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Gene: Il1rl2 MGI:1913107

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Gene Summary

Name:
interleukin 1 receptor-like 2
Synonyms:
N/A

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased anxiety-related response Il1rl2em1(IMPC)Mbp HOM Early adult 8.75×10-05
abnormal eye morphology Il1rl2em1(IMPC)Mbp HOM Early adult 0.00
decreased locomotor activity Il1rl2em1(IMPC)Mbp HOM Early adult 1.06×10-08
hyperactivity Il1rl2em1(IMPC)Mbp HOM Early adult 2.35×10-05
abnormal behavior Il1rl2em1(IMPC)Mbp HOM Early adult 4.69×10-05
decreased thigmotaxis Il1rl2em1(IMPC)Mbp HOM Early adult 3.61×10-05

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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.

X-ray

XRay Images Whole Body Dorso Ventral

80 Images

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X-ray

XRay Images Whole Body Lateral Orientation

40 Images

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Human diseases caused by Il1rl2 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 Il1rl2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency 50
Lymphopenia, Decreased circulating antibody level, Eczematoid dermatitis, Neutropenia OMIM:300988
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Neutropenia, Chronic Familial
Periodontitis, Neutropenia, Increased circulating antibody level OMIM:162700
Schizophrenia 15
Hyperactivity OMIM:613950
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn... OMIM:615214
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Thr... OMIM:615285
Immunodeficiency 104
Pneumonia, Diarrhea, Gastroesophageal reflux, Eczematoid dermatitis, Chronic mucocutaneous candid... OMIM:608971
Immunodeficiency 53
Recurrent pneumonia, Recurrent otitis media, Skin rash, Impaired lymphocyte transformation with p... OMIM:617585
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Agammaglobulinemia 3, Autosomal Recessive
Diarrhea, Recurrent otitis media, Agammaglobulinemia, Absent circulating B cells, Neutropenia, Ab... OMIM:613501
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Follicular hyperplasia, Increased circulating antibody level, Lymphoc... OMIM:614470
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Neutropenia OMIM:616022
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:613502
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Diarrhea, Recurrent aphthous stomatitis, Splenomegal... OMIM:150550
Trimethylaminuria
Anemia, Recurrent pneumonia, Splenomegaly, Neutropenia OMIM:602079
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Absence of lymph node germinal center, Decreased circulating IgA... OMIM:606843
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... OMIM:202700
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis ORPHA:60026
Immunodeficiency 105
Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina... OMIM:619924
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Immunodeficiency 76
Recurrent pneumonia, Lymphopenia, Splenomegaly, Chronic diarrhea, Lymphadenopathy, B lymphocytope... OMIM:619164
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, D... OMIM:615513
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Recurrent ... OMIM:618986
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Eczematoid dermatitis, Neutropenia OMIM:300299
Immunodeficiency 52
Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulat... OMIM:617514
Intellectual Developmental Disorder, Autosomal Recessive 37
Bruxism, Aggressive behavior, Hyperactivity OMIM:615493
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Aggressive behavior, Hyperactivity ORPHA:356996
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic anemia, Lymphadenopathy, N... OMIM:619220
Transcobalamin Deficiency
Decreased circulating IgG level, Lymphopenia, Pancytopenia, Decreased circulating IgA level, Thro... ORPHA:859
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Skin rash, Lymphadenopathy, Thrombocytopenia, Neutropenia, Anemia... OMIM:603552
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Decreased circulating antibody... OMIM:619846
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Immunodeficiency 46
Conjunctivitis, Chronic diarrhea, Neutropenia, Anemia, Intermittent thrombocytopenia, Decreased c... OMIM:616740
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Increased circulat... ORPHA:169154
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Recurren... OMIM:619707
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Increased circulating IgE level, Recurrent otitis media, Hepatosplen... OMIM:618982
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Follicular hyperplasia, Decreased proportion of class-switched memory B cells... OMIM:619126
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancyt... OMIM:308240
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Histiocytosis, Skin rash ORPHA:157997
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Recurrent otitis media, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lympha... ORPHA:444463
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of... OMIM:212050
Immunodeficiency, Common Variable, 1
Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Diarrhea, Recurrent pneumonia,... OMIM:607594
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Gait ataxia, Dysphagia, Hyperactivity, Impulsivity OMIM:620448
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Immunodeficiency 102
Decreased proportion of CD4-positive helper T cells, Recurrent skin infections, Autoimmune thromb... OMIM:301082
Kerion Celsi
Inflammatory abnormality of the skin, Recurrent skin infections, Recurrent cutaneous abscess form... ORPHA:499
Macrophage Activation Syndrome
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... ORPHA:158061
Immunodeficiency 97 With Autoinflammation
Diarrhea, Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosple... OMIM:619802
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... OMIM:618261
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent pneumonia, Diarrhea, Inflammatory abnormality of the skin, Absence of lymph node germin... ORPHA:277
Immunodeficiency 98 With Autoinflammation, X-Linked
Decreased circulating IgG level, Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, ... OMIM:301078
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Osteomyelitis, Anemia, Neutropen... OMIM:614172
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, Atopic dermatitis, T lymphocytopenia, Pneum... OMIM:618806
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke... OMIM:619041
Whim Syndrome 1
Decreased circulating IgG level, Decreased circulating antibody level, Bronchiectasis, Neutropenia OMIM:193670
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, 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
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Adult Idiopathic Neutropenia
Lymphopenia, Recurrent aphthous stomatitis, Neutropenia, Monocytosis, Monocytopenia, Increased ci... ORPHA:2688
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity, Irritability OMIM:616657
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia OMIM:233650
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei OMIM:310350
Immunodeficiency 112
Decreased circulating IgG level, Reduced natural killer cell count, Chronic mucocutaneous candidi... OMIM:620449
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Felty Syndrome
Rheumatoid arthritis, Splenomegaly, Neutropenia OMIM:134750
Combined Immunodeficiency, X-Linked
Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-po... OMIM:312863
Immunodeficiency 27A
Pneumonia, Diarrhea, Enlarged mesenteric lymph node, Hepatosplenomegaly, Leukocytosis, Splenomega... OMIM:209950
Immunodeficiency 7
Diarrhea, Recurrent otitis media, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, L... OMIM:615387
Aregenerative Anemia
Bone marrow hypocellularity, Abnormal circulating interleukin concentration, Pancytopenia, Decrea... ORPHA:101096
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Crohn's disease, Agammaglobulinemia, Absent circulating B cells,... OMIM:619705
Glycine Encephalopathy 1
Irritability, Aggressive behavior, Lethargy, Hyperactivity, Restlessness, Impulsivity OMIM:605899
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Immunodeficiency 15A
Decreased proportion of memory B cells, Chronic mucocutaneous candidiasis, Cutaneous abscess, Acn... OMIM:618204
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism OMIM:183350
Fanconi Anemia, Complementation Group G
Leukemia, Anemia, Neutropenia, Thrombocytopenia OMIM:614082
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczematoid dermatitis, Hepatitis, Increased circulating IgE level, Decreased FOXP3-expressing T c... OMIM:304790
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Exocrine pancreatic insufficiency, Abnormal immunoglobulin level, Neutropenia, Steatorrhea OMIM:618752
Folate Malabsorption, Hereditary
Diarrhea, Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:229050
Immunodeficiency 19
Abnormal B cell morphology, Abnormal natural killer cell morphology, Recurrent otitis media, T ly... OMIM:615617
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... OMIM:618534
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Refractory Anemia
Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi... ORPHA:98826
Caspase 8 Deficiency
Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Decreased CD4:CD8 ratio, Decre... OMIM:607271
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pne... OMIM:619281
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Cyclic Neutropenia
Recurrent tonsillitis, Periodontitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, ... ORPHA:2686
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Abnormal T cell count, Diarrhea, Recurrent pneumonia, Recurrent ... OMIM:240500
Hartnup Disorder
Emotional lability, Attention deficit hyperactivity disorder, Hyperactivity, Episodic ataxia OMIM:234500
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Panuveitis, Osteomyelitis, Hepatosplenomegaly, Panniculitis, Com... OMIM:301081
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... OMIM:614700
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... OMIM:618108
Immunodeficiency 67
Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... OMIM:607676
Kimura Disease
Increased circulating IgE level, Eosinophilia, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Recurrent sinusitis, Lymphadenopathy, Thrombo... OMIM:613101
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Severe Combined Immunodeficiency, X-Linked
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level,... OMIM:300400
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Immunodeficiency 109 With Lymphoproliferation
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Pancytopenia, Co... OMIM:620282
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating IgG level, Reduced natural killer cell count, Recurrent pneumonia, Atopic d... OMIM:619752
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Diarrhea, Chronic mucocutaneous candidiasis, Panhypogammaglobulinemia, Pr... ORPHA:572
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Hemophagocytosis, Increased circulating interf... ORPHA:540
Specific Granule Deficiency 1
Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent ne... OMIM:245480
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Abnormal circulating interleukin concentration, Hemophagocytos... ORPHA:158057
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:619031
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Follicular hype... OMIM:601859
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of a... ORPHA:231154
Immunodeficiency 38 With Basal Ganglia Calcification
Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy OMIM:616126
Amegakaryocytic Thrombocytopenia, Congenital, 2
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:620481
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Diarrhea, Panhypogammaglobulinemia, Otitis media, Purulent rhinitis, Arthritis, B lymp... OMIM:601457
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity, Ataxia OMIM:617113
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a... OMIM:159550
Bone Marrow Failure Syndrome 6
Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp... OMIM:618849
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Splenomegaly OMIM:606445
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Autoimmune Lymphoproliferative Syndrome, Type Iia
Nephritis, Gastrointestinal hemorrhage, Malar rash, Chronic noninfectious lymphadenopathy, Autoim... OMIM:603909
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Decreased circulating IgG level, Diarrhea, Eczematoid dermatitis, Lymphopenia... OMIM:616100
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume ORPHA:494444
Pontocerebellar Hypoplasia, Type 15
Anemia, Chronic neutropenia, Thrombocytopenia OMIM:619302
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
X-Linked Agammaglobulinemia
Recurrent pneumonia, Hepatitis, Conjunctivitis, Osteomyelitis, Skin rash, Abnormality of the lymp... ORPHA:47
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Diarrhea, Recurrent otitis media, Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic ane... OMIM:618495
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Hemochromatosis, Type 3
Anemia, Lymphopenia, Arthritis, Neutropenia OMIM:604250
Pgm3-Cdg
Allergic rhinitis, Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Esophagi... ORPHA:443811
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibod... OMIM:247800
Immunodeficiency 13
Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Decreased CD4:CD8 ratio, Decreased prop... OMIM:615518
Autosomal Dominant Severe Congenital Neutropenia
Pneumonia, Diarrhea, Aplastic anemia, Periodontitis, Lymphopenia, Recurrent aphthous stomatitis, ... ORPHA:486
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating IgG level, Atopic dermatitis, Cutaneous abscess, Increased circulating IgE ... OMIM:618944
Hyperprolinemia, Type I
Aggressive behavior, Motor stereotypy, Hyperactivity, Ataxia OMIM:239500
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Reticular Dysgenesis
Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus OMIM:267500
Combined Immunodeficiency Due To Zap70 Deficiency
Pneumonia, Lymphadenitis, Chronic mucocutaneous candidiasis, Abnormal lymph node morphology, Decr... ORPHA:911
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Intellectual Developmental Disorder, X-Linked 111
Phonic tics, Aggressive behavior, Hyperactivity, Compulsive behaviors, Unsteady gait OMIM:301107
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Cernunnos-Xlf Deficiency
Lymphopenia, Decreased circulating antibody level, Thrombocytopenia, B lymphocytopenia, Anemia, T... ORPHA:169079
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Griscelli Syndrome Type 2
Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia ORPHA:79477
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Inflammation of the large intestine, Diarrhea, Psoriasiform dermatitis, Autoimmune thrombocytopen... ORPHA:436159
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion... OMIM:613011
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Diarrhea, Hepatitis, Absence of lymph node germinal center, Abno... OMIM:308230
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Diarrhea, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocyto... ORPHA:98850
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Tularemia
Pneumonia, Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal ad... ORPHA:3392
Acute Erythroid Leukemia
Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, E... ORPHA:318
Autosomal Agammaglobulinemia
Diarrhea, Bronchiectasis, Hepatitis, Osteomyelitis, Skin rash, Agammaglobulinemia, Sinusitis, Neu... ORPHA:33110
Burkitt Lymphoma
Gastrointestinal hemorrhage, Abnormal lymph node morphology, Abnormality of the spleen, Decreased... ORPHA:543
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hemophagocytosis, Hepatitis, ... OMIM:300635
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Irritability, Aggressive behavi... ORPHA:3077
Familial Cold Autoinflammatory Syndrome 2
Recurrent aphthous stomatitis, Leukocytosis, Skin rash, Splenomegaly, Lymphadenopathy, Arthritis,... OMIM:611762
Activated Pi3K-Delta Syndrome
Pneumonia, Recurrent tonsillitis, Recurrent otitis media, Splenomegaly, Chronic sinusitis, Lympha... ORPHA:397596
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat... OMIM:611926
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Lymphadenopathy, Anemia ORPHA:100024
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Reduced natural killer cell count, Decreased circulating ... OMIM:619510
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Immunodeficiency 69
Diarrhea, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Skin ra... OMIM:618963
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Immunodeficiency 68
Lymphadenitis, Recurrent skin infections, Abscess, B lymphocytopenia, Septic arthritis, Abnormal ... OMIM:612260
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia OMIM:616738
Felty Syndrome
Bone marrow hypocellularity, Recurrent pneumonia, Abnormal lymphocyte morphology, Episcleritis, S... ORPHA:47612
Immune Dysregulation, Autoimmunity, And Autoinflammation
Increased circulating interleukin 8 concentration, Increased circulating interleukin 6 concentrat... OMIM:620514
Immunodeficiency 55
Diarrhea, Absent natural killer cells, Eczematoid dermatitis, Lymphopenia, Lymphadenopathy, Neutr... OMIM:617827
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Skin rash, Lymphadenopathy, Arthritis, Anemia, Increased circulating ... ORPHA:37748
Immunodeficiency 115 With Autoinflammation
Decreased circulating IgG level, Eczematoid dermatitis, Intestinal lymphangiectasia, Intermittent... OMIM:620632
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Abnormal T cell count, Decreased circulating IgG ... OMIM:620430
Agammaglobulinemia, X-Linked
Recurrent otitis media, Lymph node hypoplasia, Prostatitis, Neutropenia, Epididymitis, Pyoderma, ... OMIM:300755
Slc35A1-Cdg
Pneumonia, Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia ORPHA:238459
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Recurrent pneumonia, Recurrent tonsillitis, Granuloma, Lymphadenitis, Eczemat... OMIM:618935
Immunodeficiency 110 With Lymphoproliferation
Recurrent pneumonia, Chronic mucocutaneous candidiasis, Lymphopenia, Recurrent aphthous stomatiti... OMIM:614868
Fanconi Anemia, Complementation Group V
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:617243
Juvenile Huntington Disease
Broad-based gait, Depression, Gait ataxia, Irritability, Hyperactivity, Ataxia, Bradykinesia, Pro... ORPHA:248111
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Aggressive behavior, Hyperactivity, Ataxia OMIM:620270
Leishmaniasis
Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Increased circulating ant... ORPHA:507
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Panhypogammaglobulinemia, Recurrent otitis media, Chronic diarrhea, Recurren... OMIM:601495
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Pneumonia, Panhypogammaglobulinemia, Increa... OMIM:602450
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Macrocytic anemia OMIM:612527
Lymphoproliferative Syndrome 2
Recurrent pneumonia, Aplastic anemia, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Splenom... OMIM:615122
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia ORPHA:79312
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia OMIM:608898
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Aggressive behavior, Broad-based gait, Motor stereotypy, Hyperactivity OMIM:619470
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Inflammation of the large intestine, Eczematoid dermatitis, Chro... ORPHA:98813
Specific Granule Deficiency 2
Intractable diarrhea, Recurrent pneumonia, Recurrent otitis media, Absent neutrophil specific gra... OMIM:617475
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Bone marrow hypocellularity, Eczematoid dermatitis, Leukopenia, Acute myeloid leukemia, Monocytos... OMIM:616871
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Neutropenia, Megaloblastic anemia, Thrombocytopenia OMIM:598500
Reticular Dysgenesis
Diarrhea, Aplasia/Hypoplasia of the thymus, Leukopenia, Skin rash, Anemia, Abnormality of neutrop... ORPHA:33355
Immunodeficiency 25
Recurrent pneumonia, Protracted diarrhea, Increased circulating IgE level, Complete or near-compl... OMIM:610163
Immunodeficiency 32B
Pneumonia, Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, Sinusitis, Eos... OMIM:226990
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Boutonneuse Fever
Diarrhea, Cervical lymphadenopathy, Leukopenia, Skin rash, Maculopapular exanthema, Nausea, Lymph... ORPHA:83313
Acute Generalized Exanthematous Pustulosis
Predominantly dermal neutrophilic infiltrate, Leukocytosis, Pustule, Eosinophilic dermal infiltra... ORPHA:293173
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Diarrhea, Leukocytosis, Panniculitis, Chronic diarrhea, Skin rash, Increased proportion of CD4-po... OMIM:617099
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center, Osteomyelitis, Autoimmune hemolytic anemia, Autoimmune thr... OMIM:608184
Mhc Class Ii Deficiency 1
Chronic mucocutaneous candidiasis, Protracted diarrhea, Panhypogammaglobulinemia, Infectious ence... OMIM:209920
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Pneumonia, Absent natural killer cells, Panhypogammaglobulinemia, Recurrent otitis media, Lymphop... OMIM:600802
Mast Cell Sarcoma
Mastocytosis, Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy ORPHA:66661
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl... ORPHA:2585
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Pancytopenia, Abnormal T cell subset distribution, Splenomegaly, Abnormal cytok... ORPHA:158048
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Anemia, Thrombocytopenia, Pancreatitis, Neutropenia ORPHA:289916
Immunodeficiency 70
Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, Recurrent s... OMIM:618969
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... OMIM:612840
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Diarrhea, Brain abscess, Abnormal lymph node morphology, Abnormality of the lymphatic system, Neu... ORPHA:54251
Lennox-Gastaut Syndrome
Aggressive behavior, Falls, Hyperactivity, Irritability ORPHA:2382
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Eczematoid dermatitis,... OMIM:242700
Pelger-Huet Anomaly
Giant platelets, Eczematoid dermatitis, Recurrent otitis media, Hyposegmentation of neutrophil nu... OMIM:169400
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C... ORPHA:37042
Indolent Systemic Mastocytosis
Mastocytosis, Increased proportion of CD25+ mast cells, Skin rash, Splenomegaly, Lymphadenopathy,... ORPHA:98848
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Bone marrow hypocellularity, Elliptocytosis, Macrocytic anemia,... OMIM:300835
Disabling Pansclerotic Morphea Of Childhood
Lymphopenia, Neutropenia OMIM:620443
Combined Immunodeficiency Due To Dock8 Deficiency
Pneumonia, Atopic dermatitis, Increased circulating IgE level, Recurrent sinusitis, B lymphocytop... ORPHA:217390
Idiopathic Aplastic Anemia
Bone marrow hypocellularity, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia ORPHA:88
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Abnormal circulating IgM level, Neutrophilic infiltration... OMIM:618048
Rosaï-Dorfman Disease
Anemia, Dysgammaglobulinemia, Lymphadenopathy ORPHA:158014
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait ataxia, Dysmetria, Gait disturbance, Hyperactivity OMIM:618090
Immunodeficiency 32A
Lymphadenitis, Granuloma, Lymphadenopathy OMIM:614893
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Gout, Neutropenia OMIM:617056
Bone Marrow Failure Syndrome 2
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia OMIM:615715
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... OMIM:619375
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Inappropriate behavior, Aggressive behavior, Attention deficit hyperacti... OMIM:619827
Acute Promyelocytic Leukemia
Pancytopenia, Leukopenia, Leukocytosis, Lymphadenopathy, Neutropenia, Thrombocytopenia, Anemia, S... ORPHA:520
Letterer-Siwe Disease
Hepatosplenomegaly, Seborrheic dermatitis, Neutropenia, Thrombocytopenia, Anemia, Stomatitis OMIM:246400
Cinca Syndrome
Hepatosplenomegaly, Leukocytosis, Skin rash, Eosinophilia, Lymphadenopathy, Arthritis, Anemia, Uv... OMIM:607115
Morm Syndrome
Aggressive behavior, Hyperactivity ORPHA:75858
Neonatal Lupus Erythematosus
Aplastic anemia, Pancytopenia, Malar rash, Splenomegaly, Skin rash, Neutropenia, Thrombocytopenia... ORPHA:398124
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased specific anti-polysaccharide anti... OMIM:606367
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Vomiting, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocyto... ORPHA:35858
Bone Marrow Failure Syndrome 4
Bone marrow hypocellularity, Eczematoid dermatitis, Leukopenia, Thrombocytopenia, Anemia, Decreas... OMIM:618116
Ziegler-Huang Syndrome
Bone marrow hypocellularity, Neutropenia, Macrocytic anemia, Persistence of hemoglobin F OMIM:620501
Alpha-Heavy Chain Disease
Anemia, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy ORPHA:100025
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia, Athetosis ORPHA:382
Transcobalamin Ii Deficiency
Decreased circulating IgG level, Diarrhea, Vomiting, Pancytopenia, Decreased circulating IgA leve... OMIM:275350
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Reduced na... ORPHA:276
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive... ORPHA:3261
Adenocarcinoma Of The Esophagus
Gastroesophageal reflux, Lymphadenopathy ORPHA:99976
Autoinflammation With Episodic Fever And Lymphadenopathy
Microcytic anemia, Recurrent tonsillitis, Splenomegaly, Lymphadenopathy OMIM:618852
Intellectual Developmental Disorder, Autosomal Dominant 67
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity OMIM:619927
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:609425
Chediak-Higashi Syndrome
Periodontitis, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Abnormal de... OMIM:214500
Congenital Enterovirus Infection
Hepatitis, Leukopenia, Leukocytosis, Abnormal macrophage morphology, Skin rash, Infectious enceph... ORPHA:292
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Decreased circulating IgA level, Lymphadenopathy, Increased circ... OMIM:608106
Immunodeficiency 23
Allergic rhinitis, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Increased circulatin... OMIM:615816
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo... ORPHA:3226
Developmental Delay, Hypotonia, And Impaired Language
Recurrent pneumonia, Gastroesophageal reflux, Neutropenia, Constipation OMIM:620012
Heme Oxygenase 1 Deficiency
Nephritis, Cervical lymphadenopathy, Coombs-positive hemolytic anemia, Lymphadenopathy, Thrombocy... OMIM:614034
Classic Mycosis Fungoides
Eczematoid dermatitis, Abnormal lymphocyte morphology, Skin rash, Splenomegaly, Lymphadenopathy ORPHA:2584
Fusariosis
Pneumonia, Granuloma, Brain abscess, Keratitis, Fasciitis, Abnormality of the spleen, Lymphopenia... ORPHA:228119
Selective Igm Deficiency
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-positive T ce... ORPHA:331235
Phenylketonuria
Depression, Self-mutilation, Irritability, Aggressive behavior, Attention deficit hyperactivity d... OMIM:261600
Landau-Kleffner Syndrome
Depression, Gait ataxia, Emotional lability, Aggressive behavior, Attention deficit hyperactivity... ORPHA:98818
Neonatal Alloimmune Neutropenia
Pneumonia, Neutropenia in presence of anti-neutropil antibodies ORPHA:464370
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Abnormal circulating interleukin concentration, Diarrhea,... ORPHA:79124
Intellectual Developmental Disorder, Autosomal Recessive 38
Recurrent hand flapping, Self-mutilation, Aggressive behavior, Hyperactivity, Unsteady gait OMIM:615516
Aspergillosis
Pneumonia, Keratitis, Hepatitis, Increased circulating IgE level, Osteomyelitis, Infectious encep... ORPHA:1163
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 9
Leukemia, Leukopenia OMIM:620400
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Inability to walk, Bruxism, Motor stereotypy, Hyperactivity, Paroxysmal ... OMIM:618718
Whim Syndrome
Pneumonia, Recurrent pneumonia, Lymphadenitis, Parotitis, Abnormal neutrophil morphology, Lymphop... ORPHA:51636
Propionic Acidemia
Vomiting, Eczematoid dermatitis, Pancytopenia, Constipation, Pancreatitis, Thrombocytopenia, Neut... OMIM:606054
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Eczematoid dermatitis, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Decreased circulati... OMIM:615952
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Diarrhea, Vomiting, Leukopenia, Pancreatitis, Thrombocytopenia, Neutropenia, Tubulointerstitial n... OMIM:251000
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Vomiting, Diarrhea, Megaloblastic anemia, Neutropenia OMIM:250940
Immunodeficiency 10
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:612783
Onychotrichodysplasia And Neutropenia
Chronic irritative conjunctivitis, Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Hyper-Igd Syndrome
Diarrhea, Lymphadenitis, Vomiting, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Skin rash, Inc... OMIM:260920
Omenn Syndrome
Pneumonia, Diarrhea, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Erythroderma, ... OMIM:603554
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Thrombocytopenia, Neutropenia OMIM:603585
Dyskeratosis Congenita, Autosomal Dominant 2
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Leukopenia, Thrombocytopenia, Neutrop... OMIM:613989
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Splenomegaly, Skin rash, Increased circulating antibody level, Myositis, Sinusitis, ... OMIM:617591
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Recurrent pneumonia, Hemophagocytosis, Hepatosplenomegaly, Maculopapular exanthema,... OMIM:619644
Sweet Syndrome
Abnormal circulating interleukin concentration, Inflammation of the large intestine, Increased ci... ORPHA:3243
Congenital Disorder Of Glycosylation, Type Iic
Pneumonia, Reduction of neutrophil motility, Periodontitis, Recurrent otitis media, Neutrophilia OMIM:266265
Gamma-Heavy Chain Disease
Rheumatoid arthritis, Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, ... ORPHA:100026
Tafro Syndrome
Increased circulating interleukin 6 concentration, Hepatosplenomegaly, Leukocytosis, Splenomegaly... ORPHA:457077
Sepsis In Premature Infants
Diarrhea, Increased circulating interleukin 6 concentration, Vomiting, Leukocytosis, Splenomegaly... ORPHA:90051
Developmental And Epileptic Encephalopathy 66
Anemia, Neutropenia OMIM:618067
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Bone marrow hypocellularity, Eczematoid dermatitis, Lymphopenia, Leukopenia, Reticulocytopenia, B... ORPHA:508542
Poikiloderma With Neutropenia
Recurrent pneumonia, Recurrent otitis media, Leukopenia, Splenomegaly, Recurrent sinusitis, Skin ... OMIM:604173
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Diarrhea, Hypoplasia of the thymus, Impaired lymphocyte transf... OMIM:619313
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... OMIM:605258
Griscelli Syndrome
Bone marrow hypocellularity, Hepatitis, Leukopenia, Splenomegaly, Lymphadenopathy, Thrombocytopen... ORPHA:381
Immunodeficiency 92
Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta... OMIM:619652
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Mitochondrial Complex I Deficiency, Nuclear Type 33
Dysphagia, Bronchiectasis, Neutropenia, Aspiration pneumonia OMIM:618253
Papa Syndrome
Crohn's disease, Increased inflammatory response, Myositis, Increased circulating antibody level,... ORPHA:69126
Omenn Syndrome
Pneumonia, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Eosinophilia, Erythroderma... ORPHA:39041
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell count, Gastroesophageal reflux, Periodontitis, Enlarged platelet dens... OMIM:608233
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Impulsivity ORPHA:101039
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Interm... OMIM:616433
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Thrombocytopenia, Gastroesophageal reflux, Normochromic anemia, Neutropenia OMIM:614857
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Lymphopenia, Leukopenia, Neutropenia, Schistocytosis, Anemia, Thrombocytopenia, Hemolytic anemia OMIM:301110
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Recurrent pneumonia, Absent natural killer cells, Lymphopenia, H... ORPHA:35078
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:614520
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Increased circulating IgA level, Neutropenia OMIM:616395
Immunodeficiency 17
Abnormal B cell morphology, Eczematoid dermatitis, Decreased proportion of CD8-positive T cells, ... OMIM:615607
Sézary Syndrome
Abnormal lymphocyte morphology, Splenomegaly, Abnormal immunoglobulin level, Erythroderma, Lympha... ORPHA:3162
3-Methylglutaconic Aciduria, Type Viia
Anemia, Neutropenia, Anisopoikilocytosis OMIM:619835
Pfapa Syndrome
Lymphadenopathy, Splenomegaly, Arthritis, Infectious encephalitis ORPHA:42642
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Colitis, Leukopenia, Decreased circulating antibody level OMIM:615190
Immunodeficiency 54
Reduced natural killer cell count, Splenomegaly, Lymphadenopathy OMIM:609981
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Self-injurious behavior, Inability to walk, Aggressive behavior, Hyperactivity, Choreoathetosis OMIM:620023
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:86893
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... OMIM:608203
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Gait ataxia, Aggressive behavior, Hyperactivity, Dysphagia, Impulsivity ORPHA:500180
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities
Gait ataxia, Self-mutilation, Hyperactivity, Paroxysmal bursts of laughter, Impulsivity, Waddling... OMIM:620445
Drug Reaction With Eosinophilia And Systemic Symptoms
Hepatitis, Interstitial pneumonitis, Skin rash, Infectious encephalitis, Pustule, Eosinophilia, L... ORPHA:139402
Spondyloenchondrodysplasia With Immune Dysregulation
Pneumonia, Rheumatoid arthritis, Recurrent otitis media, Lymphopenia, T lymphocytopenia, Recurren... OMIM:607944
Diamond-Blackfan Anemia 11
Bone marrow hypocellularity, Neutropenia, Anemia of inadequate production OMIM:614900
Congenital Toxoplasmosis
Anemia, Diarrhea, Lymphadenopathy, Thrombocytopenia ORPHA:858
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Inappropriate laughter, Polyphagia, Hyperactivity, Ataxia ORPHA:411515
Intellectual Developmental Disorder, Autosomal Recessive 39
Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:615541
Shwachman-Diamond Syndrome
Aplastic anemia, Pancytopenia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Neutropeni... ORPHA:811
Roifman Syndrome
Recurrent pneumonia, Eczematoid dermatitis, Recurrent otitis media, Hepatosplenomegaly, Eosinophi... ORPHA:353298
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Conjunctivitis, Lymphadenopathy, Arthritis OMIM:617772
Follicular Lymphoma
Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy ORPHA:545
Sting-Associated Vasculopathy, Infantile-Onset
Pustular rash, Lymphopenia, Leukopenia, Malar rash, Skin rash, Follicular hyperplasia, Pustule, M... OMIM:615934
Mucopolysaccharidosis-Plus Syndrome
Nephritis, Recurrent pneumonia, Bone marrow hypocellularity, Leukopenia, Splenomegaly, Thrombocyt... OMIM:617303
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Hematochezia, Inflammation of the large intestine, Blepharitis, R... OMIM:617718
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Acute leukemia, Inflammation of the large intestine, Microcytic a... ORPHA:906
Necrotizing Enterocolitis
Diarrhea, Vomiting, Leukocytosis, Peritonitis, Thrombocytopenia, Neutropenia, Bloody diarrhea ORPHA:391673
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... OMIM:233710
Methylcobalamin Deficiency Type Cble
Vomiting, Increased mean corpuscular volume, Pancytopenia, Macrocytic anemia, Neutropenia ORPHA:2169
Good Syndrome
Thymoma, Mediastinal lymphadenopathy, Diarrhea, Aplasia/Hypoplasia of the thymus, Recurrent skin ... ORPHA:169105
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Diarrhea, Vomiting, Abnormality of the spleen, Lymphocytosis, Erythr... ORPHA:79456
Schimke Immunoosseous Dysplasia
Lymphopenia, Pancytopenia, Abnormal T cell morphology, Abnormal immunoglobulin level, Thrombocyto... OMIM:242900
Adult-Onset Still Disease
Bone marrow hypocellularity, Hepatitis, Leukocytosis, Splenomegaly, Skin rash, Interstitial pneum... ORPHA:829
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... ORPHA:824
Kikuchi-Fujimoto Disease
Abnormal lymph node morphology, Cervical lymphadenopathy, Leukopenia, Malar rash, Splenomegaly, S... ORPHA:50918
Schimke Immuno-Osseous Dysplasia
Minimal change glomerulonephritis, Bone marrow hypocellularity, Abnormal proportion of naive CD4 ... ORPHA:1830
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Otitis media, Erythroid hypoplasia, Hy... OMIM:612541
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
Cinca Syndrome
Leukocytosis, Splenomegaly, Inflammatory abnormality of the eye, Lymphadenopathy, Anemia, Abnorma... ORPHA:1451
Niemann-Pick Disease, Type A
Vomiting, Sea-blue histiocytosis, Microcytic anemia, Splenomegaly, Constipation, Lymphadenopathy,... OMIM:257200
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... OMIM:233690
Dyskeratosis Congenita, Autosomal Dominant 3
Bone marrow hypocellularity, Gastrointestinal hemorrhage, Aplastic anemia, Pancytopenia, Leukopen... OMIM:613990
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Pneumonia, Reduced natural killer cell count, Diarrhea, Decreased circulating IgA level, Sinusiti... OMIM:242860
Graft Versus Host Disease
Pneumonia, Inflammatory abnormality of the skin, Diarrhea, Hemophagocytosis, Vomiting, Fasciitis,... ORPHA:39812
Zygomycosis
Diarrhea, Pustule, Acute infectious pneumonia, Neutropenia, Endocarditis, Gastrointestinal hemorr... ORPHA:73263
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Diarrhea, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic... ORPHA:98849
Castleman Disease
Increased circulating interleukin 6 concentration, Follicular hyperplasia, Intestinal obstruction... ORPHA:160
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Recurrent otitis media, Esophagitis, Macrocytic anemia, Neutro... OMIM:612562
Common Variable Immunodeficiency
Pneumonia, Bronchiectasis, Lymphopenia, Decreased circulating antibody level, Splenomegaly, Otiti... ORPHA:1572
Cohen Syndrome
Leukopenia, Neutropenia OMIM:216550
Immunodeficiency 49
Abnormally low T cell receptor excision circle level, Lymphopenia, Psoriasiform dermatitis, Eosin... OMIM:617237
Purine Nucleoside Phosphorylase Deficiency
Pneumonia, Lymphopenia, Lymph node hypoplasia, Autoimmune hemolytic anemia, Splenomegaly, Otitis ... OMIM:613179
Kasabach-Merritt Phenomenon
Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Abnormal lymphatic vessel morphol... ORPHA:2330
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Xerostomia, Mediastinal lymphadenopathy, Le... ORPHA:809
Evans Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop... ORPHA:1959
Chédiak-Higashi Syndrome
Abnormality of neutrophil physiology, Periodontitis, Hemophagocytosis, Abnormal natural killer ce... ORPHA:167
Developmental Delay, Language Impairment, And Ocular Abnormalities
Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact... OMIM:620141
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, Lymphocytos... ORPHA:514
Systemic-Onset Juvenile Idiopathic Arthritis
Skin rash, Splenomegaly, Lymphadenopathy, Arthritis, Juvenile rheumatoid arthritis, Pericarditis,... ORPHA:85414
Cartilage-Hair Hypoplasia
Lymphopenia, Macrocytic anemia, Constipation, Impaired lymphocyte transformation with phytohemagg... OMIM:250250
Cold Agglutinin Disease
Diarrhea, Hemolytic anemia, Splenomegaly, Lymphadenopathy ORPHA:56425
Barth Syndrome
Hypochromic microcytic anemia, Granulocytopenia, Cyclic neutropenia, Neutropenia OMIM:302060
Methylmalonic Aciduria, Cblb Type
Vomiting, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:251110
3-Methylglutaconic Aciduria Type 7
Bone marrow hypocellularity, Infection associated neutropenia, Neutropenia ORPHA:445038
Roifman Syndrome
Recurrent pneumonia, Eczematoid dermatitis, Recurrent otitis media, Splenomegaly, Eosinophilia, L... OMIM:616651
Immunodeficiency 82 With Systemic Inflammation
Diarrhea, Decreased circulating total IgG, Pustular rash, Recurrent otitis media, Follicular hype... OMIM:619381
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Pancytopenia, Skin rash, Megaloblastic anemia, Thrombocytopenia, Neutropenia, Anemia, Stomatitis OMIM:277380
Legionnaires Disease
Bone marrow hypocellularity, Diarrhea, Hepatitis, Lymphopenia, Splenomegaly, Infectious encephali... ORPHA:549
Bone Marrow Failure Syndrome 3
Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Eczematoid derma... OMIM:617052
Pediatric Systemic Lupus Erythematosus
Discoid lupus rash, Nephritis, Diarrhea, Vomiting, Microangiopathic hemolytic anemia, Lymphopenia... ORPHA:93552
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Diarrhea, Inflammatory abnormality of the skin, Eczematoid dermatitis, Chronic mucocutaneous cand... ORPHA:391487
T-Cell Immunodeficiency With Thymic Aplasia
Pneumonia, Diarrhea, Eczematoid dermatitis, Decreased proportion of naive T cells, Aplasia of the... ORPHA:83471
Vici Syndrome
Decreased circulating IgG level, Chronic mucocutaneous candidiasis, Lymphopenia, Leukopenia, Decr... OMIM:242840
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Exocrine pancreatic insufficiency, Pancytopenia, Acute myeloid leuke... OMIM:260400
Methylmalonic Acidemia With Homocystinuria Type Cblf
Skin rash, Megaloblastic anemia, Stomatitis, Neutropenia ORPHA:79284
Wolcott-Rallison Syndrome
Exocrine pancreatic insufficiency, Lymphocytosis, Iron deficiency anemia, Neutropenia ORPHA:1667
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Neutrophilia, Minimal change glomerulonephritis, Hematochezia, Eczematoid dermatitis, Hepatitis, ... OMIM:620565
Methylmalonic Aciduria, Cbla Type
Vomiting, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:251100
Psoriasis 14, Pustular
Psoriasiform dermatitis, Leukocytosis, Pustule, Oligoarthritis, Neutrophilia, Cholangitis OMIM:614204
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Recurrent pneumonia, Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, Decreased circulatin... OMIM:619750
3-Methylglutaconic Aciduria, Type Viib
Leukopenia, Recurrent pneumonia, Thrombocytopenia, Neutropenia OMIM:616271
Classic Hodgkin Lymphoma
Skin rash, Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy ORPHA:391
Intellectual Developmental Disorder, X-Linked 107
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity OMIM:301013
Fanconi Anemia, Complementation Group I
Bone marrow hypocellularity, Neutropenia OMIM:609053
Pseudomyxoma Peritonei
Inflammation of the large intestine, Constipation, Lymphadenopathy, Intestinal obstruction ORPHA:26790
Shwachman-Diamond Syndrome 2
Normocytic anemia, Diarrhea, Exocrine pancreatic insufficiency, Thrombocytopenia, Neutropenia, St... OMIM:617941
Mevalonic Aciduria
Diarrhea, Vomiting, Fluctuating splenomegaly, Morbilliform rash, Hepatosplenomegaly, Leukocytosis... OMIM:610377
Hermansky-Pudlak Syndrome 10
Splenomegaly, Neutropenia OMIM:617050
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Recurrent aphthous stomatitis, T lymphocytopenia, Abnormal natural killer cell morphology, B lymp... OMIM:615966
Granulomatous Disease, Chronic, X-Linked
Discoid lupus rash, Recurrent pneumonia, Granuloma, Lymphadenitis, Eczematoid dermatitis, Osteomy... OMIM:306400
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemophagocytosis, Leukopenia, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Skin rash, Infectio... OMIM:603553
Pearson Marrow-Pancreas Syndrome
Vomiting, Exocrine pancreatic insufficiency, Sideroblastic anemia, Pancytopenia, Punctate keratit... OMIM:557000
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Bone marrow hypocellularity, Eczematoid dermatitis, Recurrent otitis media, Lymphopenia, Pancytop... OMIM:615688
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Autoimmune hemolytic anemia, Myositis, Lymphadenopathy, Panniculitis OMIM:619183
Relapsing Fever
Diarrhea, Vomiting, Leukopenia, Leukocytosis, Thrombocytopenia, Neutrophilia, Anemia ORPHA:91547
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Uveitis, Diarrhea, Vomiting, Erysipelas, Fasciitis, Leukocytosis, Splenomegaly, Intestinal obstru... ORPHA:32960
Rhabdoid Tumor
Anemia, Lymphadenopathy, Thrombocytopenia ORPHA:69077
Fanconi Anemia, Complementation Group E
Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia OMIM:600901
Ghosal Hematodiaphyseal Dysplasia
Bone marrow hypocellularity, Leukopenia, Refractory anemia, Thrombocytopenia OMIM:231095
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hemophagocytosis, Leukopenia, Splenomegaly, Infectious encephalitis, Lymphadenopathy, Thrombocyto... OMIM:267700
Glycogen Storage Disease Ib
Inflammation of the large intestine, Gout, Splenomegaly, Pancreatitis, Neutropenia OMIM:232220
Brucellosis
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Endocard... ORPHA:1304
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Pneumonia, Abnormal circulating interleukin concentration, Salmonella osteomyelitis, Lymphadenitis ORPHA:319552
Pneumocystosis
Interstitial pneumonitis, Increased circulating antibody level, Acute infectious pneumonia, Abnor... ORPHA:723
Pitt-Hopkins-Like Syndrome 1
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Ataxia, Motor stere... OMIM:610042
Graves Disease
Polyphagia, Hyperactivity, Irritability OMIM:275000
Porphyria Due To Ala Dehydratase Deficiency
Depression, Abnormal fear-induced behavior, Difficulty walking, Restlessness, Agitation ORPHA:100924
Fanconi Anemia, Complementation Group C
Bone marrow hypocellularity, Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopen... OMIM:227645
Fanconi Anemia, Complementation Group A
Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia OMIM:227650
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hematochezia, Inflammation of the large intestine, Lymphadenitis, Eczematoid dermatitis, Leukocyt... OMIM:615895
American Trypanosomiasis
Diarrhea, Skin rash, Splenomegaly, Infectious encephalitis, Achalasia, Lymphadenopathy, Myocarditis ORPHA:3386
Immunodeficiency 27B
Osteomyelitis, Salmonella osteomyelitis, Generalized lymphadenopathy OMIM:615978
Immunodeficiency 31C
Diarrhea, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Lymphopenia, Osteomyelitis, A... OMIM:614162
Scrub Typhus
Skin rash, Splenomegaly, Infectious encephalitis, Lymphadenopathy, Myocarditis, Anterior uveitis ORPHA:83317
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Gastroesophageal reflux, Dysphagia, Neutropenia OMIM:615471
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Microcytic anemia, Neutropenia OMIM:251900
Desmoplastic Small Round Cell Tumor
Anemia, Ileus, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:83469
Familial Mediterranean Fever
Diarrhea, Vomiting, Erysipelas, Leukocytosis, Splenomegaly, Chronic constipation, Crohn's disease... OMIM:249100
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Depression, Recurrent hand flapping, Irritabil... ORPHA:449291
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hemolytic anemia, Chronic otitis media ORPHA:169090
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:97290
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:319487
Fish-Eye Disease
Splenomegaly, Lymphadenopathy ORPHA:79292
Revesz Syndrome
Macrocytic anemia, Bone marrow hypocellularity, Aplastic anemia, Neutropenia OMIM:268130
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Diarrhea, Gastroesophageal reflux, Vomiting, Abnormal lymph node mor... ORPHA:85450
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteomyelitis, Splenomegaly, Abscess, Skin rash, Pustule, Neutrophilia, Stomatitis OMIM:612852
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior ORPHA:309246
Lig4 Syndrome
Acute leukemia, Pancytopenia, Leukocytosis, Lymphadenopathy ORPHA:99812
Saul-Wilson Syndrome
Neutropenia OMIM:618150
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia, Conjunctivitis,... ORPHA:537
Q Fever
Pneumonia, Granuloma, Hepatitis, Osteomyelitis, Hepatosplenomegaly, Splenomegaly, Cholecystitis, ... ORPHA:781
Mycosis Fungoides
Psoriasiform dermatitis, Eczematoid dermatitis, Lymphadenopathy OMIM:254400
Hypocomplementemic Urticarial Vasculitis
Diarrhea, Episcleritis, Splenomegaly, Skin rash, Lymphadenopathy, Arthritis, Inflammatory abnorma... ORPHA:36412
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruction, Per... ORPHA:343
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Vomiting, Erysipelas, Cervical lymphadenopathy, Skin rash, Chronic c... OMIM:142680
Neurodegeneration With Brain Iron Accumulation 2B
Gait ataxia, Emotional lability, Dysmetria, Hyperactivity, Bradykinesia, Dysphagia, Dysdiadochoki... OMIM:610217
Kaposi Sarcoma
Abnormality of the spleen, Diarrhea, Skin rash, Generalized lymphadenopathy ORPHA:33276
Ataxia-Telangiectasia
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Decreased proporti... OMIM:208900
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormal circulating interleukin concentration, Diarrhea, Vomiting, Increased circulating interfe... ORPHA:542323
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Hepatitis, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Neutropenia in presence of anti-neutr... ORPHA:228426
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Aggressive behavior, Hyperactivity ORPHA:85327
Staphylococcal Necrotizing Pneumonia
Pneumonia, Leukopenia, Leukocytosis, Acute infectious pneumonia, Neutrophilia ORPHA:36238
Adult Acute Respiratory Distress Syndrome
Pneumonia, Abnormal circulating interleukin concentration, Abnormality of tumor necrosis factor s... ORPHA:70578
Pediatric-Onset Graves Disease
Diarrhea, Keratitis, Episcleritis, Splenomegaly, Thrombocytopenia, Neutropenia in presence of ant... ORPHA:525731
Trichothiodystrophy
Increased mean corpuscular hemoglobin concentration, Eczematoid dermatitis, Panhypogammaglobuline... ORPHA:33364
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Neutropenia OMIM:618005
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Waldenström Macroglobulinemia
Normocytic anemia, Monoclonal immunoglobulin M proteinemia, Diarrhea, Gastrointestinal hemorrhage... ORPHA:33226
Pleural Mesothelioma
Dysphagia, Lymphadenopathy ORPHA:50251
Khan-Khan-Katsanis Syndrome
Anemia, Lymphopenia, Dysphagia, Neutropenia OMIM:618460
Fanconi Anemia, Complementation Group D2
Bone marrow hypocellularity, Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopen... OMIM:227646
Primary Sjögren Syndrome
Arteritis, Xerostomia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Increase... ORPHA:289390
Rothmund-Thomson Syndrome
Diarrhea, Aplastic anemia, Vomiting, Malar rash, Skin rash, Anemia, Neutropenia, Leukemia ORPHA:2909
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Gastroesophageal reflux, Vomiting, Hilar lymph node enlargement, Recurrent otitis media, Leukocyt... OMIM:620233
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Synovitis, Abnormal circulating interleukin concentration, Arthritis, Symmetric polyarthritis ORPHA:85435
Leigh Syndrome
Anemia, Dysphagia, Eczematoid dermatitis, Neutropenia ORPHA:506
Intellectual Developmental Disorder, Autosomal Dominant 54
Gastroesophageal reflux, Eczematoid dermatitis, Neutropenia, Chronic constipation OMIM:617799
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Diarrhea, Periodontitis, Ulcerative colitis, Gout, Enterocol... ORPHA:79259
Glycogen Storage Disease Ic
Inflammation of the large intestine, Cyclic neutropenia, Gout, Chronic pancreatitis, Stomatitis OMIM:232240
Oligoarticular Juvenile Idiopathic Arthritis
Abnormal circulating interleukin concentration, Rheumatoid arthritis, Increased circulating inter... ORPHA:85410
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia ORPHA:1302
Familial Mediterranean Fever
Diarrhea, Erysipelas, Leukocytosis, Splenomegaly, Intestinal obstruction, Skin rash, Orchitis, Pe... ORPHA:342
Pearson Syndrome
Bone marrow hypocellularity, Exocrine pancreatic insufficiency, Pancytopenia, Reticulocytosis, Sp... ORPHA:699
Congenital Syphilis
Pneumonia, Diarrhea, Keratitis, Extramedullary hematopoiesis, Hepatosplenomegaly, Synovitis, Panc... ORPHA:499009
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Thrombocytopenia, Vomiting, Megaloblastic anemia, Neutropenia OMIM:277400
Cohen Syndrome
Neutropenia ORPHA:193
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Hepatosplenomegaly, Chronic hepatitis, Erythroderma, Neutro... ORPHA:3260
Coccidioidomycosis
Pneumonia, Folliculitis, Granuloma, Abnormality of the spleen, Morbilliform rash, Osteomyelitis, ... ORPHA:228123
Lymphatic Filariasis
Lymphadenitis, Hypereosinophilia, Orchitis, Knee osteoarthritis, Abnormality of the lymphatic sys... ORPHA:2035
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Hip osteoarthritis, Hepatosplenomegaly, Synovitis, Knee osteoarthritis, Iridocyclitis, Oligoarthr... ORPHA:85408
Malt Lymphoma
Posterior uveitis, Constipation, Lymphadenopathy, Anemia, Mediastinal lymphadenopathy ORPHA:52417
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Self-biting OMIM:618314
Herpes Simplex Virus Encephalitis
Leukocytosis, Neutrophilia ORPHA:1930
Rothmund-Thomson Syndrome Type 1
Diarrhea, Aplastic anemia, Vomiting, Anemia, Neutropenia, Leukemia ORPHA:221008
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level, Neutropenia OMIM:271510
Cartilage-Hair Hypoplasia
Anemia, Decreased circulating antibody level, Neutropenia ORPHA:175
Cutaneous Neuroendocrine Carcinoma
Lymphoid leukemia, Chronic noninfectious lymphadenopathy ORPHA:79140
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Neutropenia ORPHA:79430
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Uveitis, Diarrhea, Vomiting, Lymphopenia, Abnormal lymphoc... ORPHA:99826
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Thrombocytopenia, Megaloblastic anemia, Stomatitis, Neutropenia ORPHA:79282
Rothmund-Thomson Syndrome Type 2
Diarrhea, Aplastic anemia, Vomiting, Anemia, Neutropenia, Leukemia ORPHA:221016
X-Linked Intellectual Disability, Nascimento Type
Recurrent cutaneous abscess formation, Neutropenia, Chronic constipation ORPHA:163956
Igg4-Related Submandibular Gland Disease
Xerostomia, Increased circulating IgE level, Increased circulating IgG4 level, Increased circulat... ORPHA:449432
Diamond-Blackfan Anemia 1
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:105650
Microcephaly 29, Primary, Autosomal Recessive
Emotional lability, Hyperactivity, Ataxia OMIM:620047
H Syndrome
Microcytic anemia, Hepatosplenomegaly, Psoriasiform dermatitis, Chronic rhinitis, Lymphadenopathy... ORPHA:168569
Pulmonary Non-Tuberculous Mycobacterial Infection
Diarrhea, Bronchiectasis, Lymphadenopathy ORPHA:411703
Acquired Hypertrichosis Lanuginosa
Chronic diarrhea, Lymphadenopathy ORPHA:2221
Middle Ear Neuroendocrine Tumor
Chronic diarrhea, Chronic noninfectious lymphadenopathy ORPHA:100084
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Pneumonia, Hematochezia, Diarrhea, Atopic dermatitis, Hepatitis, Pancytopenia... OMIM:615846
Systemic Lupus Erythematosus
Discoid lupus rash, Leukopenia, Malar rash, Lupus nephritis, Lymphadenopathy, Thrombocytopenia, A... ORPHA:536
Acute Interstitial Pneumonia
Reduced hematocrit, Bronchiectasis, Lymphadenopathy ORPHA:79126
Thyroid Lymphoma
Hashimoto thyroiditis, Dysphagia, Lymphadenopathy ORPHA:97285
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 8 concentration, Conjunctivitis, Increased circulating interfer... OMIM:256040
Igg4-Related Kidney Disease
Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Urinary bladder inflammation, Inc... ORPHA:449395
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Pneumonia, Diarrhea, Xerostomia, Inflammatory abnormality of the skin, Oral-pharyngeal dysphagia,... ORPHA:95455
Carney Triad
Gastrointestinal hemorrhage, Diarrhea, Lymphadenopathy, Anemia, Mediastinal lymphadenopathy ORPHA:139411
Histidinemia
Hyperactivity ORPHA:2157
Hennekam Syndrome
Erysipelas, Lymphopenia, Splenomegaly, Lymphangioma, Lymphadenopathy, Pulmonary lymphangiectasia,... ORPHA:2136
Crimean-Congo Hemorrhagic Fever
Diarrhea, Morbilliform rash, Pancytopenia, Erythema nodosum, Neutrophilia, Epididymitis, Lymphade... ORPHA:99827
Neurodegeneration With Brain Iron Accumulation 1
Phonic tics, Depression, Akinesia, Obsessive-compulsive trait, Motor tics, Gait disturbance, Hype... OMIM:234200
Nijmegen Breakage Syndrome
Recurrent pneumonia, Diarrhea, Recurrent otitis media, Autoimmune hemolytic anemia, Dysgammaglobu... OMIM:251260
Argininemia
Spastic gait, Irritability, Hyperactivity, Anorexia OMIM:207800
Neuroblastoma
Anemia, Chronic diarrhea, Lymphadenopathy, Thrombocytopenia ORPHA:635
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Recurrent pneumonia, Decreased proportion of CD8-positive T cell... ORPHA:508533
3-Methylglutaconic Aciduria, Type Viii
Dysphagia, Neutropenia OMIM:617248
Farber Disease
Hepatosplenomegaly, Lymphadenopathy, Arthritis, Thrombocytopenia, Anemia, Chronic diarrhea ORPHA:333
Poems Syndrome
Polycythemia, Splenomegaly, Increased circulating antibody level, Lymphadenopathy, Thrombocytosis ORPHA:2905
Multiple Myeloma
Splenomegaly, Increased circulating IgA level, Lymphadenopathy, Anemia, Increased circulating IgG... ORPHA:29073
Histiocytosis-Lymphadenopathy Plus Syndrome
Cervical lymphadenopathy, Hepatosplenomegaly, Episcleritis, Splenomegaly, Lymphadenopathy, Histio... OMIM:602782
Familial Pancreatic Carcinoma
Peritoneal abscess, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Lymphadenopathy, Inter... ORPHA:1333
Progeria-Short Stature-Pigmented Nevi Syndrome
Microcytic anemia, T lymphocytopenia, Gastroesophageal reflux, Episodic vomiting ORPHA:2959
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Depression, Aggressive behavior, Hyperactivity, Ataxia, Choreoathetosis OMIM:612716
Melkersson-Rosenthal Syndrome
Inflammatory abnormality of the skin, Cheilitis, Lymphadenopathy ORPHA:2483
Medullary Thyroid Carcinoma
Diarrhea, Dysphagia, Lymphadenopathy ORPHA:1332
Squamous Cell Carcinoma Of The Anal Canal
Intestinal bleeding, Lymphadenopathy ORPHA:424019
Anaplastic Thyroid Carcinoma
Dysphagia, Lymphadenopathy ORPHA:142
Leukocyte Adhesion Deficiency Type Ii
Recurrent pneumonia, Keratitis, Microcytic anemia, Recurrent otitis media, Leukocytosis, Abnormal... ORPHA:99843
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Secretory diarrhea, Cervical lymphadenopathy, Lymphopenia, Decreased CD4:CD8 ... OMIM:619573
Sarcoidosis
Bronchiectasis, Parotitis, Abnormal lymph node morphology, Leukopenia, Increased T cell count, Eo... ORPHA:797
Igg4-Related Ophthalmic Disease
Keratitis, Increased circulating IgE level, Increased circulating IgG4 level, Orchitis, Eosinophi... ORPHA:449563
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Pancytopenia, Splenomegaly, Increased circulating antibody l... OMIM:181000
Pituitary Adenoma 4, Acth-Secreting
Emotional lability, Abnormal fear-induced behavior OMIM:219090
Yellow Fever
Diarrhea, Vomiting, Leukocytosis, Skin rash, Hematemesis, Thrombocytopenia, Neutrophilia, Increas... ORPHA:99829
Meige Disease
Lymph node hypoplasia, Recurrent skin infections, Absence of lymph node germinal center, Recurren... ORPHA:90186
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Transient neutropenia, Chronic neutropenia ORPHA:500095
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hashimoto thyroiditis, Abnormal B cell morphology, Aplasia of the thymus, T lymphocytopenia OMIM:618223
Igg4-Related Dacryoadenitis And Sialadenitis
Xerostomia, Increased circulating IgG4 level, Myositis, Increased circulating IgA level, Keratoco... ORPHA:79078
Behçet Disease
Gastrointestinal hemorrhage, Recurrent aphthous stomatitis, Splenomegaly, Infectious encephalitis... ORPHA:117
Thauvin-Robinet-Faivre Syndrome
Transient neutropenia OMIM:617107
Neuroendocrine Tumor Of Stomach
Protracted diarrhea, Chronic noninfectious lymphadenopathy, Iron deficiency anemia, Hematemesis, ... ORPHA:100075
Aspartylglucosaminuria
Vacuolated lymphocytes, Diarrhea, Acne, Neutropenia OMIM:208400
Pancreatoblastoma
Vomiting, Diarrhea, Abnormal lymph node morphology ORPHA:677
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Vomiting, Polysplenia, Exocrine pancreatic insufficiency, Splenomegaly, Lymphad... OMIM:619418
Familial Gestational Hyperthyroidism
Hyperactivity, Agitation ORPHA:99819
Kawasaki Disease
Diarrhea, Hepatitis, Cervical lymphadenopathy, Leukocytosis, Skin rash, Cholecystitis, Arthritis,... ORPHA:2331
Blau Syndrome
Posterior uveitis, Xerostomia, Keratitis, Splenomegaly, Skin rash, Synovitis, Iridocyclitis, Lymp... ORPHA:90340
Tangier Disease
Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Orange discolored tonsils, Thrombocyto... ORPHA:31150
Plague
Inflammation of the large intestine, Diarrhea, Lymphadenitis, Vomiting, Chapped lip, Bloody diarr... ORPHA:707
Riddle Syndrome
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Diarrhea, Decreased circulating ... ORPHA:420741
Ileal Neuroendocrine Tumor
Iron deficiency anemia, Lymphadenopathy, Episodic vomiting, Nausea, Intermittent diarrhea ORPHA:100078
Nephroblastoma
Lymphadenopathy ORPHA:654
Sponastrime Dysplasia
Recurrent pneumonia, Decreased circulating antibody level, Neutropenia ORPHA:93357
Chikungunya
Diarrhea, Vomiting, Cervical lymphadenopathy, Skin rash, Infectious encephalitis, Crusting erythe... ORPHA:324625
Leptospirosis
Uveitis, Diarrhea, Hepatitis, Skin rash, Optic neuritis, Lymphadenopathy, Thrombocytopenia, Peric... ORPHA:509
Cushing Syndrome Due To Ectopic Acth Secretion
Diarrhea, Abnormal lymph node morphology, Neoplasm of the thymus, Lymphopenia, Leukocytosis, Recu... ORPHA:99889
Autosomal Recessive Malignant Osteopetrosis
Splenomegaly, Otitis media, Chronic rhinitis, Lymphadenopathy, Anemia ORPHA:667
Malakoplakia
Inflammatory abnormality of the skin, Diarrhea, Urinary bladder inflammation, Skin rash, Follicul... ORPHA:556
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,... ORPHA:353281
Klatskin Tumor
Lymphadenopathy ORPHA:99978
African Trypanosomiasis
Myelitis, Vomiting, Diarrhea, Keratitis, Hepatosplenomegaly, Splenomegaly, Optic neuritis, Lympha... ORPHA:3385
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Pulmonary lymphangiomyomatosis, Lymphadenopathy, Abnormality of the ... ORPHA:538
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,... ORPHA:353277
Adenocarcinoma Of The Anal Canal
Intestinal bleeding, Lymphadenopathy ORPHA:424016

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 Il1rl2

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 Il1rl2.

No publications found that use IMPC mice or data for Il1rl2.

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MGI Allele Allele Type Produced
Il1rl2tm384302(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Il1rl2em1(IMPC)Mbp Exon Deletion Mice, Tissue

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