Gene: Rag1 MGI:97848

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

recombination activating 1

Synonyms:

Rag-1

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 Rag1 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 Rag1 (6 diseases)
Human diseases predicted to be associated with Rag1 (1056 diseases)

The table below shows human diseases associated to Rag1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia	OMIM:233650
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	T lymphocytopenia, B lymphocytopenia, Panhypogammaglobulinemia	OMIM:601457
Omenn Syndrome	Severe B lymphocytopenia, Lymphadenopathy, Thrombocytopenia, Hypoplasia of the thymus, B lymphocy...	OMIM:603554
Combined Immunodeficiency Due To Partial Rag1 Deficiency	T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod...	ORPHA:231154
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Autoimmune hemolytic anemia, Lymphadenitis, Decreased proportion of CD3-positive T cells, Lymphop...	ORPHA:331206
Omenn Syndrome	Pruritus, Leukocytosis, Thyroiditis, Abnormal lymphocyte morphology, Erythroderma, Pneumonia, Ane...	ORPHA:39041

The table below shows human diseases predicted to be associated to Rag1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Immunodeficiency 40	Lymphopenia	OMIM:616433
Lymphoid System Deterioration, Progressive	Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I...	OMIM:247630
Okt4 Epitope Deficiency	Abnormal T cell morphology	OMIM:613949
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, B lymphocytopenia, Decreased circulating to...	OMIM:618987
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia	OMIM:233650
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Hypoplasia of the thymus, Lymphopenia, Agammaglobulinemia	OMIM:200900
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ...	OMIM:616452
Immunodeficiency 24	Partial absence of specific antibody response to tetanus vaccine, Defective T cell proliferation,...	OMIM:615897
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia, Decreased circulating IgG level	OMIM:242870
Agammaglobulinemia 8, Autosomal Dominant	B lymphocytopenia, Agammaglobulinemia	OMIM:616941
Immunodeficiency 79	Decreased proportion of CD4-positive T cells	OMIM:619238
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Decreased circulating total IgM, Splenomegaly	OMIM:606445
Immunodeficiency 15A	Decreased proportion of CD4-positive helper T cells, Cutaneous abscess, Decreased proportion of C...	OMIM:618204
Lymphoma, Hodgkin, Classic	Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM	OMIM:236000
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Lymphopenia, Defective T cell proliferation	OMIM:615615
Cernunnos-Xlf Deficiency	T lymphocytopenia, Decreased circulating antibody level, Lymphopenia, Thrombocytopenia, B lymphoc...	ORPHA:169079
Reticular Dysgenesis	Congenital agranulocytosis, Lymphopenia, Lack of T cell function, Hypoplasia of the thymus, Impai...	OMIM:267500
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Immunodeficiency, Common Variable, 3	Decreased proportion of class-switched memory B cells, Chronic decreased circulating total IgG, R...	OMIM:613493
Transcobalamin Deficiency	Decreased circulating antibody level, Lymphopenia, Neutropenia, Thrombocytopenia, Pancytopenia, D...	ORPHA:859
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly, Reduced natural killer cell activity	OMIM:608898
Wiskott-Aldrich Syndrome 2	Thrombocytopenia, Defective T cell proliferation, Decreased proportion of CD8-positive T cells, R...	OMIM:614493
Combined Immunodeficiency, X-Linked	Decreased proportion of CD4-positive helper T cells, Decreased circulating IgG level, Decreased p...	OMIM:312863
Immunodeficiency 76	T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly, Lymphadenopathy	OMIM:619164
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Neutropenia	OMIM:610798
Immunodeficiency, Common Variable, 14	Defective B cell differentiation, Decreased proportion of class-switched memory B cells, Decrease...	OMIM:617765
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytohemagglutin...	OMIM:153600
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Decreased circulating IgG level	OMIM:242880
Caspase 8 Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:607271
Immunodeficiency 8	Lymphopenia	OMIM:615401
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absent tonsils, T lymphocytopenia, Increased circulating IgE level, Abnormality of humoral immuni...	ORPHA:277
Immunodeficiency 50	Decreased circulating antibody level, Lymphopenia, Neutropenia	OMIM:300988
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive	Decreased proportion of class-switched memory B cells, Cutaneous abscess, Increased circulating I...	OMIM:618944
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Severe Combined Immunodeficiency, X-Linked	T lymphocytopenia, Decreased circulating IgE, Impaired lymphocyte transformation with phytohemagg...	OMIM:300400
Immunodeficiency, Common Variable, 13	Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, B lymphocytopenia	OMIM:616873
Immunodeficiency, Common Variable, 4	Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ...	OMIM:613494
Immunodeficiency, Common Variable, 1	Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ...	OMIM:607594
Immunodeficiency 14A, Autosomal Dominant	Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased circulating I...	OMIM:615513
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Hypopigmentation of hair, Neutropenia, Partial albinism, Recurrent bronchopulmonary infections	ORPHA:90023
Immunoglobulin M, Level Of	Decreased circulating total IgM	OMIM:308250
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	T lymphocytopenia, B lymphocytopenia, Panhypogammaglobulinemia	OMIM:601457
Agammaglobulinemia 7, Autosomal Recessive	Agammaglobulinemia, Neutropenia	OMIM:615214
Retinal Telangiectasia And Hypogammaglobulinemia	Decreased circulating IgG level, Reduced delayed hypersensitivity	OMIM:267900
Immunodeficiency With Hyper-Igm, Type 3	Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, Ne...	OMIM:606843
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Absent tonsils, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positiv...	OMIM:611926
Immunodeficiency 17	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells	OMIM:615607
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Cutaneous anergy, Decreased helper T cell proportion, Pancytopenia, Hypersplenism, Splenomegaly	OMIM:183350
Immunodeficiency 70	Decreased circulating antibody level, Decreased proportion of CD4-positive helper T cells, Decrea...	OMIM:618969
Immunodeficiency 42	Hypoplasia of the thymus	OMIM:616622
Familial Reactive Perforating Collagenosis	Pruritus, Hyperkeratotic papule, Perifolliculitis, Abnormality of the pinna, Maculopapular exanth...	ORPHA:79147
Immunodeficiency 14B, Autosomal Recessive	Monocytosis, Thrombocytosis, Leukocytosis, Decreased circulating total IgM, B lymphocytopenia, De...	OMIM:619281
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Increased circulating IgM level, Increased circulating IgE level, Decreased proportion of CD8-pos...	OMIM:617241
Immunodeficiency 72 With Autoinflammation	Increased circulating IgE level, Increased circulating IgG level, Increased B cell count, Increas...	OMIM:618982
Immunodeficiency 13	T lymphocytopenia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD...	OMIM:615518
Immunodeficiency 11	Decreased circulating antibody level	OMIM:615206
Immunodeficiency 57 With Autoinflammation	Partial absence of specific antibody response to tetanus vaccine, T lymphocytopenia, Decreased ci...	OMIM:618108
Omenn Syndrome	Severe B lymphocytopenia, Lymphadenopathy, Thrombocytopenia, Hypoplasia of the thymus, B lymphocy...	OMIM:603554
Lymphoproliferative Syndrome 3	Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ...	OMIM:618261
Pulmonary Nodular Lymphoid Hyperplasia	Follicular hyperplasia, Mediastinal lymphadenopathy, Plasmacytosis	ORPHA:60026
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Decreased circulating antibody level, Agammaglobulinemia	OMIM:616911
Immunodeficiency 81	Decreased proportion of class-switched memory B cells, Autoimmune hemolytic anemia, Reduced natur...	OMIM:619374
Combined Immunodeficiency Due To Partial Rag1 Deficiency	T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod...	ORPHA:231154
Lymphoproliferative Syndrome, X-Linked, 1	Lymphocytosis, Hemophagocytosis, Increased circulating IgM level, Decreased circulating antibody ...	OMIM:308240
Immunodeficiency 64	Abnormal CD4:CD8 ratio, Increased circulating IgM level, Increased proportion autoreactive unresp...	OMIM:618534
Histiocytosis, Familial Lipochrome	Histiocytosis, Increased circulating antibody level	OMIM:235900
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Abnormal natural killer cell physiology, Decreased circulating antibody level, ...	OMIM:613101
Krt1-Related Diffuse Nonepidermolytic Keratoderma	Atopic dermatitis, Nonepidermolytic palmoplantar hyperkeratosis, Palmoplantar scaling skin, Scali...	ORPHA:530838
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Severe B lymphocytopenia, Aplasia of the thymus, Increased circulating IgE level, Autoimmune thro...	OMIM:102700
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Lymphocytosis, T lymphocytopenia, Increased circulating IgE level, Decreased proportion of CD8-po...	ORPHA:169154
Psoriasis 2	Hyperkeratosis, Scaling skin, Epidermal acanthosis, Parakeratosis, Psoriasiform dermatitis	OMIM:602723
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomega...	OMIM:150550
Immunodeficiency 25	T lymphocytopenia, Increased circulating IgM level, Increased circulating IgE level, Autoimmune h...	OMIM:610163
Immunodeficiency 60	Decreased proportion of memory B cells, Decreased circulating IgE, Decreased basophil count, Panc...	OMIM:618394
Ichthyosis, Congenital, Autosomal Recessive 14	Orthokeratotic hyperkeratosis, Pruritus, Hyperkeratosis, Scaling skin, Erythema	OMIM:617571
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Autoimmune hemolytic anemia, Lymphadenitis, Decreased proportion of CD3-positive T cells, Lymphop...	ORPHA:331206
Combined Immunodeficiency Due To Dock8 Deficiency	T lymphocytopenia, B lymphocytopenia, Increased circulating IgE level	ORPHA:217390
Epidermolytic Hyperkeratosis	Erythroderma, Scaling skin, Epidermal acanthosis, Palmoplantar hyperkeratosis	OMIM:113800
Immunodeficiency 68	T lymphocytopenia, Lymphadenitis, Abnormal natural killer cell count, B lymphocytopenia, Abscess	OMIM:612260
Cd8 Deficiency, Familial	Absence of CD8-positive T cells	OMIM:608957
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, T l...	OMIM:618986
Agammaglobulinemia 1, Autosomal Recessive	Decreased circulating antibody level, B lymphocytopenia, Neutropenia, Agammaglobulinemia	OMIM:601495
Immunodeficiency 20	Reduced natural killer cell count, Reduced natural killer cell activity	OMIM:615707
Immunodeficiency 75	Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia...	OMIM:619126
Autoimmune Lymphoproliferative Syndrome, Type Iii	Decreased proportion of class-switched memory B cells, Increased proportion autoreactive unrespon...	OMIM:615559
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis	OMIM:247800
Specific Granule Deficiency 2	Absent neutrophil specific granules, Recurrent otitis media, Hirsutism, Neutropenia, Thrombocytop...	OMIM:617475
Immunoglobulin A Deficiency 2	Abnormal lymphocyte morphology, Decreased circulating IgA level	OMIM:609529
Agammaglobulinemia 5, Autosomal Dominant	Agammaglobulinemia	OMIM:613506
Agammaglobulinemia 3, Autosomal Recessive	Recurrent bronchitis, Recurrent otitis media, Neutropenia, Diarrhea, Recurrent bacterial infectio...	OMIM:613501
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	T lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618806
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent otitis media, Recurrent respiratory infections, Neutropenia, Recurrent bacterial infect...	OMIM:616022
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Candidiasis, Familial, 2	Deep dermatophytosis, Hypereosinophilia, Increased circulating IgE level, Chronic oral candidiasis	OMIM:212050
Immunodeficiency 54	Chromosome breakage, Adrenocorticotropic hormone excess, Reduced natural killer cell count, Adren...	OMIM:609981
Iga Pemphigus	Pustule, Pruritus, Cutaneous abscess, Neutrophilic infiltration of the skin, Acantholysis, Ulcera...	ORPHA:555905
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ...	OMIM:619313
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Erythroderma, Decreased proportion of CD3-positive T cells, Lymphopenia...	ORPHA:169160
Immunodeficiency 19	Lymphopenia	OMIM:615617
Hepatic Venoocclusive Disease With Immunodeficiency	Absence of lymph node germinal center, Abnormality of the liver, Decreased circulating IgG level	OMIM:235550
Immunodeficiency 52	Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Decreased circulating antibody lev...	OMIM:617514
Immunodeficiency 11B With Atopic Dermatitis	Atopic dermatitis, Pneumonia, Eosinophilia	OMIM:617638
Reticuloendotheliosis, X-Linked	Jaundice, Hepatosplenomegaly, Anemia, Lymphadenopathy	OMIM:312500
Acne Inversa, Familial, 3	Chronic furunculosis, Acne inversa, Recurrent cutaneous abscess formation, Perifolliculitis	OMIM:613737
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Thyroiditis, Increased circulating IgA level, Uveitis, Punctate kera...	OMIM:617388
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive	T lymphocytopenia, Lymphadenopathy, Splenomegaly	OMIM:608971
Autoimmune Lymphoproliferative Syndrome, Type V	Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased circulating antibody level, L...	OMIM:616100
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Increased circulating antibody level, Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia...	OMIM:615285
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Increased circ...	OMIM:202700
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant	Skin rash, Increased circulating IgE level, Eczematoid dermatitis, Erythema, Chronic mucocutaneou...	OMIM:147060
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent staphylococcal infections, Recurrent streptococcus pneumoniae infections, Neutropenia, ...	ORPHA:70592
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive	Pruritus, Atopic dermatitis, Bronchiectasis, Recurrent otitis media, Chronic mucocutaneous candid...	OMIM:618282
Griscelli Syndrome, Type 2	Hemophagocytosis, Melanin pigment aggregation in hair shafts, Silver-gray hair, Accumulation of m...	OMIM:607624
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive	Atopic dermatitis, Subarachnoid hemorrhage, Cerebral vasculitis, Eczema, Eosinophilia	OMIM:243700
Ras-Associated Autoimmune Leukoproliferative Disorder	Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmunity, Neutrope...	OMIM:614470
Mu-Heavy Chain Disease	Increased circulating antibody level, Abnormal B cell count, Anemia, Splenomegaly, Lymphadenopathy	ORPHA:100024
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations	Recurrent fungal infections, Lymphopenia, Recurrent viral infections, Neutropenia, Recurrent bact...	OMIM:614868
Histiocytosis, Progressive Mucinous	Mucinous histiocytosis	OMIM:142630
Felty Syndrome	Irregular hyperpigmentation, Pleuritis, Pericarditis, Recurrent urinary tract infections, Neutrop...	ORPHA:47612
Agammaglobulinemia 4, Autosomal Recessive	Chronic sinusitis, Recurrent otitis media, Neutropenia, Diarrhea, Recurrent pneumonia, Recurrent ...	OMIM:613502
Neutropenia, Chronic Familial	Increased circulating antibody level, Neutropenia	OMIM:162700
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormality of neutrophils, Abnormal macrophage morphology	ORPHA:2690
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Respiratory tract infection, Systemic lupus erythematosus, Hemolytic anemia, Autoimmune thrombocy...	ORPHA:444463
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	T lymphocytopenia, Hemolytic anemia, Increased circulating IgE level, Decreased specific anti-pol...	OMIM:606367
Immunodeficiency 51	Folliculitis, Pustule, Cutaneous abscess, Chronic oral candidiasis, Recurrent otitis media, Recur...	OMIM:613953
Peeling Skin Syndrome 1	Pruritus, Scaling skin, Increased circulating IgE level, Erythema	OMIM:270300
Immunodeficiency 48	Hepatomegaly, Panhypogammaglobulinemia, Splenomegaly	OMIM:269840
Autoimmune Lymphoproliferative Syndrome, Type Iia	Increased circulating IgG level, Increased B cell count, Eosinophilia, Iron deficiency anemia, In...	OMIM:603909
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	T lymphocytopenia, Absent natural killer cells, Partial IgA deficiency, Lymphopenia, Impaired lym...	ORPHA:35078
Immunoglobulin Kappa Light Chain Deficiency	Abnormal immunoglobulin level	OMIM:614102
Fanconi Anemia, Complementation Group G	Abnormality of chromosome stability, Neutropenia, Thrombocytopenia, Anemia, Leukemia	OMIM:614082
Erythrokeratodermia Variabilis Et Progressiva 1	Erythroderma, Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Epidermal acanthosis	OMIM:133200
Autoimmune Lymphoproliferative Syndrome	Iron deficiency anemia, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ...	OMIM:601859
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Increased circulating IgM level, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutro...	OMIM:619220
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased circulating antibody level, Recurrent skin infections	OMIM:617744
Papular Xanthoma	Histiocytosis	ORPHA:158008
Generalized Eruptive Histiocytosis	Pruritus, Maculopapular exanthema, Histiocytosis, Hypereosinophilia, Leukemia	ORPHA:157991
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig...	OMIM:608106
Apolipoprotein A-I Deficiency	Lymphadenopathy, Abnormality of the liver, Anemia, Splenomegaly	ORPHA:425
Agammaglobulinemia 2, Autosomal Recessive	Agammaglobulinemia	OMIM:613500
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	ORPHA:2643
Chilblain Lupus	Skin rash, Hyperkeratosis, Increased circulating antibody level, Pruritis on hand, Discoid lupus ...	ORPHA:90280
Kimura Disease	Increased circulating IgE level, Abnormal salivary gland morphology, Follicular hyperplasia, Lymp...	ORPHA:482
Immunodeficiency 58	Psoriasiform lesion, Esophagitis, Seborrheic dermatitis, Cutaneous abscess, Allergic rhinitis, Br...	OMIM:618131
Immunodeficiency, Common Variable, 7	Reduced isohemagglutinin level, Decreased circulating total IgG, Decreased circulating IgA level,...	OMIM:614699
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased CD69 upregulation upon TCR activation, Autoimmune thrombocytopenia, Decreased specific ...	OMIM:300853
Fanconi Anemia, Complementation Group D1	Acute myeloid leukemia, Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking...	OMIM:605724
Immunodeficiency 37	Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-...	OMIM:616098
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp...	OMIM:617006
Alopecia Areata 1	Nail pits, Trachyonychia, Autoimmunity, Alopecia totalis, Alopecia universalis, Patchy alopecia	OMIM:104000
Immunodeficiency, Common Variable, 5	Chronic decreased circulating total IgG	OMIM:613495
Acral Peeling Skin Syndrome	Eczema, Excessive wrinkling of palmar skin, Scaling skin, Erythema	ORPHA:263534
X-Linked Agammaglobulinemia	Skin rash, Sepsis, Abnormal lung morphology, Autoimmunity, Chronic diarrhea, Chronic otitis media...	ORPHA:47
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Recurrent infections, Neutropenia	OMIM:617014
Immunodeficiency By Defective Expression Of Mhc Class Ii	Skin rash, Recurrent Staphylococcus aureus infections, Decreased proportion of CD4-positive helpe...	ORPHA:572
Immunodeficiency 47	Cirrhosis, Hepatic steatosis, Decreased circulating antibody level, Hepatomegaly, Prolonged neona...	OMIM:300972
Idiopathic Localized Lipodystrophy	Erythema, Pruritus, Scaling skin, Inflammatory abnormality of the skin	ORPHA:90158
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive	Increased circulating IgE level, Bronchiectasis, Recurrent otitis media, Keratitis, Eczema, Eosin...	OMIM:618523
X-Linked Lymphoproliferative Disease	Lymphocytosis, Pancytopenia, Histiocytosis, Increased B cell count, Cervical lymphadenopathy, Lym...	ORPHA:2442
Immunodeficiency 15B	Decreased circulating antibody level, Agammaglobulinemia	OMIM:615592
Immunodeficiency, Common Variable, 11	Decreased proportion of class-switched memory B cells, Decreased circulating IgG level, Increased...	OMIM:615767
Keratosis Palmoplantaris Striata Ii	Epidermal acanthosis, Palmoplantar keratoderma	OMIM:612908
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse	Epidermal acanthosis, Palmoplantar keratoderma	OMIM:615735
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Autoimmunity, Recurrent otitis media, Recurrent urinary tract infect...	OMIM:618495
Hypereosinophilic Syndrome, Idiopathic	Pruritus, Restrictive cardiomyopathy, Splenomegaly, Myeloproliferative disorder, Eosinophilia	OMIM:607685
Juvenile Temporal Arteritis	Leukocytosis, Conjunctivitis, Allergic rhinitis, Eosinophilia	ORPHA:26137
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Abnormality of skin pigmentation, Rod-cone dystrophy	OMIM:300719
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Psoriasiform lesion, Pustule, Pruritus, Superficial dermal perivascular inflammatory infiltrate, ...	ORPHA:284426
Cole Disease	Hyperkeratosis, Epidermal acanthosis, Palmoplantar keratoderma	OMIM:615522
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Ataxia-Pancytopenia Syndrome	Abnormal platelet function, Abnormality of neutrophils, Abnormal macrophage morphology, Acute mye...	ORPHA:2585
Acute Myelomonocytic Leukemia	Leukocytosis, Thrombocytopenia, Anemia, Pallor, Eosinophilia	ORPHA:517
Trimethylaminuria	Splenomegaly, Neutropenia, Anemia, Recurrent pneumonia	OMIM:602079
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	OMIM:251190
Thrombocytopenia, Cyclic	Thrombocytopenia, Neutropenia, Cyclic neutropenia	OMIM:188020
Ichthyosis, Congenital, Autosomal Recessive 7	Erythroderma, Epidermal acanthosis, Palmoplantar keratoderma	OMIM:615022
Aicardi-Goutieres Syndrome 5	Thrombocytopenia, Scaling skin, Chilblains, Dry skin	OMIM:612952
Fanconi Anemia, Complementation Group J	Chromosomal breakage induced by crosslinking agents, Bone marrow hypocellularity	OMIM:609054
Pgm3-Cdg	Cutaneous abscess, Bronchiectasis, Decreased proportion of CD4-positive helper T cells, Vasculiti...	ORPHA:443811
Immunodeficiency, Common Variable, 8, With Autoimmunity	Bronchiectasis, Thyroiditis, Decreased specific antibody response to vaccination, Pneumonia, Panc...	OMIM:614700
Immunodeficiency 55	Neutropenia, Diarrhea, Recurrent infections, Eczema, Recurrent skin infections, Lymphadenopathy	OMIM:617827
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Palmoplantar keratoderma, Hyperkeratosis, Angular cheilitis, Scaling skin, Epidermal acanthosis	OMIM:616295
Ataxia-Telangiectasia	Abnormality of chromosome stability, Abnormal testis morphology, Decreased circulating antibody l...	ORPHA:100
Benign Cephalic Histiocytosis	Histiocytosis, Skin rash, Inflammatory abnormality of the skin	ORPHA:157997
Epidermolysis Bullosa, Nonspecific, Autosomal Recessive	Hyperkeratosis, Epidermal acanthosis	OMIM:615028
Tietz Syndrome	Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th...	ORPHA:42665
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Griscelli Syndrome, Type 1	Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum...	OMIM:214450
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphocytosis, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Autoimm...	ORPHA:911
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Severe B lymphocytopenia, Decreased circulating ACTH level, Adrenocorticotropin deficient adrenal...	ORPHA:293978
Neutropenia, Severe Congenital, X-Linked	Neutropenia, Recurrent bacterial infections	OMIM:300299
Rosaï-Dorfman Disease	Dysgammaglobulinemia, Anemia, Lymphadenopathy	ORPHA:158014
Palmoplantar Keratoderma, Nagashima Type	Orthokeratotic hyperkeratosis, Epidermal acanthosis	OMIM:615598
Peeling Skin Syndrome 5	Hyperkeratosis, Epidermal acanthosis	OMIM:617115
Griscelli Syndrome Type 2	Hemophagocytosis, Iris hypopigmentation, Hypopigmentation of hair, Premature graying of hair, Neu...	ORPHA:79477
Chronic Actinic Dermatitis	Pruritus, Allergic rhinitis, Erythroderma, Epidermal acanthosis, Eczema, Late onset atopic dermat...	ORPHA:330064
N Syndrome	Cryptorchidism, Leukemia, Abnormality of chromosome stability	OMIM:310465
Albinism, Oculocutaneous, Type Iii	Albinism, Partial albinism, Red hair	OMIM:203290
Acrokeratosis Verruciformis	Hyperkeratosis, Epidermal acanthosis	OMIM:101900
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Reduced natural killer cell count, Thrombocytopenia, Anemia, Splenomegaly, Reduced ...	OMIM:616050
Ichthyosis, Congenital, Autosomal Recessive 6	Palmoplantar keratoderma, Hyperkeratosis, Erythroderma, Epidermal acanthosis, Parakeratosis	OMIM:612281
Netherton Syndrome	Allergic rhinitis, Increased circulating IgE level, Erythroderma, Hypereosinophilia, Parakeratosi...	OMIM:256500
Ichthyosis, Congenital, Autosomal Recessive 5	Parakeratosis, Palmoplantar keratoderma, Erythroderma, Epidermal acanthosis, Acanthocytosis, Orth...	OMIM:604777
Immunodeficiency 23	Allergic rhinitis, Hemolytic anemia, Increased circulating IgM level, Bronchiectasis, Increased c...	OMIM:615816
Immunodeficiency With Hyper-Igm, Type 2	Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig...	OMIM:605258
Verrucous Hemangioma	Hyperkeratotic papule, Epidermal acanthosis, Inflammatory abnormality of the skin	ORPHA:464318
Neuroectodermal Melanolysosomal Disease	Hypopigmentation of hair, Premature graying of hair, Abnormality of the optic nerve, Hypopigmenta...	ORPHA:33445
Dilution, Pigmentary	Hypopigmentation of the fundus, Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation...	OMIM:126070
Autosomal Dominant Severe Congenital Neutropenia	Neutropenia, Pneumonia, Diarrhea, Eosinophilia, Antineutrophil antibody positivity, Acute lymphob...	ORPHA:486
Bazex Syndrome	Pruritus, Palmoplantar keratoderma, Hyperkeratosis, Scaling skin, Anemia, Parakeratosis	ORPHA:166113
Ataxia-Telangiectasia	Defective B cell differentiation, T lymphocytopenia, Decreased proportion of CD4-positive helper ...	OMIM:208900
Immunodeficiency 27A	Thrombocytosis, Increased circulating IgM level, Leukocytosis, Histiocytosis, Increased circulati...	OMIM:209950
Thymoma	Hemolytic anemia, Decreased circulating antibody level, Abnormal lymphocyte morphology, Thyroidit...	ORPHA:99867
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity	Pancytopenia, Abnormality of chromosome stability	OMIM:600546
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Transcobalamin Ii Deficiency	Neutropenia, Reticulocytopenia, Pancytopenia, Decreased circulating IgA level, Decreased circulat...	OMIM:275350
Hyperimmunoglobulin G1(A1) Syndrome	Increased circulating IgG level, Increased circulating IgA level	OMIM:144120
T-Cell Receptor-Alpha/Beta Deficiency	Hypereosinophilia, Lymphadenopathy	OMIM:615387
Asplenia, Isolated Congenital	Thrombocytosis, Howell-Jolly bodies, Asplenia	OMIM:271400
Panniculitis-Induced Localized Lipodystrophy	Erythema, Vasculitis in the skin, Abnormal immunoglobulin level, Inflammatory abnormality of the ...	ORPHA:90159
Albinism, Oculocutaneous, Type Ib	Hypopigmentation of the fundus, Hypopigmentation of hair, Albinism, Hypopigmentation of the skin	OMIM:606952
Fanconi Anemia, Complementation Group Q	Bone marrow hypocellularity, Chromosome breakage	OMIM:615272
Immunodeficiency 46	Intermittent thrombocytopenia, Chronic oral candidiasis, Chronic diarrhea, Neutropenia, Recurrent...	OMIM:616740
Alpha-Heavy Chain Disease	Hepatomegaly, Dysgammaglobulinemia, Anemia, Splenomegaly, Premature ovarian insufficiency, Lympha...	ORPHA:100025
Congenital Disorder Of Glycosylation, Type If	Hyperkeratosis, Erythroderma, Scaling skin, Dry skin	OMIM:609180
Amyloidosis, Primary Localized Cutaneous, 1	Pruritus, Cutis laxa, Scaling skin, Dry skin	OMIM:105250
Bathing Suit Ichthyosis	Erythroderma, Scaling skin, Epidermal acanthosis, Parakeratosis, Palmoplantar hyperkeratosis	ORPHA:100976
Wells Syndrome	Pruritus, Skin vesicle, Eosinophilia	ORPHA:901
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia	OMIM:618310
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Coombs-positive hemolytic anemia, Increased circulating IgE level, Autoimmune thrombocytopenia, E...	OMIM:304790
Cyclic Neutropenia	Neutropenia, Cyclic neutropenia	OMIM:162800
Mantle Cell Lymphoma	Lymphadenopathy, Splenomegaly	ORPHA:52416
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia, Arthritis	ORPHA:2582
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Cutaneous anergy, T lymphocytopenia, Absent peripheral lymph nodes in presence of infection, Abse...	OMIM:600802
Inflammatory Skin And Bowel Disease, Neonatal, 1	Pustule, Perioral erythema, Increased circulating IgE level, Erythroderma, Perianal erythema, Ble...	OMIM:614328
Immune Deficiency Disease	Decreased circulating total IgM	OMIM:242850
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, Decreased circulating antibody level, Sideroblastic anemia, B lymp...	OMIM:616084
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Lymphopenia, Abnormal T cell morphology, Hepatosplenomegaly, Reduced delay...	OMIM:242700
Halothane Hepatitis	Viral hepatitis, Hepatitis, Eosinophilia	OMIM:234350
Lymphangiectasia, Intestinal	Intestinal lymphangiectasia, Lymphopenia, Decreased circulating IgG level	OMIM:152800
Roifman Syndrome	Noncompaction cardiomyopathy, Decreased circulating antibody level, Recurrent otitis media, Recur...	ORPHA:353298
Macrocephaly/Autism Syndrome	Hepatomegaly, Decreased circulating antibody level, Lymphopenia, Splenomegaly	OMIM:605309
Wiskott-Aldrich Syndrome	Decreased specific anti-polysaccharide antibody level, Decreased proportion of CD4-positive helpe...	OMIM:301000
Pityriasis Rubra Pilaris	Pustule, Pruritus, Palmoplantar keratoderma, Erythroderma, Subungual hyperkeratosis, Eczema	ORPHA:2897
Immunodeficiency With Hyper-Igm, Type 1	Impaired memory B cell generation, Cirrhosis, Increased circulating IgM level, Hemolytic anemia, ...	OMIM:308230
Wiskott-Aldrich Syndrome, Autosomal Dominant	Iron deficiency anemia, Inflammation of the large intestine, Decreased mean platelet volume, Hemo...	OMIM:600903
Chediak-Higashi Syndrome	Recurrent systemic pyogenic infections, Giant melanosomes in melanocytes, Recurrent bacterial ski...	OMIM:214500
Peeling Skin Syndrome 4	Palmoplantar keratoderma, Hyperkeratosis, Scaling skin, Epidermal acanthosis, Orthokeratosis	OMIM:607936
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Interstitial pneumonitis, Ulcerative colitis, Erythema, Decreased circulating IgA level, Decrease...	OMIM:614878
Lymphoproliferative Syndrome, X-Linked, 2	Inflammation of the large intestine, Hemophagocytosis, Folliculitis, Acne, Decreased circulating ...	OMIM:300635
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Generalized hyperkeratosis, Cutis laxa, Scaling skin, Epidermal acanthosis, Dry skin	ORPHA:2269
Eosinophilia, Familial	Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia	OMIM:131400
Whim Syndrome 1	Decreased circulating antibody level, Decreased circulating IgG level, Neutropenia	OMIM:193670
Elastosis Perforans Serpiginosa	Crusting erythematous dermatitis, Hyperkeratotic papule, Epidermal acanthosis, Cutis laxa	ORPHA:79148
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Absent tonsils, Decreased proportion of CD3-positive T cells, Decreased proportion of CD4-positiv...	ORPHA:276
Immunodeficiency 21	Myeloid leukemia, Monocytopenia, Recurrent fungal infections, Abnormal natural killer cell morpho...	OMIM:614172
Spastic Ataxia-Corneal Dystrophy Syndrome	Decreased circulating antibody level	ORPHA:2572
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Abnormal proportion of CD4-positive T cells, Abnormal serum interleukin level, Dec...	ORPHA:3261
Immunodeficiency, Common Variable, 12, With Autoimmunity	Bronchiectasis, Autoimmune hemolytic anemia, Decreased circulating antibody level, Recurrent sinu...	OMIM:616576
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Acantholysis, Palmoplantar keratoderma, Erythroderma, Pulmonic stenosis, Recurrent skin infection...	OMIM:615508
Albinism, Oculocutaneous, Type Iv	Hypopigmentation of hair, Albinism, Macular hypoplasia, Hypopigmentation of the fundus, Blue irides	OMIM:606574
Cyclic Neutropenia	Peritonitis, Respiratory tract infection, Recurrent tonsillitis, Decreased eosinophil count, Toot...	ORPHA:2686
Sea-Blue Histiocyte Disease	Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly	OMIM:269600
Schnitzler Syndrome	Increased circulating IgM level, Leukocytosis, Hepatomegaly, Anemia, Splenomegaly, Lymphadenopathy	ORPHA:37748
Cinca Syndrome	Progressive sensorineural hearing impairment, Skin rash, Leukocytosis, Uveitis, Hearing impairmen...	OMIM:607115
Kerion Celsi	Recurrent cutaneous abscess formation, Lymphadenopathy	ORPHA:499
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death	Abnormality of chromosome stability, Decreased circulating IgA level, Leukemia, Abnormality of th...	OMIM:208910
Familial Hemophagocytic Lymphohistiocytosis	Hemophagocytosis, Skin rash, Increased serum interferon-gamma level, Purpura, Erythroderma, Decre...	ORPHA:540
Bullous Diffuse Cutaneous Mastocytosis	Erythroderma, Pruritus, Cutaneous mastocytosis	ORPHA:280785
Drug Rash With Eosinophilia And Systemic Symptoms	Lymphocytosis, Skin rash, Pustule, Interstitial pneumonitis, Thyroiditis, Erythroderma, Erythema,...	ORPHA:139402
Bone Marrow Failure Syndrome 5	Decreased circulating antibody level, Pure red cell aplasia, Anemia	OMIM:618165
Sézary Syndrome	Pruritus, Palmoplantar keratoderma, Erythroderma, Abnormal lymphocyte morphology, Splenomegaly, A...	ORPHA:3162
Erythema Elevatum Diutinum	Skin rash, Vasculitis in the skin, Skin vesicle, Increased circulating antibody level	ORPHA:90000
Immunodeficiency, Common Variable, 10	Recurrent otitis media, Recurrent sinusitis, Decreased circulating IgG level, Decreased circulati...	OMIM:615577
Glutathione Synthetase Deficiency	Hemolytic anemia, Neutropenia, Pigmentary retinopathy	OMIM:266130
Erythrokeratodermia Variabilis Et Progressiva 4	Hyperkeratosis, Erythema, Epidermal acanthosis, Palmoplantar hyperkeratosis	OMIM:617526
Congenital Disorder Of Glycosylation, Type I/Iix	Abnormality of skin pigmentation	OMIM:212067
Autosomal Dominant Epidermolytic Ichthyosis	Hyperkeratosis, Erythroderma, Skin ulcer, Palmoplantar keratoderma	ORPHA:312
Ichthyosis Vulgaris	Eczematoid dermatitis, Absent keratohyalin granules, Dry skin	OMIM:146700
Hermansky-Pudlak Syndrome 3	Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal number of dense granules	OMIM:614072
Icf Syndrome	Abnormality of chromosome stability, Abnormality of neutrophils, Decreased circulating antibody l...	ORPHA:2268
Bloom Syndrome	Cryptorchidism, Abnormality of chromosome stability, Decreased circulating IgA level, Type II dia...	OMIM:210900
Peeling Skin Syndrome 2	Scaling skin, Erythema	OMIM:609796
Loose Anagen Hair Syndrome	Loose anagen hair, Sparse hair, Fair hair	OMIM:600628
Myeloproliferative Disorder, Chronic, With Eosinophilia	Myeloproliferative disorder, Eosinophilia	OMIM:131440
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy	ORPHA:66661
Autosomal Dominant Hyper-Ige Syndrome	Skin rash, Pruritus, Increased circulating IgE level, Chronic otitis media, Skin ulcer, Eczema, S...	ORPHA:2314
Neutropenia, Lethal Congenital, With Eosinophilia	Neutropenia, Eosinophilia	OMIM:257100
Reticular Dysgenesis	Abnormality of neutrophils, Decreased circulating antibody level, Aplasia/Hypoplasia of the thymu...	ORPHA:33355
Lymphoproliferative Syndrome 2	Hemophagocytosis, Decreased circulating antibody level, Pancytopenia, Hepatomegaly, Decreased lym...	OMIM:615122
Adult Idiopathic Neutropenia	Monocytosis, Monocytopenia, Recurrent fungal infections, Helicobacter pylori infection, Lymphopen...	ORPHA:2688
Centrifugal Lipodystrophy	Lymphadenitis, Scaling skin, Erythema, Inflammatory abnormality of the skin	ORPHA:90156
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Decreased circulating antibody level, Lymphopenia	ORPHA:1116
Basan Syndrome	Hyperkeratosis, Epidermal acanthosis	OMIM:129200
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Skin rash, Neutropenia, Thrombocytopenia, Conjunctivitis, Anemia, Splenomegaly,...	OMIM:603552
Ichthyosis With Confetti	Hyperkeratosis, Erythroderma, Palmoplantar hyperkeratosis	OMIM:609165
Hereditary Folate Malabsorption	Megaloblastic anemia, Decreased circulating antibody level, Cheilitis, Pancytopenia, Thrombocytop...	ORPHA:90045
Progressive Multifocal Leukoencephalopathy	Abnormal proportion of CD4-positive T cells, Decreased proportion of CD8-positive T cells	ORPHA:217260
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Recurrent opportunistic infections, Skin rash, Vitiligo, Recurrent upper and lower respiratory tr...	ORPHA:275
Bone Marrow Failure Syndrome 4	Decreased circulating antibody level, Thrombocytopenia, Anemia, Leukopenia, Eczema, Bone marrow h...	OMIM:618116
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag	Monoclonal immunoglobulin M proteinemia	ORPHA:639
Immunodeficiency 36	Decreased circulating antibody level, Lymphopenia, Chronic lymphatic leukemia, Splenomegaly	OMIM:616005
Oculocutaneous Albinism, Type Viii	Hypopigmentation of hair, Chorioretinal hypopigmentation, Iris transillumination defect, Hypoplas...	OMIM:619165
Masp2 Deficiency	Systemic lupus erythematosus, Ulcerative colitis, Recurrent pneumonia	OMIM:613791
Bacterial Toxic-Shock Syndrome	Peritonitis, Skin rash, Scaling skin, Pneumonia, Sinusitis, Myocarditis, Shock, Myositis, Osteomy...	ORPHA:36234
Lymphoproliferative Syndrome 1	Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased circulating antibody level, D...	OMIM:613011
Selective Igm Deficiency	Cutaneous abscess, Bronchiectasis, Decreased specific antibody response to vaccination, Chronic s...	ORPHA:331235
Hermansky-Pudlak Syndrome 2	Albinism, Neutropenia, Recurrent abscess formation, Generalized hypopigmentation, Chronic oral ca...	OMIM:608233
Rat-Bite Fever	Skin rash, Parotitis, Pustule, Endocarditis, Pericarditis, Morbilliform rash, Lymphadenitis, Scal...	ORPHA:31205
Complement Component C1R/C1S Deficiency	Recurrent bronchitis, Autoimmunity, Discoid lupus rash, Nephritis, Arthritis	OMIM:216950
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Erythroid hypoplasia, Monocytosis, Cryptorchidism, Lymphopenia, Neutropenia, Hypoplasia of the th...	OMIM:612541
Fusariosis	Pulmonary opacity, Peritonitis, Bronchiectasis, Pneumonia, Neutropenia, Maculopapular exanthema, ...	ORPHA:228119
Immunodeficiency, Common Variable, 2	Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Follicular hy...	OMIM:240500
Diffuse Cutaneous Mastocytosis	Pruritus, Gastrointestinal hemorrhage, Hypotension, Erythroderma, Leukemia, Cutaneous mastocytosis	ORPHA:79456
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Interstitial pneumonitis, Anti-liver cytosolic antigen type 1 antibody positivity, Eczematoid der...	ORPHA:37042
Fanconi Anemia, Complementation Group S	Chromosome breakage, Ovarian neoplasm, Anemia	OMIM:617883
Erythrokeratodermia Variabilis Et Progressiva 3	Hyperkeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Erythema	OMIM:617525
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Thrombocytosis, Megaloblastic anemia, Decreased circulating antibody level, Lymphopenia, Pancytop...	OMIM:617780
Rare Cutaneous Lupus Erythematosus	Psoriasiform lesion, Pustule, Nail bed telangiectasia, Neutrophilic infiltration of the skin, Pan...	ORPHA:535
Congenital Disorder Of Glycosylation, Type Iir	Micronodular cirrhosis, Hepatic steatosis, Decreased circulating antibody level, Hepatomegaly, Ja...	OMIM:301045
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Short eyelashes, Curly hair, Chronic irritative conjunctivitis, Chronic neutropeni...	OMIM:258360
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Autoimmu...	OMIM:619375
Isolated Agammaglobulinemia	Skin rash, Sepsis, Autoimmunity, Abnormality of neutrophils, Abnormal lymphocyte morphology, Pneu...	ORPHA:229717
Omenn Syndrome	Pruritus, Leukocytosis, Thyroiditis, Abnormal lymphocyte morphology, Erythroderma, Pneumonia, Ane...	ORPHA:39041
Immunodeficiency 61	Recurrent otitis media, Recurrent sinusitis, Agammaglobulinemia, Arthritis	OMIM:300310
Nevoid Hypermelanosis, Linear And Whorled	Eosinophilia	OMIM:614323
Fanconi Anemia, Complementation Group L	Abnormality of chromosome stability, Chromosome breakage, Bone marrow hypocellularity, Anemia	OMIM:614083
Immunodeficiency 49	Cutis laxa, Lymphopenia, Posteriorly rotated ears, Eosinophilia, Inflammatory abnormality of the ...	OMIM:617237
Igg4-Related Aortitis	Increased circulating IgE level, Increased inflammatory response, Increased circulating antibody ...	ORPHA:449400
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Absent tonsils, Lymph node hypoplasia, Aplasia of the thymus, Panhypogammaglobulinemia	OMIM:602450
Ichthyosis-Prematurity Syndrome	Eosinophilia	ORPHA:88621
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy	OMIM:618852
Eosinophilic Fasciitis	Myositis, Fasciitis, Abnormal eosinophil morphology, Eosinophilia, Arthritis	ORPHA:3165
Bare Lymphocyte Syndrome, Type Ii	Recurrent fungal infections, Recurrent upper respiratory tract infections, Viral hepatitis, Recur...	OMIM:209920
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Generalized hyperpigmentation, Hypopigmentation of hair, Anteverted nares, Short nose	ORPHA:1355
C1Q Deficiency	Autoimmunity, Membranoproliferative glomerulonephritis, Systemic lupus erythematosus, Recurrent i...	OMIM:613652
Waardenburg-Shah Syndrome	Abnormality of retinal pigmentation, Abnormal macular morphology, Hypopigmentation of hair, White...	ORPHA:897
3-Methylglutaconic Aciduria, Type Vii	Recurrent infections, Neutropenia	OMIM:616271
Woolly Hair	Hypopigmentation of hair, Abnormal retinal morphology, Slow-growing hair, Sparse lateral eyebrow,...	ORPHA:170
Dowling-Degos Disease 4	Epidermal acanthosis	OMIM:615696
Eosinophilopenia	Decreased eosinophil count, Allergic rhinitis	OMIM:131430
Ichthyosis, Congenital, Autosomal Recessive 12	White scaling skin	OMIM:617320
Peeling Skin Syndrome 3	White scaling skin	OMIM:616265
Psoriasis 14, Pustular	Pustule, Leukocytosis, Erythema, Cholangitis, Oligoarthritis, Parakeratosis, Neutrophilia, Epider...	OMIM:614204
Combined Immunodeficiency With Faciooculoskeletal Anomalies	Decreased circulating total IgM, Decreased specific antibody response to vaccination, Decreased p...	ORPHA:221139
Graft Versus Host Disease	Acute hepatitis, Hemophagocytosis, Gastrointestinal inflammation, Inflammatory abnormality of the...	ORPHA:39812
Stormorken-Sjaastad-Langslet Syndrome	Asplenia, Anemia	ORPHA:3204
Tn Polyagglutination Syndrome	Autoimmunity, Abnormal erythrocyte morphology	OMIM:300622
Ichthyosis, Congenital, Autosomal Recessive 1	Erythroderma, Palmoplantar hyperkeratosis, Epidermal acanthosis, Parakeratosis	OMIM:242300
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Lymphopenia, Neutropenia, Reticulocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Leukope...	ORPHA:508542
Acquired Idiopathic Sideroblastic Anemia	Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment...	ORPHA:75564
Riddle Syndrome	Conjunctival telangiectasia, Recurrent pneumonia, Intraventricular hemorrhage, Recurrent sinusiti...	ORPHA:420741
Ichthyosis, Congenital, Autosomal Recessive 10	Erythroderma, Palmoplantar keratoderma	OMIM:615024
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Absence of lymph node germin...	OMIM:608184
Ichthyosis, Hystrix-Like, With Deafness	Palmoplantar keratoderma, Hyperkeratosis, Erythroderma, Punctate keratitis, Sensorineural hearing...	OMIM:602540
Ichthyosis, Congenital, Autosomal Recessive 9	Epidermal acanthosis	OMIM:615023
Albinism, Oculocutaneous, Type Ii	Freckles in sun-exposed areas, Albinism, Hypopigmentation of hair, Red hair, Hypopigmentation of ...	OMIM:203200
Pemphigus Vulgaris, Familial	Autoimmunity, Autoimmune antibody positivity	OMIM:169610
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Perifolliculitis, Follicular hyperkeratosis, Chronic furunculosis, Recurrent cutaneous abscess fo...	OMIM:613736
Hemochromatosis, Type 3	Lymphopenia, Neutropenia, Hyperpigmentation of the skin, Anemia, Arthritis	OMIM:604250
Burkitt Lymphoma	Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen, Abnormality of th...	ORPHA:543
Autoimmune Disease	Autoimmunity, Autoimmune antibody positivity	OMIM:109100
Autosomal Agammaglobulinemia	Skin rash, Osteomyelitis, Bronchiectasis, Chronic otitis media, Neutropenia, Conjunctivitis, Hepa...	ORPHA:33110
Roifman Syndrome	Recurrent pneumonia, Noncompaction cardiomyopathy, Recurrent otitis media, Splenomegaly, Eczema, ...	OMIM:616651
Olmsted Syndrome, X-Linked	Posterior blepharitis, Palmoplantar keratoderma, Hyperkeratosis, Subungual hyperkeratosis, Epider...	OMIM:300918
Eosinophilic Granulomatosis With Polyangiitis	Skin rash, Endocarditis, Increased inflammatory response, Purpura, Recurrent intrapulmonary hemor...	ORPHA:183
Lamellar Ichthyosis	Pruritus, Hyperkeratosis, Erythroderma, Chronic otitis media, Abnormality of the helix, Lack of s...	ORPHA:313
Ichthyosis, Spastic Quadriplegia, And Mental Retardation	Hyperkeratosis, Dry skin, Scaling skin, Erythema	OMIM:614457
Retinal Venous Beading	Retinal infarction, Vitreous hemorrhage, Abnormal distribution of retinal arterioles and venules,...	OMIM:180080
O'Sullivan-Mcleod Syndrome	Increased circulating antibody level, Eosinophilia	ORPHA:99965
Neurodegeneration, Infantile-Onset, Biotin-Responsive	Decreased circulating IgG level	OMIM:618973
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	T lymphocytopenia, Abnormal serum interleukin level, Decreased proportion of memory B cells, Panh...	ORPHA:79124
Spondyloenchondrodysplasia With Immune Dysregulation	T lymphocytopenia, Vitiligo, Systemic lupus erythematosus, Hypopigmented skin patches on arms, Au...	OMIM:607944
Lichtenstein Syndrome	Hirsutism, Neutropenia, Synophrys, Recurrent infections, Anteverted nares, Recurrent respiratory ...	OMIM:246550
Systemic Mastocytosis With Associated Hematologic Neoplasm	Myeloid leukemia, Pruritus, Leukocytosis, Hypotension, Chronic lymphatic leukemia, Normocytic ane...	ORPHA:98849
Immunoglobulin A Deficiency 1	Decreased circulating IgA level	OMIM:137100
Epidermolysis Bullosa Simplex, Generalized, With Scarring And Hair Loss	Alopecia of scalp, Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails, Hy...	OMIM:617294
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Abnormal retinal morphology, Albinism, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:2786
Whim Syndrome	Respiratory tract infection, Severe periodontitis, Vitiligo, Recurrent bacterial infections, Bron...	ORPHA:51636
Nijmegen Breakage Syndrome	T lymphocytopenia, Autoimmune hemolytic anemia, Thrombocytopenia, Dysgammaglobulinemia, B lymphoc...	OMIM:251260
Griscelli Syndrome Type 3	Iris hypopigmentation, Hypopigmentation of hair, Partial albinism	ORPHA:79478
Poikiloderma With Neutropenia	Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Neutropenia, Conjunctivitis, Sp...	OMIM:604173
Netherton Syndrome	Skin rash, Increased circulating IgE level, Erythroderma, Decreased circulating antibody level, E...	ORPHA:634
Felty Syndrome	Rheumatoid arthritis, Neutropenia, Splenomegaly	OMIM:134750
Ulerythema Ophryogenesis	Erythema, Follicular hyperkeratosis, Inflammatory abnormality of the skin	ORPHA:3406
Agammaglobulinemia 6, Autosomal Recessive	Chronic sinusitis, Recurrent otitis media, Conjunctivitis, Agammaglobulinemia, Recurrent pneumonia	OMIM:612692
Immunodeficiency 22	Decreased proportion of CD4-positive helper T cells	OMIM:615758
Inflammatory Skin And Bowel Disease, Neonatal, 2	Pustule, Epidermal acanthosis, Hypertension, Recurrent pneumonia	OMIM:616069
Macrosomia Adiposa Congenita	Eosinophilia	OMIM:248100
Aspergillosis	Increased circulating IgE level, Bronchiectasis, Intracranial hemorrhage, Pneumonia, Neutropenia,...	ORPHA:1163
Sea-Blue Histiocytosis	Thrombocytopenia, Sea-blue histiocytosis, Hyperpigmentation of the skin, Splenomegaly, Mediastina...	ORPHA:158029
Acral Self-Healing Collodion Baby	Lack of skin elasticity, Palmoplantar scaling skin, Erythema	ORPHA:281127
Complement Component 5 Deficiency	Decreased serum complement C5, Generalized seborrheic dermatitis, Reduced hemolytic complement ac...	OMIM:609536
Autoinflammation, Immune Dysregulation, And Eosinophilia	Atopic dermatitis, Membranous nephropathy, Hepatosplenomegaly, Colonic eosinophilia, Eosinophilia	OMIM:618999
Dermatitis, Atopic	Pruritus, Allergic rhinitis, Atopic dermatitis, Facial erythema, Conjunctivitis, Eczema, Recurren...	OMIM:603165
Ige Responsiveness, Atopic	Eczema, Allergic rhinitis, Increased circulating IgE level	OMIM:147050
Homocarnosinosis	Abnormality of skin pigmentation, Abnormality of retinal pigmentation	OMIM:236130
Fanconi Anemia, Complementation Group I	Chromosomal breakage induced by crosslinking agents, Hypothyroidism, Neutropenia, Bone marrow hyp...	OMIM:609053
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Myositis, Eosinophilia	OMIM:253600
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia, Recurrent bacterial infections	ORPHA:86788
Acquired Partial Lipodystrophy	Lymphocytosis, Decreased serum complement C3, Hepatic steatosis	ORPHA:79087
White Forelock With Malformations	Bronchomalacia, White forelock, Poliosis	OMIM:277740
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating antibody level	OMIM:614069
Cutaneous Mastocytoma	Abnormality of skin pigmentation, Hypermelanotic macule, Cutaneous mastocytosis	ORPHA:79455
Oculotrichodysplasia	Scaling skin, Dry skin	OMIM:257960
Retinitis Pigmentosa 35	Cone/cone-rod dystrophy, Abnormality of skin pigmentation, Rod-cone dystrophy	OMIM:610282
Vulvovaginal Gingival Syndrome	Pruritus, Erythema, Abnormality of tumor necrosis factor secretion, Epidermal acanthosis, Paraker...	ORPHA:83453
Oculocutaneous Albinism Type 3	Iris hypopigmentation, Freckling, Generalized hypopigmentation of hair, White eyebrow, Red hair, ...	ORPHA:79433
Gastrointestinal Defects And Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Interface hepatitis, Hypoplasia of the thymus	OMIM:243150
Good Syndrome	Decreased circulating antibody level, Aplasia/Hypoplasia of the thymus, Thrombocytopenia, Mediast...	ORPHA:169105
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Mottled pigmentation, Spotty hypopigmentation, Mixed hypo- and hyperpigmentation of the skin, Ret...	ORPHA:79397
Leukocyte Adhesion Deficiency, Type Iii	Leukocytosis, Extramedullary hematopoiesis, Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegal...	OMIM:612840
Myotonic Dystrophy 2	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:602668
Neonatal Inflammatory Skin And Bowel Disease	Pustule, Chapped lip, Recurrent bacterial skin infections, Scaling skin, Erythema, Psoriasiform d...	ORPHA:294023
Ectodermal Dysplasia/Skin Fragility Syndrome	Scaling skin, Palmoplantar hyperkeratosis	OMIM:604536
Congenital Non-Bullous Ichthyosiform Erythroderma	Pruritus, Palmoplantar keratoderma, Erythroderma, Hearing impairment, Keratitis	ORPHA:79394
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Neutropenia, Recurrent bacterial infections	OMIM:610738
Microphthalmia, Isolated 5	Abnormality of skin pigmentation, Optic disc drusen, Rod-cone dystrophy, Retinal pigment epitheli...	OMIM:611040
Yemenite Deaf-Blind Hypopigmentation Syndrome	Chorioretinal coloboma, Patchy hypo- and hyperpigmentation, Numerous pigmented freckles, White fo...	OMIM:601706
Lissencephaly Syndrome, Norman-Roberts Type	Hypoplastic spleen	ORPHA:89844
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Neutropenia, Thrombocytopenia, Pancreatitis, Anemia, Sepsis, Optic atrophy	ORPHA:289916
Esophagitis, Eosinophilic, 2	Esophagitis, Eosinophilia	OMIM:613412
Esophagitis, Eosinophilic, 1	Esophagitis, Eosinophilia	OMIM:610247
Chédiak-Higashi Syndrome	Skin rash, Vacuolated lymphocytes, Recurrent bacterial skin infections, Large clumps of pigment i...	ORPHA:167
Eosinophilic Gastroenteritis	Allergic rhinitis, Atopic dermatitis, Hematochezia, Leukocytosis, Anemia, Eosinophilia	ORPHA:2070
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Abnormal T cell morphology, Macronodular cirrhosis, Decreased circulating IgA level	OMIM:215250
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia	ORPHA:231401
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Erythroderma, Lymphopenia, Eosinophilia, Decreased circulating antibody level	OMIM:617425
Neutrophilia, Hereditary	Neutrophilia, Hepatosplenomegaly	OMIM:162830
Mucopolysaccharidosis-Plus Syndrome	Low anterior hairline, Nephritis, Low posterior hairline, Hirsutism, Chorioretinal hypopigmentati...	OMIM:617303
Dyskeratosis Congenita, Autosomal Recessive 5	Decreased circulating antibody level, Bone marrow hypocellularity, Leukopenia	OMIM:615190
Fanconi Anemia, Complementation Group F	Cryptorchidism, Chromosomal breakage induced by crosslinking agents, Thrombocytopenia, Anemia, Le...	OMIM:603467
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Increased circulating IgM level, Leukocytosis, Increased proportion of CD4-positive T cells, Incr...	OMIM:617099
Proteasome-Associated Autoinflammatory Syndrome 2	Thrombocytopenia, Increased circulating antibody level, Lymphadenopathy	OMIM:618048
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Exocrine pancreatic insufficiency, Autoimmune thrombocytopenia, Recurrent upper respiratory tract...	OMIM:615952
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Mirage Syndrome	Cryptorchidism, Hypergonadotropic hypogonadism, Lymphopenia, Thrombocytopenia, Adrenal insufficie...	OMIM:617053
Waardenburg Syndrome, Type 2A	Albinism, Heterochromia iridis, Premature graying of hair, Underdeveloped nasal alae, White eyebr...	OMIM:193510
Acquired Ichthyosis	Pruritus, Palmoplantar keratoderma, Hyperkeratosis, Erythema, Recurrent skin infections, Dry skin	ORPHA:454
Laterality Defects, Autosomal Dominant	Asplenia	OMIM:601086
Boutonneuse Fever	Increased circulating IgM level, Lymphadenopathy, Thrombocytopenia, Increased circulating IgG lev...	ORPHA:83313
Psoriasis-Related Juvenile Idiopathic Arthritis	Psoriasiform lesion, Skin rash, Pruritus, Iridocyclitis, Iritis, Uveitis, Abnormality of tumor ne...	ORPHA:85436
Immunodeficiency, Common Variable, 6	Chronic decreased circulating total IgG, Complete or near-complete absence of specific antibody r...	OMIM:613496
Aregenerative Anemia	Erythroid hypoplasia, Abnormality of interleukin secretion, Decreased proportion of CD4-positive ...	ORPHA:101096
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome	Pustule, Increased inflammatory response, Increased circulating antibody level, Skin ulcer, Myosi...	ORPHA:69126
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Asplenia	OMIM:618948
Waardenburg Syndrome Type 2	Hypopigmentation of hair, Heterochromia iridis, Premature graying of hair, White forelock, Hypopi...	ORPHA:895
Leishmaniasis	Abnormal macrophage morphology, Increased circulating antibody level, Pancytopenia, Thrombocytope...	ORPHA:507
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Erythroderma, Scaling skin, Follicular hyperkeratosis, Hearing impairment, Keratitis, Dry skin	OMIM:308205
Fanconi Anemia, Complementation Group N	Chromosomal breakage induced by crosslinking agents, Aplastic anemia	OMIM:610832
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia, Increased circulating IgA level	OMIM:314000
Obesity Due To Congenital Leptin Deficiency	Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Decreased proportion of...	ORPHA:66628
Hypotrichosis With Juvenile Macular Degeneration	Freckling, Melanocytic nevus, Sparse scalp hair, Abnormality of macular pigmentation, Brittle hai...	ORPHA:1573
Congenital Lethal Erythroderma	Congenital exfoliative erythroderma, Dry skin	ORPHA:1954
Griscelli Syndrome	Abnormality of neutrophils, Decreased circulating antibody level, Thrombocytopenia, Jaundice, Hep...	ORPHA:381
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema	Inflammation of the large intestine, Chronic gastritis, Dysphagia, Neutropenia, Colitis, Diarrhea...	OMIM:608809
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hemophagocytosis, Pancytopenia, Thrombocytopenia, Jaundice, Splenomegaly, Hepatomegaly, Anemia, L...	OMIM:603553
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	T lymphocytopenia, Increased circulating IgM level, Reduced natural killer cell count, Decreased ...	OMIM:242860
Fanconi Anemia, Complementation Group E	Cryptorchidism, Chromosomal breakage induced by crosslinking agents, Hypergonadotropic hypogonadi...	OMIM:600901
Angiostrongyliasis	Pruritus, Increased circulating IgM level, Increased circulating specific IgE antibody, Hypereosi...	ORPHA:74
Coccidioidomycosis	Peritonitis, Skin rash, Pruritus, Pericarditis, Pneumonia, Vasospasm, Increased circulating IgG l...	ORPHA:228123
Pruritic Urticarial Papules And Plaques Of Pregnancy	Pruritis on abdomen, Pruritus, Palmar pruritus, Facial erythema, Pruritus on foot, Eczematoid der...	ORPHA:64745
Deafness, Neural, With Atypical Atopic Dermatitis	Sensorineural hearing impairment, Increased circulating IgE level, Late onset atopic dermatitis	OMIM:221700
Olmsted Syndrome 2	Pruritus, Palmoplantar keratoderma, Hyperkeratosis, Cheilitis, Epidermal acanthosis, Parakeratosi...	OMIM:619208
Folate Malabsorption, Hereditary	Folate-responsive megaloblastic anemia, Neutropenia, Thrombocytopenia, Diarrhea, Recurrent infect...	OMIM:229050
Immunodeficiency 66	Pustule, Recurrent skin infections, Defective T cell proliferation	OMIM:618847
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Thyroiditis, Lymphopenia, Neutropenia i...	ORPHA:391487
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Onychomycosis, Eczema, Lymphadenopathy, Pulmonary fibrosis, Lymphadenitis, Acute pancreatitis, Re...	OMIM:618935
Retinohepatoendocrinologic Syndrome	Abnormality of skin pigmentation, Cone dystrophy, Optic disc pallor	OMIM:268040
Obesity Due To Leptin Receptor Gene Deficiency	Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Decreased proportion of...	ORPHA:179494
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Decreased circulating IgA level, Anemia, Splenomegaly, Decreased circulating total ...	OMIM:612301
Fanconi Anemia, Complementation Group A	Cryptorchidism, Chromosomal breakage induced by crosslinking agents, Hypergonadotropic hypogonadi...	OMIM:227650
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Chorioretinal dysplasia, R...	OMIM:251270
Seborrhea-Like Dermatitis With Psoriasiform Elements	Hyperkeratosis, Seborrheic dermatitis	OMIM:610227
Indolent Systemic Mastocytosis	Increased proportion of CD25+ mast cells, Hepatomegaly, Splenomegaly, Abnormal mast cell morpholo...	ORPHA:98848
Classic Mycosis Fungoides	Skin rash, Pruritus, Hyperkeratosis, Abnormal lymphocyte morphology, Erythema, Splenomegaly, Ecze...	ORPHA:2584
Oculocutaneous Albinism Type 4	Iris hypopigmentation, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, W...	ORPHA:79435
Lig4 Syndrome	Cryptorchidism, Abnormality of chromosome stability, Leukocytosis, Hypothyroidism, Pancytopenia, ...	ORPHA:99812
Riddle Syndrome	Decreased circulating IgG level	OMIM:611943
Neuronal Intestinal Pseudoobstruction	Decreased circulating antibody level	ORPHA:99811
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia	Decreased circulating antibody level	OMIM:618042
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Severe B lymphocytopenia, Cryptorchidism, Cholelithiasis, Biliary hyperplasia, Pancreatic hypopla...	ORPHA:83617
Immunodeficiency 31C	Autoimmune hemolytic anemia, Autoimmunity, Lymphopenia, Diarrhea, Chronic mucocutaneous candidias...	OMIM:614162
Purine Nucleoside Phosphorylase Deficiency	Recurrent opportunistic infections, Pure red cell aplasia, Autoimmune thrombocytopenia, Recurrent...	OMIM:613179
Schimke Immunoosseous Dysplasia	Bulbous nose, Lymphopenia, Neutropenia, Coarse hair, Thrombocytopenia, Abnormal T cell morphology...	OMIM:242900
Idiopathic Hypereosinophilic Syndrome	Pruritus, Intracranial hemorrhage, Vasculitis in the skin, Pulmonary embolism, Chronic hepatitis,...	ORPHA:3260
Infantile Digital Fibromatosis	Hyperkeratosis, Epidermal acanthosis, Parakeratosis	ORPHA:199267
Fanconi Anemia, Complementation Group C	Cryptorchidism, Chromosomal breakage induced by crosslinking agents, Hypergonadotropic hypogonadi...	OMIM:227645
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	T lymphocytopenia, Increased circulating IgE level, Decreased proportion of CD8-positive T cells,...	ORPHA:508533
Scleroderma	Pruritus, Osteomyelitis, Intestinal bleeding, Pericarditis, Right ventricular failure, Myelitis, ...	ORPHA:801
Cartilage-Hair Hypoplasia	Sparse hair, Sparse eyelashes, Sparse facial hair, Impaired lymphocyte transformation with phytoh...	OMIM:250250
Cirrhosis, Familial	Increased circulating antibody level	OMIM:118900
Erythrokeratoderma ''En Cocardes''	Abnormality of skin pigmentation	ORPHA:315
Necrobiosis Lipoidica	Granuloma, Erythema, Telangiectasia of the skin, Abnormality of neutrophil physiology, Skin ulcer...	ORPHA:542592
Epidermodysplasia Verruciformis	Pustule, Seborrheic dermatitis, Recurrent skin infections, Telangiectasia of the skin	ORPHA:302
Ermine Phenotype	Vitiligo, Albinism, White eyebrow, White hair, White eyelashes, Spotty hyperpigmentation	OMIM:227010
Pelger-Huet Anomaly	Abnormality of neutrophils, Recurrent otitis media, Neutropenia, Hyposegmentation of neutrophil n...	OMIM:169400
Diamond-Blackfan Anemia 8	Short nose, Neutropenia, Wide nasal bridge, Increased mean corpuscular volume, Macrocytic anemia	OMIM:612563
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Neutropenia, Thrombocytopenia, Anemia, Splenomegaly, Pancreatitis, Optic atrophy	ORPHA:79312
Quinquaud Folliculitis Decalvans	Pustule, Recurrent skin infections, Erythema	ORPHA:346
Uncombable Hair Syndrome	Trichodysplasia, Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Woolly hair	ORPHA:1410
Immunoneurologic Disorder, X-Linked	Decreased circulating IgG2 level	OMIM:300076
Nodular Lymphocyte Predominant Hodgkin Lymphoma

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