis	Alopecia, Palmoplantar keratoderma, Orthokeratosis, Honeycomb palmoplantar hyperkeratosis, Hyperg...	ORPHA:79395
Bathing Suit Ichthyosis	Thickened skin, Alopecia, Nail dystrophy, Ichthyosis, Parakeratosis, Erythroderma, Palmoplantar h...	ORPHA:100976
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Impaired T cell func...	OMIM:240500
Immunodeficiency, Common Variable, 1	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Impaired ...	OMIM:607594
Familial Reactive Perforating Collagenosis	Hyperkeratotic papule, Abnormal epidermal morphology, Inflammatory abnormality of the skin, Eryth...	ORPHA:79147
Ichthyosis, Congenital, Autosomal Recessive 1	Alopecia, Congenital ichthyosiform erythroderma, Nail dystrophy, Ichthyosis, Nail dysplasia, Para...	OMIM:242300
Ulerythema Ophryogenesis	Hyperkeratotic papule, Sparse lateral eyebrow, Dry skin, Facial erythema, Follicular hyperkeratos...	ORPHA:3406
Odonto-Onycho Dysplasia-Alopecia Syndrome	Tooth malposition, Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Sparse body hair, Abnormal...	ORPHA:2722
Erosive Pustular Dermatosis Of The Scalp	Abnormal hair morphology, Erythema, Scarring alopecia of scalp, Pustule	ORPHA:222
Ichthyosis, Congenital, Autosomal Recessive 11	Sparse eyebrow, Blepharitis, Sparse body hair, Curly eyelashes, Curly hair, Sparse eyelashes, Pil...	OMIM:602400
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level, Atrophic scars, Milia, Dermal atrophy, Nail dystrophy, Abnormal ...	ORPHA:89843
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Sparse eyebrow, Congenital alopecia totalis, Generalized hyperkeratosis, Dry skin, Alopecia of sc...	ORPHA:2269
Dermatitis, Atopic	Allergic rhinitis, Atopic dermatitis, Keratoconus, Cataract, Eczematoid dermatitis, Pruritus, Dry...	OMIM:603165
Psoriasis 2	Psoriasiform dermatitis, Parakeratosis, Scaling skin, Epidermal acanthosis, Hyperkeratosis	OMIM:602723
Classic Mycosis Fungoides	Erythema, Alopecia, Eczematoid dermatitis, Skin ulcer, Dry skin, Skin rash, Abnormal eyelid morph...	ORPHA:2584
Ichthyosis, Congenital, Autosomal Recessive 6	Orthokeratosis, Palmoplantar keratoderma, Dry skin, Parakeratosis, Epidermal acanthosis, Erythrod...	OMIM:612281
Candidiasis, Familial, 1	Cutaneous anergy, Alopecia, Chronic mucocutaneous candidiasis, Premature loss of teeth	OMIM:114580
Dissecting Cellulitis Of The Scalp	Abnormal hair morphology, Pruritus, Recurrent skin infections, Edema	ORPHA:345
Pruritic Urticarial Papules And Plaques Of Pregnancy	Pruritus on foot, Erythematous papule, Eczematoid dermatitis, Pruritis on breast, Urticarial plaq...	ORPHA:64745
Tularemia	Pneumonia, Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal ad...	ORPHA:3392
Immunodeficiency, Common Variable, 3	Abnormal T cell count, Chronic decreased circulating total IgG, Recurrent otitis media, Decreased...	OMIM:613493
Hypotrichosis 6	Erythema, Sparse eyebrow, Sparse eyelashes, Pili torti, Follicular hyperkeratosis, Brittle hair, ...	OMIM:607903
Verrucous Hemangioma	Skin plaque, Hyperkeratotic papule, Epidermal acanthosis, Inflammatory abnormality of the skin	ORPHA:464318
Ichthyosis, Annular Epidermolytic, 1	Erythema, Skin erosion, Orthokeratosis, Hyperparakeratosis, Abnormal hair morphology, Erythematou...	OMIM:607602
Ichthyosis, Congenital, Autosomal Recessive 14	Erythema, Orthokeratotic hyperkeratosis, Scaling skin, Pruritus, Hyperkeratosis, Congenital nonbu...	OMIM:617571
Porokeratosis Plantaris Palmaris Et Disseminata	Hyperkeratotic papule, Porokeratosis, Palmoplantar hyperkeratosis, Skin plaque, Pruritus, Annular...	ORPHA:737
Hydroa Vacciniforme	Papulovesicular eruption, Erythema, Red eye, Keratitis, Eczematoid dermatitis, Malar rash, Superf...	ORPHA:330058
Chilblain Lupus	Discoid lupus rash, Inflammatory abnormality of the skin, Erythematous papule, Skin ulcer, Malar ...	ORPHA:90280
Olmsted Syndrome 2	Sparse hair, Alopecia universalis, Palmoplantar keratoderma, Perioral hyperkeratosis, Woolly hair...	OMIM:619208
Netherton Syndrome	Allergic rhinitis, Decreased circulating IgG level, Brittle scalp hair, Sparse eyebrow, Eczematoi...	OMIM:256500
Infantile Digital Fibromatosis	Skin nodule, Parakeratosis, Epidermal acanthosis, Hyperkeratosis	ORPHA:199267
Graham Little-Piccardi-Lassueur Syndrome	Alopecia, Sparse pubic hair, Sparse scalp hair, Sparse axillary hair, Pruritus, Perifollicular hy...	ORPHA:505
Erythrokeratodermia Variabilis Et Progressiva 6	Abnormal hair morphology, Erythematous plaque, Superficial dermal perivascular inflammatory infil...	OMIM:618531
Ifap Syndrome 2	Cataract, Atrichia, Posterior blepharitis, Keratitis, Perioral erythema, Nail dystrophy, Angular ...	OMIM:619016
Palmoplantar Keratoderma, Norrbotten Recessive Type	Recurrent cutaneous fungal infections, Papule, Palmoplantar keratoderma, Hyperkeratosis	OMIM:244850
Ectodermal Dysplasia-Skin Fragility Syndrome	Alopecia universalis, Cheilitis, Recurrent pneumonia, Palmoplantar keratoderma, Carious teeth, Ch...	ORPHA:158668
Kerion Celsi	Alopecia, Inflammatory abnormality of the skin, Recurrent skin infections, Recurrent cutaneous ab...	ORPHA:499
Vulvovaginal Gingival Syndrome	Erythema, Skin erosion, Abnormality of tumor necrosis factor secretion, Ridged nail, Parakeratosi...	ORPHA:83453
Krt1-Related Diffuse Nonepidermolytic Keratoderma	Atopic dermatitis, Erythema, Dry skin, Palmoplantar scaling skin, Diffuse palmoplantar hyperkerat...	ORPHA:530838
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Recurrent otitis media, Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Splenomegaly, Lymph...	OMIM:618495
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati...	OMIM:612692
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Perifolliculitis, Alopecia, Alopecia of scalp	OMIM:260910
Pachyonychia Congenita 3	Palmoplantar keratoderma, Oral leukoplakia, Chapped lip, Onychogryposis of toenails, Furrowed ton...	OMIM:615726
Ichthyosis, Hystrix-Like, With Deafness	Sparse eyebrow, Palmoplantar keratoderma, Cobblestone-like hyperkeratosis, Sparse eyelashes, Abse...	OMIM:602540
Acrodermatitis Enteropathica	Erythema, Alopecia, Ridged fingernail, Blepharitis, Skin ulcer, Generalized abnormality of skin, ...	ORPHA:37
Bazex Syndrome	Yellow nails, Palmoplantar keratoderma, Nail dystrophy, Parakeratosis, Acanthosis nigricans, Scal...	ORPHA:166113
Diffuse Palmoplantar Keratoderma, Bothnian Type	Erythema, Papule, Skin ulcer, Diffuse palmoplantar hyperkeratosis, Pruritus	ORPHA:2337
Autosomal Dominant Epidermolytic Ichthyosis	Palmoplantar keratoderma, Skin ulcer, Ichthyosis, Conjunctival hamartoma, Erythroderma, Hyperkera...	ORPHA:312
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Skin rash, Splenomegaly, Hepatomegaly, Jaundice, Lymphadenopathy, Neutropenia, ...	OMIM:603552
Lichen Planopilaris	Papule, Alopecia, Hepatitis, Hypopigmented skin patches, Skin ulcer, Abnormal fingernail morpholo...	ORPHA:525
Acral Peeling Skin Syndrome	Erythema, Skin erosion, Eczematoid dermatitis, Excessive wrinkling of palmar skin, Ichthyosis, Ma...	ORPHA:263534
Ichthyosis, Congenital, Autosomal Recessive 5	Orthokeratosis, Palmoplantar keratoderma, White scaling skin, Parakeratosis, Erythroderma, Epider...	OMIM:604777
Erythrokeratodermia Variabilis	Erythema, Alopecia, Cataract, Abnormal hair morphology, Dry skin, Patchy palmoplantar hyperkerato...	ORPHA:317
Poikiloderma With Neutropenia	Sparse eyebrow, Recurrent pneumonia, Palmoplantar keratoderma, Sparse lateral eyebrow, Carious te...	OMIM:604173
Dowling-Degos Disease 4	Papule, Epidermal acanthosis, Pruritus, Hypergranulosis	OMIM:615696
Peeling Skin Syndrome 6	Atopic dermatitis, Orthokeratosis, Dry skin, Parakeratosis, Scaling skin, Pruritus	OMIM:618084
Immunodeficiency, Common Variable, 8, With Autoimmunity	Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Psoriasiform lesion, E...	OMIM:614700
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Predominantly dermal neutrophilic infiltrate, Psoriasiform lesion, Superficial dermal perivascula...	ORPHA:284426
Pili Torti-Onychodysplasia Syndrome	Alopecia universalis, Alopecia, Cleft lip, Palmoplantar keratoderma, Eczematoid dermatitis, Spars...	ORPHA:2890
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Abnormality of the dentition, Recurrent upper respiratory tract infections, Eczematoid dermatitis...	OMIM:615952
Ichthyosis Hystrix, Curth-Macklin Type	Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin	OMIM:146590
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Splenomegaly, Petechiae, Thrombocytopenia, Hepatomegaly, Mediastinal lymp...	ORPHA:158029
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level, Palmoplantar hyperkeratosis, Palmar hyperkeratosis, Plantar hype...	OMIM:144200
Lipoid Proteinosis Of Urbach And Wiethe	Thickened skin, Skin erosion, Reduced epidermal extracellular matrix protein 1 protein expression...	OMIM:247100
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Atopic dermatitis, Alopecia, Recurrent pneumonia, Abnormality of the dentition, Eczematoid dermat...	OMIM:618282
Elastosis Perforans Serpiginosa	Hyperkeratotic papule, Erythematous papule, Skin-colored papule, Crusting erythematous dermatitis...	ORPHA:79148
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Atopic dermatitis, Decreased circulating IgG level, Cutaneous abscess, Recurrent otitis media, In...	OMIM:618944
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Decreased circulating IgG level, Inflammation of the large intestine, Conical tooth, Eczematoid d...	ORPHA:98813
Epidermolytic Hyperkeratosis 1	Palmoplantar hyperkeratosis, Erythroderma, Scaling skin, Epidermal acanthosis, Congenital bullous...	OMIM:113800
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Cataract, Erythema, Bronchiolitis, Decreased circulating IgA level, Interstitial pneumonitis, Ent...	OMIM:614878
Panniculitis-Induced Localized Lipodystrophy	Erythema, Inflammatory abnormality of the skin, Reduced subcutaneous adipose tissue, Abnormal imm...	ORPHA:90159
Keratosis Palmoplantaris Striata Ii	Abnormal hair morphology, Epidermal acanthosis, Palmoplantar keratoderma, Abnormality of the nail	OMIM:612908
Flotch Syndrome	Abnormality of the nail, Sparse eyelashes, Abnormal eyelid morphology, Inflammatory abnormality o...	ORPHA:2045
Sézary Syndrome	Dry skin, Abnormal lymphocyte morphology, Abnormal pleura morphology, Splenomegaly, Abnormal immu...	ORPHA:3162
Immunodeficiency 46	Recurrent sinopulmonary infections, Neutropenia, Chronic oral candidiasis, Anemia, Conjunctivitis...	OMIM:616740
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Erythematous...	OMIM:173200
Ichthyosis With Confetti	Hypertrichosis, Ichthyosis, Hypoplastic nipples, Erythroderma, Palmoplantar hyperkeratosis, Scali...	OMIM:609165
Mal De Meleda	Erythema, Inflammatory abnormality of the skin, Palmoplantar keratoderma, Superficial dermal peri...	ORPHA:87503
Porokeratosis Of Mibelli	Aplasia/Hypoplasia of the skin, Pruritus, Hyperkeratosis, Porokeratosis	ORPHA:735
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma	Honeycomb palmoplantar hyperkeratosis, Ichthyosis, Nail dystrophy, Linear arrays of macular hyper...	OMIM:601952
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Panhypogammaglobulinemia, Otitis media, Purulent rhinitis, Arthritis, B lymphocytopeni...	OMIM:601457
Aquagenic Palmoplantar Keratoderma	Atopic dermatitis, Palmoplantar keratoderma, Edema, Orthokeratotic hyperkeratosis, White papule, ...	ORPHA:498359
Pemphigus Foliaceus	Erythema, Skin erosion, Psoriasiform dermatitis, Erythematous plaque, Crusting erythematous derma...	ORPHA:79481
Lamellar Ichthyosis	Abnormality of the dentition, Dry skin, Lack of skin elasticity, Erythroderma, Everted lower lip ...	ORPHA:313
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Skin erosion, Dystrophic toenail, Nevus, Abnormal fingernail morphology, Atrophic scars, Ridged n...	ORPHA:89838
Netherton Syndrome	Sparse eyebrow, Eczematoid dermatitis, Fine hair, Dehydration, Abnormal hair morphology, Trichorr...	ORPHA:634
Acne Inversa, Familial, 3	Chronic furunculosis, Perifolliculitis, Acne inversa, Recurrent cutaneous abscess formation	OMIM:613737
Ichthyosis Prematurity Syndrome	Allergic rhinitis, Dermatographic urticaria, Alopecia of scalp, Follicular hyperkeratosis, Erythr...	OMIM:608649
Pityriasis Rubra Pilaris	Papule, Subungual hyperkeratosis, Thickened skin, Palmoplantar keratoderma, Eczematoid dermatitis...	ORPHA:2897
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Erythema, Palmoplantar keratoderma, Leukonychia, Nail dystrophy, Ichthyosis, Woolly hair, Paraker...	OMIM:615821
Insulin-Resistance Syndrome Type A	Generalized hirsutism, Subcutaneous nodule, Hyperkeratosis	ORPHA:2297
Peeling Skin Syndrome 5	Epidermal acanthosis, Hyperkeratosis, Scaling skin	OMIM:617115
Chilblain Lupus 2	Cutaneous photosensitivity, Chilblains	OMIM:614415
Palmoplantar Keratoderma, Nagashima Type	Orthokeratotic hyperkeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis, Hypergranulosis	OMIM:615598
Immunodeficiency 51	Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous absc...	OMIM:613953
Hyperkeratosis Lenticularis Perstans	Skin ulcer, Hyperkeratosis lenticularis perstans, Aplasia/Hypoplasia of the skin, Pruritus, Papule	ORPHA:409
Congenital Ichthyosiform Erythroderma	Alopecia, Palmoplantar keratoderma, Keratitis, Erythroderma, Ectropion, Pruritus, Abnormality of ...	ORPHA:79394
Hidrotic Ectodermal Dysplasia	Thickened skin, Small nail, Sparse eyelashes, Absent eyebrow, Absent axillary hair, Sparse hair, ...	ORPHA:189
Acquired Ichthyosis	Erythema, Palmoplantar keratoderma, Dry skin, Recurrent skin infections, Pruritus, Hyperkeratosis	ORPHA:454
Keratosis, Focal Palmoplantar And Gingival	Gingival hyperkeratosis, Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkerat...	OMIM:148730
Olmsted Syndrome 1	Alopecia universalis, Subungual hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis, Hyperpa...	OMIM:614594
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Increased circulat...	ORPHA:169154
Epidermolysis Bullosa Simplex 1C, Localized	Milia, Hyperkeratosis	OMIM:131800
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Conjunctivitis, Arthritis, Urticaria	OMIM:617772
Kid Syndrome	Trichilemmoma, Posterior blepharitis, Aplastic/hypoplastic lacrimal glands, Psoriasiform dermatit...	ORPHA:477
Alopecia Universalis Congenita	Alopecia universalis, Absent eyelashes, Absent eyebrow, Absent pubic hair, Absent axillary hair	OMIM:203655
Erythrokeratodermia Variabilis Et Progressiva 5	Abnormal hair morphology, Palmoplantar hyperkeratosis, Hyperkeratosis, Onychogryposis	OMIM:617756
X-Linked Agammaglobulinemia	Recurrent pneumonia, Abnormal lung morphology, Hepatitis, Skin ulcer, Osteomyelitis, Skin rash, G...	ORPHA:47
Inflammatory Skin And Bowel Disease, Neonatal, 2	Recurrent pneumonia, Increased circulating IgE level, Long eyelashes, Pustule, Polyhydramnios, De...	OMIM:616069
Anonychia With Flexural Pigmentation	Abnormal hair morphology, Alopecia of scalp, Follicular hyperkeratosis, Anonychia, Hypermelanotic...	ORPHA:69125
Palmoplantar Keratoderma And Congenital Alopecia 2	Alopecia totalis, Dry skin, Nail dystrophy, Nail dysplasia, Facial erythema, Palmoplantar hyperke...	OMIM:212360
Congenital Panfollicular Nevus	Skin nodule, Hyperkeratosis, Verrucous papule	ORPHA:139414
Psoriasis 14, Pustular	Erythema, Psoriasiform dermatitis, Nail dystrophy, Pustule, Parakeratosis, Oligoarthritis, Cholan...	OMIM:614204
Peeling Skin Syndrome 4	Orthokeratosis, Palmoplantar keratoderma, Nail dystrophy, Ichthyosis, Scaling skin, Epidermal aca...	OMIM:607936
Hypotrichosis Simplex	Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse hair, Sparse scalp hair	ORPHA:55654
Peeling Skin Syndrome 1	Increased circulating IgE level, Nail dystrophy, Onycholysis, Erythroderma, Scaling skin, Brittle...	OMIM:270300
Vohwinkel Syndrome, Variant Form	Orthokeratosis, Honeycomb palmoplantar hyperkeratosis, Hypergranulosis, Abnormal hair morphology,...	OMIM:604117
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Self-injurious behavior, Parakeratosis, Subcutaneous nodule, Hyperkeratosis, Agitation	OMIM:618339
Adult-Onset Still Disease	Neutrophilia, Bone marrow hypocellularity, Erythema, Hepatitis, Interstitial pneumonitis, Skin ra...	ORPHA:829
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Alopecia universalis, Abnormality of the dentition, Periodontitis, Sparse body hair, Gingivitis, ...	ORPHA:1008
Drug Reaction With Eosinophilia And Systemic Symptoms	Erythema, Hepatitis, Angioedema, Interstitial pneumonitis, Skin rash, Infectious encephalitis, Pu...	ORPHA:139402
Atrophoderma Vermiculata	Hyperkeratotic papule, Erythema, Abnormal epidermal morphology, Hypoplastic pilosebaceous units, ...	ORPHA:79100
Atopic Keratoconjunctivitis	Keratitis, Dry skin, Allergic conjunctivitis, Corneal scarring, Corneal neovascularization, Loss ...	ORPHA:163934
Hypotrichosis 4	Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair	OMIM:146550
White Sponge Nevus 2	Epidermal acanthosis, Edema, Hyperparakeratosis	OMIM:615785
Cutaneous Small Vessel Vasculitis	Erythema, Cutis marmorata, Skin rash, Abnormal oral cavity morphology, Recurrent skin infections,...	ORPHA:889
Erythema Nodosum, Familial	Erythema, Erythema nodosum	OMIM:132990
Cutaneous Mastocytoma	Erythema, Skin erosion, Thickened skin, Erythematous papule, Skin nodule, Hypermelanotic macule, ...	ORPHA:79455
Ichthyosis, Annular Epidermolytic, 2	Erythema, Skin erosion, Orthokeratosis, Palmoplantar keratoderma, Ichthyosis, Palmoplantar hyperk...	OMIM:620148
Pressure-Induced Localized Lipoatrophy	Erythema, Inflammatory abnormality of the skin, Reduced subcutaneous adipose tissue	ORPHA:90160
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails, Dermal atrophy, Alope...	OMIM:617294
Vernal Keratoconjunctivitis	Red eye, Keratoconus, Abnormal cornea morphology, Allergic conjunctivitis, Corneal neovasculariza...	ORPHA:70476
Peeling Skin Syndrome 3	Abnormal hair morphology, Erythema, White scaling skin, Pruritus	OMIM:616265
Idiopathic Localized Lipodystrophy	Erythema, Inflammatory abnormality of the skin, Morphea, Scleroderma, Scaling skin, Pruritus	ORPHA:90158
Ichthyosis, Congenital, Autosomal Recessive 10	Palmoplantar keratoderma, Hypergranulosis, Orthokeratotic hyperkeratosis, Erythroderma, Generaliz...	OMIM:615024
Cutaneous Collagenous Vasculopathy	Erythema, Bruising susceptibility, Vascular skin abnormality, Skin rash, Petechiae, Diffuse telan...	ORPHA:280779
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Erythema, Dystrophic toenail, Crusting erythematous dermatitis, Dystrophic fingernails, Telangiec...	ORPHA:158673
Autosomal Agammaglobulinemia	Bronchiectasis, Hepatitis, Osteomyelitis, Skin rash, High palate, Agammaglobulinemia, Epicanthus,...	ORPHA:33110
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant	Palmoplantar keratoderma, Generalized hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplant...	OMIM:620150
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, D...	OMIM:615513
Hypotrichosis 11	Alopecia universalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Absent axill...	OMIM:615059
Plague	Inflammation of the large intestine, Mydriasis, Lymphadenitis, Skin ulcer, Chapped lip, Dry skin,...	ORPHA:707
Candidiasis, Familial, 8	Seborrheic dermatitis, Macroglossia, Cheilitis, Blepharitis, Chronic oral candidiasis	OMIM:615527
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Supernumerary nipple, Sparse body hair, Sparse eyelashes, Absent eyelashes, Ectodermal dysplasia,...	OMIM:106260
Erythrokeratodermia Variabilis Et Progressiva 1	Hypergranulosis, Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Erythroderma, Ep...	OMIM:133200
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1	Follicular hyperkeratosis, Perioral hyperkeratosis, Palmoplantar keratoderma, Congenital bullous ...	OMIM:613000
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Hypermelanotic macule, Plantar hyperkeratosis, Milia, Nail dystrophy, Hypomelanotic macule, Spott...	ORPHA:79399
Ichthyosis, Congenital, Autosomal Recessive 13	Palmoplantar hyperkeratosis, Ichthyosis, Hyperkeratosis, Hypergranulosis	OMIM:617574
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Leukonychia, Nail dysplasia, Palmoplantar ery...	OMIM:104100
Proteasome-Associated Autoinflammatory Syndrome 3	Periorbital edema, Lymphopenia, Skin rash, Splenomegaly, Increased circulating antibody level, My...	OMIM:617591
Ichthyosis, Lamellar, Autosomal Dominant	Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:146750
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Palmoplantar keratoderma, Orthokeratosis, Hypergranulosis, Increased circulating IgE level, Psori...	OMIM:615508
Chromomycosis	Hyperkeratotic papule, Atypical scarring of skin, Predominantly lower limb lymphedema, Keratitis,...	ORPHA:182
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Epidermal acanthosis, Hyperkeratosis	OMIM:615028
Ige Responsiveness, Atopic	Allergic rhinitis, Increased circulating IgE level, Eczematoid dermatitis	OMIM:147050
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased lymphocyte proliferation in response to anti-CD3, Increased circulating IgE level, Hepa...	OMIM:606367
Ectodermal Dysplasia/Skin Fragility Syndrome	Alopecia of scalp, Nail dystrophy, Absent eyelashes, Dystrophic fingernails, Absent eyebrow, Palm...	OMIM:604536
Erythrokeratodermia Variabilis Et Progressiva 2	Erythema, Palmoplantar keratoderma, Hypertrichosis	OMIM:617524
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased lymphocyte proliferati...	ORPHA:169160
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Disseminated mollu...	OMIM:617638
Adult Syndrome	Absent nipple, Fair hair, Eczematoid dermatitis, Premature loss of permanent teeth, Breast hypopl...	OMIM:103285
Hyperkeratosis-Hyperpigmentation Syndrome	Papule, Multiple cafe-au-lait spots, Hyperkeratosis	ORPHA:1336
Familial Cold Urticaria	Erythema, Arthritis, Conjunctivitis, Pruritus, Dehydration, Urticaria	ORPHA:47045
Familial Hemophagocytic Lymphohistiocytosis	Hemophagocytosis, Erythroderma, Neutropenia, Reduced natural killer cell activity, Hepatomegaly, ...	ORPHA:540
Ichthyosis, Congenital, Autosomal Recessive 7	Palmoplantar keratoderma, Hypergranulosis, Ichthyosis, Erythroderma, Epidermal acanthosis	OMIM:615022
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C...	ORPHA:37042
Graft Versus Host Disease	Pneumonia, Inflammatory abnormality of the skin, Decreased lacrimation, Hemophagocytosis, Fasciit...	ORPHA:39812
Reticulate Acropigmentation Of Kitamura	Hyperkeratosis, Macule	OMIM:615537
Caspase 8 Deficiency	Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Decreased CD4:CD8 ratio, Decre...	OMIM:607271
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Alopecia, Sparse eyebrow, Orthokeratosis, Dry skin, Ichthyosis, Sclerosing cholangitis, Sparse ey...	OMIM:607626
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Recurrent otitis media, Facial papilloma, Autoimmune hemolytic anemia, ...	OMIM:619220
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Psoriasiform dermatitis, Blepharitis, Developmental cataract	OMIM:616834
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level, Late onset atopic dermatitis	OMIM:221700
Erythrokeratodermia Variabilis Et Progressiva 4	Erythema, Palmoplantar hyperkeratosis, Epidermal acanthosis, Hyperkeratosis, Congenital nonbullou...	OMIM:617526
Agammaglobulinemia, X-Linked	Recurrent otitis media, Lymph node hypoplasia, Prostatitis, Neutropenia, Recurrent lower respirat...	OMIM:300755
Familial Cold Autoinflammatory Syndrome 1	Uveitis, Aphthous ulcer, Skin rash, Arthritis, Conjunctivitis, Urticaria	OMIM:120100
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Abnormal sweat gland morphology, Alopecia, Predominantly lower limb lymphedema, Nonimmune hydrops...	OMIM:607823
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Dry skin, Leukonychia, Angular cheilitis, Onycholysis, Epidermal acanthosis, Follicular hyperkera...	OMIM:616295
Transgrediens Et Progrediens Palmoplantar Keratoderma	Dystrophic toenail, Diffuse palmoplantar hyperkeratosis, Dystrophic fingernails, Recurrent cutane...	ORPHA:495
Dermatofibrosarcoma Protuberans	Erythema, Subcutaneous nodule, Skin ulcer, Thickened skin	ORPHA:31112
Bullous Impetigo	Pustule, Erythema, Septic arthritis, Recurrent bacterial skin infections	ORPHA:36237
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Herpes simplex encephalitis, Recurrent otitis media, Increased circulating IgE level, Hepatosplen...	OMIM:618982
Parc Syndrome	Absent eyelashes, Alopecia, Absent eyebrow, Cleft palate	OMIM:600331
Ichthyosis Hystrix Of Curth-Macklin	Ichthyosis, Nail dystrophy, Diffuse palmoplantar hyperkeratosis, Recurrent skin infections, Hyper...	ORPHA:79503
Omenn Syndrome	Pneumonia, Edema, Dry skin, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatomeg...	ORPHA:39041
Immunodeficiency 40	Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Inters...	OMIM:616433
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Recurrent upper respiratory tract infections, Interstitial pneumonitis, Splenomegaly, Petechiae, ...	OMIM:620296
Dowling-Degos Disease 2	Hyperkeratotic papule, Follicular hyperkeratosis, Hypomelanotic macule	OMIM:615327
Hypohidrotic Ectodermal Dysplasia	Abnormality of the dentition, Generalized hypopigmentation of hair, Xerostomia, Eczematoid dermat...	ORPHA:238468
Paroxysmal Hemicrania	Epiphora, Conjunctival hyperemia, Ptosis, Palpebral edema, Rhinitis	ORPHA:157835
Meige Disease	Facial edema, Predominantly lower limb lymphedema, Skin erosion, Atypical scarring of skin, Skin ...	ORPHA:90186
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Plantar hyperkeratosis, Alopecia, Pruritus, Nail dystrophy	OMIM:616487
Palmoplantar Keratoderma, Punctate Type Iii	Acrokeratosis, Hyperkeratosis	OMIM:101850
Primary Sjögren Syndrome	Arteritis, Xerostomia, Lymphopenia, Dry skin, Chronic hepatitis, Decreased proportion of CD4-posi...	ORPHA:289390
Igg4-Related Ophthalmic Disease	Increased circulating IgE level, Prostatitis, Abnormal lacrimal gland morphology, Abnormality of ...	ORPHA:449563
Zika Virus Disease	Myelitis, Pruritus, Subcutaneous hemorrhage, Skin rash, Infectious encephalitis, Arthritis, Lens ...	ORPHA:448237
Necrobiosis Lipoidica	Erythema, Indurated nodule, Inflammatory abnormality of the skin, Abnormality of neutrophil physi...	ORPHA:542592
Periodic Fever, Familial, Autosomal Dominant	Periorbital edema, Erysipelas, Hepatic amyloidosis, Cervical lymphadenopathy, Skin rash, Myositis...	OMIM:142680
Sunct Syndrome	Facial edema, Epiphora, Increased tear production, Conjunctival hyperemia, Ptosis, Facial erythem...	ORPHA:57145
Keratolytic Winter Erythema	Pustule, Erythema	ORPHA:50943
Pseudopelade Of Brocq	Alopecia, Abnormal hair morphology, Recurrent skin infections, Aplasia/Hypoplasia of the eyebrow,...	ORPHA:129
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level...	OMIM:618534
Macrocephaly-Developmental Delay Syndrome	Recurrent pneumonia, Downslanted palpebral fissures, Hepatosplenomegaly, Narrow palpebral fissure...	ORPHA:397612
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Skin vesicle, Pruritus, Erythema migrans, Parakeratosis	ORPHA:158681
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Hyperkeratotic papule, Alopecia, Milia, Nail dystrophy, Hypomelanotic macule, Spotty hypopigmenta...	ORPHA:79397
Centrifugal Lipodystrophy	Erythema, Alopecia, Inflammatory abnormality of the skin, Lymphadenitis, Reduced subcutaneous adi...	ORPHA:90156
Pneumocystosis	Interstitial pneumonitis, Pleural effusion, Increased circulating antibody level, Multiple pulmon...	ORPHA:723
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Dental crowding, Keratitis, Eczematoid dermatitis, Recurrent otitis media, Increased circulating ...	OMIM:618523
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection	Pyoderma gangrenosum, Chronic furunculosis, Cutaneous abscess	OMIM:619986
Chronic Beryllium Disease	Mediastinal lymphadenopathy, Reticulonodular pattern on pulmonary HRCT, Lymphocytic interstitial ...	ORPHA:133
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Recurrent pneumonia, Inflammatory abnormality of the skin, Recurrent upper respiratory tract infe...	ORPHA:277
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Decreased CD4:CD8 ...	OMIM:300853
Juvenile Temporal Arteritis	Allergic rhinitis, Conjunctivitis, Eosinophilia, Leukocytosis	ORPHA:26137
Immunodeficiency 104	Pneumonia, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Recurrent otitis media, Otit...	OMIM:608971
Prolidase Deficiency	Erythema, Papule, Palmoplantar keratoderma, Skin ulcer, Abnormal fingernail morphology, Dry skin,...	ORPHA:742
Immunodeficiency 85 And Autoimmunity	Decreased proportion of memory B cells, Reduced natural killer cell count, Decreased circulating ...	OMIM:619510
Dracunculiasis	Skin ulcer, Skin rash, Arthritis, Subcutaneous nodule, Pruritus, Recurrent cutaneous abscess form...	ORPHA:231
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Alopecia, Lymphedema, Palpebral edema, Sparse eyelashes, Absent eyelashes, Epicanthus, Nonimmune ...	OMIM:137940
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Keratitis, Long philtrum, Downslanted palpebral fissures, Recurrent otitis media, Thick eyebrow, ...	OMIM:602562
Proliferating Trichilemmal Cyst	Skin ulcer, Sparse scalp hair, Epidermoid cyst	ORPHA:492
Epidermolysis Bullosa Dystrophica, Pretibial	Atrophic scars, Pruritus, Hyperkeratosis, Nail dystrophy	OMIM:131850
Reticular Dysgenesis	Aplasia/Hypoplasia of the thymus, Recurrent respiratory infections, Skin ulcer, Leukopenia, Skin ...	ORPHA:33355
Ichthyosis, Congenital, Autosomal Recessive 9	Orthokeratosis, Hypergranulosis, Erythroderma, Ectropion, Epidermal acanthosis, Hyperkeratosis, C...	OMIM:615023
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Dermatochalasis, Reduced natural killer cell count, Decreased lymphocyte proliferation in respons...	ORPHA:221139
Immunodeficiency 58	Allergic rhinitis, Molluscum contagiosum, Esophagitis, Psoriasiform lesion, Dysphagia, Chronic ot...	OMIM:618131
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of a...	ORPHA:231154
Agel Amyloidosis	Cataract, Tongue atrophy, Xerostomia, Bilateral ptosis, Dry skin, Blepharochalasis, Respiratory t...	ORPHA:85448
Porokeratosis 3, Multiple Types	Parakeratosis, Nail dystrophy, Porokeratosis	OMIM:175900
Hypocomplementemic Urticarial Vasculitis	Angioedema, Emphysema, Ascites, Reduced circulating complement concentration, Episcleritis, Skin ...	ORPHA:36412
Acrokeratosis Verruciformis	Ridged nail, Verrucous papule, Acrokeratosis, Epidermal acanthosis, Punctate palmoplantar hyperke...	OMIM:101900
Sjögren-Larsson Syndrome	Erythema, Abnormal dental enamel morphology, Dry skin, Inflammatory abnormality of the eye, Hyper...	ORPHA:816
Acute Generalized Exanthematous Pustulosis	Facial edema, Pruritus, Cholestasis, Predominantly dermal neutrophilic infiltrate, Leukocytosis, ...	ORPHA:293173
Trichothiodystrophy 1, Photosensitive	Cataract, Microcornea, Decreased circulating IgG level, Small nail, Fine hair, Trichorrhexis nodo...	OMIM:601675
Ectodermal Dysplasia 4, Hair/Nail Type	Abnormal sweat gland morphology, Alopecia, Abnormality of the dentition, Hair-nail ectodermal dys...	OMIM:602032
Kondoh Syndrome	Atopic dermatitis, Long philtrum, Thick eyebrow, Thin upper lip vermilion, Ptosis, Sparse hair, W...	OMIM:606242
Chilblain Lupus 1	Chilblains, Skin ulcer, Abnormality of the nail	OMIM:610448
Erythrokeratoderma ''En Cocardes''	Papule, Hyperkeratosis	ORPHA:315
Intellectual Developmental Disorder, Fra12A Type	Hyperkeratosis, Erythroderma	OMIM:136630
Autoinflammation With Arthritis And Dyskeratosis	Dry skin, Hypereosinophilia, Corneal neovascularization, Autoimmune hemolytic anemia, Splenomegal...	OMIM:617388
Immunodeficiency 52	Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulat...	OMIM:617514
Immunodeficiency 25	Recurrent pneumonia, Increased circulating IgE level, Complete or near-complete absence of specif...	OMIM:610163
Igg4-Related Kidney Disease	Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Increased circulating IgE level, ...	ORPHA:449395
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymphopenia, Lymph node hypoplasia, Decreased proportion of CD4-positive helper T cells, Abnormal...	ORPHA:276
Ectodermal Dysplasia 6, Hair/Nail Type	Alopecia, Hair-nail ectodermal dysplasia, Thin toenail, Dystrophic toenail, Sparse hair	OMIM:614928
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Predominantly lower limb lymphedema, Alopecia, Sparse body hair, Ascites, Dermal atrophy, Pleural...	ORPHA:69735
C1Q Deficiency 2	Discoid lupus rash, Recurrent otitis media, Malar rash, Chilblains, Oral ulcer, Facial erythema, ...	OMIM:620321
Acral Self-Healing Collodion Baby	Erythema, Palmoplantar scaling skin, Lack of skin elasticity, Edema of the dorsum of hands, Edema...	ORPHA:281127
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Keratoconus, Alopecia, Palmoplantar keratoderma, Erythroderma, Conjunctivitis, Sparse hair, Fragi...	OMIM:242150
Igg4-Related Dacryoadenitis And Sialadenitis	Xerostomia, Increased circulating IgA level, Abnormality of the orbital region, Tubulointerstitia...	ORPHA:79078
Severe Combined Immunodeficiency, X-Linked	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgE, Reduc...	OMIM:300400
Tumoral Calcinosis, Normophosphatemic, Familial	Gingivitis, Conjunctivitis	OMIM:610455
Schopf-Schulz-Passarge Syndrome	Palmoplantar keratoderma, Small nail, Poroma, Sparse body hair, Apocrine hidrocystoma, Dry skin, ...	OMIM:224750
Immunodeficiency 105	Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina...	OMIM:619924
Ectodermal Dysplasia-Syndactyly Syndrome 1	Alopecia, Coarse hair, Conical tooth, Small nail, Widely spaced teeth, Hypoplastic toenails, Spar...	OMIM:613573
Immunodeficiency 48	Pneumonia, Eczematoid dermatitis, Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, ...	OMIM:269840
Muckle-Wells Syndrome	Recurrent aphthous stomatitis, Episcleritis, Skin rash, Splenomegaly, Abnormal palate morphology,...	ORPHA:575
Acrokeratosis Verruciformis Of Hopf	Hypergranulosis, Skin-colored papule, Leukonychia, Nail dystrophy, Anonychia, Punctate palmoplant...	ORPHA:79151
Alopecia Areata 2	Alopecia universalis, Patchy alopecia, Alopecia of scalp, Alopecia totalis	OMIM:610753
Bullous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis, Pruritus, Erythroderma, Urticaria	ORPHA:280785
Acute Radiation Syndrome	Cataract, Inflammatory abnormality of the skin, Skin ulcer, Lymphopenia, Interstitial pneumonitis...	ORPHA:454831
Immunodeficiency 114, Folate-Responsive	Atopic dermatitis, Decreased circulating IgG level, Carious teeth, Skin ulcer, Increased circulat...	OMIM:620603
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Palmoplantar keratoderma, Dry skin, Alopecia of scalp, Nail dystrophy, Hypomelanotic ma...	OMIM:618373
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Atopic dermatitis, Recurrent pneumonia, Decreased circulating IgG level, Chronic mucocutaneous ca...	OMIM:619752
Generalized Eruptive Keratoacanthoma	Abnormal cornea morphology, Keratoconjunctivitis sicca, Ectropion, Conjunctivitis, Pruritus	ORPHA:411777
Alopecia Areata 1	Alopecia universalis, Alopecia totalis, Patchy alopecia, Trachyonychia, Nail pits	OMIM:104000
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema	ORPHA:86923
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Facial edema, Erythema, Angioedema, Tongue edema, Laryngeal edema, Palpebral edema, Pharyngeal edema	ORPHA:100057
Cutaneous Photosensitivity And Colitis, Lethal	Colitis, Early cutaneous photosensitivity, Erythema	OMIM:219095
Limb-Mammary Syndrome	Bifid uvula, Alopecia, Sparse eyebrow, Absent nipple, Cleft lip, Lacrimal duct atresia, Breast ap...	ORPHA:69085
Schöpf-Schulz-Passarge Syndrome	Alopecia, Palmoplantar keratoderma, Facial telangiectasia, Premature loss of primary teeth, Hypod...	ORPHA:50944
Dermatoleukodystrophy	Thickened skin, Hyperkeratosis	ORPHA:1659
Combined Immunodeficiency Due To Dock8 Deficiency	Pneumonia, Atopic dermatitis, Skin ulcer, Increased circulating IgE level, Recurrent sinusitis, R...	ORPHA:217390
Ichthyosis Vulgaris	Ichthyosis, Dry skin, Eczematoid dermatitis, Absent keratohyalin granules	OMIM:146700
Mycosis Fungoides	Pruritus, Psoriasiform dermatitis, Eczematoid dermatitis, Erythema	OMIM:254400
Jessner Lymphocytic Infiltration Of The Skin	Erythema, Pruritus, Cutaneous photosensitivity	ORPHA:33314
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Tooth agenesis, Palmoplantar scaling skin, Na...	OMIM:605676
Macrophage Activation Syndrome	Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration...	ORPHA:158061
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Abnormality of the dentition, Eczematoid dermatitis, Skin ulcer, Generalized abnormality of skin,...	ORPHA:2314
Isolated Agammaglobulinemia	Pneumonia, Skin ulcer, Recurrent respiratory infections, Abnormal lymphocyte morphology, Otitis m...	ORPHA:229717
Trichodysplasia-Xeroderma Syndrome	Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Dry skin, Trichody...	ORPHA:3361
Xeroderma Pigmentosum	Erythema, Alopecia, Abnormality of the dentition, Keratitis, Cataract, Ankyloblepharon, Pterygium...	ORPHA:910
Parana Hard Skin Syndrome	Generalized hirsutism, Thickened skin, Hyperkeratosis	ORPHA:2812
Odontoonychodermal Dysplasia	Erythema, Dry hair, Sparse body hair, Dry skin, Follicular hyperkeratosis, Thin nail, Sparse eyeb...	OMIM:257980
Ichthyosis Hystrix, Lambert Type	Orthokeratotic hyperkeratosis, Hyperkeratosis	OMIM:146600
Immunodeficiency 109 With Lymphoproliferation	Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho...	OMIM:620282
Keratosis Pilaris Atrophicans	Absent eyelashes, Erythema, Sparse eyebrow	OMIM:604093
Wiskott-Aldrich Syndrome	Gingival bleeding, Inflammation of the large intestine, Abnormal eosinophil morphology, Acute leu...	ORPHA:906
Benign Cephalic Histiocytosis	Inflammatory abnormality of the skin, Skin rash	ORPHA:157997
Leishmaniasis	Abnormal oral mucosa morphology, Skin ulcer, Pancytopenia, Leukopenia, Pallor, Abnormal macrophag...	ORPHA:507
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Eczematoid dermatitis, Increased circulating IgE level, Reduced delayed hypersensitivity, Reduced...	OMIM:617241
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eczematoid dermatitis, Hepatitis, Increased circulating IgE level, Decreased FOXP3-expressing T c...	OMIM:304790
Palmoplantar Carcinoma, Multiple Self-Healing	Palmoplantar keratoderma, Nail dystrophy, Chronic rhinitis, Parakeratosis, Follicular hyperkerato...	OMIM:615225
Porokeratosis 7, Multiple Types	Parakeratosis, Porokeratosis	OMIM:614714
Porokeratosis 1, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175800
Familial Cold Autoinflammatory Syndrome 3	Allergic rhinitis, Erythema, Dermatographic urticaria, Cold urticaria, Angioedema, Recurrent otit...	OMIM:614468
Activated Pi3K-Delta Syndrome	Pneumonia, Recurrent tonsillitis, Recurrent otitis media, Decreased circulating antibody level, S...	ORPHA:397596
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Xerostomia, Dry skin, Ichthyosis, Parakeratosis, Acanthosis nigricans, Epidermal acanthosis, Hype...	OMIM:618527
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Alopecia, Recurrent pneumonia, Decreased circulating antibody level, Recurren...	OMIM:616576
Rothmund-Thomson Syndrome, Type 1	Recurrent otitis media, Nail dystrophy, Absent eyelashes, Absent eyebrow, Hyperkeratosis, Thin na...	OMIM:618625
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Pneumonia, Abnormal T cell count, Panhypogammaglobulinemia, Decreased response to growth hormone ...	OMIM:307200
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Onychogryposis of fingernail, Alopecia, Ridged fingernail, Palmoplantar keratoderma, Fingernail d...	ORPHA:2251
Cole Disease	Hyperkeratotic papule, Palmoplantar keratoderma, Orthokeratosis, Hypergranulosis, Abnormal hair m...	OMIM:615522
Immunodeficiency 103, Susceptibility To Fungal Infections	Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of...	OMIM:212050
Thymic Carcinoma	Neoplasm of the thymus, Hyperhidrosis, Palpebral edema, Mediastinal lymphadenopathy, Edema	ORPHA:99868
Mastocytosis, Cutaneous	Erythema, Telangiectasia macularis eruptiva perstans, Cutaneous mastocytosis, Edema, Urticaria	OMIM:154800
Superficial Epidermolytic Ichthyosis	Erythema, Palmoplantar keratoderma, Ichthyosis, Acantholysis, Edema, Thin skin	ORPHA:455
Palmoplantar Keratoderma-Deafness Syndrome	Palmoplantar keratoderma, Hyperkeratosis	ORPHA:2202
Nicolaides-Baraitser Syndrome	High, narrow palate, Highly arched eyebrow, Alopecia, Short palpebral fissure, Eczematoid dermati...	ORPHA:3051
Iga Pemphigus	Annular cutaneous lesion, Skin erosion, Cutaneous abscess, Neutrophilic infiltration of the skin,...	ORPHA:555905
Sting-Associated Vasculopathy, Infantile-Onset	Erythema, Pustular rash, Cutis marmorata, Malar rash, Nail dystrophy, Skin rash, Pustule, Myositi...	OMIM:615934
Immunodeficiency 27A	Pneumonia, Enlarged mesenteric lymph node, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increa...	OMIM:209950
Immunodeficiency, Common Variable, 11	Decreased circulating IgG level, Inflammation of the large intestine, Increased circulating IgE l...	OMIM:615767
Muckle-Wells Syndrome	Recurrent aphthous stomatitis, Leukocytosis, Conjunctival hyperemia, Conjunctivitis, Maculopapula...	OMIM:191900
Autosomal Erythropoietic Protoporphyria	Erythema, Eczematoid dermatitis, Pruritus, Cutaneous photosensitivity, Edema	ORPHA:79278
Keratoendotheliitis Fugax Hereditaria	Conjunctival hyperemia, Epiphora, Opacification of the corneal stroma, Keratitis	OMIM:148200
Immunodeficiency 102	Decreased proportion of CD4-positive helper T cells, Hepatomegaly, Recurrent lower respiratory tr...	OMIM:301082
Epidermolytic Palmoplantar Keratoderma	Hypergranulosis, Abnormal fingernail morphology, Diffuse palmoplantar hyperkeratosis, Palmoplanta...	ORPHA:2199
Monilethrix	Abnormality of the dentition, Cataract, Fine hair, Abnormal eyebrow morphology, Patchy alopecia, ...	ORPHA:573
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Rectal abscess, Panhypogammaglobulinemia, Recurrent otitis media, Recurrent ...	OMIM:601495
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Abnormal B cell morphology, Epicanthus, Agammaglobulinemia, Decreased circulating antibody level	OMIM:616911
Acrogeria	Skin ulcer, Fine hair, Excessive wrinkled skin, Aplasia/Hypoplasia of the skin, Thin skin	ORPHA:2500
Chronic Actinic Dermatitis	Allergic rhinitis, Eczematoid dermatitis, Erythroderma, Late onset atopic dermatitis, Pruritus, C...	ORPHA:330064
Keratoderma Hereditarium Mutilans	Self-injurious behavior, Alopecia, Honeycomb palmoplantar hyperkeratosis, Ichthyosis, Abnormal to...	ORPHA:494
Lupus Erythematosus Tumidus	Deep dermal perivascular inflammatory infiltrate, Cutaneous photosensitivity	ORPHA:90283
Lacrimal Duct Defect	Epiphora, Lacrimal duct atresia, Dacryocystocele, Sinusitis, Periorbital edema, Conjunctivitis, D...	OMIM:149700
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Inflammation of the large intestine, Recurrent pneumonia, Cervica...	OMIM:617718
Immunodeficiency With Hyper-Igm, Type 5	Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb...	OMIM:608106
Ascher Syndrome	Upper eyelid edema, Abnormal upper lip morphology, Ptosis, Hypothyroidism, Abnormal eyelid morpho...	ORPHA:1253
Kikuchi-Fujimoto Disease	Erythema, Abnormal lymph node morphology, Oral ulcer, Pustule, Neutropenia, Hepatomegaly, Malar r...	ORPHA:50918
Papa Syndrome	Skin ulcer, Crohn's disease, Increased inflammatory response, Pustule, Myositis, Increased circul...	ORPHA:69126
Prolidase Deficiency	Recurrent pneumonia, Eczematoid dermatitis, Skin ulcer, Splenomegaly, Petechiae, Increased circul...	OMIM:170100
Leukocyte Adhesion Deficiency Type Ii	Recurrent pneumonia, Keratitis, Recurrent otitis media, Microcytic anemia, Long eyelashes, Gingiv...	ORPHA:99843
Chronic Mucocutaneous Candidiasis	Erythema, Hepatitis, Skin ulcer, Abnormal lip morphology, Abnormal fingernail morphology, Abnorma...	ORPHA:1334
Autoinflammatory Disease, Systemic, With Vasculitis	Erythema, Cholestasis, Hepatosplenomegaly, Abnormal circulating IgG level, Oral ulcer, Hepatomega...	OMIM:620376
Immunodeficiency 50	Eczematoid dermatitis, Lymphopenia, Neutropenia, Recurrent respiratory infections, Decreased circ...	OMIM:300988
Dermatitis Herpetiformis	Dental enamel pits, Erythema, Eczematoid dermatitis, Delayed eruption of teeth, Erosion of oral m...	ORPHA:1656
Immunodeficiency 53	Recurrent pneumonia, Recurrent upper respiratory tract infections, Recurrent otitis media, Skin r...	OMIM:617585
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Increased circulating IgE level, Atopic dermatitis, Eosinophilic infiltration of the esophagus, R...	OMIM:620532
Vibratory Urticaria	Facial erythema, Dermatographic urticaria, Flushing, Urticaria	OMIM:125630
Protoporphyria, Erythropoietic, 1	Erythema, Pruritus, Eczematoid dermatitis, Edema	OMIM:177000
Behcet Syndrome	Erythema, Oral ulcer, Patchy alopecia, Iridocyclitis, Erythema nodosum, Arthritis, Epididymitis, ...	OMIM:109650
Harlequin Ichthyosis	Cataract, Erythroderma, Ectropion, Eclabion, Hyperkeratosis, Dehydration	ORPHA:457
Bullous Pemphigoid	Erythema, Eczematoid dermatitis, Psoriasiform dermatitis, Oral mucosal blisters, Pruritus, Urticaria	ORPHA:703
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level, Abnormality of the liver, Absence of lymph node germinal center	OMIM:235550
Incontinentia Pigmenti	Erythema, Supernumerary nipple, Sparse hair, Hyperkeratosis, Onychogryposis, Cataract, Alopecia, ...	OMIM:308300
Juvenile Hyaline Fibromatosis	Skin ulcer, Abnormal hair morphology, Aplasia/Hypoplasia of the skin, Subcutaneous nodule, Papule	ORPHA:2028
Lymphoproliferative Syndrome 2	Recurrent pneumonia, Decreased lymphocyte proliferation in response to mitogen, Aplastic anemia, ...	OMIM:615122
Eec Syndrome	Carious teeth, Xerostomia, Dry skin, Inflammatory abnormality of the eye, Hyperkeratosis, Corneal...	ORPHA:1896
Peeling Skin Syndrome 2	Erythema, Abnormality of the nail, Scaling skin	OMIM:609796
Schnitzler Syndrome	Leukocytosis, Splenomegaly, Skin rash, Hepatomegaly, Lymphadenopathy, Arthritis, Anemia, Pruritus...	ORPHA:37748
Dyskeratosis Congenita	Carious teeth, Periodontitis, Cirrhosis, Hepatomegaly, Cataract, Abnormal eyebrow morphology, Tau...	ORPHA:1775
Lymphoproliferative Syndrome, X-Linked, 2	Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hepatitis, Hemophagocytosis, ...	OMIM:300635
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level, Eczematoid dermatitis, Thyroiditis	OMIM:618985
Amyloidosis, Primary Localized Cutaneous, 1	Dry skin, Pruritus, Scaling skin	OMIM:105250
Dermatopathia Pigmentosa Reticularis	Reticulate pigmentation of oral mucosa, Alopecia of scalp, Nail dystrophy, Palmoplantar hyperkera...	OMIM:125595
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Erythema, Dry skin, Ichthyosis, Scaling skin, Hyperkeratosis, Congenital nonbullous ichthyosiform...	OMIM:614457
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Erythema, Uveitis, Erysipelas, Fasciitis, Leukocytosis, Skin rash, Splenomegaly, Orchitis, Myosit...	ORPHA:32960
Lacrimoauriculodentodigital Syndrome 2	Conical tooth, Carious teeth, Lacrimal duct aplasia, Alacrima, Lacrimal duct atresia, Absent lacr...	OMIM:620192
Ichthyosis, Congenital, Autosomal Recessive 2	Erythema, Alopecia, Palmoplantar keratoderma, Small nail, Abnormal hair morphology, Everted lower...	OMIM:242100
Hereditary Acrokeratotic Poikiloderma	Gingival bleeding, Erythema, Xerostomia, Open bite, Ankyloglossia, Narrow mouth, Pustule, Keratoc...	ORPHA:2907
Familial Keratoacanthoma	Skin ulcer, Adenoma sebaceum, Subcutaneous nodule, Papule, Hyperkeratosis	ORPHA:493
Alopecia-Intellectual Disability Syndrome 4	Alopecia, Erythroderma, Ichthyosis, Agitation	OMIM:618840
Hypotrichosis And Recurrent Skin Vesicles	Sparse eyebrow, Sparse body hair, Leukonychia, Sparse eyelashes, Sparse axillary hair, Angular ch...	OMIM:613102
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Pneumonia, Abnormally low T cell receptor excision circle level, Recurrent upper respiratory trac...	OMIM:602450
Lymphoproliferative Syndrome, X-Linked, 1	Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Reduce...	OMIM:308240
Angioma Serpiginosum, X-Linked	Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair	OMIM:300652
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Trichiasis, Sparse eyebrow, Keratitis, Oral leukoplakia, Furrowed tongue, Corneal scarring, Nail ...	OMIM:148210
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Generalized hypotrichosis, Sparse eyebrow, Palmoplantar keratoderma, Absent hair, Trichorrhexis n...	ORPHA:1010
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Sydenham Chorea	Septic arthritis, Erythema, Endocarditis	ORPHA:306731
Heme Oxygenase 1 Deficiency	Nephritis, Diffuse alveolar hemorrhage, Cervical lymphadenopathy, Chemosis, Hepatomegaly, Coombs-...	OMIM:614034
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Recurrent upper respiratory tract infections, Hemophagocytosis, Abnormal pulmonary interstitial m...	OMIM:613101
Progressive Symmetric Erythrokeratodermia	Erythema, Palmoplantar keratoderma	ORPHA:316
Dowling-Degos Disease	Palmar pits, Hyperkeratotic papule, Erythematous papule, Acne inversa, Epidermoid cyst, Hypermela...	ORPHA:79145
Cortisone Reductase Deficiency 1	Alopecia, Acne, Hirsutism	OMIM:604931
Macs Syndrome	Eclabion, Sparse eyebrow, Long philtrum, Downslanted palpebral fissures, Recurrent aphthous stoma...	OMIM:613075
Aplasia Cutis Congenita	Erythema, Skin ulcer, Aplasia cutis congenita, Aplasia cutis congenita over the scalp vertex, Con...	ORPHA:1114
Pili Torti	Abnormality of the dentition, Alopecia, Abnormal dental enamel morphology, Abnormal eyebrow morph...	ORPHA:2889
Pyoderma Gangrenosum	Inflammation of the large intestine, Rheumatoid arthritis, Skin ulcer, Atrophic scars, Increased ...	ORPHA:48104
Immunodeficiency 95	Decreased circulating IgG3 level, Recurrent viral pneumonia, Lymphopenia, Recurrent viral upper r...	OMIM:619773
Hepatoerythropoietic Porphyria	Seborrhoeic blepharitis, Facial hypertrichosis, Erythrodontia, Nonimmune hydrops fetalis, Loss of...	ORPHA:95159
Combined Immunodeficiency, X-Linked	Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-po...	OMIM:312863
Cryoglobulinemic Vasculitis	Skin ulcer, Abnormality of the liver, Splenomegaly, Petechiae, Cryoglobulinemia, Purpura, Keratoc...	ORPHA:91138
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Macroglossia, Short palpebral fissure, Dental crowding, Long philtrum, Hepatosplenomegaly, Teleca...	ORPHA:397709
Darier Disease	Thickened skin, Plantar pits, Palmoplantar keratoderma, Hypermelanotic macule, Abnormal hair morp...	ORPHA:218
Cockayne Syndrome Type 1	Cataract, Abnormality of the dentition, Widely spaced primary teeth, Hypoplasia of the primary te...	ORPHA:90321
H Syndrome	Histiocytosis, Cleft upper lip, Microcytic anemia, Abnormal eyebrow morphology, Upper eyelid edem...	ORPHA:168569
Immunodeficiency 97 With Autoinflammation	Hemophagocytosis, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Decreased proportion o...	OMIM:619802
Acrokeratoelastoidosis Of Costa	Hyperkeratotic papule, Orthokeratosis, Hypergranulosis, Piezogenic pedal papules, Palmoplantar hy...	ORPHA:38
Subacute Cutaneous Lupus Erythematosus	Discoid lupus rash, Dermal atrophy, Malar rash, Psoriasiform lesion, Cheilitis, Hyperkeratosis, A...	ORPHA:163525
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	OMIM:144150
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Erythema, Abnormal hair morphology, Scleritis, Abnormal nasolacrimal system morphology, Absent ey...	ORPHA:2273
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Cataract, Alopecia, Sparse eyebrow, Erysipelas, Sparse eyelashes, Nail dysplasia	OMIM:615704
Aicardi-Goutieres Syndrome 5	Dry skin, Increased circulating interferon-gamma concentration, Chilblains, Scaling skin	OMIM:612952
Angioma Serpiginosum, Autosomal Dominant	Hyperkeratosis	OMIM:106050
Papillomatosis, Confluent And Reticulated	Hyperkeratosis	OMIM:167900
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Abnormality of the dentition, Eczematoid dermatitis, Sparse body hair, Abnormal fingernail morpho...	ORPHA:1810
Pgm3-Cdg	Allergic rhinitis, Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Esophagi...	ORPHA:443811
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Decreased circulating IgG level, Recurrent upper respiratory tract infections...	OMIM:616100
Coffin-Siris Syndrome 8	Eczematoid dermatitis, Hypertrichosis, Thick lower lip vermilion, Long eyelashes, Thick eyebrow, ...	OMIM:618362
X-Linked Dominant Chondrodysplasia Punctata	Sparse eyebrow, Coarse hair, Downslanted palpebral fissures, Erythematous plaque, Ichthyosis, Spa...	ORPHA:35173
Autoimmune Lymphoproliferative Syndrome, Type Iia	Follicular hyperplasia, Increased circulating IgA level, Hepatomegaly, Autoimmune thrombocytopeni...	OMIM:603909
Dyskeratosis Congenita, Autosomal Dominant 1	Bone marrow hypocellularity, Carious teeth, Aplastic anemia, Increased mean corpuscular volume, O...	OMIM:127550
Angioma Serpiginosum	Retinal vascular malformation, Erythema, Vascular skin abnormality	ORPHA:95429
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Inflammation of the large intestine, Psoriasiform dermatitis, Hepatomegaly, Recurrent lower respi...	ORPHA:436159
Ectodermal Dysplasia-Blindness Syndrome	Abnormality of the dentition, Cataract, Microcornea, Skin ulcer, Fine hair, Abnormal fingernail m...	ORPHA:1806
Lymphedema-Distichiasis Syndrome	Cataract, Predominantly lower limb lymphedema, Webbed neck, Cleft upper lip, Ectropion, Corneal e...	ORPHA:33001
Interstitial Lung Disease 1	Usual interstitial pneumonia, Intralobular septal thickening, Interlobular septal thickening, Ele...	OMIM:619611
Sweet Syndrome	Inflammation of the large intestine, Abnormal circulating interleukin concentration, Increased ci...	ORPHA:3243
Leopard Syndrome 3	Webbed neck, Palpebral thickening, Downslanted palpebral fissures, Multiple lentigines, Dry skin,...	OMIM:613707
Interstitial Granulomatous Dermatitis With Arthritis	Inflammatory abnormality of the skin, Pruritus, Rheumatoid arthritis, Erythema	ORPHA:79099
Congenital Lethal Erythroderma	Dry skin, Congenital exfoliative erythroderma, Urticaria	ORPHA:1954
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Allergic rhinitis, Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous absce...	OMIM:243700
Immunodeficiency With Hyper-Igm, Type 1	Enteroviral encephalitis, Oral ulcer, Increased circulating IgA level, Cirrhosis, Neutropenia, He...	OMIM:308230
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Atypical scarring of skin, Palmoplantar keratoderma, Alopecia totalis, Nail dystrophy, Lack of sk...	ORPHA:1366
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Recurrent pneumonia, Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegaly, Abscess...	OMIM:150550
Neonatal Lupus Erythematosus	Malar rash, Erythematous plaque, Skin rash, Parakeratosis, Maculopapular exanthema, Hyperkeratosis	ORPHA:398124
Leukocyte Adhesion Deficiency	Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome...	ORPHA:2968
Mixed Connective Tissue Disease	Mediastinal lymphadenopathy, Xerostomia, Leukopenia, Pleuritis, Skin rash, Splenomegaly, Joint sw...	ORPHA:809
Leukonychia Totalis	Abnormal fingernail morphology, Abnormal eyelash morphology, Blepharitis, Abnormal toenail morpho...	ORPHA:2387
Subcorneal Pustular Dermatosis	Erythema, Rheumatoid arthritis, Increased circulating antibody level, Pustule, Pruritus	ORPHA:48377
Erythrokeratodermia Variabilis Et Progressiva 3	Erythema, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Leukonychia, Epidermal acant...	OMIM:617525
Nasolacrimal Duct Cyst	Red eye, Periorbital edema, Epiphora, Chronic irritative conjunctivitis, Dacryocystocele, Corneal...	ORPHA:141083
Neutropenia, Chronic Familial	Gingivitis, Increased circulating antibody level, Periodontitis, Premature loss of teeth	OMIM:162700
Immunodeficiency 18	Reduced natural killer cell count, Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Abno...	OMIM:615615
Tylosis With Esophageal Cancer	Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis	OMIM:148500
13Q12.3 Microdeletion Syndrome	Atopic dermatitis, Upper eyelid edema, Oligodontia, Thin upper lip vermilion, Recurrent respirato...	ORPHA:412035
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen...	OMIM:605258
Adult Syndrome	Alopecia, Toenail dysplasia, Absent nipple, Skin ulcer, Fine hair, Breast hypoplasia, Fingernail ...	ORPHA:978
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Erythema, Alopecia, Thickened skin, Palmoplantar keratoderma, Skin ulcer, Abnormal fingernail mor...	ORPHA:659
Monilethrix	Alopecia, Nail dystrophy, Nail dysplasia, Brittle hair, Abnormality of hair texture, Sparse hair,...	OMIM:158000
Ectodermal Dysplasia 7, Hair/Nail Type	Abnormal sweat gland morphology, Alopecia, Sparse eyebrow, Hair-nail ectodermal dysplasia, Dystro...	OMIM:614929
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Yellow nails, Palmoplantar keratoderma, Hypergranulosis, Nail dystrophy, Onycholysis, Orthokerato...	OMIM:148700
Porphyria Cutanea Tarda, Type I	Fragile skin, Eczematoid dermatitis, Hypertrichosis	OMIM:176090
Maculopapular Cutaneous Mastocytosis	Erythema, Dermatographic urticaria, Generalized abnormality of skin, Darier's sign, Pruritus, Flu...	ORPHA:79457
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Abnormal circulating IgM level, Neutrophilic infiltration...	OMIM:618048
Mucoepithelial Dysplasia, Hereditary	Pneumonia, Cataract, Alopecia, Coarse hair, Recurrent pneumonia, Chronic mucocutaneous candidiasi...	OMIM:158310
Alopecia Universalis	Alopecia universalis, Atopic dermatitis, Psoriasiform dermatitis, Absent eyelashes, Patchy alopec...	ORPHA:701
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Acne inversa, Chronic furunculosis, Perifolliculitis, Follicular hyperkeratosis, Recurrent cutane...	OMIM:613736
Ichthyosis, Congenital, Autosomal Recessive 8	Erythema, Orthokeratosis, Hypergranulosis, Ichthyosis, Epidermal acanthosis, Hyperkeratosis	OMIM:613943
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Cataract, Alopecia, Corneal scarring, Narrow mouth, Nail dystrophy, Oral mucosal blisters, Nail d...	OMIM:226600
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Carious teeth, Xerostomia, Sparse eyelashes, Absence of Stensen duct, Ectodermal dysplasia, Bleph...	OMIM:129900
Yao Syndrome	Uveitis, Inflammatory abnormality of the skin, Xerostomia, Skin rash, Oral ulcer, Keratoconjuncti...	OMIM:617321
Mannose-Binding Lectin Deficiency	Recurrent skin infections	OMIM:614372
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Follicular hyperplasia, Decreased proportion of class-switched memory B cells...	OMIM:619126
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Localized skin lesion, Atypical scarring of skin, Keloids, Erythematous papule, Small nail, Hyper...	ORPHA:79410
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Subungual hyperkeratosis, Orthokeratosis, Sparse lateral eyebrow, Eczematoid dermatitis, Acne inv...	OMIM:617337
Immunodeficiency 10	Decreased circulating IgG level, Recurrent pneumonia, Hypoplasia of the iris, Recurrent otitis me...	OMIM:612783
Systemic Lupus Erythematosus 17	Alopecia, Myelitis, Malar rash, Oral ulcer, Optic neuritis, Decreased circulating complement C4 c...	OMIM:301080
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Carious teeth, Xerostomia, Sparse eyelashes, Absence of Stensen duct, Ectodermal dysplasia, Bleph...	OMIM:604292
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Aplasia/Hypoplasia of the skin, Purpura, Skin ulcer, Thin skin	ORPHA:743
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Alopecia, Toenail dysplasia, Ectopia lentis, Delayed eruption of teeth, Tooth agenesis, Abnormal ...	ORPHA:2325
Diffuse Cutaneous Mastocytosis	Abnormality of the spleen, Abnormality of the liver, Lymphocytosis, Erythroderma, Lymphadenopathy...	ORPHA:79456
Seborrhea-Like Dermatitis With Psoriasiform Elements	Epidermal acanthosis, Seborrheic dermatitis, Hyperkeratosis	OMIM:610227
Alopecia-Intellectual Disability Syndrome 1	Alopecia universalis, Alopecia	OMIM:203650
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia	Long eyelashes, Thick eyebrow, Upper eyelid edema, Hirsutism, Low anterior hairline, Sparse hair	OMIM:616819
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Partial absence of specific antibody respon...	OMIM:619824
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Lymphadenitis, Decreased lymphocyte proliferation in response to anti-CD3, Recurrent otitis media...	OMIM:618986
Acute Lung Injury	Pneumonia, Diffuse alveolar hemorrhage, Abnormality of tumor necrosis factor secretion, Abnormal ...	ORPHA:178320
Congenital Disorder Of Glycosylation, Type If	Dry skin, Erythroderma, Hyperkeratosis, Scaling skin	OMIM:609180
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome	Highly arched eyebrow, Long eyelashes, Thick eyebrow, Hirsutism, Low anterior hairline, Palpebral...	ORPHA:466688
Down Syndrome	Keratoconus, Narrow mouth, Open mouth, Acute megakaryocytic leukemia, Protruding tongue, Epicanth...	ORPHA:870
Rin2 Syndrome	Abnormal lip morphology, Downslanted palpebral fissures, Long philtrum, Upper eyelid edema, Gingi...	ORPHA:217335
Neuropathy, Hereditary Sensory And Autonomic, Type Viii	Decreased lacrimation, Corneal scarring, Hypohidrosis, Recurrent skin infections, Corneal ulceration	OMIM:616488
Dyskeratosis Congenita, X-Linked	Cataract, Bone marrow hypocellularity, Carious teeth, Epiphora, Oral leukoplakia, Pterygium, Panc...	OMIM:305000
Rapp-Hodgkin Syndrome	Carious teeth, Small nail, Velopharyngeal insufficiency, Supernumerary nipple, Recurrent otitis m...	OMIM:129400
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Downslanted palpebral fissures, Thin eyebrow, Upper eyelid edema, Bruxism, Stereotypical hand wri...	OMIM:617804
Proteus Syndrome	Nevus, Downslanted palpebral fissures, Epidermal nevus, Ptosis, Hyperkeratosis, Epidermal acantho...	OMIM:176920
Holocarboxylase Synthetase Deficiency	Perioral eczema, Alopecia, Eczematoid dermatitis, Keratoconjunctivitis	ORPHA:79242
Mal De Meleda	Congenital symmetrical palmoplantar keratosis, Perioral erythema, Fragile nails	OMIM:248300
Recessive X-Linked Ichthyosis	Dry skin, Attention deficit hyperactivity disorder, Hyperkeratosis, Ichthyosis	ORPHA:461
17Q23.1Q23.2 Microdeletion Syndrome	Highly arched eyebrow, Blepharitis, Widely spaced teeth, Long eyelashes, Narrow mouth, Epicanthus...	ORPHA:261279
Blepharonasofacial Malformation Syndrome	Sparse lateral eyebrow, Long philtrum, Tooth agenesis, Telecanthus, Redundant skin, Lacrimation a...	ORPHA:1252
Hypotrichosis 5	Abnormal sweat gland morphology, Alopecia, Abnormality of the dentition, Thin eyebrow, Sparse eye...	OMIM:612841
Flynn-Aird Syndrome	Dermal atrophy, Alopecia, Alopecia of scalp, Hyperkeratosis	OMIM:136300
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Erythema, Eczematoid dermatitis, Redundant skin, Seborrheic dermatitis, Palmoplantar hyperkeratos...	OMIM:259100
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Fine hair, Abnormal fingernail morphology, Abnormal hair morphology, Dry skin, Prematur...	ORPHA:248
Moynahan Syndrome	Alopecia, Sparse hair, Hyperkeratosis	ORPHA:2574
Reynolds Syndrome	Xerostomia, Skin ulcer, Generalized abnormality of skin, Ascites, Skin rash, Infectious encephali...	ORPHA:779
Thumb Deformity And Alopecia	Solitary median maxillary central incisor, Alopecia	OMIM:188150
Hereditary Sensory And Autonomic Neuropathy Type 1	Osteomyelitis, Hyperkeratosis, Skin ulcer, Penetrating foot ulcers	ORPHA:36386
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibod...	OMIM:247800
Distal Xq28 Microduplication Syndrome	Predominantly lower limb lymphedema, Recurrent upper respiratory tract infections, Dental crowdin...	ORPHA:293939
X-Linked Intellectual Disability, Shashi Type	Palpebral edema, Prominent supraorbital ridges, Blepharophimosis, Everted lower lip vermilion	ORPHA:85286
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina...	OMIM:606843
Fixed Drug Eruption	Erythema, Generalized abnormality of skin, Oral ulcer, Crusting erythematous dermatitis, Stomatitis	ORPHA:293812
Focal Facial Dermal Dysplasia Type Iii	Highly arched eyebrow, Sparse lateral eyebrow, Downturned corners of mouth, Downslanted palpebral...	ORPHA:1807
Immunodeficiency 23	Allergic rhinitis, Erythema, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Molluscum ...	OMIM:615816
Proteasome-Associated Autoinflammatory Syndrome 1	Erythema, Increased circulating interleukin 8 concentration, Recurrent otitis media, Microcytic a...	OMIM:256040
Recon Progeroid Syndrome	Red eye, Dental crowding, Progeroid facial appearance, Dry skin, Hyperconvex thumb nails, Delayed...	OMIM:620370
Roifman Syndrome	Recurrent pneumonia, Prominent eyelashes, Eczematoid dermatitis, Downturned corners of mouth, Lon...	ORPHA:353298
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati...	OMIM:619632
Erythema Elevatum Diutinum	Skin vesicle, Increased circulating antibody level, Skin rash, Vasculitis in the skin	ORPHA:90000
Surfactant Metabolism Dysfunction, Pulmonary, 2	Recurrent pneumonia, Intralobular septal thickening, Spontaneous pneumothorax, Intraalveolar phos...	OMIM:610913
Peroxisome Biogenesis Disorder 2A (Zellweger)	Cataract, Opacification of the corneal stroma, Upslanted palpebral fissure, Epicanthus, Hypoplasi...	OMIM:214110
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Epiphora, Pancytopenia, Increased circulating antibody level...	OMIM:181000
Aicardi-Goutieres Syndrome 6	Splenomegaly, Chilblains, Increased circulating Interferon-alpha concentration, Thrombocytopenia,...	OMIM:615010
Brooke-Spiegler Syndrome	Skin ulcer, Skin appendage neoplasm, Skin-colored papule, Nodular changes affecting the eyelids, ...	ORPHA:79493
L-Ferritin Deficiency	Alopecia, Restless legs	OMIM:615604
Frontonasal Dysplasia 2	Short palpebral fissure, Sparse eyebrow, Conical tooth, Widely spaced teeth, Telecanthus, Oligohy...	OMIM:613451
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Downslanted palpebral fissures, Atrophic scars, Telecanthus, Blepharochalasis, Redundant skin, Hi...	OMIM:225410

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