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Gene: Bmf MGI:2176433

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
BCL2 modifying factor
Synonyms:
N/A

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 Bmf 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.

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, B-cell lym... OMIM:619924
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Lymphoproliferative disorder, Decreased CD4:CD8 rat... OMIM:615897
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... OMIM:618982
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Hodgkin lymphoma, Polyclonal elevatio... OMIM:236000
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased c... OMIM:615513
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly OMIM:606445
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Lymphoma, Polyclonal elevation of IgM... OMIM:153600
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy OMIM:183350
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia OMIM:615615
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Lymphoproliferative Syndrome 3
Lymphoproliferative disorder, Hodgkin lymphoma, Hepatosplenomegaly, Lymphadenopathy, Decreased ci... OMIM:618261
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti... OMIM:620282
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... OMIM:606843
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Abnor... OMIM:212050
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Lymphoproliferative disorder, Autoimmune thrombocyt... OMIM:614470
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly, Anemia ORPHA:294
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia, B-cell lymphoma OMIM:619437
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro... OMIM:618944
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia, Myelodysplasia OMIM:162830
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Follicul... OMIM:619846
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, Decreased circulating total IgM, B lymphocytopenia, Abnormally low T ce... OMIM:618987
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... OMIM:619220
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Lymphoproliferative disorder, B-cell lymphoma, Auto... OMIM:300853
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, I... OMIM:603909
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level, Lymphoproliferative disorder OMIM:242880
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibod... ORPHA:100024
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Immunodeficiency 50
Lymphopenia, Neutropenia, Decreased circulating antibody level OMIM:300988
Meacham Syndrome
Hypoplasia of penis, Cryptorchidism, Abnormality of the spleen, Patent ductus arteriosus, Hydrome... ORPHA:3097
Reticular Dysgenesis
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... OMIM:267500
Immunodeficiency 95
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin level, Increased ... ORPHA:98813
Vaginal Atresia
Cervicitis, Vaginal hematocele, Abdominal mass, Pelvic mass, Transverse vaginal septum, Uterus di... ORPHA:65681
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, B-cell lymphoma, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increas... OMIM:616005
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absence of lymph node germinal center, Increased circulating IgE level, Lack of T cell function, ... ORPHA:277
Kimura Disease
Eosinophilia, Follicular hyperplasia, Increased circulating IgE level, Lymphadenopathy, Abnormal ... ORPHA:482
Immunodeficiency 62
Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Decreased circulating total ... OMIM:618459
Immunodeficiency 48
Absence of CD8-positive T cells, Hepatomegaly, Panhypogammaglobulinemia, Splenomegaly OMIM:269840
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Bardet-Biedl Syndrome 12
Hypogonadism, Abdominal mass, Vaginal atresia, Hydrometrocolpos OMIM:615989
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level OMIM:247800
Renal, Genital, And Middle Ear Anomalies
Vaginal atresia OMIM:267400
Immunodeficiency 75 With Lymphoproliferation
Follicular hyperplasia, Lymphoma, Hepatosplenomegaly, Decreased proportion of class-switched memo... OMIM:619126
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, I... OMIM:601859
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell ac... OMIM:308240
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati... OMIM:613500
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Increased circulati... OMIM:615285
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... OMIM:613501
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level OMIM:616873
Autoinflammatory Disease, Familial, Behcet-Like 3
Vaginal mucosal ulceration OMIM:618287
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Decreased circulating IgG level, Increased... OMIM:615767
Immunodeficiency, Common Variable, 1
Hepatomegaly, Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil a... OMIM:607594
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... OMIM:619707
Activated Pi3K-Delta Syndrome
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphoma, Lymphadenopathy, Decreased circulati... ORPHA:397596
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... OMIM:615206
Immunodeficiency 76
B-cell lymphoma, Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Schnitzler Syndrome
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphoma, Lymphadenopathy, Increased circulating IgM le... ORPHA:37748
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Increased circulating IgG level,... OMIM:209950
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Reduced natural killer ... OMIM:300400
Immunodeficiency, Common Variable, 7
Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par... OMIM:614699
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat... OMIM:617241
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Refractory anemia with ringed siderob... OMIM:133180
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Increased circulating I... OMIM:618495
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decreased proportion ... ORPHA:169154
Cernunnos-Xlf Deficiency
Thrombocytopenia, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Lym... ORPHA:169079
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni... OMIM:612692
Mckusick-Kaufman Syndrome
Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, Rectovaginal fistula, Vesicovaginal ... OMIM:236700
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia ORPHA:231393
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Inc... OMIM:602450
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t... OMIM:611926
Hypereosinophilic Syndrome, Idiopathic
Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder OMIM:607685
Bardet-Biedl Syndrome 6
Vaginal atresia, Hypospadias, External genital hypoplasia OMIM:605231
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... OMIM:613493
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Immunodeficiency 70
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... OMIM:618969
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:618204
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... OMIM:202700
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... ORPHA:859
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec... OMIM:613502
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli... OMIM:615592
Alpha-Heavy Chain Disease
Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphoma, Lymphadenopathy, Ascites, Anemia ORPHA:100025
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidism, Pulmonary lymphangiectas... ORPHA:1655
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas... OMIM:605258
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Hepatosplenomegaly, Abnormal natural killer cell physiology, Decreased circulating ... OMIM:613101
Hemophagocytic Lymphohistiocytosis, Familial, 3
Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia OMIM:608898
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia OMIM:615214
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... OMIM:610163
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy, Mastocytosis, Sarcoma ORPHA:66661
Combined Immunodeficiency Due To Dock8 Deficiency
Increased circulating IgE level, Squamous cell carcinoma, T lymphocytopenia, Squamous cell carcin... ORPHA:217390
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis, Decreased circulating antibody level OMIM:618042
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... OMIM:617765
Immunodeficiency 104
Splenomegaly, Hepatomegaly, T lymphocytopenia, Lymphadenopathy OMIM:608971
Autoimmune Lymphoproliferative Syndrome
Non-Hodgkin lymphoma, Increased circulating IgG level, Thyroid carcinoma, Lymphocytosis, Increase... ORPHA:3261
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Patent ductus arteriosus, Abnormal vagina morphology, Anemia, Ascites, Thrombocytop... ORPHA:2123
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased... OMIM:618394
Immunodeficiency 102
Hepatomegaly, Increased circulating interleukin 6 concentration, Partial absence of specific anti... OMIM:301082
Mantle Cell Lymphoma
Splenomegaly, B-cell lymphoma, Lymphadenopathy ORPHA:52416
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia ORPHA:46532
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas... OMIM:608106
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Lymphopenia, Autoimmune hemolytic ane... ORPHA:331206
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Decreased circulating total IgM... OMIM:619281
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Lymphoproliferative disorder, Splenomegaly, Lymphoma... OMIM:615122
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato... OMIM:308230
Immunodeficiency, Common Variable, 2
Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Lymphoma, Lymphaden... OMIM:240500
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Decreased sp... OMIM:617006
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Abnormal circulating IgM level, Increased circulating IgA level, Lymphad... OMIM:618048
Immunodeficiency 16
Splenomegaly, Pancytopenia, Kaposi's sarcoma, Coombs-positive hemolytic anemia OMIM:615593
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Hydrometrocolpos, Vaginal atresia OMIM:617088
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Lymphopenia, Decreased proportion of naive T cells, Lymphoproliferative disorder, A... ORPHA:276
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:312863
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, B-cell lym... OMIM:613011
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Abnormally low T cell receptor excision circle leve... OMIM:619374
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
Renal Hypodysplasia/Aplasia 1
Bicornuate uterus, Vaginal atresia OMIM:191830
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of ... ORPHA:75564
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... OMIM:619375
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Lymphopenia, Hepatomegaly, Splenomegaly, Decreased circulating total IgM, Leukopenia, Decreased c... OMIM:620210
Whim Syndrome 1
Decreased circulating IgG level, Neutropenia, Verrucae, Decreased circulating antibody level OMIM:193670
Trimethylaminuria
Splenomegaly, Anemia, Neutropenia OMIM:602079
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... OMIM:301078
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ... OMIM:619802
Mckusick-Kaufman Syndrome
Cryptorchidism, Patent ductus arteriosus, Hydrometrocolpos, Glandular hypospadias, Urogenital sin... ORPHA:2473
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par... OMIM:618108
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I... OMIM:150550
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis OMIM:269600
Congenital Disorder Of Glycosylation, Type Iir
Decreased proportion of CD4-positive T cells, Hepatomegaly, Jaundice, Micronodular cirrhosis, Dec... OMIM:301045
Autoinflammatory Disease, Systemic, X-Linked
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:301081
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Decreased circulating antib... OMIM:300635
Thrombocythemia 1
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... OMIM:187950
Immunodeficiency 43
Decreased specific antibody response to polysaccharide vaccine, Lung abscess, Abnormal circulatin... OMIM:241600
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... OMIM:614493
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Squamous cell carcinoma, Prostate cancer, Neutropenia, B-cell lymphoma, Myelodysplasia, T-cell ly... ORPHA:158057
Immunodeficiency 11B With Atopic Dermatitis
Decreased circulating total IgM, Increased circulating IgE level, Eosinophilia OMIM:617638
Alpha-Thalassemia-Myelodysplastic Syndrome
Myelodysplasia, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thr... ORPHA:231401
Sézary Syndrome
Hepatomegaly, Cutaneous T-cell lymphoma, Abnormal immunoglobulin level, Splenomegaly, Lymphoma, L... ORPHA:3162
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphopenia, Generalized lymphadenopathy, P... OMIM:618986
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Lymphopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly... OMIM:616100
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ... OMIM:619705
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, B lymphocytopenia, Panhypogammaglobulinemia OMIM:601457
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Lymphangiectasia, Intestinal
Lymphopenia, Intestinal lymphangiectasia, Decreased circulating IgG level OMIM:152800
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Vaginal fistula ORPHA:2597
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Eosinophilia, Hepatitis, Hepatosplenomegaly, Increased circulating antibody level, D... ORPHA:169160
Immunodeficiency 92
Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S... OMIM:619652
Microcephaly 20, Primary, Autosomal Recessive
Hypoplasia of the uterus, Vaginal atresia OMIM:617914
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs... OMIM:226990
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Meckel Syndrome 12
Hypoplasia of the uterus, Vaginal atresia OMIM:616258
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Neutropenia, Monocytopen... ORPHA:2688
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... OMIM:606367
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Increased circulating IgA level OMIM:314000
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
Immunodeficiency 85 And Autoimmunity
Lymphopenia, Decreased circulating total IgM, T lymphocytopenia, Decreased circulating IgE, Decre... OMIM:619510
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... ORPHA:86843
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopenia, Decreas... OMIM:614069
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Hepatomegaly, Severe B lymphocytopenia, Lymphopenia, Aplasia o... OMIM:102700
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... OMIM:603552
Indolent Systemic Mastocytosis
Hepatomegaly, Hematological neoplasm, Splenomegaly, Lymphadenopathy, Increased proportion of CD25... ORPHA:98848
Familial Supernumerary Nipples
Supernumerary nipple ORPHA:2456
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Anemia, Lymphadenopathy ORPHA:158014
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Thrombocytopenia, Splenomegaly, Lymph... ORPHA:507
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology, Septate vagina, Uterus didelphys, Aplasia of the uterus, Vagina... ORPHA:2237
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Increased circulating IgE level, Decreased circulating total IgM, Cutaneous abscess,... OMIM:619752
Reticular Dysgenesis
Abnormality of neutrophils, Decreased circulating antibody level, Leukopenia, Aplasia/Hypoplasia ... ORPHA:33355
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Myelodysplasia, Decreased circulating antibody level, Bone marrow hypocellularity, ... OMIM:619767
Niemann-Pick Disease, Type B
Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia OMIM:607616
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Hydrocolpos, Uterus didelphys, Partial vaginal septum, Abnormal uterine cervix morphology ORPHA:3411
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, B-cell lymphoma, Splenomegaly, Lymphoma, Breast carcinoma, Lymphadenopathy ORPHA:86893
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Increased circulating IgE level, Squamous cell carcinoma, Increased circulating IgG... OMIM:243700
Classic Mycosis Fungoides
Hepatomegaly, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm of the... ORPHA:2584
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease... OMIM:600802
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Myelodysplasia, Microcytic anemia, Hypersplenism, Splenome... ORPHA:846
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereo... OMIM:617388
Immunodeficiency 46
Anemia, Neutropenia, Intermittent thrombocytopenia, Decreased circulating antibody level OMIM:616740
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells OMIM:619693
Bone Marrow Failure Syndrome 4
Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocyt... OMIM:618116
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hypoplastic labia majora, Vaginal atresia, Fused labia minora OMIM:207410
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Gray Platelet Syndrome
Splenomegaly, Myelodysplasia, Thrombocytopenia ORPHA:721
Immunodeficiency 67
Transient neutropenia, Increased circulating IgE level, Liver abscess OMIM:607676
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in... OMIM:619313
Hypomelia With Mullerian Duct Anomalies
Uterus didelphys, Longitudinal vaginal septum OMIM:146160
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Abnormal va... OMIM:194072
Boutonneuse Fever
Cervical lymphadenopathy, Lymphadenopathy, Increased circulating IgG level, Increased circulating... ORPHA:83313
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Hypoplasia of the ... ORPHA:168563
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa... ORPHA:3226
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Increased circulating IgA level, Leukocytosis, Lymphadenopathy, Increased circulati... OMIM:617099
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... ORPHA:35078
Bardet-Biedl Syndrome 1
Decreased testicular size, Biliary tract abnormality, Hepatic fibrosis, Hypogonadism, Vaginal atr... OMIM:209900
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Decreased circulating antibody level ORPHA:1116
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Vaginal atresia ORPHA:3301
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Increased circulating IgE level, Eosinophilia OMIM:618523
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Immunodeficiency 21
Aplastic anemia, Myelodysplasia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropen... OMIM:614172
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... OMIM:612840
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Lymphadenitis, Splenomegaly, Rec... OMIM:618935
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Reduced natural killer cell activity, Splenomegaly, Anemia, Reduced natural killer ... OMIM:616050
Ghosal Hematodiaphyseal Dysplasia
Splenomegaly, Anemia ORPHA:1802
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Hepatomegaly, Fetal ascites OMIM:619462
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Leukocytosis, Lymphadenopathy OMIM:611762
Tetraamelia Syndrome 1
Asplenia, Hypoplasia of the fallopian tube, Vaginal atresia, Absent external genitalia OMIM:273395
Immunodeficiency 54
Hepatomegaly, Lymphoproliferative disorder, Splenomegaly, Lymphadenopathy, Adrenocorticotropic ho... OMIM:609981
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Eosinophilia, Cutaneous abscess OMIM:147060
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Decreased... OMIM:617780
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology OMIM:615617
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... OMIM:242700
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Hepatocellular carcinoma ORPHA:882
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Impaired T cell function, Pure red cell aplasia, Autoimmune thromboc... OMIM:613179
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:610539
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Abnormality of the uterus, Abnormal vagina morph... ORPHA:2975
Peeling Skin Syndrome 1
Increased circulating IgE level, Eosinophilia OMIM:270300
Hyper-Igd Syndrome
Neutrophilia, Increased circulating IgA level, Lymphadenitis, Leukocytosis, Splenomegaly, Hepatos... OMIM:260920
Ring Chromosome Y Syndrome
Bifid scrotum, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral cryptorchidism, Cryptor... ORPHA:261529
Griscelli Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Decreased circulatin... ORPHA:381
Tularemia
Brain abscess, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Mediastinal lymphadenopa... ORPHA:3392
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T cell pr... OMIM:619774
Manitoba Oculotrichoanal Syndrome
Vaginal atresia OMIM:248450
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hypogonadism, Cirrhosis, Anemia OMIM:613313
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly ORPHA:417
Hypertriglyceridemia, Transient Infantile
Splenomegaly, Hepatomegaly, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Jaundice ORPHA:79238
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Lymp... OMIM:614700
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Neoplasm ORPHA:172
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp... ORPHA:436159
Aicardi-Goutieres Syndrome 6
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly OMIM:615010
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Increased circulating IgE level, Hep... OMIM:304790
Ataxia-Telangiectasia
Abnormal testis morphology, Decreased circulating antibody level, Polycystic ovaries, Neoplasm, L... ORPHA:100
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Immunodeficiency 68
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count OMIM:612260
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Bifid scrotum, Cryptorchidism, Glandular hypospadias, Blind vagina, Micropenis, Penile hypospadia... ORPHA:456328
Pallister-Hall Syndrome
Small scrotum, Hypospadias, Precocious puberty, Cryptorchidism, Patent ductus arteriosus, Hydrome... ORPHA:672
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Galactosemia Iii
Splenomegaly, Hepatomegaly, Jaundice OMIM:230350
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia ORPHA:158029
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased proportion of class-switched memory B cells, Decreased... OMIM:614878
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... OMIM:615387
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Hematological neop... ORPHA:824
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Classic Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm, Bone marrow hypocellularity ORPHA:391
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphoma, Lymphadenopathy ORPHA:545
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Poikilo... OMIM:615234
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Chilblain Lupus
Increased circulating antibody level, Chronic myelomonocytic leukemia ORPHA:90280
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Bifid scrotum, Hypoplasia of penis, Small scrotum, Cryptorchidism, Perineal hypospadias, Ambiguou... ORPHA:753
Primary Intestinal Lymphangiectasia
Lymphopenia, Peritoneal effusion, Disseminated cutaneous warts, Decreased circulating antibody le... ORPHA:90362
Cholestasis, Progressive Familial Intrahepatic, 12
Splenomegaly, Hepatomegaly, Jaundice, Cholestasis OMIM:620010
Igg4-Related Aortitis
Increased circulating IgG4 level, Increased circulating IgE level, Hypereosinophilia, Increased c... ORPHA:449400
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node... ORPHA:79124
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Increased circulating IgE level, Decreased circulating IgA level, Cutaneous abscess... OMIM:618282
Tempi Syndrome
Increased circulating IgG level, Increased hematocrit, Hemangioma, Ascites, Polycythemia ORPHA:284227
Androgen Insensitivity Syndrome
Female external genitalia in individual with 46,XY karyotype, Blind vagina, Labial hypoplasia OMIM:300068
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Ascites OMIM:269920
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... OMIM:616084
Dyskeratosis Congenita, Autosomal Recessive 5
Leukopenia, Bone marrow hypocellularity, Decreased circulating antibody level OMIM:615190
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites OMIM:271500
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612126
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Increased circulating IgM level, Reduced natural killer cell count, T lymphocytopenia, Decreased ... OMIM:242860
Agammaglobulinemia 1, Autosomal Recessive
Decreased circulating antibody level, Agammaglobulinemia, B lymphocytopenia, Rectal abscess, Neut... OMIM:601495
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmune hemolytic anemia, Chronic hepatitis due to cryptosporidium infection, Ab... ORPHA:572
Macrophage Activation Syndrome
Hepatomegaly, Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis fa... ORPHA:158061
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Hepatomegaly, Portal hypertension OMIM:617068
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Myelodysplas... ORPHA:98849
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Common Variable Immunodeficiency
Hemolytic anemia, Autoimmune thrombocytopenia, Gastrointestinal stroma tumor, Splenomegaly, Lymph... ORPHA:1572
X-Linked Sideroblastic Anemia
Splenomegaly, Anemia ORPHA:75563
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Sting-Associated Vasculopathy, Infantile-Onset
Increased circulating IgA level, Follicular hyperplasia, Paratracheal lymphadenopathy, Increased ... OMIM:615934
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina OMIM:277000
Apert Syndrome
Cryptorchidism, Vaginal atresia OMIM:101200
Igg4-Related Submandibular Gland Disease
Cholangitis, Increased circulating IgG4 level, Eosinophilia, Retroperitoneal fibrosis, Increased ... ORPHA:449432
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia ORPHA:79477
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... OMIM:615952
Pgm3-Cdg
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Increased circulatin... ORPHA:443811
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Splenomegaly, Hemophagocytosis, Subcutaneous panniculitis-like T-cell lymphoma, Anemia OMIM:618398
Idiopathic Chronic Eosinophilic Pneumonia
Leukocytosis, Increased circulating IgE level, Hypereosinophilia ORPHA:2902
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Trichothiodystrophy 3, Photosensitive
Increased circulating IgA level, Bilateral cryptorchidism, Abdominal adhesions, Neoplasm of the s... OMIM:616395
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Macrocephaly/Autism Syndrome
Hepatomegaly, Splenomegaly, Decreased circulating antibody level, Hydrocele testis, Lymphopenia OMIM:605309
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Neonatal cholestatic ... ORPHA:79301
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Increased circulating interleukin 6 concentration, Reduced natural killer cell acti... ORPHA:540
Babesiosis
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Leukopenia, Thrombocytopenia ORPHA:108
Iga Pemphigus
Eosinophilia, Cutaneous abscess, Monoclonal elevation of circulating IgA, Increased circulating I... ORPHA:555905
Good Syndrome
Abnormal leukocyte morphology, Mediastinal lymphadenopathy, Thrombocytopenia, Thymoma, Decreased ... ORPHA:169105
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Thrombocytopenia, Splenomegaly, Lymphadenopathy, Increased circulating antibody lev... OMIM:617591
Trichorhinophalangeal Syndrome, Type Ii
Bilateral cryptorchidism, Hydrometrocolpos, Right ventricular hypertrophy OMIM:150230
Omenn Syndrome
Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphoma, Lymphadenopathy, Abnormal lymph... ORPHA:39041
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, Decreased circulating antibody level, Fib... OMIM:619750
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Immunodeficiency 22
Decreased circulating IgG level, Abscess, Thrombocytopenia, Decreased circulating total IgM, Decr... OMIM:615758
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia OMIM:610333
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Hepatomegaly, Hyperparathyroidism, Anemia OMIM:618107
Immunodeficiency 23
Hemolytic anemia, Eosinophilia, Abscess, Increased circulating IgE level, Hodgkin lymphoma, Incre... OMIM:615816
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Hypospadias, Splenomegaly, Ascites, Anemia ORPHA:1046
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis OMIM:619658
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne... OMIM:300908
Hemochromatosis, Type 2A
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Azoospermia, Cirrhosis OMIM:602390
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... ORPHA:251510
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Hepatoportal Sclerosis
Portal hypertension, Nodular regenerative hyperplasia of liver, Portal vein thrombosis, Hypersple... ORPHA:64743
Autoimmune Hepatitis
Viral hepatitis, Acute hepatitis, Splenomegaly, Fulminant hepatitis, Jaundice, Increased circulat... ORPHA:2137
Essential Thrombocythemia
Splenomegaly, Myelodysplasia, Abnormal platelet morphology, Acute leukemia ORPHA:3318
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia OMIM:615085
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Hepatic cysts, Eosinophilia, Abscess, Abnormality o... ORPHA:400
Fraser Syndrome 1
Hypospadias, Cryptorchidism, Abnormal thymus morphology, Bicornuate uterus, Micropenis, Vaginal a... OMIM:219000
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Splenomegaly, Jaundice, Acholic stools, Portal fibrosis OMIM:619868
Camptobrachydactyly
Septate vagina ORPHA:1319
Adult-Onset Still Disease
Hepatomegaly, Neutrophilia, Generalized lymphadenopathy, Splenomegaly, Leukocytosis, Hepatitis, B... ORPHA:829
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Hepatomegaly, Decreased circulating total IgG, Splenomegaly,... OMIM:300972
Myelofibrosis
Splenomegaly, Myeloproliferative disorder OMIM:254450
46,Xy Ovotesticular Difference Of Sex Development
Bifid scrotum, Ambiguous genitalia, True hermaphroditism, Abnormal labia morphology, Fused labia ... ORPHA:325345
Mullerian Aplasia And Hyperandrogenism
Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the... OMIM:158330
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Perianal abscess, Leukocytosis, Increased circulating IgE level, Increased circulating IgG level,... OMIM:618213
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Splenomegaly, Hepatomegaly ORPHA:2204
Camptobrachydactyly
Septate vagina OMIM:114150
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Hypersplenism, Thrombocytopenia, Splenomegaly, Leukopenia, Increased ... ORPHA:77259
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P... ORPHA:90797
Denys-Drash Syndrome
True hermaphroditism, Septate vagina, Gonadal tissue inappropriate for external genitalia or chro... OMIM:194080
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Felty Syndrome
Hepatomegaly, Thrombocytopenia, Splenomegaly, Lymphoma, Lymphadenopathy, Bone marrow hypocellular... ORPHA:47612
Neuraminidase Deficiency
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Ascites OMIM:256550
Complete Androgen Insensitivity Syndrome
Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidism, Blind vagina, ... ORPHA:99429
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosplenomegaly, Cholestatic liver d... OMIM:616828
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop... ORPHA:848
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Splenomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia ORPHA:79312
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Spinocerebellar Ataxia, Autosomal Recessive 21
Splenomegaly, Hepatomegaly, Hepatic bridging fibrosis, Hepatic fibrosis OMIM:616719
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar... OMIM:603903
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Hereditary Orotic Aciduria
Splenomegaly, Patent ductus arteriosus, Impaired T cell function, Anemia ORPHA:30
Harderoporphyria
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice OMIM:618892
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... ORPHA:1414
Amyloidosis, Familial Visceral
Splenomegaly, Hepatomegaly, Cholestasis OMIM:105200
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease OMIM:214900
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... OMIM:243150
Agammaglobulinemia, X-Linked
Hepatocellular carcinoma, Enteroviral hepatitis, Agammaglobulinemia, Decreased circulating total ... OMIM:300755
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Gaucher Disease, Type Iii
Splenomegaly, Hepatomegaly, Pancytopenia, Thrombocytopenia OMIM:231000
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Johanson-Blizzard Syndrome
Hypoplasia of penis, Hypospadias, Abnormality of the pancreas, Abnormal vagina morphology, Abnorm... ORPHA:2315
Fraser Syndrome
Hypoplasia of penis, Small scrotum, Hypospadias, Cryptorchidism, Bicornuate uterus, Ambiguous gen... ORPHA:2052
Thymoma
Aplastic anemia, Pure red cell aplasia, Abnormal lymphocyte physiology, Abnormal lymphocyte proli... ORPHA:99867
Alpha-1-Antitrypsin Deficiency
Splenomegaly, Cirrhosis, Hepatocellular carcinoma OMIM:613490
Wolman Disease
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Anemia ORPHA:75233
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia, Decreased circulating antibody level OMIM:616576
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Pyoderma Gangrenosum
Myeloid leukemia, Increased circulating antibody level, Myelodysplasia ORPHA:48104
Pfapa Syndrome
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:42642
Angiostrongyliasis
Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ... ORPHA:74
Beta-Thalassemia Intermedia
Hypoparathyroidism, Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia... ORPHA:231222
Netherton Syndrome
Decreased circulating IgG level, Hypereosinophilia, Increased circulating IgE level OMIM:256500
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat... OMIM:619463
Farber Lipogranulomatosis
Splenomegaly, Hepatomegaly, Lipogranulomatosis OMIM:228000
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Icf Syndrome
Anemia, Lymphopenia, Abnormality of neutrophils, Decreased circulating antibody level ORPHA:2268
Glycogen Storage Disease Ixb
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content OMIM:261750
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Niemann-Pick Disease, Type A
Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenopathy, Sea-blue ... OMIM:257200
Cholesteryl Ester Storage Disease
Splenomegaly, Hepatomegaly, Jaundice, Cirrhosis ORPHA:75234
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Thrombocytopenia, Patent ductus arteriosus, Splenomegaly, Increased circulating IgM... OMIM:617303
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Transcobalamin Ii Deficiency
Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased... OMIM:275350
Meacham Syndrome
Accessory spleen, Septate vagina, Patent ductus arteriosus, Male pseudohermaphroditism, Blind vag... OMIM:608978
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia OMIM:611490
Cholesteryl Ester Storage Disease
Hepatomegaly, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Thrombocytopenia, Splen... OMIM:278000
Cold Agglutinin Disease
Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly ORPHA:56425
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Lymphoproliferative disorder, Splenomegaly, Jaundice, Chronic lympha... ORPHA:90033
Hb Bart'S Hydrops Fetalis
Splenomegaly, Hepatomegaly, Abnormal hemoglobin, Anemia ORPHA:163596
Müllerian Aplasia And Hyperandrogenism
Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary ORPHA:247768
Lipodystrophy, Congenital Generalized, Type 3
Splenomegaly, Hepatomegaly, Hepatic steatosis, Hepatosplenomegaly OMIM:612526
Congenital Rubella Syndrome
Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Jaundice, Anemia, Thrombocytopenia ORPHA:290
Prolidase Deficiency
Hepatomegaly, Splenomegaly, Anemia, Increased circulating antibody level, Prolonged neonatal jaun... OMIM:170100
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Pancytopenia, Reduced natural killer cell activity, Thrombocytopenia, Splenomegaly,... OMIM:603553
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Megaloblastic anemia, Decreased circulating antibody level, Thrombocy... ORPHA:90045
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne... OMIM:233600
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Cholangitis, Biliary tract abnormality, Agammaglobulinemia, Neutropenia, Cutaneo... OMIM:209920
Multiple Myeloma
Increased circulating IgA level, Splenomegaly, Lymphadenopathy, Decreased circulating antibody le... ORPHA:29073
Joubert Syndrome 33
Splenomegaly OMIM:617767
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ... OMIM:139090
Simple Cryoglobulinemia
Viral hepatitis, Monoclonal elevation of circulating IgA, Monoclonal elevation of IgG, B-cell lym... ORPHA:91139
Bone Marrow Failure Syndrome 5
Pure red cell aplasia, Erythroid hypoplasia, Decreased circulating antibody level, Testicular atr... OMIM:618165
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff... OMIM:612714
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... OMIM:233710
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... OMIM:602347
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis ORPHA:66518
Cinca Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal g... ORPHA:1451
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Hepatomegaly, Anemia OMIM:620296
Aspergillosis
Eosinophilia, Hematological neoplasm, Increased circulating IgE level, Hepatitis, Neutropenia ORPHA:1163
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile duct morphology, Increased cir... ORPHA:562639
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... OMIM:224120
Hurler-Scheie Syndrome
Splenomegaly, Hepatomegaly, Abnormality of the tonsils ORPHA:93476
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Cowden Syndrome 1
Subcutaneous lipoma, Fibroadenoma of the breast, Breast carcinoma, Decreased circulating antibody... OMIM:158350
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis OMIM:611804
Ebola Hemorrhagic Fever
Acute pancreatitis, Hepatitis, Leukopenia, Increased circulating antibody level, Lymphopenia, Thr... ORPHA:319218
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... OMIM:233690
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Pancytopenia, Impaired T cell function, Splenomegaly, Patent ductus arteriosus, Dec... OMIM:614576
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis ORPHA:59303
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:79292
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Hermansky-Pudlak Syndrome 2
Hepatomegaly, Absent platelet dense granules, Reduced natural killer cell activity, Splenomegaly,... OMIM:608233
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Clitoral hypertrophy, Thrombocytopenia, Patent ductus arteriosus, Mic... OMIM:606003
Recessive Dystrophic Epidermolysis Bullosa Inversa
Vaginal stricture, Anemia ORPHA:79409
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Thrombocytopenia, Impaired ADP-in... OMIM:153670
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia ORPHA:85212
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Cryoglobulinemia, Abnormality of neutrophils, Splenomegaly, Lymp... ORPHA:33226
Ornithine Transcarbamylase Deficiency
Splenomegaly ORPHA:664
Thrombocytopenia 1
Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet volume,... OMIM:313900
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Abnormal cytokine ... ORPHA:158048
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Aplasia of the uterus, Aplasia of the vagina, Uterus didelphys, Septate vagina OMIM:146255
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Thrombocytopeni... OMIM:214500
46,Xy Sex Reversal 11
Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem... OMIM:273250
Glycogen Storage Disease Ixa1
Splenomegaly, Hepatomegaly OMIM:306000
Neonatal Lupus Erythematosus
Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Splenomegaly, Ch... ORPHA:398124
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgG level, Ane... OMIM:612301
Fixed Drug Eruption
Vaginal mucosal ulceration ORPHA:293812
Oculogastrointestinal Neurodevelopmental Syndrome
Vaginal fistula OMIM:619318
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Pneumocystosis
Neoplasm, Increased circulating antibody level, Abnormal neutrophil count ORPHA:723
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Autosomal Dominant Hyper-Ige Syndrome
Increased circulating IgE level, Eosinophilia, Lymphoma ORPHA:2314
Zika Virus Disease
Increased circulating IgM level, Thrombocytopenia ORPHA:448237
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Multiple myeloma, Thrombocytopenia OMIM:230800
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... OMIM:601847
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
Legionnaires Disease
Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Bone marrow hypocellularity, Lymphopenia, Pan... ORPHA:549
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Decreased circulating antibody level, Iron deficiency anemia, Thrombocytosis, Intes... OMIM:226300
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Pancytopenia, Lymphoproliferative disorder, Portal hypertension, Splenomegaly, Leuk... OMIM:615688
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia ORPHA:90037
Hemochromatosis, Type 1
Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Azoospermia, Cirrhosis, ... OMIM:235200
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... ORPHA:53035
Familial Thrombocytosis
Acute myeloid leukemia, Myelodysplasia, Splenomegaly, Chronic myelogenous leukemia, Thrombocytosis ORPHA:71493
Primary Sclerosing Cholangitis
Hepatomegaly, Cholangiocarcinoma, Abnormal eosinophil morphology, Portal hypertension, Hepatocell... ORPHA:171
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... ORPHA:822
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... OMIM:306400
Alveolar Echinococcosis
Liver abscess, Cholangitis, Portal hypertension, Hepatic cysts, Eosinophilia, Pancreatic cysts, A... ORPHA:284
Schimke Immunoosseous Dysplasia
Pancytopenia, Abnormal immunoglobulin level, Bilateral cryptorchidism, Thrombocytopenia, Abnormal... OMIM:242900
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Enteroviral hepatitis, Panhypogammaglobulinemia, Decreased response to growth hormone stimulation... OMIM:307200
Duplication Of Urethra
Bifid scrotum, Hypospadias, Septate vagina, Epispadias, Coronal hypospadias, Uterus didelphys, Ch... ORPHA:237
Sitosterolemia 1
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly... OMIM:210250
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Splenomegaly, Hepatomegaly, Impaired T cell function, Decreased testicular size OMIM:201100
Diethylstilbestrol Syndrome
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... ORPHA:1916
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... OMIM:211600
Inflammatory Skin And Bowel Disease, Neonatal, 2
Increased circulating IgE level OMIM:616069
Brucellosis
Hepatomegaly, Liver abscess, Lung abscess, Hypersplenism, Thrombocytopenia, Leukocytosis, Splenom... ORPHA:1304
Silver-Russell Syndrome
Abnormality of male external genitalia, Hypospadias, Precocious puberty, Cryptorchidism, Abnormal... ORPHA:813
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content OMIM:613027
Interstitial Cystitis
Abnormal vagina morphology, Abnormal labia morphology ORPHA:37202
Lead Poisoning
Increased circulating IgE level, Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Abn... ORPHA:330015
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... OMIM:300291
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hepatomegaly, Lymphopenia, Decreased proportion of CD8-positive T cells, Increased circulating Ig... ORPHA:508533
Niemann-Pick Disease, Type C1
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Sea-blue histiocytosis, Prolon... OMIM:257220
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Abnormality of the pancreas, Lymphopenia, Anemia ORPHA:935
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy OMIM:619183
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... OMIM:614162
Whim Syndrome
Lymphadenitis, Abnormal neutrophil morphology, Decreased circulating antibody level, Papilloma, C... ORPHA:51636
Cryoglobulinemic Vasculitis
Hepatomegaly, Viral hepatitis, Circulating immune complexes, Splenomegaly, Mediastinal lymphadeno... ORPHA:91138
Mannosidosis, Alpha B, Lysosomal
Splenomegaly, Hepatomegaly, Vacuolated lymphocytes, Decreased circulating antibody level OMIM:248500
Majeed Syndrome
Hepatomegaly, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis, Hypochromic microcytic a... ORPHA:77297
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Decreased circulating total IgG, B-cell lymphoma, Follicul... OMIM:619381
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Autoimmune thrombocytopenia, Biliary cirrhosis, Hepatitis, Decreased circulati... ORPHA:227990
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Neoplasm, Thrombocytopenia ORPHA:169090
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr... ORPHA:168558
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Autoimmune hypoparathyroidism, Autoimmune thrombocytopenia, Biliary cirrhosis,... ORPHA:227982
Dominant Beta-Thalassemia
Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra... ORPHA:231226
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Peritonitis, Lymphadenopathy, Increased circulating IgA level ORPHA:343
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o... ORPHA:325124
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr... ORPHA:289548
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Increased circulating IgE... ORPHA:37042
Igg4-Related Ophthalmic Disease
Eosinophilia, Cholangitis, Increased circulating IgG4 level, Retroperitoneal fibrosis, Orchitis, ... ORPHA:449563
Q Fever
Hepatomegaly, Thrombocytopenia, Splenomegaly, Hepatitis, Hepatosplenomegaly, Lymphadenopathy, Abn... ORPHA:781
Chronic Granulomatous Disease
Hepatomegaly, Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lymphadenopathy ORPHA:379
Igg4-Related Pachymeningitis
Eosinophilia, Increased circulating IgG4 level, Lymphadenitis, Complement deficiency, Pancreatiti... ORPHA:449427
Hand-Foot-Genital Syndrome
Bifid scrotum, Hypospadias, Uterus didelphys, Chordee, Longitudinal vaginal septum, Micropenis OMIM:140000
Bile Acid Synthesis Defect, Congenital, 2
Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis OMIM:235555
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Leukopenia, Hemophagocytosis, Thro... OMIM:267700
Chronic Mucocutaneous Candidiasis
Abnormal vagina morphology, Hepatitis ORPHA:1334
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:85414
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Patent ductu... OMIM:612541
Syndromic Diarrhea
Hepatomegaly, Increased mean platelet volume, Splenomegaly, Patent ductus arteriosus, Abnormality... ORPHA:84064
Gm1-Gangliosidosis, Type Ii
Splenomegaly, Hepatomegaly, Patent ductus arteriosus, Sea-blue histiocytosis OMIM:230600
Adams-Oliver Syndrome 6
Splenomegaly, Hepatic fibrosis, Portal hypertension OMIM:616589
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Patent ductus arteriosus, Vaginal dryness, Hypospadias, Micropenis OMIM:106260
Beta-Thalassemia Major
Hypoparathyroidism, Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemogl... ORPHA:231214
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Decreased circulating complement factor B concentration, Increased circulating ... ORPHA:2298
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... OMIM:208540
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchidism, Ovarian cyst... ORPHA:90793
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Septate vagina, Bicornuate uterus, Rectovaginal fistula, Labial hypoplasia, Clitoral hypertrophy OMIM:300707
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Splenomegaly, Jaundice, Intrahepatic cholestasis, Acholic sto... OMIM:607765
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepatitis, Acholic stools, Bile d... OMIM:613812
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Splenomegaly, Hepatomegaly, Neutrophilia, Abscess OMIM:612852
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Thrombocytopenia, Patent ductus arteriosus, Hepatosplenomegaly, Increased circulating IgM level, ... ORPHA:505248
Currarino Syndrome
Perianal abscess, Bicornuate uterus, Rectovaginal fistula, Septate vagina OMIM:176450
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Lymphadenitis, Leukocytosis, Splenomegaly, Cholestasis, Lymphadenopathy, Hepatic fi... OMIM:615895
Polycythemia Vera
Hepatomegaly, Portal hypertension, Myelodysplasia, Portal vein thrombosis, Splenomegaly, Acute le... ORPHA:729
Toxic Epidermal Necrolysis
Anemia, Neutropenia, Abnormal vagina morphology, Pancreatitis, Thrombocytopenia ORPHA:537
Waardenburg Syndrome
Abnormal vagina morphology, Abnormality of the uterus ORPHA:3440
Kaposiform Lymphangiomatosis
Pancreatic cysts, Splenomegaly, Abnormality of the lymphatic system, Hepatosplenomegaly, Anemia, ... ORPHA:464329
Coccidioidomycosis
Eosinophilia, Abscess, Abnormality of the spleen, Mediastinal lymphadenopathy, Peritonitis, Lymph... ORPHA:228123
Niemann-Pick Disease, Type C2
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Sea-blue histiocytos... OMIM:607625
Igg4-Related Kidney Disease
Eosinophilia, Increased circulating IgG4 level, Retroperitoneal fibrosis, Lymphadenitis, Abnormal... ORPHA:449395
Budd-Chiari Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Cholecystitis, Cirrhosis,... ORPHA:131
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Jaundice, Depletion of m... OMIM:251880
Adams-Oliver Syndrome 5
Portal vein thrombosis, Splenomegaly, Hypersplenism, Cavernous hemangioma, Right ventricular hype... OMIM:616028
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Hepatomegaly, Small scrotum, Hypospadias, Septate vagina, Precocious puberty, Sple... OMIM:270400
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hepatic bridging fibrosis, Hepatic steatosis OMIM:618641
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, B-cell lymphoma, Chylous ascites, Lymphoma, Decreased circulati... ORPHA:90363
Urban-Rogers-Meyer Syndrome
Cryptorchidism, Increased circulating IgE level ORPHA:3409
Primary Sjögren Syndrome
Normocytic anemia, Vaginal dryness, Chronic active hepatitis, Biliary cirrhosis, Decreased circul... ORPHA:289390
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... OMIM:202010
Tick-Borne Encephalitis
Leukocytosis, Increased circulating IgG level, Increased circulating IgM level, Leukopenia, Abnor... ORPHA:297
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Pancytopenia, Thrombocytopenia, Splenomegaly, Vacuolated lymphocyt... ORPHA:167
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgG4 level, Increased circulating IgA level, Retroperitoneal fibrosis, Enla... ORPHA:79078
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Severe B lymphocytopenia, Decreased response to growth hormone stimulation test, Autoimmune throm... ORPHA:293978
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... OMIM:607626
Hennekam Syndrome
Benign neoplasm of the central nervous system, Splenomegaly, Pulmonary lymphangiectasia, Lymphade... ORPHA:2136
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Enlarged polycystic ovarie... ORPHA:90796
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, Nons... OMIM:611881
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Decreased response to growth hormone stimulation test, Cardiomegaly, Retroperitonea... OMIM:602782
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... ORPHA:911
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Micropenis, Uterus didelphys, Septate vagina OMIM:617925
Primary Biliary Cholangitis
Portal hypertension, Increased circulating IgA level, Jaundice, Biliary cirrhosis, Hepatitis, Abn... ORPHA:186
Rift Valley Fever
Jaundice, Hepatitis, Anemia, Increased circulating IgG level, Increased circulating IgM level, Th... ORPHA:319251
Crimean-Congo Hemorrhagic Fever
Hepatomegaly, Acute pancreatitis, Neutrophilia, Pancytopenia, Parotitis, Orchitis, Splenomegaly, ... ORPHA:99827
Familial Mediterranean Fever
Hepatomegaly, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis OMIM:249100
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice, Normochromic anem... OMIM:615512
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, Abnormality of cy... ORPHA:567983
Gaucher Disease Type 3
Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Increased circulating antibody level, Thrombocy... ORPHA:77261
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Aplasia of the uterus ORPHA:3109
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level OMIM:614328
Kikuchi-Fujimoto Disease
Hepatomegaly, Generalized lymphadenopathy, Thrombocytopenia, Cervical lymphadenopathy, Splenomega... ORPHA:50918
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Chand Syndrome
Imperforate hymen ORPHA:1401
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia OMIM:271520
Immunodeficiency 17
Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia, Abnormal B cell morpho... OMIM:615607
Apolipoprotein C-Ii Deficiency
Splenomegaly, Hepatomegaly, Pancreatitis OMIM:207750
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Increased circulating interleukin 6 concentration, Increased circulating interleuki... OMIM:256040
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Increased circulating IgG4 level, Retroperitoneal fibrosis, Abnormal pituita... ORPHA:64744
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level ORPHA:90368
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Neutropenia, Hepatocellular carcinoma, Pancreati... OMIM:232220
Hyperparathyroidism, Neonatal Severe
Splenomegaly, Hepatomegaly, Primary hyperparathyroidism, Anemia OMIM:239200
Lassa Fever
Increased circulating IgM level, Jaundice ORPHA:99824
Gaisböck Syndrome
Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased hematocrit, Elevated... ORPHA:90041
Netherton Syndrome
Increased circulating IgE level, Decreased circulating antibody level ORPHA:634
Reynolds Syndrome
Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Lymphopenia OMIM:613471
Gaucher Disease, Type Iiic
Splenomegaly, Hepatomegaly, Pancytopenia, Cardiomegaly OMIM:231005
Yellow Fever
Acute pancreatitis, Neutrophilia, Increased circulating interleukin 6 concentration, Leukocytosis... ORPHA:99829
Primary Triglyceride Deposit Cardiomyovasculopathy
Splenomegaly, Hepatomegaly, Vacuolated lymphocytes, Pancreatitis ORPHA:565612
Japanese Encephalitis
Increased circulating IgM level, Neutrophilia, Increased circulating antibody level ORPHA:79139
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Abnormality of T cell physiology, Generalized lymphadenopathy, Pancytopenia, Medias... OMIM:181000
Isolated Biliary Atresia
Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis, Acholic stools, Periporta... ORPHA:30391
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f... OMIM:263200
Johanson-Blizzard Syndrome
Hepatomegaly, Hypospadias, Portal hypertension, Septate vagina, Urethrovaginal fistula, Intrahepa... OMIM:243800
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly OMIM:238600
Familial Tumoral Calcinosis
Splenomegaly, Hepatomegaly, Neoplasm of the skin ORPHA:53715
Ulnar-Mammary Syndrome
Small scrotum, Bicornuate uterus, Shawl scrotum, Micropenis, Imperforate hymen OMIM:181450
Simpson-Golabi-Behmel Syndrome
Hepatomegaly, Nephroblastoma, Supernumerary nipple, Splenomegaly, Cryptorchidism, Increased circu... ORPHA:373
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells ORPHA:217260
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Hypospadias, Cryptorchidism, Patent ductus arteriosus, Hydrocele testis, Chordee, Hematocolpos, I... OMIM:619522
Lysinuric Protein Intolerance
Hepatomegaly, Splenomegaly, Anemia, Leukopenia, Hemophagocytosis, Pancreatitis, Thrombocytopenia OMIM:222700
Chromosome 17Q12 Deletion Syndrome
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus OMIM:614527
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Lipoma, Splenomegaly, Nephroblastoma OMIM:612918
Hydrolethalus Syndrome 1
Accessory spleen, Abnormal vagina morphology, Hypospadias, Bifid uterus OMIM:236680
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Vaginal fistula, Abnormality of female external genitalia, Patent ductus arteriosus, Persistent c... ORPHA:1112
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the vagina, Aplasia of the uterus ORPHA:457284
Hyperlipoproteinemia, Type Id
Splenomegaly, Hepatomegaly, Recurrent pancreatitis, Pancreatitis OMIM:615947
Waardenburg Syndrome, Type 1
Aplasia of the vagina OMIM:193500
Adams-Oliver Syndrome 1
Imperforate hymen OMIM:100300
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperplasia, Congenital hepatic fib... ORPHA:731
Ectodermal Dysplasia And Immunodeficiency 2
Splenomegaly, Hepatomegaly, Defective production of NFKB1-dependent cytokines, Aplasia of the swe... OMIM:612132
Microphthalmia, Syndromic 2
Cryptorchidism, Patent ductus arteriosus, Hypospadias, Septate vagina OMIM:300166
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Hypogonadotropic hypogonadism, Cryptorchidism, Transverse vaginal septum, Rectovaginal fistula, M... OMIM:129900
Selective Igm Deficiency
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Decreased proportion o... ORPHA:331235
Distal Deletion 19P
Vaginal hernia, Decreased circulating antibody level ORPHA:96129
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Neoplasm of the liver, Ci... ORPHA:77293
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Cryptorchidism, Micropenis, Transverse vaginal septum, Hypogonadotropic hypogonadism OMIM:604292
Chronic Graft Versus Host Disease
Pancytopenia, Ascites, Abnormal vagina morphology, Phimosis ORPHA:99921
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Cryptorchidism, Patent du... ORPHA:857
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Renal tubular epithelial necrosis, Neutropenia, Vaginal stricture, Vag... ORPHA:95455
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Hypospadias, Septate vagina, Asplenia, Cryptorchidism, Decreased circulating antib... ORPHA:261537
Mowat-Wilson Syndrome
Bifid scrotum, Hypospadias, Septate vagina, Asplenia, Cryptorchidism, Patent ductus arteriosus, D... ORPHA:2152
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Increased circulating IgE level OMIM:615508
Postinfectious Vasculitis
Viral hepatitis, Increased circulating IgA level, Orchitis, Abnormality of humoral immunity, Incr... ORPHA:48435
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Hypospadias, Septate vagina, Asplenia, Cryptorchidism, Patent ductus arteriosus, D... ORPHA:261552
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Renal tubular epithelial necrosis, Increased circulating IgG level, Normochrom... ORPHA:91500
Trichinellosis
Increased circulating IgE level ORPHA:863
Peters-Plus Syndrome
Hypoplasia of the vagina, Hypospadias, Bilobate gallbladder, Cryptorchidism, Patent ductus arteri... OMIM:261540
Viss Syndrome
Exostosis of the external auditory canal, Patent ductus arteriosus, Increased circulating IgE lev... OMIM:619472
Pallister-Killian Syndrome
Small scrotum, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Hypoplastic labia majora, A... OMIM:601803

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Bmf

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Bmf.

No publications found that use IMPC mice or data for Bmf.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Bmftm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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