Gene: Gimap5 MGI:2442232

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

GTPase, IMAP family member 5

Synonyms:

E230026N22Rik

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 Gimap5 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 Gimap5 (1 diseases)
Human diseases predicted to be associated with Gimap5 (1626 diseases)

The table below shows human diseases associated to Gimap5 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Portal Hypertension, Noncirrhotic, 2		Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio...	OMIM:619463

The table below shows human diseases predicted to be associated to Gimap5 by phenotypic similarity.

Disease	Matching phenotypes	Source
Okt4 Epitope Deficiency	Abnormal T cell morphology	OMIM:613949
Immunodeficiency 18	Reduced natural killer cell count, Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Abno...	OMIM:615615
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating ...	OMIM:615285
Immunodeficiency 102	Decreased proportion of CD4-positive helper T cells, Hepatomegaly, Recurrent skin infections, Aut...	OMIM:301082
Autoinflammation With Infantile Enterocolitis	Hypoalbuminemia, Reduced natural killer cell count, Secretory diarrhea, Failure to thrive, Increa...	OMIM:616050
Immunodeficiency 97 With Autoinflammation	Diarrhea, Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosple...	OMIM:619802
Immunodeficiency 105	Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina...	OMIM:619924
Caspase 8 Deficiency	Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Failure to thrive, Decreased c...	OMIM:607271
Immunodeficiency 15B	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Fai...	OMIM:615592
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced natural killer c...	OMIM:619510
Severe Combined Immunodeficiency, X-Linked	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Failure to thrive, Decreased cir...	OMIM:300400
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pneumonia, Decrea...	OMIM:619281
Immunodeficiency 112	Decreased circulating IgG level, Reduced natural killer cell count, Chronic mucocutaneous candidi...	OMIM:620449
Immunodeficiency 24	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:615897
Immunodeficiency 57 With Autoinflammation	Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci...	OMIM:618108
Immunodeficiency, Common Variable, 11	Decreased circulating IgG level, Abnormal T cell count, Inflammation of the large intestine, Fail...	OMIM:615767
Immunodeficiency 48	Pneumonia, Eczematoid dermatitis, Failure to thrive, Panhypogammaglobulinemia, Abnormal B cell co...	OMIM:269840
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619824
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci...	OMIM:618261
Immunodeficiency 70	Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, Recurrent s...	OMIM:618969
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos...	OMIM:615631
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn...	OMIM:615214
Immunodeficiency 52	Recurrent pneumonia, Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia,...	OMIM:617514
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Abnormal natu...	OMIM:613101
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Decreased circulating IgG level, Atopic dermatitis, Cutaneous abscess, Increased circulating IgE ...	OMIM:618944
Immunodeficiency, Common Variable, 1	Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Diarrhea, Recurrent pneumonia,...	OMIM:607594
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgG level, Protein-losing enteropathy, Recurrent pneumonia, Recurrent otiti...	OMIM:613502
Lymphoproliferative Syndrome, X-Linked, 2	Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hemophagocytosis, Hepatitis, ...	OMIM:300635
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Inflammation of the large intestine, Increased circulating IgE level, Recurrent otitis media, Hyp...	ORPHA:98813
Combined Immunodeficiency, X-Linked	Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-po...	OMIM:312863
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Lymphopenia, Leukopenia, Postnatal growth retardation, Splenomeg...	OMIM:620210
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Decreased specific pneumococcal antibody level, Minimal change glomerulonephritis, Impaired lymph...	OMIM:617006
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Abnormal T cell count, Diarrhea, Recurrent pneumonia, Impaired T...	OMIM:240500
Persistent Polyclonal B-Cell Lymphocytosis	Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Eczematoid dermatitis, Increased circulating IgE level, Decreased proportion of CD8-positive T ce...	OMIM:617241
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Decreased circulating IgG level, Diarrhea, Eczematoid dermatitis, Lymphopenia...	OMIM:616100
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Bronchiectasis, Decrease...	OMIM:618394
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cervical l...	OMIM:618987
Immunodeficiency, Common Variable, 3	Abnormal T cell count, Chronic decreased circulating total IgG, Recurrent otitis media, Decreased...	OMIM:613493
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Inflammation of the large intestine, Diarrhea, Psoriasiform dermatitis, Hepatomegaly, Autoimmune ...	ORPHA:436159
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Diarrhea, Lymphopenia, Lymph node hypoplasia, Decreased proportion of CD4-positive helper T cells...	ORPHA:276
Immunodeficiency 62	Decreased circulating IgG level, Decreased proportion of memory B cells, Complete or near-complet...	OMIM:618459
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Bone marrow hypocellularity, Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte mor...	ORPHA:86841
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol...	ORPHA:766
Immunodeficiency 8 With Lymphoproliferation	Gastroesophageal reflux, Recurrent otitis media, Lymphopenia, Complete or near-complete absence o...	OMIM:615401
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ...	OMIM:616452
Immunodeficiency, Common Variable, 4	Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Recurrent sinusitis,...	OMIM:613494
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Erythroid hyperplasi...	OMIM:616860
Immunodeficiency, Common Variable, 8, With Autoimmunity	Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto...	OMIM:614700
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Colonic eosinophil...	OMIM:617638
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Diarrhea, Recurrent otitis media, Decreased...	OMIM:612692
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Short stature, Neutropenia	OMIM:610798
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Abnormal circulating interleukin concentration, Reduced natural killer cell count, Hepatic failur...	ORPHA:158057
Immunodeficiency 44	Lymphopenia, Decreased circulating IgA level, Abnormal circulating IgG level, Elevated circulatin...	OMIM:616636
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Lymphadenitis, Protracted diarrhea, Lymphopenia, Hepatosplenomegaly, Abnormal B cell count, Hepat...	ORPHA:331206
Transcobalamin Deficiency	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Pancytopenia, Neut...	ORPHA:859
Agammaglobulinemia 2, Autosomal Recessive	Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Agammaglobulinemia,...	OMIM:613500
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Recurren...	OMIM:619707
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Increased circulati...	ORPHA:169154
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Lymphopenia, Weight loss, Abdominal pain, Hypoproteinemia, Hypocalcemia, Ane...	ORPHA:90362
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level	OMIM:616911
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, Decreased circulating IgG level, Diarrhea, Decreased circulating IgA level, B lymphocy...	OMIM:614069
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function	ORPHA:231393
Immunodeficiency 115 With Autoinflammation	Hypoalbuminemia, Decreased circulating IgG level, Eczematoid dermatitis, Elevated haptoglobin lev...	OMIM:620632
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ...	OMIM:620430
Immunodeficiency 37	Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an...	OMIM:616098
Immunodeficiency 15A	Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p...	OMIM:618204
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Ulcerative colitis, Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia, ...	OMIM:619398
Familial Hemophagocytic Lymphohistiocytosis	Hemophagocytosis, Erythroderma, Neutropenia, Hepatomegaly, Reduced natural killer cell activity, ...	ORPHA:540
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating IgG level, Reduced natural killer cell count, Recurrent pneumonia, Atopic d...	OMIM:619752
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
Immunodeficiency 104	Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy	OMIM:608971
Pgm3-Cdg	Allergic rhinitis, Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Esophagi...	ORPHA:443811
Immunodeficiency 50	Lymphopenia, Decreased circulating antibody level, Eczematoid dermatitis, Neutropenia	OMIM:300988
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Pneumonia, Reduced natural killer cell count, Diarrhea, Failure to thrive, Decreased circulating ...	OMIM:242860
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Decreased circulating IgG level	OMIM:242880
Immunodeficiency 20	Reduced natural killer cell activity, Recurrent otitis media, Reduced natural killer cell count, ...	OMIM:615707
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Allergic rhinitis, Atopic dermatitis, Reduced natural killer cell count, Recurrent pneumonia, Ecz...	OMIM:243700
Agammaglobulinemia 3, Autosomal Recessive	Diarrhea, Failure to thrive, Recurrent otitis media, Agammaglobulinemia, Absent circulating B cel...	OMIM:613501
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Ileal atresia, Colonic atresia, Lymphopenia, Psoriasiform dermatitis, Intestinal obstruction, Rec...	OMIM:243150
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating IgG level, Crohn's disease, Agammaglobulinemia, Absent circulating B cells,...	OMIM:619705
Reticular Dysgenesis	Diarrhea, Aplasia/Hypoplasia of the thymus, Failure to thrive, Leukopenia, Malabsorption, Skin ra...	ORPHA:33355
Immunodeficiency 54	Hepatomegaly, Reduced natural killer cell count, Splenomegaly, Lymphadenopathy	OMIM:609981
Immunodeficiency 27A	Hypoalbuminemia, Pneumonia, Diarrhea, Enlarged mesenteric lymph node, Anorexia, Hepatosplenomegal...	OMIM:209950
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur...	ORPHA:35078
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Pneumonia, Cutaneous anergy, Absent natural killer cells, Failure to thrive, Decreased lymphocyte...	OMIM:600802
Immunodeficiency 82 With Systemic Inflammation	Diarrhea, Decreased circulating total IgG, Anoperineal fistula, Pustular rash, Recurrent otitis m...	OMIM:619381
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen...	OMIM:133180
Immunodeficiency 43	Hypoalbuminemia, Decreased circulating IgG level, Reduced natural killer cell count, Decreased sp...	OMIM:241600
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Abnormality of humoral immunity, Diarrhea, Inflammatory abnormality of the skin, Recurrent pneumo...	ORPHA:277
Immunodeficiency 103, Susceptibility To Fungal Infections	Decreased circulating iron concentration, Increased circulating IgE level, Hypereosinophilia, Abn...	OMIM:212050
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy...	ORPHA:67044
Alpha-Heavy Chain Disease	Malabsorption, Abnormal small intestine morphology, Splenomegaly, Hypocalcemia, Dysgammaglobuline...	ORPHA:100025
Immunodeficiency 76	Recurrent pneumonia, Lymphopenia, Splenomegaly, Chronic diarrhea, Lymphadenopathy, B lymphocytope...	OMIM:619164
Wiskott-Aldrich Syndrome 2	Eczematoid dermatitis, Decreased proportion of CD8-positive T cells, Defective T cell proliferati...	OMIM:614493
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat...	OMIM:603902
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt...	OMIM:614172
Immunodeficiency 40	Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Elevat...	OMIM:616433
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Microcephalic Primordial Dwarfism, Toriello Type	Severe short stature, Decreased circulating IgG level, Intrauterine growth retardation, Neutropen...	ORPHA:2643
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diarrhea, Inflammatory abnormality of the skin, Increased circulating IgE level, Lymphopenia, Apl...	OMIM:102700
Mhc Class Ii Deficiency 1	Cutaneous anergy, Chronic mucocutaneous candidiasis, Failure to thrive, Protracted diarrhea, Panh...	OMIM:209920
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T cells, Hepa...	ORPHA:911
Sea-Blue Histiocyte Disease	Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega...	OMIM:269600
Immunodeficiency 9	Decreased circulating IgG level, Failure to thrive, Lymphopenia, Decreased circulating IgA level,...	OMIM:612782
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Diarrhea, Decreased lymphocyte proliferation in response to an...	OMIM:619313
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level...	OMIM:618534
Activated Pi3K-Delta Syndrome	Pneumonia, Recurrent tonsillitis, Failure to thrive, Recurrent otitis media, Decreased circulatin...	ORPHA:397596
Immunodeficiency 17	Abnormal B cell morphology, Anoperineal fistula, Eczematoid dermatitis, Failure to thrive, Chroni...	OMIM:615607
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat...	OMIM:611926
Cernunnos-Xlf Deficiency	Lymphopenia, T lymphocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Decreased circulatin...	ORPHA:169079
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Immunodeficiency 22	Decreased circulating IgG level, Diarrhea, Failure to thrive, Protracted diarrhea, Decreased circ...	OMIM:615758
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Lymphopenia, Lymph node hypoplasia, Splenom...	OMIM:602450
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T...	OMIM:615513
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Neutropenia, Ane...	OMIM:603552
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate...	OMIM:224120
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, B lymphocytopenia	OMIM:233650
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic anemia, Lymphadenopathy, N...	OMIM:619220
Immunodeficiency 114, Folate-Responsive	Decreased circulating IgG level, Atopic dermatitis, Increased circulating ferritin concentration,...	OMIM:620603
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato...	OMIM:613673
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating IgA level, Interstitial pneumonitis, Enterocolitis, Decreased proportion of...	OMIM:614878
Immunodeficiency, Common Variable, 14	Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve...	OMIM:617765
Immunodeficiency, Common Variable, 5	Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count	OMIM:613495
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes	T lymphocytopenia	OMIM:242870
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Abnormality of the liver, Thrombocytopenia	ORPHA:1980
Immunodeficiency 46	Conjunctivitis, Failure to thrive, Chronic diarrhea, Neutropenia, Anemia, Intermittent thrombocyt...	OMIM:616740
Dyskeratosis Congenita, Autosomal Recessive 5	Bone marrow hypocellularity, Postnatal growth retardation, Leukopenia, Intrauterine growth retard...	OMIM:615190
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, A...	ORPHA:37042
Immune Thrombocytopenia	Thrombocytopenia	OMIM:188030
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th...	ORPHA:444463
Hepatoportal Sclerosis	Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circulating hepatic tran...	ORPHA:64743
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive...	ORPHA:3261
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism	OMIM:183350
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Decreased proportion of memory B cells, Reduced natural killer cell count, Inflammation of the la...	OMIM:301074
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Neutropenia, Hepatomegaly...	OMIM:308240
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin	ORPHA:231249
Immunodeficiency 10	Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati...	OMIM:612783
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Pneumonia, Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mit...	ORPHA:169160
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Diarrhea, Failure to thrive, Recurrent otitis media, Decreased CD4:CD8 ratio, Splenomegaly, Autoi...	OMIM:618495
Selective Igm Deficiency	Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-positive T ce...	ORPHA:331235
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis	OMIM:603529
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Diarrhea, Failure to thrive, Failure to thrive secondary to recurrent infections, Panh...	OMIM:601457
Immunodeficiency By Defective Expression Of Mhc Class Ii	Abnormality of humoral immunity, Abnormal CD4:CD8 ratio, Diarrhea, Protracted diarrhea, Pancytope...	ORPHA:572
Transcobalamin Ii Deficiency	Decreased circulating IgG level, Diarrhea, Vomiting, Failure to thrive, Decreased circulating IgA...	OMIM:275350
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Decreased CD4:CD8 ...	OMIM:300853
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Abnormal hemoglobin, Thrombocytopenia	ORPHA:3319
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells	OMIM:607616
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Immunodeficiency 109 With Lymphoproliferation	Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho...	OMIM:620282
Autoinflammatory Disease, Systemic, With Vasculitis	Diarrhea, Cholestasis, Hepatosplenomegaly, Abnormal circulating IgG level, Elevated circulating a...	OMIM:620376
Histiocytosis, Familial Lipochrome	Histiocytosis, Increased alpha-globulin, Increased circulating antibody level	OMIM:235900
Bone Marrow Failure Syndrome 4	Bone marrow hypocellularity, Rhizomelia, Eczematoid dermatitis, Leukopenia, Thrombocytopenia, Ane...	OMIM:618116
Immunoglobulin A Deficiency 2	Abnormal lymphocyte morphology, Decreased circulating IgA level, Recurrent infection of the gastr...	OMIM:609529
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Diarrhea, Hepatosplenomegaly, Pancytopenia, Abnormal circ...	ORPHA:79124
Leishmaniasis	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Pancytopenia, Leukopeni...	ORPHA:507
Autoimmune Lymphoproliferative Syndrome, Type Iia	Follicular hyperplasia, Increased circulating IgA level, Hepatomegaly, Autoimmune thrombocytopeni...	OMIM:603909
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Absent...	OMIM:619846
Agammaglobulinemia, X-Linked	Recurrent otitis media, Lymph node hypoplasia, Prostatitis, Neutropenia, Epididymitis, Pyoderma, ...	OMIM:300755
Hemoglobin-Delta locus	Anemia, Imbalanced hemoglobin synthesis	OMIM:142000
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Weight l...	ORPHA:100024
Immunodeficiency 96	Decreased circulating IgG level, Increased mean corpuscular volume, Increased proportion of gamma...	OMIM:619774
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating IgG level, Panuveitis, Osteomyelitis, Hepatosplenomegaly, Panniculitis, Com...	OMIM:301081
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Immunodeficiency 47	Hepatic bridging fibrosis, Decreased circulating total IgG, Chronic decreased circulating total I...	OMIM:300972
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Immunodeficiency With Hyper-Igm, Type 1	Diarrhea, Enteroviral encephalitis, Increased circulating IgA level, Cirrhosis, Neutropenia, Hepa...	OMIM:308230
Sneddon Syndrome	Decreased circulating total IgM, Lymphopenia	OMIM:182410
Lymphoma, Hodgkin, Classic	Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin	OMIM:236000
Immunodeficiency 32B	Hypoalbuminemia, Pneumonia, Failure to thrive, Impaired oxidative burst, Abnormal circulating IgG...	OMIM:226990
Immunodeficiency 95	Decreased circulating IgG3 level, Lymphopenia, Recurrent viral pneumonia, Increased circulating I...	OMIM:619773
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Hemophagocytosis, Increased circulating ferritin concentration, ...	OMIM:613011
X-Linked Agammaglobulinemia	Weight loss, Neutropenia, Recurrent cutaneous abscess formation, Chronic otitis media, Osteomyeli...	ORPHA:47
Preeclampsia/Eclampsia 1	Elevated circulating hepatic transaminase concentration, Thrombocytopenia	OMIM:189800
Wiskott-Aldrich Syndrome	Inflammation of the large intestine, Diarrhea, Increased circulating IgE level, Abnormal delayed ...	OMIM:301000
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Herpes simplex encephalitis, Increased circulating IgE level, Recurrent otitis media, Hepatosplen...	OMIM:618982
Dyskeratosis Congenita, Autosomal Dominant 1	Bone marrow hypocellularity, Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leu...	OMIM:127550
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:610539
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Autoimmune Lymphoproliferative Syndrome	Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Autoimmune hemolytic ane...	OMIM:601859
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Ell...	OMIM:300835
Congenital Disorder Of Glycosylation, Type Iil	Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Dec...	OMIM:614576
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Decreased lymphocyte proliferation in response to mitogen, Reduced natural killer cell count, Dec...	ORPHA:221139
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Recurrent pneumonia, Vomiting, Eczematoid dermatitis, Hypersegmentation of neutrophil nuclei, Lym...	OMIM:617780
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Hepatomegaly, Anemia, Jaundice	OMIM:613977
Eosinophilia, Familial	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	OMIM:131400
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eczematoid dermatitis, Hepatitis, Failure to thrive, Increased circulating IgE level, Decreased F...	OMIM:304790
Macrophage Activation Syndrome	Hemophagocytosis, Elevated circulating alanine aminotransferase concentration, Neutropenia, Hepat...	ORPHA:158061
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina...	OMIM:606843
Reticuloendotheliosis, X-Linked	Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Aicardi-Goutieres Syndrome 6	Intrauterine growth retardation, Chilblains, Splenomegaly, Increased circulating Interferon-alpha...	OMIM:615010
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Failure to thrive, Abnormal circulating IgM level, Neutro...	OMIM:618048
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati...	OMIM:619632
Neutropenia, Chronic Familial	Periodontitis, Neutropenia, Increased circulating antibody level	OMIM:162700
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level, Abnormality of the liver, Absence of lymph node germinal center	OMIM:235550
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Immunodeficiency 92	Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta...	OMIM:619652
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Secondary Intestinal Lymphangiectasia	Intestinal bleeding, Lymphopenia, Intestinal obstruction, Cirrhosis, Celiac disease, Gastrointest...	ORPHA:90363
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, Recurrent otitis media, B lymphocytopenia	OMIM:616941
Hermansky-Pudlak Syndrome 2	Reduced natural killer cell count, Gastroesophageal reflux, Periodontitis, Enlarged platelet dens...	OMIM:608233
Dominant Beta-Thalassemia	Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F...	ORPHA:231226
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Arthritis, Thrombocytosis, Elevated circulat...	OMIM:604416
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Growth delay, Lymphopenia, Decreased circulating IgA level, Sple...	OMIM:616005
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Abnormal macrophage morphology, Hypopl...	ORPHA:2585
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Intestinal lymphangiectasia, Lymphopenia, Malabsorption, Neonata...	OMIM:152800
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Bone Marrow Failure Syndrome 2	Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia	OMIM:615715
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Purine Nucleoside Phosphorylase Deficiency	Lymphopenia, Lymph node hypoplasia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in pre...	OMIM:613179
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibod...	OMIM:247800
Aicardi-Goutieres Syndrome 3	Hepatosplenomegaly, Elevated circulating hepatic transaminase concentration, Thrombocytopenia	OMIM:610329
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Hypochromic anemia, Anoperineal fistula, Failure to thrive, Increased circulating IgE level, Leuk...	OMIM:618213
Schnitzler Syndrome	Leukocytosis, Splenomegaly, Skin rash, Hepatomegaly, Lymphadenopathy, Arthritis, Anemia, Increase...	ORPHA:37748
Primary Myelofibrosis	Extramedullary hematopoiesis, Anorexia, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomeg...	ORPHA:824
Immunodeficiency 19	Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology	OMIM:615617
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoalbuminemia, Diarrhea, Vomiting, Growth delay, Intestinal lymphangiectasia, Malabsorption, In...	OMIM:226300
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hepatomegaly, Anisocytosis	OMIM:604273
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Lymphopenia, Skin rash, Thrombocytopenia, Ileal ulcer, Colitis, Hemolytic anemia, Anterior uveitis	OMIM:616744
Mitochondrial Neurogastrointestinal Encephalomyopathy	Diarrhea, Gastroesophageal reflux, Vomiting, Elevated circulating hepatic transaminase concentrat...	ORPHA:298
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Abnormally low T cell receptor excision circle level, T lymphocytopenia	OMIM:618806
Congenital Dyserythropoietic Anemia Type Iii	Elevated circulating hepatic transaminase concentration, Increased mean corpuscular volume, Abnor...	ORPHA:98870
Immunodeficiency 116	Absence of CD8-positive T cells	OMIM:608957
Boutonneuse Fever	Diarrhea, Elevated circulating hepatic transaminase concentration, Cervical lymphadenopathy, Leuk...	ORPHA:83313
Immunodeficiency 61	Recurrent otitis media, Obesity, Decreased circulating IgG2 level, Recurrent sinusitis, Decreased...	OMIM:300310
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Recurrent pneumonia, Recurrent tonsillitis, Lymphadenitis, Eczematoid dermati...	OMIM:618935
Dyskeratosis Congenita, Autosomal Recessive 8	Bone marrow hypocellularity, Reduced natural killer cell count, Inflammation of the large intesti...	OMIM:620133
Wolman Disease	Hepatic failure, Malnutrition, Nausea and vomiting, Splenomegaly, Hepatomegaly, Cachexia, Abdomin...	ORPHA:75233
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased lymphocyte proliferation in response to anti-CD3, Increased circulating IgE level, Hepa...	OMIM:606367
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis	OMIM:206200
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Eczematoid dermatitis, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Decreased circulati...	OMIM:615952
Bloom Syndrome	Neoplasm of the colon, Stomach cancer, Abscess, Abnormal proportion of CD8-positive T cells, Acut...	ORPHA:125
Maternal Uniparental Disomy Of Chromosome 1	Gastroesophageal reflux, Growth delay, Failure to thrive, Panhypogammaglobulinemia, Pancytopenia,...	ORPHA:251009
Tularemia	Pneumonia, Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal ad...	ORPHA:3392
Babesiosis	Hepatic failure, Leukopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly, Jaundice, Hemolytic an...	ORPHA:108
Immunodeficiency, Common Variable, 7	Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul...	OMIM:614699
Cronkhite-Canada Syndrome	Gastrointestinal carcinoma, Diarrhea, Furrowed tongue, Stomach cancer, Malabsorption, Splenomegal...	ORPHA:2930
Immunodeficiency 98 With Autoinflammation, X-Linked	Decreased circulating IgG level, Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, ...	OMIM:301078
Rh Deficiency Syndrome	Stomatocytosis, Hepatosplenomegaly, Reticulocytosis, Macrocytic anemia, Anisocytosis, Spherocytos...	ORPHA:71275
Dyskeratosis Congenita, Digenic	Decreased circulating IgG level, Gastroesophageal reflux, Oral leukoplakia, Failure to thrive, De...	OMIM:620040
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy...	OMIM:153600
Immunodeficiency 25	Recurrent pneumonia, Protracted diarrhea, Increased circulating IgE level, Complete or near-compl...	OMIM:610163
Syndromic Diarrhea	Lymphopenia, Hepatoblastoma, Cirrhosis, Hepatomegaly, Panhypogammaglobulinemia, Abnormality of th...	ORPHA:84064
Congenital Disorder Of Glycosylation, Type Iir	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ...	OMIM:301045
Acute Myelomonocytic Leukemia	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	ORPHA:517
Reticular Dysgenesis	Impaired T cell function, Lack of T cell function, Lymphopenia, Congenital agranulocytosis, Leuko...	OMIM:267500
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Diarrhea, Failure to thrive, Hepatocellular necrosis, Hepatosple...	OMIM:618278
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased proportion of memory B cells, Atopic dermatitis, Decreased specific anti-polysaccharide...	ORPHA:70593
Beta-Thalassemia	Cholelithiasis, Hepatitis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Th...	ORPHA:848
Hereditary Folate Malabsorption	Cheilitis, Diarrhea, Gastroesophageal reflux, Failure to thrive, Pancytopenia, Nausea and vomitin...	ORPHA:90045
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi...	OMIM:615206
Whim Syndrome 1	Decreased circulating IgG level, Decreased circulating antibody level, Bronchiectasis, Neutropenia	OMIM:193670
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Splenomegaly, Follicular hyperplasia, Increased circulating antibody level, Hepatom...	OMIM:614470
Ebola Hemorrhagic Fever	Acute pancreatitis, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Hepatitis, Lymphopenia, Leuk...	ORPHA:319218
Thymoma	Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Ulcerative colitis, Abnor...	ORPHA:99867
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B lymphocytopenia, I...	OMIM:150550
Refractory Anemia	Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi...	ORPHA:98826
Retinitis Pigmentosa And Erythrocytic Microcytosis	Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thrombocytopenia, ...	OMIM:616959
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Abnormal B cell morphology, Recurrent otitis media, Intrauterine growth retardation, Cryptorchidi...	OMIM:616910
Osteopetrosis, Autosomal Recessive 8	Anemia, Hepatomegaly, Splenomegaly, Thrombocytopenia	OMIM:615085
Immunodeficiency 53	Recurrent pneumonia, Failure to thrive, Recurrent otitis media, Skin rash, Impaired lymphocyte tr...	OMIM:617585
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia...	OMIM:619126
Gray Platelet Syndrome	Abnormality of thrombocytes, Splenomegaly, Thrombocytopenia	ORPHA:721
Fanconi Anemia, Complementation Group G	Leukemia, Anemia, Neutropenia, Thrombocytopenia	OMIM:614082
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia	OMIM:620534
Congenital Toxoplasmosis	Elevated circulating hepatic transaminase concentration, Hepatomegaly, Lymphadenopathy, Thrombocy...	ORPHA:858
Stormorken Syndrome	Howell-Jolly bodies, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen	OMIM:185070
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Decreased circulating antibody level, Hypoproteinemia, Malabsorption	ORPHA:1116
Griscelli Syndrome	Bone marrow hypocellularity, Hepatitis, Abnormal circulating lipid concentration, Leukopenia, Spl...	ORPHA:381
Asplenia, Isolated Congenital	Howell-Jolly bodies, Asplenia, Thrombocytosis	OMIM:271400
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Omenn Syndrome	Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Lymphadenopathy, Thro...	OMIM:603554
Combined Immunodeficiency Due To Dock8 Deficiency	Pneumonia, Atopic dermatitis, Increased circulating IgE level, Recurrent sinusitis, B lymphocytop...	ORPHA:217390
Rosaï-Dorfman Disease	Anemia, Dysgammaglobulinemia, Lymphadenopathy	ORPHA:158014
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia	OMIM:616738
Immunodeficiency 69	Diarrhea, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentration, Hepa...	OMIM:618963
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Recurrent ...	OMIM:618986
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Hepatic fibrosis, El...	OMIM:620005
Autosomal Agammaglobulinemia	Diarrhea, Bronchiectasis, Hepatitis, Failure to thrive, Osteomyelitis, Malabsorption, Skin rash, ...	ORPHA:33110
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Recurrent pneumonia, Recurrent skin infections, Autoimmune hemolytic anemia, ...	OMIM:616576
Immunodeficiency, Common Variable, 6	Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat...	OMIM:613496
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Sepsis In Premature Infants	Diarrhea, Abdominal distention, Vomiting, Decreased liver function, Functional abnormality of the...	ORPHA:90051
Secretory Component Deficiency	Chronic intestinal candidiasis, Intermittent diarrhea, Secretory IgA deficiency	OMIM:269650
Immunodeficiency 86	Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level	OMIM:619549
Transaldolase Deficiency	Anemia, Hepatosplenomegaly, Cirrhosis, Thrombocytopenia	ORPHA:101028
Aggressive Systemic Mastocytosis	Diarrhea, Hypersplenism, Hepatosplenomegaly, Pancytopenia, Weight loss, Neutropenia, Anorexia, Le...	ORPHA:98850
Leukocyte Adhesion Deficiency, Type Iii	Abnormality of thrombocytes, Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepato...	OMIM:612840
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Diarrhea, Failure to thrive in infancy, Leukocytosis, Panniculitis, Chronic diarrhea, Skin rash, ...	OMIM:617099
Autoimmune Hepatitis	Inflammation of the large intestine, Gastrointestinal hemorrhage, Elevated circulating hepatic tr...	ORPHA:2137
Ataxia-Telangiectasia	Elevated circulating hepatic transaminase concentration, Aplasia/Hypoplasia of the thymus, Failur...	ORPHA:100
Pontocerebellar Hypoplasia, Type 15	Anemia, Chronic neutropenia, Thrombocytopenia	OMIM:619302
Stormorken-Sjaastad-Langslet Syndrome	Anemia, Asplenia, Abnormality of thrombocytes	ORPHA:3204
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia	OMIM:166990
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, F...	ORPHA:79303
Multicentric Reticulohistiocytosis	Cachexia, Histiocytosis, Arthritis	ORPHA:139436
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Agammaglobulinemia 5, Autosomal Dominant	Agammaglobulinemia, High palate	OMIM:613506
Aicardi-Goutieres Syndrome 4	Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Pancytopenia, Spleno...	OMIM:610333
Immunodeficiency, Common Variable, 13	Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, B lymphocytopenia	OMIM:616873
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hemophagocytosis, Hepatosplenomegaly, Anemia, Hypertriglyceridemia, Reduced natural killer cell a...	OMIM:608898
Beta-Thalassemia Intermedia	Cholelithiasis, Extramedullary hematopoiesis, Persistence of hemoglobin F, Decreased liver functi...	ORPHA:231222
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Splenomegaly, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia	ORPHA:79312
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:158029
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke...	OMIM:619041
Beta-Thalassemia Major	Diarrhea, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopi...	ORPHA:231214
Adult Idiopathic Neutropenia	Lymphopenia, Recurrent aphthous stomatitis, Helicobacter pylori infection, Neutropenia, Monocytos...	ORPHA:2688
Mevalonic Aciduria	Diarrhea, Vomiting, Fluctuating splenomegaly, Elevated circulating hepatic transaminase concentra...	OMIM:610377
Lymphoproliferative Syndrome 2	Decreased lymphocyte proliferation in response to mitogen, Recurrent pneumonia, Aplastic anemia, ...	OMIM:615122
Gamma-Heavy Chain Disease	Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegaly, Lymphade...	ORPHA:100026
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, Elevated circulati...	OMIM:251880
Autoinflammatory-Pancytopenia Syndrome	Cholestatic liver disease, Hepatic fibrosis, Granuloma, Hemophagocytosis, Failure to thrive, Hepa...	OMIM:619858
Cyclic Neutropenia	Recurrent tonsillitis, Periodontitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, ...	ORPHA:2686
Prolidase Deficiency	Recurrent pneumonia, Eczematoid dermatitis, Failure to thrive, Elevated circulating aspartate ami...	OMIM:170100
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Periportal fibrosis, Increased hepa...	OMIM:278000
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated circulating hepatic transaminase concentration, Conjunctivitis, Failure to thrive, Lymph...	OMIM:617591
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM, Short stature, Bronchiectasis	OMIM:615139
Mogs-Cdg	Decreased circulating IgG level, Nasogastric tube feeding, Decreased circulating IgA level, Hepat...	ORPHA:79330
Immunodeficiency 67	Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co...	OMIM:607676
Amegakaryocytic Thrombocytopenia, Congenital, 1	Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia	OMIM:604498
Desmoplastic Small Round Cell Tumor	Ileus, Nausea and vomiting, Hepatomegaly, Cachexia, Weight loss, Lymphadenopathy, Abnormal perito...	ORPHA:83469
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Diarrhea, Inflammatory abnormality of the skin, Lymphopenia, Hepatosplenomegaly, Abnormal circula...	ORPHA:391487
Atelis Syndrome 1	Eczematoid dermatitis, Decreased lymphocyte proliferation in response to anti-CD3, Leukopenia, Gl...	OMIM:620184
Gaucher Disease Type 1	Hypersplenism, Hepatosplenomegaly, Pancytopenia, Increased circulating antibody level, Cirrhosis,...	ORPHA:77259
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis	OMIM:607624
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration...	ORPHA:822
Burkitt Lymphoma	Abnormal lymph node morphology, Abnormality of the spleen, Abnormality of the liver, Decreased pr...	ORPHA:543
Folate Malabsorption, Hereditary	Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:229050
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Decreased liver...	OMIM:617021
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di...	OMIM:254450
Isolated Agammaglobulinemia	Pneumonia, Diarrhea, Failure to thrive, Abnormal lymphocyte morphology, Malabsorption, Otitis med...	ORPHA:229717
Acetophenetidin Sensitivity	Methemoglobinemia, Hemolytic anemia	OMIM:200300
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome...	ORPHA:846
Mirage Syndrome	Lymphopenia, Leukopenia, Thrombocytopenia, Anemia, Hypoplastic spleen	OMIM:617053
Hb Bart'S Hydrops Fetalis	Anemia, Hepatomegaly, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Elevated circulating hepatic transaminase concentration, Exocrine pancreatic insufficiency, Abnor...	OMIM:618752
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Keratitis, Eczematoid dermatitis, Increased circulating IgE level, Recurrent otitis media, Eosino...	OMIM:618523
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a...	OMIM:159550
Celiac Disease, Susceptibility To, 1	Diarrhea, Postnatal growth retardation, Weight loss, Abdominal distention, Celiac disease, Abdomi...	OMIM:212750
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly	OMIM:618852
Acute Erythroid Leukemia	Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, E...	ORPHA:318
Roifman Syndrome	Recurrent pneumonia, Eczematoid dermatitis, Recurrent otitis media, Postnatal growth retardation,...	ORPHA:353298
Pyoderma Gangrenosum	Inflammation of the large intestine, Rheumatoid arthritis, Increased circulating antibody level, ...	ORPHA:48104
Immunodeficiency 87 And Autoimmunity	Cholestasis, Lymphopenia, Decreased CD4:CD8 ratio, Hepatic steatosis, Elevated circulating alanin...	OMIM:619573
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an...	OMIM:619375
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Protein-losing enteropathy, Hematochezia, Diarrhea, Xerostomia, Vomiting, Gastrointestinal carcin...	OMIM:175500
Good Syndrome	Thymoma, Mediastinal lymphadenopathy, Diarrhea, Aplasia/Hypoplasia of the thymus, Recurrent skin ...	ORPHA:169105
Amoebiasis Due To Entamoeba Histolytica	Hypoalbuminemia, Diarrhea, Elevated circulating hepatic transaminase concentration, Protracted di...	ORPHA:67
Common Variable Immunodeficiency	Pneumonia, Bronchiectasis, Elevated circulating hepatic transaminase concentration, Failure to th...	ORPHA:1572
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen...	OMIM:605258
Icf Syndrome	Lymphopenia, Malabsorption, Protruding tongue, Anemia, Macroglossia, Abnormality of neutrophils, ...	ORPHA:2268
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Failure to thrive, Rectal abscess, Panhypogammaglobulinemia, Recurrent otiti...	OMIM:601495
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Recurrent pneumonia, Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, Elevated circulating...	OMIM:619750
Majeed Syndrome	Inflammatory abnormality of the skin, Failure to thrive, Osteomyelitis, Malabsorption, Leukocytos...	ORPHA:77297
Vitamin B12-Unresponsive Methylmalonic Acidemia	Leukopenia, Macrocytic anemia, Hepatomegaly, Pancreatitis, Thrombocytopenia, Anemia	ORPHA:27
Atypical Hemolytic Uremic Syndrome	Thrombocytopenia, Microangiopathic hemolytic anemia	ORPHA:2134
Mantle Cell Lymphoma	Splenomegaly, Abnormality of the gastrointestinal tract, Weight loss, Lymphadenopathy, Anorexia	ORPHA:52416
Shigellosis	Microangiopathic hemolytic anemia, Cholestasis, Abscess, Anorexia, Abdominal pain, Abnormal blood...	ORPHA:810
Heme Oxygenase 1 Deficiency	Cervical lymphadenopathy, Elevated circulating aspartate aminotransferase concentration, Elevated...	OMIM:614034
Osteopetrosis, Autosomal Recessive 7	Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level, Splenomega...	OMIM:612301
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Nodular regenerative hyperplasia of liver, Abnormality of the hepatic vasculature, Elevated circu...	ORPHA:210136
Thrombocytopenia 7	Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ...	OMIM:619130
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:611490
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Bleeding Disorder, Platelet-Type, 19	Anemia, Macrothrombocytopenia, Thrombocytopenia	OMIM:616176
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia	ORPHA:289916
Immunodeficiency 58	Allergic rhinitis, Recurrent pneumonia, Bronchiectasis, Eczematoid dermatitis, Cutaneous abscess,...	OMIM:618131
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia	OMIM:231000
Iga Pemphigus	Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Eosinophilia, Increased circul...	ORPHA:555905
Immunodeficiency 12	Decreased lymphocyte proliferation in response to anti-CD3, Esophageal stricture, Recurrent aphth...	OMIM:615468
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo...	ORPHA:3226
Malaria	Anemia, Thrombocytopenia	ORPHA:673
Bloom Syndrome	Decreased circulating IgG level, Small for gestational age, Leukemia, Postnatal growth retardatio...	OMIM:210900
Rh-Null, Amorph Type	Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis	OMIM:617970
Agammaglobulinemia 9, Autosomal Recessive	Eczematoid dermatitis, Failure to thrive, Agammaglobulinemia, Seborrheic dermatitis, Absent circu...	OMIM:619693
Hemophagocytic Syndrome Associated With An Infection	Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Pancytopenia, Abnormal...	ORPHA:158048
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib...	OMIM:202700
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red...	OMIM:133100
Systemic Lupus Erythematosus 17	Lymphopenia, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia	OMIM:301080
Immunodeficiency 31C	Diarrhea, Decreased lymphocyte proliferation in response to anti-CD3, Lymphopenia, Weight loss, H...	OMIM:614162
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio...	OMIM:619463
Non-Involuting Congenital Hemangioma	Hepatic hemangioma, Thrombocytopenia	ORPHA:141179
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia	OMIM:619523
Sweet Syndrome	Abnormal circulating interleukin concentration, Inflammation of the large intestine, Acne inversa...	ORPHA:3243
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Atopic dermatitis, Gastroesophageal reflux, Increased circulating IgE level, Eosinophilic infiltr...	OMIM:620532
Immunodeficiency 68	Lymphadenitis, Abscess, B lymphocytopenia, Abnormal natural killer cell count, T lymphocytopenia	OMIM:612260
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level, Episodic vomiting, Gastrostomy tube feeding in infancy	OMIM:618973
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Anisocytos...	OMIM:301310
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Increased circulating IgA level, Glomerulonephritis, Thrombocytopenia	OMIM:314000
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Congenital Disorder Of Glycosylation, Type Iik	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614727
T-Cell Immunodeficiency With Thymic Aplasia	Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Diarrhea, Eczematoid dermat...	ORPHA:83471
Rhabdoid Tumor	Anemia, Neoplasm of the liver, Lymphadenopathy, Thrombocytopenia	ORPHA:69077
Fetal Parvovirus Syndrome	Anemia, Thrombocytopenia	ORPHA:295
Immunodeficiency With Hyper-Igm, Type 4	Absence of lymph node germinal center, Osteomyelitis, Recurrent infection of the gastrointestinal...	OMIM:608184
Eosinophilic Gastroenteritis	Hypoalbuminemia, Allergic rhinitis, Protein-losing enteropathy, Diarrhea, Hematochezia, Vomiting,...	ORPHA:2070
Bone Marrow Failure Syndrome 6	Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp...	OMIM:618849
Orotic Aciduria	Folate-unresponsive megaloblastic anemia, Failure to thrive, Impaired T cell function, Anisocytos...	OMIM:258900
Neonatal Lupus Erythematosus	Hepatic failure, Elevated circulating hepatic transaminase concentration, Aplastic anemia, Pancyt...	ORPHA:398124
Igg4-Related Aortitis	Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat...	ORPHA:449400
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Pneumonia, Abnormal T cell count, Diarrhea, Panhypogammaglobulinemia, Recurrent otitis media, Pyo...	OMIM:307200
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Diffuse Neonatal Hemangiomatosis	Anemia, Hepatomegaly, Thrombocytopenia	ORPHA:2123
Macrocephaly/Autism Syndrome	Recurrent otitis media, Lymphopenia, Obesity, Large for gestational age, Splenomegaly, Hepatomega...	OMIM:605309
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Diarrhea, Microangiopathic hemolytic anemia, Abdominal pain, Unconjugated hyperbilirubinemia, Dys...	ORPHA:90038
Immunodeficiency 23	Allergic rhinitis, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Failure to thrive, I...	OMIM:615816
Forsythe-Wakeling Syndrome	Thrombocytopenia	OMIM:613606
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased circulating IgG level, Failure to thrive, Decreased circulating IgA level, Recurrent ap...	ORPHA:275
Rapidly Involuting Congenital Hemangioma	Hepatic hemangioma, Thrombocytopenia	ORPHA:141184
Immunodeficiency, Common Variable, 10	Decreased circulating IgG level, Recurrent pneumonia, Frequent Giardia lamblia infestation, Recur...	OMIM:615577
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hematochezia, Inflammation of the large intestine, Hepatic fibrosis, Lymphadenitis, Eczematoid de...	OMIM:615895
Schimke Immuno-Osseous Dysplasia	Bone marrow hypocellularity, Minimal change glomerulonephritis, Abdominal distention, Abnormal pr...	ORPHA:1830
Brucellosis	Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Weight loss, Glomerulonephri...	ORPHA:1304
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ...	OMIM:187800
Immunodeficiency 13	Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp...	OMIM:615518
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Decreased circulating antibody level, Leukocytosis, Splenomegaly, Intraalveolar phospholipid accu...	OMIM:618042
Lissencephaly Syndrome, Norman-Roberts Type	Hypoplastic spleen	ORPHA:89844
Sting-Associated Vasculopathy, Infantile-Onset	Pustular rash, Failure to thrive, Lymphopenia, Leukopenia, Malar rash, Skin rash, Follicular hype...	OMIM:615934
Amed Syndrome, Digenic	Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia	OMIM:619151
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Eczematoid dermatitis,...	OMIM:242700
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Hepatomegaly, Reduced natural killer cell act...	OMIM:603553
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Minimal change glomerulonephritis, Hematochezia, Intraalveolar phospholipid accumulation, Eczemat...	OMIM:620565
Wilson Disease	Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Acute ...	ORPHA:905
Autoinflammation With Arthritis And Dyskeratosis	Failure to thrive, Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Punctate keratit...	OMIM:617388
Fetal Cytomegalovirus Syndrome	Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Hepatomegaly, T...	ORPHA:294
Hemochromatosis, Type 3	Elevated circulating hepatic transaminase concentration, Lymphopenia, Cirrhosis, Neutropenia, Anemia	OMIM:604250
Whipple Disease	Gastrointestinal hemorrhage, Diarrhea, Uveitis, Malabsorption, Splenomegaly, Infectious encephali...	ORPHA:3452
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega...	OMIM:237800
Monocyte Chemotactic Disorder	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:252250
Immunodeficiency 59 And Hypoglycemia	Arteritis, Acne inversa, Herpes simplex encephalitis, Recurrent aphthous stomatitis, Malabsorptio...	OMIM:233600
Tafro Syndrome	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, ...	ORPHA:457077
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated circulating hepatic transaminase concentration, Brain abscess, Abnormal lymph node morph...	ORPHA:54251
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Oral leukoplak...	OMIM:619767
Idiopathic Chronic Eosinophilic Pneumonia	Atopic dermatitis, Increased circulating IgE level, Hypereosinophilia, Leukocytosis, Abnormality ...	ORPHA:2902
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Refractory Celiac Disease	Inflammatory abnormality of the skin, Microcytic anemia, Hypophosphatemia, Weight loss, Abdominal...	ORPHA:398063
Inflammatory Pseudotumor Of The Liver	Vomiting, Elevated circulating aspartate aminotransferase concentration, Increased hepatitis B vi...	ORPHA:90003
Lysosomal Acid Lipase Deficiency	Diarrhea, Hepatosplenomegaly, Hypersplenism, Nausea and vomiting, Fatal liver failure in infancy,...	ORPHA:275761
Fanconi Anemia, Complementation Group T	Bone marrow hypocellularity, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia	OMIM:616435
Spastic Ataxia-Corneal Dystrophy Syndrome	Decreased circulating antibody level	ORPHA:2572
Schimke Immunoosseous Dysplasia	Bilateral cryptorchidism, Lymphopenia, Pancytopenia, Abnormal T cell morphology, Intrauterine gro...	OMIM:242900
Aregenerative Anemia	Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A...	ORPHA:101096
Thrombocytopenia 9	Abnormal platelet aggregation, Thrombocytopenia	OMIM:620478
Bone Marrow Failure Syndrome 5	Growth delay, Oral leukoplakia, Erythroid hypoplasia, Anemia, Pure red cell aplasia, Decreased ci...	OMIM:618165
Hemochromatosis, Neonatal	Hepatic fibrosis, Hepatic failure, Hepatocellular necrosis, Cholestasis, Cirrhosis, Prolonged neo...	OMIM:231100
Osteopetrosis, Autosomal Recessive 2	Mandibular osteomyelitis, Extramedullary hematopoiesis, Osteomyelitis, Hepatosplenomegaly, Pancyt...	OMIM:259710
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Celiac ...	ORPHA:183675
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Erythema nodosum, Elevated...	OMIM:615688
Trichothiodystrophy 3, Photosensitive	Meckel diverticulum, Failure to thrive, Bilateral cryptorchidism, Lymphopenia, Intrauterine growt...	OMIM:616395
Angiostrongyliasis	Vomiting, Hypereosinophilia, Increased circulating specific IgE antibody, Nausea, Abdominal pain,...	ORPHA:74
Masp2 Deficiency	Reduced circulating complement concentration, Recurrent pneumonia, Ulcerative colitis	OMIM:613791
Zika Virus Disease	Myelitis, Vomiting, Intrauterine growth retardation, Skin rash, Maculopapular exanthema, Infectio...	ORPHA:448237
Infection-Related Hemolytic Uremic Syndrome	Diarrhea, Abdominal pain, Hyperkalemia, Intestinal perforation, Abnormal circulating chemokine co...	ORPHA:544482
Systemic Mastocytosis With Associated Hematologic Neoplasm	Diarrhea, Chronic lymphatic leukemia, Acute myeloid leukemia, Weight loss, Neutrophilia, Hepatome...	ORPHA:98849
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur...	ORPHA:508533
Hyper-Igd Syndrome	Diarrhea, Lymphadenitis, Vomiting, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Skin rash, Inc...	OMIM:260920
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog...	ORPHA:3202
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Intestinal pseudo-obstruction, Malnutrition, Slender build, Malabsorption, Gastrointestinal dysmo...	OMIM:613662
Congenital Rubella Syndrome	Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Jaundice	ORPHA:290
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Acute he...	OMIM:619644
Aicardi-Goutieres Syndrome 5	Thrombocytopenia, Feeding difficulties in infancy, Chilblains, Increased circulating interferon-g...	OMIM:612952
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous abscess, Chronic mucocut...	OMIM:618282
Cystic Echinococcosis	Cholestatic liver disease, Peritoneal abscess, Elevated circulating hepatic transaminase concentr...	ORPHA:400
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume	ORPHA:494444
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Roch-Leri Mesosomatous Lipomatosis	Thrombocytopenia	ORPHA:529
3-Methylglutaconic Aciduria Type 4	Decreased liver function, Thrombocytopenia	ORPHA:67048
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Disproportionate short stature, Lymphopenia, Hepatic cysts, Eosinophilia, Erythroderma, Anal atre...	OMIM:617425
Felty Syndrome	Bone marrow hypocellularity, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly, Lymphade...	ORPHA:47612
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Anemia, Lymphopenia, Portal hypertension, Thrombocytopenia	OMIM:620365
Sickle Cell Anemia	Splenic infarction, Cholelithiasis, Hypochromic anemia, Increased mean corpuscular volume, Pigmen...	ORPHA:232
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Hypohomocysteinemia, Growth delay, Failure to thrive, Hypocystinemia, Decreased circulating IgA l...	OMIM:617744
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Hepatic failure, Increased mean corpuscular volume, Po...	OMIM:620367
Thrombocytopenia 5	Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,...	OMIM:616216
Immunodeficiency 55	Lymphopenia, Absent natural killer cells, Lymphadenopathy, Neutropenia	OMIM:617827
Coproporphyria, Hereditary	Vomiting, Diarrhea, Increased fecal coproporphyrin 3, Splenomegaly, Increased fecal coproporphyri...	OMIM:121300
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Increased mean corpuscular volume, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Hepatome...	OMIM:613839
Cog7-Cdg	Diarrhea, Elevated circulating hepatic transaminase concentration, Failure to thrive, Postnatal g...	ORPHA:79333
Netherton Syndrome	Allergic rhinitis, Decreased circulating IgG level, Eczematoid dermatitis, Failure to thrive, Inc...	OMIM:256500
Phosphoglycerate Dehydrogenase Deficiency	Megaloblastic anemia, Thrombocytopenia	OMIM:601815
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Thrombocy...	OMIM:155100
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Neutropenia, Megaloblastic anemia, Thrombocytopenia	OMIM:598500
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Diarrhea, Cholestasis, Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperbilirubi...	ORPHA:247598
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Decreased circulating IgA level, Macronodular cirrhosis, Abnormal T cell morphology, Short statur...	OMIM:215250
Bleeding Disorder, Platelet-Type, 22	Gastrointestinal hemorrhage, Impaired arachidonic acid-induced platelet aggregation, Impaired ADP...	OMIM:618462
Lead Poisoning	Abnormality of humoral immunity, Vomiting, Abdominal distention, Small for gestational age, Imbal...	ORPHA:330015
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Gastroesophageal reflux, Hepatitis, Failure to thrive in infancy, Decreased circulating IgA level...	OMIM:613385
Smith-Kingsmore Syndrome	Rhizomelia, Decreased circulating IgA level, Large for gestational age, Cryptorchidism, Thrombocy...	OMIM:616638
Congenital Syphilis	Pneumonia, Diarrhea, Keratitis, Extramedullary hematopoiesis, Hepatosplenomegaly, Malabsorption, ...	ORPHA:499009
Fetal Gaucher Disease	Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly	ORPHA:85212
Osteopetrosis, Autosomal Recessive 5	Hepatic failure, Growth delay, Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Le...	OMIM:259720
Immunodeficiency With Hyper-Igm, Type 5	Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb...	OMIM:608106
Noonan Syndrome 12	Lymphopenia, Thrombocytopenia	OMIM:618624
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia

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