Not currently registered for phenotyping at IMPC

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

Gene Summary

integrin beta 2
Cd18,  Mac-1 beta,  2E6

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


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.

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

Disease Similarity of
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 Similarity of
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
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
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
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
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
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 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
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
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