Gene: Itgb2 MGI:96611

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

integrin beta 2

Synonyms:

Cd18, Mac-1 beta, 2E6

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 Itgb2 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 Itgb2 (1 diseases)
Human diseases predicted to be associated with Itgb2 (2112 diseases)

The table below shows human diseases associated to Itgb2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Leukocyte Adhesion Deficiency, Type I		Leukocytosis, Osteomyelitis, Periodontitis, Rectal abscess, Skin ulcer	OMIM:116920

The table below shows human diseases predicted to be associated to Itgb2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Quinquaud Folliculitis Decalvans	Abnormal hair morphology, Pustule, Erythema, Scarring alopecia of scalp, Recurrent skin infection...	ORPHA:346
Erosive Pustular Dermatosis Of The Scalp	Abnormal hair morphology, Erythema, Pustule, Scarring alopecia of scalp	ORPHA:222
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Perifolliculitis, Alopecia of scalp, Alopecia	OMIM:260910
Erythema Nodosum, Familial	Erythema, Erythema nodosum	OMIM:132990
Erythrokeratodermia Variabilis Et Progressiva 6	Pruritus, Superficial dermal perivascular inflammatory infiltrate, Parakeratosis	OMIM:618531
Palmoplantar Keratoderma, Norrbotten Recessive Type	Recurrent cutaneous fungal infections, Palmoplantar keratoderma, Hyperkeratosis	OMIM:244850
Peeling Skin Syndrome 6	Pruritus, Orthokeratosis, Parakeratosis	OMIM:618084
Ichthyosis, Lamellar, Autosomal Dominant	Pruritus, Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis	OMIM:146750
Cephalin Lipidosis	Abnormality of the spleen	OMIM:212800
Psoriasis 2	Hyperkeratosis, Psoriasiform dermatitis, Parakeratosis	OMIM:602723
Ichthyosis, Congenital, Autosomal Recessive 5	Erythroderma, Palmoplantar keratoderma, Parakeratosis, Congenital nonbullous ichthyosiform erythr...	OMIM:604777
Immunodeficiency 50	Decreased circulating antibody level, Neutropenia, Lymphopenia	OMIM:300988
Acne Inversa, Familial, 3	Perifolliculitis, Acne inversa, Chronic furunculosis, Recurrent cutaneous abscess formation	OMIM:613737
Ichthyosis, Congenital, Autosomal Recessive 10	Hypergranulosis, Palmoplantar keratoderma, Erythroderma, Congenital ichthyosiform erythroderma	OMIM:615024
Kerion Celsi	Inflammatory abnormality of the skin, Recurrent skin infections, Alopecia, Recurrent cutaneous ab...	ORPHA:499
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia	OMIM:615615
Immunodeficiency 24	Decreased specific pneumococcal antibody level, Defective T cell proliferation, Decreased circula...	OMIM:615897
Vohwinkel Syndrome, Variant Form	Hypergranulosis, Orthokeratosis, Hyperkeratosis, Parakeratosis	OMIM:604117
Graham Little-Piccardi-Lassueur Syndrome	Sparse axillary hair, Pruritus, Alopecia, Sparse pubic hair, Sparse scalp hair	ORPHA:505
Psoriasis 1, Susceptibility To	Psoriasiform dermatitis, Onycholysis, Onychomadesis, Arthritis, Nail pits	OMIM:177900
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Neutropenia, Lymphadenopathy, Recurrent infections, Decreased proportion of CD3-positive T cells,...	ORPHA:169154
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, ...	OMIM:619220
Mycosis Fungoides	Psoriasiform dermatitis, Eczema, Erythema, Pruritus	OMIM:254400
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Psoriasiform dermatitis, Erythroderma, Acantholysis, Palmoplantar keratoderma, Hypergranulosis, O...	OMIM:615508
Agammaglobulinemia 7, Autosomal Recessive	Agammaglobulinemia, Neutropenia	OMIM:615214
Keratosis, Focal Palmoplantar And Gingival	Circumungual hyperkeratosis, Focal friction-related palmoplantar hyperkeratosis, Gingival hyperke...	OMIM:148730
Wiskott-Aldrich Syndrome 2	Thrombocytopenia, Reduced natural killer cell activity, Defective T cell proliferation, Decreased...	OMIM:614493
Immunodeficiency 64	Abnormal CD4:CD8 ratio, Defective T cell proliferation, Mediastinal lymphadenopathy, Bronchiectas...	OMIM:618534
Neutropenia, Chronic Familial	Increased circulating antibody level, Neutropenia	OMIM:162700
Keratolytic Winter Erythema	Erythema, Pustule	ORPHA:50943
Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Decreased proportion of CD4-positive helper T cells, Decreased p...	OMIM:312863
Cutaneous Collagenous Vasculopathy	Diffuse telangiectasia, Petechiae, Vascular skin abnormality, Pruritus, Erythema, Prominent super...	ORPHA:280779
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased...	OMIM:616452
Immunodeficiency, Common Variable, 1	Recurrent bacterial infections, B lymphocytopenia, Hepatomegaly, Decreased proportion of class-sw...	OMIM:607594
Alopecia Areata 2	Alopecia universalis, Patchy alopecia, Alopecia totalis, Alopecia of scalp	OMIM:610753
Porokeratosis Of Mibelli	Pruritus, Porokeratosis, Hyperkeratosis	ORPHA:735
Erythrokeratodermia Variabilis Et Progressiva 1	Hypergranulosis, Patchy palmoplantar hyperkeratosis, Erythroderma, Generalized hyperkeratosis	OMIM:133200
Immunodeficiency 14A, Autosomal Dominant	Decreased specific pneumococcal antibody level, Increased proportion of transitional B cells, Dec...	OMIM:615513
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Decreased lymphocyte apoptosis, Recurrent infec...	OMIM:614470
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Decreased circulating IgG level, T lymphocytopenia	OMIM:242870
Psoriasis 15, Pustular, Susceptibility To	Psoriasiform dermatitis, Nail dystrophy	OMIM:616106
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Palmoplantar keratoderma, Parakeratosis, Hypergranulosis, Orthokeratosis	OMIM:173200
Hypotrichosis 6	Sparse eyelashes, Pruritus, Brittle hair, Erythema, Pili torti, Sparse and thin eyebrow, Sparse hair	OMIM:607903
Monocyte Chemotactic Disorder	Cutaneous anergy	OMIM:252250
Psoriasis 14, Pustular	Cholangitis, Leukocytosis, Psoriasiform dermatitis, Pustule, Oligoarthritis, Nail dystrophy, Eryt...	OMIM:614204
Ichthyosis, Congenital, Autosomal Recessive 6	Erythroderma, Palmoplantar keratoderma, Parakeratosis, Congenital nonbullous ichthyosiform erythr...	OMIM:612281
Histiocytosis, Familial Lipochrome	Increased circulating antibody level, Histiocytosis	OMIM:235900
Ichthyosis, Congenital, Autosomal Recessive 7	Hypergranulosis, Palmoplantar keratoderma, Erythroderma, Ichthyosis	OMIM:615022
Combined Cellular And Humoral Immune Defects With Granulomas	B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia	OMIM:233650
Ectodermal Dysplasia 6, Hair/Nail Type	Dystrophic toenail, Alopecia, Thin toenail, Hair-nail ectodermal dysplasia, Sparse hair	OMIM:614928
Carbimazole Sensitivity	Drug-induced agranulocytosis	OMIM:212060
Porokeratosis Plantaris Palmaris Et Disseminata	Hyperkeratotic papule, Pruritus, Palmoplantar hyperkeratosis, Porokeratosis	ORPHA:737
Vibratory Urticaria	Facial erythema, Urticaria, Flushing	OMIM:125630
X-Linked Intellectual Disability-Seizures-Psoriasis Syndrome	Psoriasiform dermatitis	ORPHA:3052
Mental Retardation And Psoriasis	Psoriasiform dermatitis	OMIM:309480
Bullous Pemphigoid	Psoriasiform dermatitis, Eczema, Erythema, Urticaria	ORPHA:703
Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality	Periodontitis, Congenital alopecia totalis, Alopecia universalis	OMIM:104130
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive	Increased circulating interleukin 6, Decreased proportion of class-switched memory B cells, Decre...	OMIM:618944
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Cutaneous anergy, Splenomegaly, Hypersplenism, Decreased helper T cell proportion, Pancytopenia	OMIM:183350
Immunodeficiency With Hyper-Igm, Type 3	Neutropenia, Decreased circulating IgA level, Impaired memory B cell generation, Decreased circul...	OMIM:606843
Pressure-Induced Localized Lipoatrophy	Inflammatory abnormality of the skin, Erythema, Reduced subcutaneous adipose tissue	ORPHA:90160
Hypotrichosis 4	Sparse eyelashes, Alopecia, Pili torti, Sparse and thin eyebrow, Sparse hair, Sparse body hair	OMIM:146550
Erythrokeratodermia Variabilis Et Progressiva 2	Erythema, Hypertrichosis	OMIM:617524
Porokeratosis 7, Multiple Types	Porokeratosis, Parakeratosis	OMIM:614714
Immunodeficiency 14B, Autosomal Recessive	Thrombocytosis, Leukocytosis, B lymphocytopenia, Inflammation of the large intestine, Monocytosis...	OMIM:619281
Ichthyosis, Congenital, Autosomal Recessive 8	Hypergranulosis, Orthokeratosis, Ichthyosis, Hyperkeratosis, Congenital ichthyosiform erythroderma	OMIM:613943
Immunodeficiency 72 With Autoinflammation	Increased B cell count, Increased proportion of memory T cells, Increased circulating IgG level, ...	OMIM:618982
Ichthyosis With Confetti	Erythroderma, Palmoplantar hyperkeratosis, Hyperkeratosis	OMIM:609165
Agammaglobulinemia 3, Autosomal Recessive	Agammaglobulinemia, Neutropenia	OMIM:613501
Ichthyosis, Congenital, Autosomal Recessive 13	Hypergranulosis, Palmoplantar hyperkeratosis, Hyperkeratosis	OMIM:617574
Palmoplantar Keratoderma, Punctate Type Ia	Hypergranulosis, Punctate palmoplantar hyperkeratosis, Orthokeratosis	OMIM:148600
Lymphoid System Deterioration, Progressive	Abnormal T cell morphology, Decreased circulating IgG level, Lymphopenia, Decreased circulating t...	OMIM:247630
Hemophagocytic Lymphohistiocytosis, Familial, 3	Reduced natural killer cell activity, Anemia, Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis	OMIM:608898
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma	Linear arrays of macular hyperkeratoses in flexural areas, Parakeratosis, Congenital nonbullous i...	OMIM:601952
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Neutropenia, Leukopenia, Anemia, Splenomegaly, Increased circulating antibody level, Extramedulla...	OMIM:615285
Ichthyosis Hystrix Of Curth-Macklin	Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Ichthyosis, Hyperkeratosis	ORPHA:79503
Hypotrichosis Simplex	Sparse eyelashes, Sparse and thin eyebrow, Alopecia, Sparse scalp hair, Sparse hair, Sparse body ...	ORPHA:55654
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, N...	OMIM:601859
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema	ORPHA:86923
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2	Palmoplantar keratoderma, Hyperkeratosis	OMIM:616400
Jessner Lymphocytic Infiltration Of The Skin	Pruritus, Erythema, Cutaneous photosensitivity	ORPHA:33314
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Palmoplantar keratoderma, Parakeratosis, Posterior blepharitis, Hyperke...	OMIM:300918
Pityriasis Rubra Pilaris	Eczema, Erythroderma, Pustule, Subungual hyperkeratosis, Pruritus, Thickened skin, Palmoplantar k...	ORPHA:2897
Tuftsin Deficiency	Abnormality of the spleen	OMIM:191150
Hypotrichosis 5	Sparse eyelashes, Thin eyebrow, Alopecia, Absent pubic hair, Absent axillary hair	OMIM:612841
Immunodeficiency, Common Variable, 3	Recurrent bacterial infections, Decreased proportion of class-switched memory B cells, Reduced is...	OMIM:613493
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Neutropenia, Infectious encephalitis, Lymphadenopathy, Reduced natural killer cell ...	OMIM:308240
Bleeding Disorder, Platelet-Type, 21	Psoriasiform dermatitis, Eczema, Alopecia	OMIM:617443
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	B lymphocytopenia, Lack of T cell function, Increased circulating IgE level, Lymphopenia, T lymph...	ORPHA:277
Dissecting Cellulitis Of The Scalp	Pruritus, Recurrent skin infections, Abnormal hair morphology	ORPHA:345
Classic Mycosis Fungoides	Hepatomegaly, Eczema, Lymphadenopathy, Pruritus, Alopecia, Abnormal lymphocyte morphology, Erythe...	ORPHA:2584
Palmoplantar Keratoderma, Punctate Type Iii	Acrokeratosis, Hyperkeratosis	OMIM:101850
Necrobiosis Lipoidica	Inflammatory abnormality of the skin, Skin nodule, Annular cutaneous lesion, Skin ulcer, Erythema...	ORPHA:542592
Sjogren-Larsson-Like Ichthyosis Without Cns Or Eye Involvement	Congenital ichthyosiform erythroderma, Hyperkeratosis	OMIM:270220
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Neutropenia, Decreased circulating total IgM	OMIM:610798
Dermatoleukodystrophy	Thickened skin, Hyperkeratosis	ORPHA:1659
Sting-Associated Vasculopathy, Infantile-Onset	Recurrent infections, Cutis marmorata, Periungual erythema, Recurrent respiratory infections, Ele...	OMIM:615934
Keratoderma Hereditarium Mutilans With Ichthyosis	Palmoplantar keratoderma, Parakeratosis, Hypergranulosis, Congenital nonbullous ichthyosiform ery...	ORPHA:79395
Specific Granule Deficiency 1	Absent neutrophil lactoferrin, Absent neutrophil specific granules, Increased neutrophil mitochon...	OMIM:245480
Immunodeficiency, Common Variable, 2	Conjunctivitis, Recurrent bacterial infections, Hepatomegaly, Impaired T cell function, Decreased...	OMIM:240500
Transcobalamin Deficiency	Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulat...	ORPHA:859
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Non-Epidermolytic Palmoplantar Keratoderma	Pruritus, Erythema, Skin ulcer	ORPHA:2337
Schnitzler Syndrome	Leukocytosis, Hepatomegaly, Lymphadenopathy, Pruritus, Anemia, Arthritis, Splenomegaly, Urticaria...	ORPHA:37748
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Hypoplasia of the thymus, Reduced antigen-specific T cell proliferation, Reduced delayed hypersen...	OMIM:617241
Autoimmune Lymphoproliferative Syndrome, Type Iia	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Petechiae, Neut...	OMIM:603909
Candidiasis, Familial, 1	Alopecia, Chronic mucocutaneous candidiasis	OMIM:114580
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa, Foll...	OMIM:613736
Agammaglobulinemia 1, Autosomal Recessive	Sinusitis, B lymphocytopenia, Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Pn...	OMIM:601495
Bullous Impetigo	Recurrent bacterial skin infections, Pustule, Erythema, Septic arthritis	ORPHA:36237
Erythrokeratodermia Variabilis Et Progressiva 5	Palmoplantar hyperkeratosis, Hyperkeratosis	OMIM:617756
Alopecia Areata 1	Alopecia totalis, Alopecia universalis, Patchy alopecia, Trachyonychia, Nail pits	OMIM:104000
Netherton Syndrome	Allergic rhinitis, Erythroderma, Angioedema, Brittle hair, Decreased circulating IgG level, Spars...	OMIM:256500
Lymphoma, Hodgkin, Classic	Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM	OMIM:236000
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased circulating total IgA, Erythroderma, Pneumonia, Recurrent herpes, Failure to thrive sec...	ORPHA:169160
Verrucous Hemangioma	Hyperkeratotic papule, Inflammatory abnormality of the skin	ORPHA:464318
Reticular Dysgenesis	Lack of T cell function, Leukopenia, Impaired T cell function, Hypoplasia of the thymus, Congenit...	OMIM:267500
Dysplasia Of Head Of Femur, Meyer Type	Flattened femoral head, Leukocytosis, Congenital hip dislocation, Multicentric femoral head ossif...	ORPHA:168621
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Recurrent bacterial infections, Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocyto...	OMIM:202700
Cerebellar Ataxia And Ectodermal Dysplasia	Alopecia, Sparse hair, Ectodermal dysplasia	OMIM:212835
Immunodeficiency 27A	Leukocytosis, Enlarged mesenteric lymph node, Thrombocytosis, Pneumonia, Lymphadenopathy, Salmone...	OMIM:209950
Immunodeficiency 25	Erythroderma, Recurrent herpes, Complete or near-complete absence of specific antibody response t...	OMIM:610163
Alopecia Universalis	Alopecia universalis, Patchy alopecia, Absent eyebrow, Absent eyelashes	ORPHA:701
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Eczema, Lymphadenopathy, Hepatosplenomegaly, Hemolytic anemia, Enlarged tonsils, Autoimmune hemol...	OMIM:606367
Hypotrichosis 11	Alopecia, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Absent axil...	OMIM:615059
Adult Idiopathic Neutropenia	Recurrent bacterial infections, Neutropenia, Helicobacter pylori infection, Monocytosis, Recurren...	ORPHA:2688
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Sepsis, Recurrent opportunistic infections, Recurrent herpes, Severe recurrent varicella, Decreas...	ORPHA:276
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Decreased circula...	OMIM:300400
Cole Disease	Hypergranulosis, Palmoplantar keratoderma, Hyperkeratosis	OMIM:615522
Immunodeficiency 79	Decreased proportion of CD4-positive T cells	OMIM:619238
Infantile Digital Fibromatosis	Hyperkeratosis, Parakeratosis	ORPHA:199267
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	B lymphocytopenia, Recurrent opportunistic infections, Pneumonia, Failure to thrive secondary to ...	OMIM:601457
Immunodeficiency, Common Variable, 11	Increased circulating IgE level, Decreased circulating IgG level, Decreased proportion of class-s...	OMIM:615767
Panniculitis-Induced Localized Lipodystrophy	Inflammatory abnormality of the skin, Erythema, Reduced subcutaneous adipose tissue, Vasculitis i...	ORPHA:90159
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Decreased circulating total IgM, Splenomegaly	OMIM:606445
Acne Inversa, Familial, 1	Acne inversa	OMIM:142690
Immunodeficiency 12	Recurrent bacterial infections, Recurrent viral infections, Osteoporosis	OMIM:615468
Immunodeficiency 86	Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level, BCGitis	OMIM:619549
Seborrhea-Like Dermatitis With Psoriasiform Elements	Seborrheic dermatitis, Hyperkeratosis	OMIM:610227
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant	Eosinophilia, Recurrent sinopulmonary infections, Recurrent fungal infections, Craniosynostosis, ...	OMIM:147060
Epidermolysis Bullosa Simplex 1C, Localized	Hyperkeratosis	OMIM:131800
Immunodeficiency 15A	Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr...	OMIM:618204
Centrifugal Lipodystrophy	Inflammatory abnormality of the skin, Lack of facial subcutaneous fat, Lymphadenitis, Alopecia, R...	ORPHA:90156
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, B lymphocytopenia, Decreased circulating Ig...	OMIM:618987
Immunodeficiency 46	Sepsis, Neutropenia, Recurrent sinopulmonary infections, Chronic oral candidiasis, Decreased circ...	OMIM:616740
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Tularemia	Brain abscess, Leukocytosis, Conjunctival hyperemia, Mediastinal lymphadenopathy, Thrombocytopeni...	ORPHA:3392
Cutaneous Small Vessel Vasculitis	Erythema, Urticaria, Cutis marmorata, Recurrent skin infections, Skin rash, Purpura	ORPHA:889
Porokeratosis 3, Multiple Types	Porokeratosis, Parakeratosis	OMIM:175900
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Orthokeratosis, Acne inversa, Hyperkeratosis	OMIM:617337
Familial Reactive Perforating Collagenosis	Hyperkeratotic papule, Inflammatory abnormality of the skin, Pruritus, Perifolliculitis, Maculopa...	ORPHA:79147
Alopecia Totalis	Alopecia, Alopecia of scalp	ORPHA:700
Alopecia Universalis Congenita	Alopecia universalis, Alopecia	OMIM:203655
Hypotrichosis Simplex Of The Scalp	Fine hair, Atopic dermatitis, Allergic rhinitis, Alopecia of scalp, Pruritus, Parakeratosis, Slow...	ORPHA:90368
Thrombocytopenia, Cyclic	Thrombocytopenia, Neutropenia, Cyclic neutropenia	OMIM:188020
Griscelli Syndrome, Type 2	Recurrent bacterial infections, Silver-gray hair, Reduced delayed hypersensitivity, Hepatosplenom...	OMIM:607624
Cutaneous Photosensitivity And Colitis, Lethal	Early cutaneous photosensitivity, Colitis, Erythema	OMIM:219095
Autoinflammation With Arthritis And Dyskeratosis	Keratoconjunctivitis sicca, Hepatomegaly, Increased circulating IgA level, Increased circulating ...	OMIM:617388
Tylosis With Esophageal Cancer	Diffuse palmoplantar hyperkeratosis, Parakeratosis	OMIM:148500
Palmoplantar Keratoderma-Deafness Syndrome	Palmoplantar keratoderma, Hyperkeratosis	ORPHA:2202
Autoimmune Lymphoproliferative Syndrome, Type Iii	Lymphadenopathy, Recurrent infections, Splenomegaly, Increased proportion autoreactive unresponsi...	OMIM:615559
Caspase 8 Deficiency	Eczema, Pneumonia, Recurrent herpes, Decreased circulating IgA level, Lymphadenopathy, Decreased ...	OMIM:607271
Okt4 Epitope Deficiency	Abnormal T cell morphology	OMIM:613949
Diamond-Blackfan Anemia 18	Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia	OMIM:618310
Immunodeficiency 51	Eczema, Folliculitis, Pustule, Chronic furunculosis, Pneumonia, Chronic oral candidiasis, Recurre...	OMIM:613953
Autosomal Dominant Epidermolytic Ichthyosis	Erythroderma, Palmoplantar keratoderma, Ichthyosis, Hyperkeratosis, Congenital bullous ichthyosif...	ORPHA:312
Peeling Skin Syndrome 4	Orthokeratosis, Palmoplantar keratoderma, Ichthyosis, Hyperkeratosis	OMIM:607936
Porokeratosis 1, Multiple Types	Porokeratosis, Parakeratosis	OMIM:175800
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Jaundice, Increased circulating...	OMIM:603552
Retinal Dysplasia, Primary	Falciform retinal fold, Retinal dysplasia	OMIM:312550
Immunodeficiency 81	Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs...	OMIM:619374
Mental Retardation, Fra12A Type	Hyperkeratosis	OMIM:136630
Agammaglobulinemia 8, Autosomal Dominant	B lymphocytopenia, Agammaglobulinemia	OMIM:616941
Epidermolysis Bullosa Dystrophica, Pretibial	Pruritus, Hyperkeratosis	OMIM:131850
Peeling Skin Syndrome 1	Onycholysis, Pruritus, Brittle hair, Erythema, Abnormality of hair texture, Scaling skin	OMIM:270300
Olmsted Syndrome 2	Cheilitis, Pruritus, Palmoplantar keratoderma, Parakeratosis, Perioral hyperkeratosis, Hyperkerat...	OMIM:619208
Dermatitis, Atopic	Atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Recurrent skin infections, Facial erythem...	OMIM:603165
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	OMIM:144150
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Plasmacytosis, Increased circulating antibody level, Lymphopenia, Autoimmune hemolytic anemia	OMIM:247800
Immunodeficiency With Hyper-Igm, Type 5	Recurrent bacterial infections, Decreased circulating IgA level, Lymphadenopathy, Decreased circu...	OMIM:608106
Whim Syndrome 2	Chronic neutropenia	OMIM:619407
Pgm3-Cdg	Sepsis, Eczema, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Chronic otitis...	ORPHA:443811
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Immunodeficiency With Hyper-Igm, Type 1	Sepsis, Neutropenia, Stomatitis, Hepatitis, Splenomegaly, Dysgammaglobulinemia, Hemolytic anemia,...	OMIM:308230
Reticulate Acropigmentation Of Kitamura	Hyperkeratosis	OMIM:615537
Angioma Serpiginosum, Autosomal Dominant	Hyperkeratosis	OMIM:106050
Papillomatosis, Confluent And Reticulated	Hyperkeratosis	OMIM:167900
Agammaglobulinemia 4, Autosomal Recessive	Agammaglobulinemia, Neutropenia	OMIM:613502
Acrokeratoelastoidosis Of Costa	Hyperkeratotic papule, Hypergranulosis, Orthokeratosis, Granulomatosis, Palmoplantar hyperkeratos...	ORPHA:38
Alopecia, Congenital	Alopecia, Sparse hair	OMIM:300042
Sézary Syndrome	Hepatomegaly, Erythroderma, Ectropion, Lymphadenopathy, Abnormal immunoglobulin level, Nail dystr...	ORPHA:3162
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD4-pos...	OMIM:611926
Acrokeratosis Verruciformis	Acrokeratosis, Hyperkeratosis	OMIM:101900
Epidermolytic Hyperkeratosis	Congenital bullous ichthyosiform erythroderma, Erythroderma, Palmoplantar hyperkeratosis	OMIM:113800
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Eczema, Psoriasiform dermatitis, Bronchiectasis, Decreased circulating IgA level, L...	OMIM:616100
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Leukemia, Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytoh...	OMIM:153600
Proliferating Trichilemmal Cyst	Epidermoid cyst, Skin ulcer	ORPHA:492
Pruritic Urticarial Papules And Plaques Of Pregnancy	Eczematoid dermatitis, Pruritis on breast, Pruritis on hand, Pruritis on abdomen, Pruritus, Parak...	ORPHA:64745
Cernunnos-Xlf Deficiency	B lymphocytopenia, Decreased circulating antibody level, Anemia, Lymphopenia, Thrombocytopenia, T...	ORPHA:169079
Immunodeficiency 69	Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Increased circulating ferritin concentration,...	OMIM:618963
Cyclic Neutropenia	Neutropenia, Cyclic neutropenia	OMIM:162800
Candidiasis, Familial, 2	Increased circulating IgE level, Hypereosinophilia	OMIM:212050
Trichodysplasia-Xeroderma Syndrome	Brittle hair, Alopecia, Coarse hair, Sparse and thin eyebrow, Trichorrhexis nodosa, Pili torti, D...	ORPHA:3361
Immunodeficiency 20	Reduced natural killer cell count, Reduced natural killer cell activity	OMIM:615707
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations	Neutropenia, Lymphopenia	OMIM:614868
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Thickened skin, Arthritis, Urticaria, Lymphopenia, Eosinophilia	ORPHA:2582
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Hypoplasia of the thymus, Agammaglobulinemia, Lymphopenia	OMIM:200900
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Psoriasiform dermatitis, Blepharitis, Ichthyosis	OMIM:616834
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Chronic active Epstein-Barr virus infection, Severe varicella zoster infection, Mediastinal lymph...	OMIM:300853
Immunodeficiency, Common Variable, 8, With Autoimmunity	Sepsis, Inflammation of the large intestine, Lymphadenopathy, Recurrent infections, Splenomegaly,...	OMIM:614700
Pseudopelade Of Brocq	Abnormal hair morphology, Cheilitis, Alopecia, Recurrent skin infections, Abnormality of the nail...	ORPHA:129
X-Linked Agammaglobulinemia	Sinusitis, Sepsis, Agammaglobulinemia, Neutropenia, Recurrent cutaneous abscess formation, Chroni...	ORPHA:47
Dowling-Degos Disease 2	Hyperkeratotic papule, Follicular hyperkeratosis	OMIM:615327
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
Bazex Syndrome	Acanthosis nigricans, Yellow nails, Nail dystrophy, Palmoplantar keratoderma, Anemia, Pruritus, P...	ORPHA:166113
Ichthyosis, Congenital, Autosomal Recessive 14	Scaling skin, Pruritus, Erythema	OMIM:617571
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Lymphadenopathy, Recurrent otitis media, Splenomegaly, Recurrent urinary tract infe...	OMIM:618495
Ichthyosis, Congenital, Autosomal Recessive 1	Erythroderma, Palmoplantar hyperkeratosis, Congenital ichthyosiform erythroderma, Parakeratosis	OMIM:242300
Bullous Diffuse Cutaneous Mastocytosis	Pruritus, Urticaria, Erythroderma	ORPHA:280785
Prader-Willi Habitus, Osteopenia, And Camptodactyly	Enlarged epiphyses, Osteoporosis, Joint contracture of the hand, Osteopenia, Camptodactyly	OMIM:264010
Avascular Necrosis Of Femoral Head, Primary, 1	Avascular necrosis of the capital femoral epiphysis, Generalized osteoporosis	OMIM:608805
Immunodeficiency 52	Death in infancy, Bronchiectasis, Lymphadenopathy, Increased proportion of gamma-delta T cells, C...	OMIM:617514
Diffuse Cutaneous Mastocytosis	Abnormality of the spleen, Hepatomegaly, Erythroderma, Lymphadenopathy, Pruritus, Thickened skin,...	ORPHA:79456
Neonatal Inflammatory Skin And Bowel Disease	Psoriasiform dermatitis, Chronic monilial nail infection, Pustule, Chapped lip, Erythema, Horizon...	ORPHA:294023
Kimura Disease	Increased circulating IgE level, Eosinophilia	ORPHA:482
Bathing Suit Ichthyosis	Erythroderma, Thickened skin, Parakeratosis, Congenital nonbullous ichthyosiform erythroderma, Ic...	ORPHA:100976
Benign Cephalic Histiocytosis	Inflammatory abnormality of the skin, Skin rash	ORPHA:157997
Combined Immunodeficiency Due To Dock8 Deficiency	B lymphocytopenia, T lymphocytopenia, Increased circulating IgE level	ORPHA:217390
Ectodermal Dysplasia 4, Hair/Nail Type	Onycholysis, Temporal hypotrichosis, Brittle hair, Alopecia, Absent eyebrow, Absent eyelashes, Na...	OMIM:602032
Familial Hemophagocytic Lymphohistiocytosis	Neutropenia, Petechiae, Lymphadenopathy, Decreased circulating antibody level, Splenomegaly, Incr...	ORPHA:540
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Thrombocytosis, Cystic acne, Sterile arthritis, Sterile abscess, Elevated circulating C-reactive ...	OMIM:604416
Agammaglobulinemia 6, Autosomal Recessive	Recurrent bacterial infections, Agammaglobulinemia, Recurrent bronchitis, Chronic sinusitis, Recu...	OMIM:612692
Interstitial Granulomatous Dermatitis With Arthritis	Inflammatory abnormality of the skin, Pruritus, Rheumatoid arthritis, Erythema	ORPHA:79099
White Sponge Nevus 2	Hyperparakeratosis	OMIM:615785
Whim Syndrome 1	Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia	OMIM:193670
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Decreased circulating antibody level, Anemia, Abnormal natural killer cell physiology, Splenomega...	OMIM:613101
Granulomatous disease with defect in neutrophil chemotaxis	Impaired neutrophil killing of staphylococci	OMIM:233670
Omenn Syndrome	B lymphocytopenia, Hepatomegaly, Hypoproteinemia, Erythroderma, Pneumonia, Lymphadenopathy, Thick...	OMIM:603554
Palmoplantar Keratoderma, Nagashima Type	Hypergranulosis, Orthokeratotic hyperkeratosis	OMIM:615598
Angioma Serpiginosum	Erythema, Vascular skin abnormality	ORPHA:95429
Neonatal Lupus Erythematosus	Hepatomegaly, Neutropenia, Cutaneous photosensitivity, Anemia, Splenomegaly, Parakeratosis, Abnor...	ORPHA:398124
Omenn Syndrome	Leukocytosis, Hepatomegaly, Eosinophilia, Erythroderma, Pneumonia, Lymphadenopathy, Pruritus, Thi...	ORPHA:39041
Immunodeficiency 40	Lymphopenia	OMIM:616433
Immunodeficiency 17	Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia	OMIM:615607
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Lymp...	OMIM:617099
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal B cell count, Decreased circulating antibody level, Recurrent upper and lower respirator...	ORPHA:331206
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Olmsted Syndrome 1	Pruritus, Palmoplantar keratoderma, Subungual hyperkeratosis, Parakeratosis	OMIM:614594
Autosomal Dominant Severe Congenital Neutropenia	Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Acute lymphobl...	ORPHA:486
Immunodeficiency By Defective Expression Of Mhc Class Ii	Sinusitis, Neutropenia, Lack of T cell function, Recurrent herpes, Neutropenia in presence of ant...	ORPHA:572
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Death in infancy, BCGosis, Monocytosis, Lymphadenopathy, Death in childhood, Recurr...	OMIM:619644
Acquired Idiopathic Sideroblastic Anemia	Leukocytosis, Thrombocytosis, Hepatomegaly, Neutropenia, Normocytic anemia, Megaloblastic erythro...	ORPHA:75564
Autosomal Agammaglobulinemia	Sinusitis, Sepsis, Agammaglobulinemia, Neutropenia, Bronchiectasis, Chronic otitis media, Hepatit...	ORPHA:33110
Pemphigus Foliaceus	Psoriasiform dermatitis, Erythroderma, Pustule, Pruritus, Erythema, Scaling skin, Crusting erythe...	ORPHA:79481
Mal De Meleda	Inflammatory abnormality of the skin, Erythema, Superficial dermal perivascular inflammatory infi...	ORPHA:87503
Iga Pemphigus	Pustule, Acantholysis, Increased circulating IgA level, Pruritus, Neutrophilic infiltration of th...	ORPHA:555905
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive	Atopic dermatitis, Eczema, Bronchiectasis, Pruritus, Alopecia, Recurrent otitis media, Chronic mu...	OMIM:618282
Krt1-Related Diffuse Nonepidermolytic Keratoderma	Atopic dermatitis, Dry skin, Erythema, Concave nail, Scaling skin, Palmoplantar scaling skin	ORPHA:530838
Immunodeficiency, Common Variable, 12, With Autoimmunity	Bronchiectasis, Pyoderma gangrenosum, Recurrent sinopulmonary infections, Decreased circulating a...	OMIM:616576
Peeling Skin Syndrome 5	Hyperkeratosis	OMIM:617115
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia	Osteoporosis, Osteopenia	OMIM:615269
Congenital Panfollicular Nevus	Hyperkeratosis	ORPHA:139414
Ichthyosis, Hystrix-Like, With Deafness	Erythroderma, Palmoplantar keratoderma, Punctate keratitis, Ichthyosis, Hyperkeratosis	OMIM:602540
Immunodeficiency 67	Increased circulating IgE level, Transient neutropenia, Liver abscess	OMIM:607676
Fetal Cytomegalovirus Syndrome	Hepatomegaly, Anemia, Splenomegaly	ORPHA:294
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive	Craniosynostosis, Recurrent otitis media, Joint contracture of the hand, Clubbing, Increased circ...	OMIM:618523
Idiopathic Localized Lipodystrophy	Inflammatory abnormality of the skin, Pruritus, Erythema, Reduced subcutaneous adipose tissue, Sc...	ORPHA:90158
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Sepsis, Severe varicella zoster infection, Neutropenia, Hepatosplenomegaly, Pancytopenia, Monocyt...	OMIM:618986
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Hyperkeratosis	OMIM:615028
Neurologic Disease, Infantile Multisystem, With Osseous Fragility	Hip subluxation, Hip dislocation, Recurrent fractures, Osteoporosis	OMIM:256720
Indolent Systemic Mastocytosis	Hepatomegaly, Lymphadenopathy, Pruritus, Splenomegaly, Abnormal mast cell morphology, Generalized...	ORPHA:98848
Immunodeficiency 48	Eczematoid dermatitis, Hepatomegaly, Pneumonia, Splenomegaly, Panhypogammaglobulinemia, Recurrent...	OMIM:269840
X-Linked Lymphoproliferative Disease	Myocarditis, Inflammation of the large intestine, Lymphadenopathy, Decreased circulating antibody...	ORPHA:2442
Adult-Onset Still Disease	Myocarditis, Leukocytosis, Hepatomegaly, Pericarditis, Abnormal circulating lipid concentration, ...	ORPHA:829
Odonto-Onycho Dysplasia-Alopecia Syndrome	Sparse and thin eyebrow, Alopecia, Hypoplastic toenails, Abnormal fingernail morphology, Sparse h...	ORPHA:2722
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Eczema, Leukopenia, Monocytosis, Refractory anemia, Bone marrow hypocellularity, Acute myeloid le...	OMIM:616871
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Leukocytosis, Anemia, Ulcerative colitis	OMIM:619398
Eosinophilia, Familial	Leukocytosis, Recurrent bronchitis, Anemia, Thrombocytopenia, Eosinophilia	OMIM:131400
Inflammatory Skin And Bowel Disease, Neonatal, 1	Erythroderma, Pustule, Perianal erythema, Perioral erythema, Paronychia, Onychogryposis, Blepharitis	OMIM:614328
Hyper-Igd Syndrome	Leukocytosis, Increased circulating IgA level, Lymphadenopathy, Lymphadenitis, Chronic oral candi...	OMIM:260920
Immunoglobulin A Deficiency 2	Decreased circulating IgA level, Abnormal lymphocyte morphology	OMIM:609529
Rosaï-Dorfman Disease	Lymphadenopathy, Dysgammaglobulinemia, Erythema, Anemia	ORPHA:158014
Orthostatic Hypotensive Disorder, Streeten Type	Bruising susceptibility, Facial erythema	OMIM:143850
Neutrophilia, Hereditary	Neutrophilia, Hepatosplenomegaly	OMIM:162830
Immunodeficiency 85 And Autoimmunity	Eczema, Erythroderma, Decreased circulating IgA level, Oligoarthritis, Decreased circulating IgG ...	OMIM:619510
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia	Osteoporosis, Osteopenia	OMIM:615271
Immunodeficiency, Common Variable, 14	Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased specifi...	OMIM:617765
Acute Myelomonocytic Leukemia	Leukocytosis, Anemia, Thrombocytopenia, Eosinophilia, Pallor	ORPHA:517
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Pruritus, Palmoplantar keratoderma, Parakeratosis, Ichthyosis, Hyperkeratosis	OMIM:615821
Immunodeficiency 89 And Autoimmunity	Hypochromic microcytic anemia, Bronchiectasis, Increased circulating IgA level, Increased circula...	OMIM:619632
Boutonneuse Fever	Leukopenia, Petechiae, Lymphadenopathy, Increased circulating IgG level, Increased circulating Ig...	ORPHA:83313
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Cholangitis, Sparse eyelashes, Epidermal acanthosis, Alopecia, Parakeratosis, Ortho...	OMIM:607626
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Sparse eyelashes, Folliculitis, Nail dystrophy, Alopecia, Scarring alopecia of scalp, Keratitis, ...	OMIM:612843
Alopecia-Intellectual Disability Syndrome 3	Alopecia universalis	OMIM:613930
Alopecia-Intellectual Disability Syndrome 2	Alopecia universalis	OMIM:610422
Erythema Palmare Hereditarium	Erythema	OMIM:133000
Alopecia, Familial Focal	Patchy alopecia	OMIM:104110
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Alopecia-Mental Retardation Syndrome 1	Alopecia universalis	OMIM:203650
Benign Chronic Pemphigus	Erythema	OMIM:169600
Annular Erythema	Erythema	OMIM:106500
Vulvovaginal Gingival Syndrome	Ridged nail, Pruritus, Erythema, Parakeratosis, Abnormality of tumor necrosis factor secretion, E...	ORPHA:83453
Mu-Heavy Chain Disease	Abnormal B cell count, Osteoporosis, Anemia, Splenomegaly, Increased circulating antibody level, ...	ORPHA:100024
Juvenile Arthritis	Thrombocytosis, Leukocytosis, Skin rash	OMIM:618795
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia	Osteoporosis, Osteopenia	OMIM:615270
Ectodermal Dysplasia 7, Hair/Nail Type	Sparse eyelashes, Dystrophic fingernails, Onycholysis, Dystrophic toenail, Brittle hair, Alopecia...	OMIM:614929
Juvenile Idiopathic Arthritis	Hepatomegaly, Psoriasiform dermatitis, Mediastinal lymphadenopathy, Thickened skin, Abnormal fing...	ORPHA:92
Acral Peeling Skin Syndrome	Scaling skin, Excessive wrinkling of palmar skin, Eczema, Erythema	ORPHA:263534
Lichtenstein Syndrome	Neutropenia, Decreased circulating IgA level, Ulnar deviation of finger, Increased susceptibility...	OMIM:246550
Agammaglobulinemia 2, Autosomal Recessive	Recurrent bacterial infections, Agammaglobulinemia, Meningitis, Recurrent pneumonia, Recurrent re...	OMIM:613500
Trichodysplasia-Xeroderma	Sparse eyelashes, Dry hair, Dry skin, Brittle hair, Alopecia, Coarse hair, Sparse scalp hair, Spa...	OMIM:190360
Atrichia With Papular Lesions	Generalized papillary lesions, Sparse hair	OMIM:209500
Chronic Actinic Dermatitis	Late onset atopic dermatitis, Eczema, Allergic rhinitis, Erythroderma, Cutaneous photosensitivity...	ORPHA:330064
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Aplasia of the thymus, Panhypogammaglobulinemia, Absent tonsils, Lymph node hypoplasia	OMIM:602450
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eczema, Neutropenia, Erythroderma, Glomerulonephritis, Lymphadenopathy, Coombs-positive hemolytic...	OMIM:304790
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Inflammation of the large intestine, Folliculitis, Colitis, Decreased circulating a...	OMIM:300635
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Neutropenia	OMIM:616022
Aquagenic Palmoplantar Keratoderma	Atopic dermatitis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Palmar pruritus	ORPHA:498359
Immunodeficiency 23	Eczema, Severe varicella zoster infection, Neutropenia, Recurrent staphylococcal infections, Recu...	OMIM:615816
Neutropenia, Severe Congenital, X-Linked	Neutropenia	OMIM:300299
Immunoerythromyeloid Hypoplasia	Decreased circulating IgG level, Erythroid hypoplasia	OMIM:242880
Dracunculiasis	Recurrent cutaneous abscess formation, Arthritis, Skin rash, Subcutaneous nodule, Skin ulcer	ORPHA:231
Ichthyosis-Prematurity Syndrome	Eosinophilia, Ichthyosis	ORPHA:88621
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Increased circulating IgA level, Thrombocytopenia, Glomerulonephritis	OMIM:314000
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Neutropenia	ORPHA:90023
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Poikiloderma With Neutropenia	Plantar hyperkeratosis, Neutropenia, Elevated circulating creatine kinase concentration, Recurren...	OMIM:604173
Extensor Tendons Of Finger Anomalies	Osteoporosis, Limitation of joint mobility, Camptodactyly of finger	ORPHA:3294
Dermatofibrosarcoma Protuberans	Subcutaneous nodule, Erythema, Skin ulcer	ORPHA:31112
Purine Nucleoside Phosphorylase Deficiency	Neutropenia in presence of anti-neutropil antibodies, Impaired T cell function, Lymph node hypopl...	OMIM:613179
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss	Alopecia of scalp, Dystrophic toenail, Alopecia, Onychogryposis of toenails, Sparse body hair	OMIM:617294
Keratolytic Winter Erythema	Erythema	OMIM:148370
Mastocytosis, Cutaneous	Urticaria, Erythema, Telangiectasia macularis eruptiva perstans	OMIM:154800
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Eczema, Decreased prealbumin level, Neutropenia, Tubulointerstitial nephritis, Neutropenia in pre...	ORPHA:37042
Immunodeficiency With Hyper-Igm, Type 4	Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Bronchiectasis...	OMIM:608184
Proteasome-Associated Autoinflammatory Syndrome 3	Sinusitis, Hepatomegaly, Myositis, Lymphadenopathy, Panniculitis, Anemia, Arthritis, Recurrent in...	OMIM:617591
Autoimmune Lymphoproliferative Syndrome	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ...	ORPHA:3261
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Pruritus, Splenomegaly, Myeloproliferative disorder, Eosinophilia	OMIM:607685
Erythrokeratodermia Variabilis	Abnormal hair morphology, Cutaneous photosensitivity, Alopecia, Erythema, Abnormality of the nail...	ORPHA:317
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Thrombocytosis, Macrocytic anemia, Eczema, Decreased circulating antibody level, Megaloblastic an...	OMIM:617780
Immunodeficiency, Common Variable, 13	Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level	OMIM:616873
Palmoplantar Keratoderma And Congenital Alopecia 2	Nail dystrophy, Alopecia totalis, Nail dysplasia, Facial erythema, Dry skin	OMIM:212360
Immunodeficiency, Common Variable, 7	Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag...	OMIM:614699
Acquired Ichthyosis	Dry skin, Pruritus, Recurrent skin infections, Erythema	ORPHA:454
Progressive Symmetric Erythrokeratodermia	Erythema	ORPHA:316
Hyperkeratosis-Hyperpigmentation Syndrome	Hyperkeratosis	ORPHA:1336
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Telangiectasia, Dystrophic fingernails, Cutaneous photosensitivity, Dystrophic toenail, Erythema,...	ORPHA:158673
Immunodeficiency With Hyper-Igm, Type 2	Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Decreased circ...	OMIM:605258
Pyoderma Gangrenosum	Inflammation of the large intestine, Pustule, Myositis, Atrophic scars, Increased circulating ant...	ORPHA:48104
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center	OMIM:235550
Porphyria Cutanea Tarda, Type I	Eczema, Fragile skin, Hypertrichosis	OMIM:176090
Winchester Syndrome	Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the feet, Generalize...	OMIM:277950
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	B lymphocytopenia, Decreased specific antibody response to polysaccharide vaccine, Decreased spec...	ORPHA:70593
Immunodeficiency 70	B lymphocytopenia, Decreased circulating total IgA, Decreased circulating total IgG, Decreased ci...	OMIM:618969
Immunodeficiency 61	Recurrent bacterial infections, Agammaglobulinemia, Recurrent otitis media, Arthritis, Recurrent ...	OMIM:300310
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
Keratosis Pilaris Atrophicans	Erythema, Sparse eyebrow, Absent eyelashes	OMIM:604093
Familial Cold Autoinflammatory Syndrome 3	Allergic rhinitis, Angioedema, Pruritus, Cold urticaria, Recurrent otitis media, Erythema, Dermat...	OMIM:614468
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Pruritus, Parakeratosis	ORPHA:158681
Chilblain Lupus	Inflammatory abnormality of the skin, Erythematous papule, Discoid lupus rash, Chronic myelomonoc...	ORPHA:90280
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating IgG level, Neutropenia, Decreased circulating total IgM	ORPHA:2643
Alopecia-Epilepsy-Oligophrenia Syndrome Of Moynahan	Alopecia, Sparse hair	OMIM:203600
Myelolymphatic Insufficiency	Recurrent bacterial infections, Recurrent viral infections, Hyposegmentation of neutrophil nuclei...	OMIM:310350
Juvenile Temporal Arteritis	Leukocytosis, Eosinophilia, Allergic rhinitis, Conjunctivitis	ORPHA:26137
Roifman Syndrome	Delayed proximal femoral epiphyseal ossification, Hip contracture, Broad femoral head, Decreased ...	ORPHA:353298
Zinc Deficiency, Transient Neonatal	Eczema, Alopecia	OMIM:608118
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Predominantly dermal neutrophilic infiltrate, Pustule, Superficial dermal perivascular inflammato...	ORPHA:284426
Cd8 Deficiency, Familial	Absence of CD8-positive T cells	OMIM:608957
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Sparse eyelashes, Folliculitis, Dystrophic fingernails, Scarring alopecia of scalp, Keratitis, Na...	OMIM:308800
Forsythe-Wakeling Syndrome	Thrombocytopenia, Osteoporosis	OMIM:613606
Generalized Eruptive Histiocytosis	Leukemia, Pruritus, Hypereosinophilia, Maculopapular exanthema, Histiocytosis	ORPHA:157991
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Recurrent bacterial infections, Recurrent opportunistic infections, Decreased circulating IgA lev...	ORPHA:275
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent opportunistic infections, Stomatitis, Lymphadenopathy, Recurrent upper and lower respir...	ORPHA:911
Parc Syndrome	Alopecia, Absent eyebrow, Absent eyelashes	OMIM:600331
Superficial Epidermolytic Ichthyosis	Palmoplantar keratoderma, Acantholysis, Ichthyosis, Thin skin	ORPHA:455
Primary Myelofibrosis	Ecchymosis, Leukocytosis, Thrombocytosis, Hepatomegaly, Petechiae, Lymphadenopathy, Anemia, Splen...	ORPHA:824
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Eczematoid dermatitis, Recurrent E. coli infections, Hepatomegaly, Lymphadenopathy, Lymphadenitis...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Eczematoid dermatitis, Recurrent E. coli infections, Hepatomegaly, Lymphadenopathy, Lymphadenitis...	OMIM:233710
Reticular Dysgenesis	Leukopenia, Chronic otitis media, Decreased circulating antibody level, Anemia, Skin rash, Abnorm...	ORPHA:33355
Hypotrichosis 1	Sparse eyelashes, Sparse eyebrow, Sparse pubic hair, Sparse axillary hair, Sparse hair, Sparse bo...	OMIM:605389
Immunodeficiency 11B With Atopic Dermatitis	Atopic dermatitis, Eosinophilia, Pneumonia	OMIM:617638
Congenital Disorder Of Glycosylation, Type Iic	Pneumonia, Recurrent otitis media, Bronchiolitis, Periodontitis, Reduction of neutrophil motility...	OMIM:266265
Cinca Syndrome	Leukocytosis, Lymphadenopathy, Anemia, Arthritis, Hepatosplenomegaly, Uveitis, Skin rash, Eosinop...	OMIM:607115
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Bronchiectasis, Pyoderma gangrenosum, Chr...	OMIM:150550
Ichthyosis Prematurity Syndrome	Allergic rhinitis, Erythroderma, Pruritus, Follicular hyperkeratosis, Generalized ichthyosis	OMIM:608649
Erythrokeratoderma ''En Cocardes''	Hyperkeratosis	ORPHA:315
Peeling Skin Syndrome 2	Scaling skin, Erythema	OMIM:609796
Erythrokeratodermia Variabilis Et Progressiva 3	Hypergranulosis, Palmoplantar keratoderma, Hyperkeratosis	OMIM:617525
Maculopapular Cutaneous Mastocytosis	Pruritus, Erythema, Dermatographic urticaria, Generalized abnormality of skin, Darier's sign, Flu...	ORPHA:79457
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Eczema, Lymphadenopathy, Lymphadenitis, Abscess, Recurrent infections, Onychomycosis, Splenomegal...	OMIM:618935
Chilblain Lupus 1	Skin ulcer	OMIM:610448
Mucopolysaccharidosis-Plus Syndrome	Sepsis, Hirsutism, Neutropenia, Telecanthus, Splenomegaly, Low posterior hairline, Recurrent resp...	OMIM:617303
Selective Igm Deficiency	Sepsis, Non-infectious meningitis, Severe varicella zoster infection, Recurrent herpes, Neutropen...	ORPHA:331235
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Alopecia totalis	ORPHA:1014
Odontoonychodermal Dysplasia	Fine hair, Anonychia, Dry hair, Dystrophic fingernails, Dystrophic toenail, Sparse body hair, Ery...	OMIM:257980
Granulomatous Disease, Chronic, X-Linked	Eczematoid dermatitis, Recurrent E. coli infections, Hepatomegaly, Lymphadenopathy, Lymphadenitis...	OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Eczematoid dermatitis, Recurrent E. coli infections, Hepatomegaly, Lymphadenopathy, Lymphadenitis...	OMIM:233690
Autosomal Erythropoietic Protoporphyria	Pruritus, Eczema, Erythema, Cutaneous photosensitivity	ORPHA:79278
Pili Torti-Onychodysplasia Syndrome	Eczema, Brittle hair, Alopecia, Absent eyebrow, Absent eyelashes, Nail dystrophy, Ectodermal dysp...	ORPHA:2890
Laryngoonychocutaneous Syndrome	Skin ulcer	OMIM:245660
Insulin-Resistance Syndrome Type A	Hyperkeratosis	ORPHA:2297
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	B lymphocytopenia, Decreased circulating IgA level, Reduced red cell adenosine deaminase level, S...	OMIM:102700
Erythema Of Acral Regions	Erythema	OMIM:227000
Ulerythema Ophryogenesis	Dry skin, Sparse lateral eyebrow, Acne, Facial erythema, Contact dermatitis	ORPHA:3406
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Brachydactyly, Osteoporosis, Short distal phalanx of finger, Joint hyperflexibility	ORPHA:2787
Immunodeficiency 92	Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy...	OMIM:619652
Familial Cold Autoinflammatory Syndrome 1	Leukocytosis, Arthritis, Urticaria, Uveitis, Skin rash, Elevated circulating C-reactive protein c...	OMIM:120100
Protoporphyria, Erythropoietic, 1	Pruritus, Eczema, Erythema	OMIM:177000
Hyaline Fibromatosis Syndrome	Osteoporosis, Recurrent infections, Osteopenia, Progressive flexion contractures, Osteolysis	OMIM:228600
Histiocytosis, Progressive Mucinous	Mucinous histiocytosis	OMIM:142630
Pachyonychia Congenita 4	Palmoplantar keratoderma, Hyperkeratosis	OMIM:615728
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Congenital alopecia totalis, Dry skin, Alopecia of scalp, Cutis laxa, Absent pubic hair, Sparse e...	ORPHA:2269
Immunodeficiency 60 And Autoimmunity	Bronchiectasis, Decreased circulating IgA level, Recurrent sinopulmonary infections, Decreased ci...	OMIM:618394
Bare Lymphocyte Syndrome, Type Ii	Recurrent bacterial infections, Cholangitis, Agammaglobulinemia, Neutropenia, Infectious encephal...	OMIM:209920
Wiskott-Aldrich Syndrome	Sepsis, Impaired lymphocyte transformation with phytohemagglutinin, Eczema, Inflammation of the l...	OMIM:301000
Primary Erythromelalgia	Pruritus, Erythema	ORPHA:90026
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive	Recurrent bacterial infections, Recurrent fungal infections, Recurrent sinopulmonary infections, ...	OMIM:243700
Palmoplantar Keratoderma And Congenital Alopecia 1	Brittle hair, Alopecia, Sparse eyebrow, Palmoplantar erythema, Nail dysplasia, Leukonychia, Spars...	OMIM:104100
Immunodeficiency 33	Increased circulating IgA level, Disseminated nontuberculous mycobacterial infection, Recurrent b...	OMIM:300636
Osteoporosis	Osteoporosis	OMIM:166710
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating IgG level, Neutropenia, Decreased circulating total IgM	OMIM:251190
Porphyria Cutanea Tarda	Cutaneous photosensitivity, Onycholysis, Alopecia, Facial hypertrichosis, Fragile skin	OMIM:176100
Wiskott-Aldrich Syndrome, Autosomal Dominant	Absent microvilli on the surface of peripheral blood lymphocytes, Sinusitis, Eczema, Inflammation...	OMIM:600903
Immunodeficiency, Common Variable, 6	Recurrent bacterial infections, Hepatomegaly, Decreased specific pneumococcal antibody level, Glo...	OMIM:613496
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly, Decreased circulating antibody level, Part...	OMIM:618261
Ectodermal Dysplasia And Immunodeficiency 1	Recurrent bacterial infections, Increased circulating IgA level, Reduced natural killer cell acti...	OMIM:300291
Lymphoproliferative Syndrome 2	Sepsis, Hepatomegaly, Severe varicella zoster infection, Ascites, Lymphadenopathy, Decreased circ...	OMIM:615122
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Sinusitis, Enteroviral hepatitis, Recurrent bacterial infections, Infectious encephalitis, Pyoder...	OMIM:307200
Trimethylaminuria	Anemia, Neutropenia, Splenomegaly	OMIM:602079
Alpha-Heavy Chain Disease	Hepatomegaly, Ascites, Lymphadenopathy, Alopecia, Anemia, Splenomegaly, Dysgammaglobulinemia, Hyp...	ORPHA:100025
Immunodeficiency 21	Abnormal natural killer cell morphology, Neutropenia, Lymphopenia, Myeloid leukemia, Monocytopeni...	OMIM:614172
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Acute myeloi...	OMIM:619041
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Erythematous plaque, Erythematous papule, Panniculitis, Hepatosplenomegaly, Hemophagocytosis, Ski...	ORPHA:86884
Chediak-Higashi Syndrome	Neutropenia, Ocular albinism, Lymphadenopathy, Abnormal dense granules, Giant neutrophil granules...	OMIM:214500
Aicardi-Goutieres Syndrome 5	Dry skin, Thrombocytopenia, Chilblains, Scaling skin	OMIM:612952
Congenital Lethal Erythroderma	Dry skin, Urticaria, Congenital exfoliative erythroderma	ORPHA:1954
Isolated Agammaglobulinemia	Sinusitis, Pneumonia, Recurrent cutaneous abscess formation, Abnormal lymphocyte morphology, Anem...	ORPHA:229717
Thymic Aplasia	Sinusitis, Sepsis, Lymphadenopathy, Chronic otitis media, Recurrent infections, Recurrent candida...	ORPHA:83471
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Undritz Anomaly	Hypersegmentation of neutrophil nuclei	OMIM:191500
Immunodeficiency, Common Variable, 5	Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in...	OMIM:613495
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormal macrophage morphology, Abnormality of neutrophils	ORPHA:2690
Papular Xanthoma	Histiocytosis	ORPHA:158008
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Sparse body hair, Sparse scalp hair, Periodontitis, Alopecia universalis, Abnormal eyelash morpho...	ORPHA:1008
Trichothiodystrophy 3, Photosensitive	Congenital nonbullous ichthyosiform erythroderma, Erythroderma, Ichthyosis	OMIM:616395
Immunodeficiency 7	Hypereosinophilia, Recurrent infections	OMIM:615387
Immunodeficiency 88	Eosinophilia	OMIM:619630
Congenital Non-Bullous Ichthyosiform Erythroderma	Erythroderma, Pruritus, Palmoplantar keratoderma, Keratitis, Ichthyosis	ORPHA:79394
Dermatitis Herpetiformis	Eczema, Pruritus, Erythema, Urticaria, Skin vesicle	ORPHA:1656
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Recurrent respiratory infections, Decreased circulating antibody level, Recurrent infections, Rec...	OMIM:617744
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Metaphyseal dysplasia, Decreased circulating antibody level, Recurrent infections, Epiphyseal dys...	OMIM:617425
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Peritonitis, Increased circulating IgA level, Lymphadenopathy, Erythema, Arthritis,...	ORPHA:343
Refractory Anemia	Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Bone marrow hypocellulari...	ORPHA:98826
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive	Hepatomegaly, Eczema, Recurrent opportunistic infections, Pneumonia, Lymphadenopathy, Failure to ...	OMIM:608971
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Recurrent infection of the gastrointestinal tract, B lymphocytopenia, Impaired lymphocyte transfo...	ORPHA:35078
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections, Abnor...	OMIM:308220
Kid Syndrome	Trichilemmoma, Sparse eyelashes, Palmoplantar keratoderma, Acne inversa, Sparse hair, Conjunctivi...	ORPHA:477
Alopecia-Intellectual Disability Syndrome 4	Alopecia, Erythroderma	OMIM:618840
Lig4 Syndrome	Telangiectasia, Psoriasiform dermatitis, Cutaneous photosensitivity	OMIM:606593
Immunodeficiency 57 With Autoinflammation	B lymphocytopenia, Decreased circulating antibody level, Reduced natural killer cell count, Peria...	OMIM:618108
Cutaneous Mastocytoma	Angioedema, Pruritus, Erythema, Telangiectasia of the skin, Dermatographic urticaria, Darier's si...	ORPHA:79455
Ectodermal Dysplasia 9, Hair/Nail Type	Absent hair, Nail dystrophy, Ectodermal dysplasia, Atrichia, Absent eyelashes, Nail dysplasia, Co...	OMIM:614931
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Thrombocytosis, Macrocytic anemia, Leukopenia, Bone marrow hypocellularity, Erythroid hypoplasia,...	ORPHA:86841
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Psoriasiform dermatitis, Bronchiectasis, Nail dystrophy, Decreased circulating antibody level, Al...	ORPHA:293978
Immunodeficiency 84	Recurrent bacterial infections, B lymphocytopenia, Splenomegaly, Perianal abscess, Persistent EBV...	OMIM:619437
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Inflammation of the large intestine, Pruritus, Acne, Arthritis, Palmopla...	ORPHA:324964
Atrophoderma Vermiculata	Hyperkeratotic papule, Pruritus, Erythema, Abnormal epidermal morphology, Follicular hyperkeratosis	ORPHA:79100
Osteoporosis, Juvenile	Osteoporosis	OMIM:259750
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp...	OMIM:617006
Paget Disease, Extramammary	Eczematoid dermatitis	OMIM:167300
Drug Reaction With Eosinophilia And Systemic Symptoms	Myocarditis, Tubulointerstitial nephritis, Erythroderma, Infectious encephalitis, Pustule, Lympha...	ORPHA:139402
Lupus Erythematosus Tumidus	Deep dermal perivascular inflammatory infiltrate, Cutaneous photosensitivity	ORPHA:90283
Leishmaniasis	Skin plaque, Leukopenia, Rhinitis, Anemia, Splenomegaly, Abnormal macrophage morphology, Increase...	ORPHA:507
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal platelet function, Anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia	ORPHA:231393
Ichthyosis, Cyclic, With Epidermolytic Hyperkeratosis	Erythema	OMIM:607602
Immunodeficiency 58	Eczema, Chronic otitis media, Decreased circulating antibody level, Ichthyosis, Allergic rhinitis...	OMIM:618131
Immunodeficiency 36	Recurrent bacterial infections, Chronic lymphatic leukemia, Bronchiectasis, Decreased circulating...	OMIM:616005
Congenital Disorder Of Glycosylation, Type Iik	Metaphyseal dysplasia, Osteoporosis, Epiphyseal dysplasia, Diaphyseal dysplasia, Thrombocytopenia...	OMIM:614727
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency	Decreased circulating IgG level, Neutropenia	OMIM:600351
Postinfectious Vasculitis	Severe varicella zoster infection, Cutis marmorata, Recurrent candida infections, Elevated circul...	ORPHA:48435
Erythrokeratodermia Variabilis Et Progressiva 4	Palmoplantar hyperkeratosis, Hyperkeratosis	OMIM:617526
Netherton Syndrome	Fine hair, Eczema, Sparse eyelashes, Abnormal hair morphology, Erythroderma, Decreased circulatin...	ORPHA:634
H Syndrome	Facial telangiectasia, Psoriasiform dermatitis, Hypertrichosis, Bronchiectasis, Lymphadenopathy, ...	ORPHA:168569
Hyperkeratosis Lenticularis Perstans	Papule, Skin ulcer, Aplasia/Hypoplasia of the skin	ORPHA:409
Proteasome-Associated Autoinflammatory Syndrome 2	Lymphadenopathy, Recurrent infections, Increased circulating antibody level, Skin rash, Thrombocy...	OMIM:618048
Immunodeficiency, Common Variable, 10	Psoriasiform dermatitis, Recurrent otitis media, Alopecia totalis, Recurrent pneumonia, Recurrent...	OMIM:615577
Absence Of Fingerprints-Congenital Milia Syndrome	Thickened skin, Skin rash, Thin skin	ORPHA:1658
Immunodeficiency 49	Inflammatory abnormality of the skin, Hirsutism, Cutis laxa, Lymphopenia, Eosinophilia	OMIM:617237
Oral Erosive Lichen	Cheilitis, Dry skin, Erythema	ORPHA:31142
Marie Unna Hereditary Hypotrichosis	Alopecia, Coarse hair, Sparse or absent eyelashes, Sparse scalp hair, Aplasia/Hypoplasia of the e...	ORPHA:444
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Eczema, Lymphadenopathy, Decreased circulating antibody level, Splenomegaly, Hepatosplenomegaly, ...	OMIM:615688
Prolidase Deficiency	Hepatomegaly, Hirsutism, Cutaneous photosensitivity, Low anterior hairline, Pruritus, Palmoplanta...	ORPHA:742
Hidrotic Ectodermal Dysplasia	Fine hair, Slow-growing nails, Sparse eyelashes, Small nail, Absent pubic hair, Nail dystrophy, A...	ORPHA:189
Zika Virus Disease	Infectious encephalitis, Lens subluxation, Pruritus, Arthritis, Iris coloboma, Subcutaneous hemor...	ORPHA:448237
Sea-Blue Histiocyte Disease	Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly	OMIM:269600
Sydenham Chorea	Erythema, Septic arthritis, Endocarditis	ORPHA:306731
Myeloproliferative Disorder, Chronic, With Eosinophilia	Myeloproliferative disorder, Eosinophilia	OMIM:131440
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy	Monoclonal immunoglobulin M proteinemia, Increased circulating beta-2-microglobulin level, Cryogl...	ORPHA:209004
Heme Oxygenase 1 Deficiency	Thrombocytosis, Hepatomegaly, Increased circulating interleukin 6, Elevated circulating C-reactiv...	OMIM:614034
Immunodeficiency 37	Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-...	OMIM:616098
Immunodeficiency, Common Variable, 4	Recurrent bacterial infections, Decreased circulating IgG level, Recurrent pneumonia, Decreased c...	OMIM:613494
Chédiak-Higashi Syndrome	Neutropenia, Abnormal platelet function, Lymphadenopathy, Recurrent infections, Splenomegaly, Per...	ORPHA:167
Sickle Cell Anemia	Abnormality of the spleen, Leukocytosis, Thrombocytosis, Increased mean corpuscular volume, Iron ...	ORPHA:232
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Woolly hair, Patchy alopecia, Trichodysplasia	ORPHA:1410
3-Methylglutaconic Aciduria, Type Vii	Neutropenia	OMIM:616271
Fanconi Anemia, Complementation Group G	Leukemia, Thrombocytopenia, Neutropenia, Anemia	OMIM:614082
Lymphoproliferative Syndrome 1	Hepatomegaly, Leukopenia, Stomatitis, Lymphadenopathy, Decreased circulating IgG level, Decreased...	OMIM:613011
Bullous Dystrophy, Hereditary Macular Type	Acrocyanosis, Alopecia totalis, Abnormality of the nail	OMIM:302000
Wells Syndrome	Pruritus, Eosinophilia, Skin vesicle	ORPHA:901
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome	Pustule, Myositis, Acne, Arthritis, Increased inflammatory response, Crohn's disease, Increased c...	ORPHA:69126
Combined Immunodeficiency With Faciooculoskeletal Anomalies	B lymphocytopenia, Psoriasiform dermatitis, Decreased circulating total IgA, Decreased specific a...	ORPHA:221139
Systemic Mastocytosis With Associated Hematologic Neoplasm	Leukocytosis, Chronic lymphatic leukemia, Hepatomegaly, Normocytic anemia, Lymphadenopathy, Pruri...	ORPHA:98849
Halothane Hepatitis	Viral hepatitis, Eosinophilia, Hepatitis, Jaundice	OMIM:234350
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy

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