Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
integrin beta 7
Synonyms:
N/A

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Itgb7 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 Itgb7 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Inflammatory Bowel Disease 29
Crohn's disease, Ulcerative colitis OMIM:618077
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Immunodeficiency 24
Severe varicella zoster infection, Decreased specific pneumococcal antibody level, Defective T ce... OMIM:615897
Diarrhea 8, Secretory Sodium, Congenital
Secretory diarrhea, Abdominal distention, Inflammation of the large intestine, Elevated fecal sodium OMIM:616868
Inflammatory Bowel Disease 28, Autosomal Recessive
Folliculitis, Pyoderma, Perianal abscess, Crohn's disease, Enterocolitis, Colitis, Hematochezia OMIM:613148
Enterocolitis
Abdominal distention, Ulcerative colitis, Hematochezia, Enterocolitis OMIM:226150
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Vomiting, Abdominal distention, Abnormality of enteric ganglion morphology... OMIM:142623
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Inflammatory Bowel Disease (Crohn Disease) 30
Bloody diarrhea, Abnormal intestine morphology, Vomiting, Esophagitis, Duodenitis, Chronic diarrh... OMIM:619079
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Bloody diarrhea, Ulcerative colitis OMIM:619398
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Rectovaginal fistula, Perianal abscess, Enterocutaneous fistula, Enterocolitis OMIM:612567
Immunodeficiency 37
Decreased circulating antibody level, Infectious encephalitis, Colitis OMIM:616098
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Intestinal obstruction, Crohn's disease, Recurrent aphthous ... OMIM:266600
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circl... OMIM:618987
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Colitis, Perioral eczema, Recurrent aphthous stomatitis, Diarrhea, Recurrent sinusitis OMIM:613960
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Decreased specific pneumococcal antibody level, Minimal change glomerulonephritis, Colitis OMIM:617006
Immunodeficiency 70
Decreased circulating total IgA, Celiac disease, Decreased circulating total IgG, Decreased circu... OMIM:618969
Immunodeficiency, Common Variable, 11
Inflammation of the large intestine, Mucoid diarrhea, Decreased circulating IgG level, Increased ... OMIM:615767
Immunodeficiency 14B, Autosomal Recessive
Inflammation of the large intestine, Decreased circulating IgA level, Reduced natural killer cell... OMIM:619281
Diverticulosis, Small-Intestinal
Duodenal diverticula, Jejunal diverticula, Rheumatoid arthritis, Thyroiditis, Jejunoileal diverti... OMIM:223320
Immunodeficiency 14A, Autosomal Dominant
Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... OMIM:615513
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can... OMIM:242870
5-Oxoprolinase Deficiency
Diarrhea, Abdominal pain, Vomiting, Enterocolitis OMIM:260005
Hyperlipoproteinemia, Type Id
Colitis, Splenomegaly OMIM:615947
Immunodeficiency 50
Neutropenia, Decreased circulating antibody level, Recurrent urinary tract infections, Lymphopeni... OMIM:300988
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, Recurrent respiratory infections, T lymphocytopenia, Decreased circulating IgG... OMIM:233650
Immunodeficiency, Common Variable, 1
Recurrent bacterial infections, B lymphocytopenia, Decreased proportion of class-switched memory ... OMIM:607594
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Hepatitis, Decreased circulating antibody leve... OMIM:300635
Inflammatory Bowel Disease 11
Diarrhea, Inflammation of the large intestine, Abdominal pain, Hematochezia OMIM:191390
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia, Recurrent otitis media, Recurrent infections OMIM:616941
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Agammaglobulinemia, Neutropenia, Recurrent infections OMIM:615214
Immunodeficiency 60 And Autoimmunity
Bronchiectasis, Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, C... OMIM:618394
Immunodeficiency 15A
Recurrent otitis media, Chronic mucocutaneous candidiasis, Decreased proportion of CD4-positive h... OMIM:618204
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Recurrent opportunistic infections, Lack of T cell function, Recurrent otitis ... ORPHA:277
Cernunnos-Xlf Deficiency
Recurrent bacterial infections, B lymphocytopenia, Recurrent viral infections, Decreased circulat... ORPHA:169079
Immunodeficiency 84
Recurrent bacterial infections, B lymphocytopenia, Splenomegaly, Perianal abscess, Persistent EBV... OMIM:619437
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Recurrent bronchitis, Recurrent ... OMIM:613501
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Lymphadenopathy, Decreased circulating antibody level, Abnormal natural killer cell physiology, S... OMIM:613101
Visceral Myopathy 2
Dysphagia, Rectal prolapse, Megaduodenum, Intestinal pseudo-obstruction, Volvulus, Esophagitis, G... OMIM:619350
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Lymphadenopathy, Recurrent infections, Decreased proportion of CD3-positive T cells,... ORPHA:169154
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Chronic active Epstein-Barr virus infection, Severe varicella zoster infection, Mediastinal lymph... OMIM:300853
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections, Neutropenia, Decreased circulating IgA level, Impaired memory B c... OMIM:606843
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent bacterial infections, Neutropenia, Recurrent fungal infections, Recurrent viral infecti... OMIM:614868
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Sepsis, Severe varicella zoster infection, Neutropenia, Hepatosplenomegaly, Pancytopenia, Monocyt... OMIM:618986
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Neutropenia, Leukopenia, Anemia, Recurrent infections, Splenomegaly, Increased circulating antibo... OMIM:615285
Immunodeficiency 76
B lymphocytopenia, Lymphadenopathy, Splenomegaly, Recurrent pneumonia, Lymphopenia, Recurrent bro... OMIM:619164
Immunodeficiency 72 With Autoinflammation
Increased B cell count, Herpes simplex encephalitis, Increased proportion of memory T cells, Lymp... OMIM:618982
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Reduced natural killer cell activity, Recurrent infections, Decre... OMIM:614493
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Bronchiectasis, Decreased circulating antibody level, Gastri... OMIM:618108
Whim Syndrome 1
Recurrent bacterial infections, Neutropenia, Abnormal morphology of female internal genitalia, De... OMIM:193670
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media, Neutrop... OMIM:616022
Agammaglobulinemia 1, Autosomal Recessive
Recurrent bacterial infections, B lymphocytopenia, Agammaglobulinemia, Neutropenia, Recurrent oti... OMIM:601495
Ras-Associated Autoimmune Leukoproliferative Disorder
Neutropenia, Monocytosis, Leukemia, Recurrent infections, Splenomegaly, Autoimmune thrombocytopen... OMIM:614470
Gastroesophageal Reflux
Barrett esophagus, Gastroesophageal reflux, Esophagitis, Esophageal neoplasm OMIM:109350
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Recurrent opportunistic infections, Failure to thrive secondary to recurrent infections, Lymphade... OMIM:608971
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Defective T cell proliferation, Mediastinal lymphadenopathy, Increased ci... OMIM:618534
Agammaglobulinemia 4, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Recurrent otitis media, Recurren... OMIM:613502
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... OMIM:616452
Immunodeficiency 17
Recurrent otitis media, Decreased proportion of CD8-positive T cells, Recurrent respiratory infec... OMIM:615607
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Lymphadenopathy, Abscess, Chronic oral ca... OMIM:150550
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, Recurrent opportunistic infections, Failure to thrive secondary to recurrent i... OMIM:601457
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Decreased circulating antibody level, Bone marrow hypocellularity, Colitis OMIM:615190
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis ORPHA:88643
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Decreased proportion of CD4-positive helper T cells, Decreased p... OMIM:312863
Autoimmune Lymphoproliferative Syndrome, Type Iii
Lymphadenopathy, Recurrent infections, Splenomegaly, Increased proportion autoreactive unresponsi... OMIM:615559
Reticular Dysgenesis
Sepsis, Lack of T cell function, Leukopenia, Impaired T cell function, Hypoplasia of the thymus, ... OMIM:267500
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent staphylococcal infections, Neutropenia, Recurrent strep... ORPHA:70592
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Immunodeficiency 13
B lymphocytopenia, Recurrent otitis media, Recurrent upper respiratory tract infections, Recurren... OMIM:615518
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
B lymphocytopenia, Decreased specific antibody response to polysaccharide vaccine, Recurrent uppe... ORPHA:70593
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Infectious encephalitis, Lymphadenopathy, Reduced natural killer cell activity, Decr... OMIM:308240
Pseudomyxoma Peritonei
Nausea and vomiting, Inflammation of the large intestine, Lymphadenopathy, Intestinal obstruction... ORPHA:26790
Combined Immunodeficiency Due To Dock8 Deficiency
B lymphocytopenia, Recurrent viral infections, Onychomycosis, Increased circulating IgE level, Re... ORPHA:217390
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia, Recurrent infections OMIM:617014
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, ... OMIM:619220
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Recurrent bacterial infections, Abnormal B cell count, Decreased circulating IgA level, Recurrent... ORPHA:331206
Bare Lymphocyte Syndrome, Type Ii
Cholangitis, Agammaglobulinemia, Infectious encephalitis, Villous atrophy, Protracted diarrhea, C... OMIM:209920
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circul... OMIM:616873
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Lymphadenopathy, Hepatosplenomegaly, Recur... OMIM:619126
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Decreased circula... OMIM:300400
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections, Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocyto... OMIM:202700
Omenn Syndrome
Recurrent bacterial infections, B lymphocytopenia, Lymphadenopathy, Recurrent fungal infections, ... OMIM:603554
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent infection of the gastrointestinal tract, B lymphocytopenia, Impaired lymphocyte transfo... ORPHA:35078
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Eczema, Inflammation of the large intestine, Dysphagia, Colitis, Decreased circulating IgG level,... OMIM:608809
Cd8 Deficiency, Familial
Recurrent bacterial infections, Recurrent viral infections, Recurrent respiratory infections, Abs... OMIM:608957
Immunodeficiency, Common Variable, 3
Recurrent bacterial infections, Decreased proportion of class-switched memory B cells, Reduced is... OMIM:613493
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Recurrent oppo... ORPHA:911
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Recurrent bronchopulmonary infections, Neutropenia, Decreased circulating total IgM OMIM:610798
Immunodeficiency 21
Abnormal natural killer cell morphology, Neutropenia, Recurrent fungal infections, Recurrent vira... OMIM:614172
Selective Igm Deficiency
Sepsis, Severe varicella zoster infection, Recurrent herpes, Neutropenia in presence of anti-neut... ORPHA:331235
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Cystic acne, Sterile arthritis, Acne, Arthritis, Hepatosplenomegaly, Colitis OMIM:604416
Immunodeficiency 46
Sepsis, Neutropenia, Recurrent sinopulmonary infections, Chronic oral candidiasis, Decreased circ... OMIM:616740
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Splenomegaly, Hypersplenism, Decreased helper T cell proportion, Pancytopenia OMIM:183350
Immunodeficiency 68
B lymphocytopenia, Sepsis, Lymphadenitis, Abscess, T lymphocytopenia, Abnormal natural killer cel... OMIM:612260
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Lymphadenopathy, Splenomegaly, Uveitis, Decreased circulatin... OMIM:614700
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections, Neutropenia OMIM:300299
Autoinflammatory Syndrome, Familial, Behcet-Like
Ileal ulcer, Colitis, Skin rash, Anterior uveitis OMIM:616744
Autoinflammation With Infantile Enterocolitis
Feeding difficulties in infancy, Villous atrophy, Reduced natural killer cell activity, Splenomeg... OMIM:616050
Trimethylaminuria
Anemia, Recurrent pneumonia, Neutropenia, Splenomegaly OMIM:602079
Combined Immunodeficiency Due To Partial Rag1 Deficiency
B lymphocytopenia, Sepsis, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T ... ORPHA:231154
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Recurrent bacterial infections, B lymphocytopenia, Decreased circulating IgA level, Recurrent fun... OMIM:102700
Adult Idiopathic Neutropenia
Recurrent bacterial infections, Neutropenia, Helicobacter pylori infection, Monocytosis, Recurren... ORPHA:2688
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating IgA level, Interstitial pneumonitis, Ulcerative colitis, Decreased circulat... OMIM:614878
Immunodeficiency By Defective Expression Of Mhc Class Ii
Neutropenia, Recurrent protozoan infections, Recurrent herpes, Neutropenia in presence of anti-ne... ORPHA:572
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Recurrent bronchopulmonary infections, Neutropenia ORPHA:90023
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Atopic dermatitis, Lactose intolerance, Feeding difficulties in infancy, Allergic rhinitis, Dysph... ORPHA:411696
Secondary Short Bowel Syndrome
Aganglionic megacolon, Villous atrophy, Abnormality of the small intestine, Vomiting, Abdominal d... ORPHA:95427
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, B lymphocytopenia, Recurrent bacterial infections, Severe varicella zoster infe... OMIM:606367
Immunodeficiency 58
Eczema, Allergic rhinitis, Decreased specific antibody response to vaccination, Dysphagia, Helico... OMIM:618131
Mu-Heavy Chain Disease
Abnormal B cell count, Lymphadenopathy, Anemia, Splenomegaly, Increased circulating antibody level ORPHA:100024
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Sepsis, Recurrent opportunistic infections, Recurrent herpes, Severe recurrent varicella, Decreas... ORPHA:276
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Reduced antigen-specific T cell proliferation, Reduced delayed hypersen... OMIM:617241
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... OMIM:619374
Immunodeficiency 55
Lymphadenopathy, Neutropenia, Recurrent infections OMIM:617827
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Cutaneous anergy, Recurrent otitis me... OMIM:600802
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Eczema, Lymphadenitis, Lymphadenopathy, Splenomegaly, Crohn's disease, Perianal abscess, Impaired... OMIM:618935
Autoimmune Hepatitis
Inflammation of the large intestine, Hepatocellular carcinoma, Sclerosing cholangitis, Fulminant ... ORPHA:2137
Immunodeficiency 25
Recurrent herpes, Complete or near-complete absence of specific antibody response to tetanus vacc... OMIM:610163
Pyoderma Gangrenosum
Inflammation of the large intestine, Pustule, Myositis, Increased circulating antibody level, Rhe... ORPHA:48104
Transcobalamin Deficiency
Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulat... ORPHA:859
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Immunodeficiency 92
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... OMIM:619652
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, Recurrent upper respiratory tract infection... OMIM:618806
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Chronic infection, Neutropenia, Normocytic anemia, Megaloblastic er... ORPHA:75564
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Reduced natural killer cell cou... OMIM:619510
Immunodeficiency With Hyper-Igm, Type 1
Recurrent bacterial infections, Sepsis, Neutropenia, Decreased circulating IgA level, Impaired me... OMIM:308230
Thymic Aplasia
Recurrent bacterial infections, Sepsis, Recurrent infection of the gastrointestinal tract, Decrea... ORPHA:83471
Refractory Anemia
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Bone marrow hypocellulari... ORPHA:98826
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Acute myeloi... OMIM:619041
Trichohepatoenteric Syndrome 2
Diarrhea, Hepatitis, Villous atrophy, Colitis OMIM:614602
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Eczema, Abnormal intestine morphology, Tubulointerstitial nephritis, Lymphadenopathy, Hepatitis, ... ORPHA:37042
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Psoriasiform dermatitis, Eczema, Bronchiectasis, Decreased circulating IgA level, Lymphadenopathy... OMIM:616100
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD4-pos... OMIM:611926
Amed Syndrome, Digenic
Leukopenia, Anemia, Bone marrow hypocellularity, Acute myeloid leukemia, Thrombocytopenia, Hypopl... OMIM:619151
Familial Hemophagocytic Lymphohistiocytosis
Infectious encephalitis, Erythroderma, Lymphadenopathy, Reduced natural killer cell activity, Dec... ORPHA:540
Esophagitis, Eosinophilic, 1
Dysphagia, Esophagitis, Vomiting OMIM:610247
Esophagitis, Eosinophilic, 2
Dysphagia, Esophagitis, Vomiting OMIM:613412
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Pustule, Myositis, Lymphadenopathy, Acne, Arthritis, Increased inflammatory response, Crohn's dis... ORPHA:69126
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent bacterial infections, Infectious encephalitis, Enteroviral dermatomyositis syndrome, Py... OMIM:307200
Cyclic Neutropenia
Sinusitis, Peritonitis, Lymphadenopathy, Periodontitis, Perianal abscess, Otitis media, Recurrent... ORPHA:2686
X-Linked Lymphoproliferative Disease
Lymphadenopathy, Decreased circulating antibody level, Splenomegaly, Absent natural killer cells,... ORPHA:2442
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent ear infections, Recurrent viral infections, Absence of lymph node germinal center, Anem... ORPHA:79124
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Decreased proportion of marginal zone B ce... OMIM:619375
Pgm3-Cdg
Sepsis, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Recurrent infections, ... ORPHA:443811
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:603909
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Persistence ... OMIM:618849
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections, Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Iga Pemphigus
Pustule, Increased circulating IgA level, Neutrophilic infiltration of the skin, Monoclonal eleva... ORPHA:555905
Felty Syndrome
Sepsis, Neutropenia, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Bone marrow hypocel... ORPHA:47612
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Sepsis, Abnormal size of pituitary gland, Recurrent bronchitis, Recurrent viral infections, Abnor... ORPHA:293978
Shigellosis
Myocarditis, Bloody mucoid diarrhea, Bloody diarrhea, Tenesmus, Ulcerative colitis, Vomiting, Pne... ORPHA:810
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections, Monocytopenia, Neutropenia ORPHA:86788
Idiopathic Aplastic Anemia
Neutropenia, Anemia, Bone marrow hypocellularity, Recurrent infections, Reticulocytopenia, Pancyt... ORPHA:88
Spondyloarthropathy, Susceptibility To, 1
Psoriasiform dermatitis, Inflammation of the large intestine, Hip osteoarthritis, Oligoarthritis,... OMIM:106300
Immunodeficiency 82 With Systemic Inflammation
Duodenal ulcer, Lymphadenopathy, Hepatitis, Splenomegaly, Gastritis, Crohn's disease, Decreased c... OMIM:619381
Congenital Disorder Of Glycosylation, Type Iil
Abnormal cortical gyration, Inflammation of the large intestine, Esophageal varix, Impaired T cel... OMIM:614576
Wiskott-Aldrich Syndrome
Sepsis, Impaired lymphocyte transformation with phytohemagglutinin, Recurrent herpes, Decreased c... OMIM:301000
Immunodeficiency 67
Increased circulating IgE level, Recurrent staphylococcal infections, Transient neutropenia, Recu... OMIM:607676
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va... OMIM:617765
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Autosomal Dominant Severe Congenital Neutropenia
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Acute lymphobl... ORPHA:486
Poikiloderma With Neutropenia
Neutropenia, Recurrent otitis media, Splenomegaly, Recurrent pneumonia, Recurrent sinusitis OMIM:604173
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Inflammation of the large intestine, Acne, Arthritis, Palmoplantar pustu... ORPHA:324964
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Membranous nephropathy, Colonic eosinophilia, Hepatosplenomegaly, Eosinophilic... OMIM:618999
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Autoimmune Lymphoproliferative Syndrome
Recurrent aphthous stomatitis, Lymphadenopathy, Hepatitis, Splenomegaly, Gastritis, Hypersplenism... ORPHA:3261
Zygomycosis
Sinusitis, Myocarditis, Colon perforation, Fasciitis, Hepatitis, Melena, Gastritis, Gastrointesti... ORPHA:73263
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Bloody diarrhea, Defective T cell proliferation, Increased circulating IgG level, Eosinophilic in... OMIM:618213
Hermansky-Pudlak Syndrome 1
Inflammation of the large intestine, Abdominal pain, Hematochezia, Colitis OMIM:203300
Hemophagocytic Syndrome Associated With An Infection
Chronic active Epstein-Barr virus infection, Neutropenia, Anemia, Splenomegaly, Severe cytomegalo... ORPHA:158048
Amoebiasis Due To Entamoeba Histolytica
Constrictive pericarditis, Bloody diarrhea, Protracted diarrhea, Gastrointestinal dysmotility, Ac... ORPHA:67
Wiskott-Aldrich Syndrome, Autosomal Dominant
Sinusitis, Eczema, Inflammation of the large intestine, Pneumonia, Increased circulating IgA leve... OMIM:600903
Sapho Syndrome
Psoriasiform dermatitis, Inflammation of the large intestine, Pustule, Synovitis, Acne, Arthritis... ORPHA:793
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Recurrent bacterial infections, B lymphocytopenia, Decreased circulating total IgA, Decreased spe... ORPHA:221139
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia, Bone marrow hypocellularity OMIM:617243
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent bacterial infections, Sepsis, Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the t... OMIM:612541
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
B lymphocytopenia, Neutropenia, Leukopenia, Bone marrow hypocellularity, Anemia, Recurrent lower ... ORPHA:508542
Hermansky-Pudlak Syndrome 2
Recurrent bacterial infections, Neutropenia, Enlarged platelet dense granules, Chronic oral candi... OMIM:608233
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphadenopathy, Inflammation of the large intestine OMIM:617718
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... ORPHA:521
Whim Syndrome
Recurrent bacterial infections, Sepsis, Neutropenia, Cervix cancer, Lymphadenitis, Decreased circ... ORPHA:51636
Immunodeficiency 23
Severe varicella zoster infection, Neutropenia, Abscess, Increased circulating IgG level, Chronic... OMIM:615816
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Neutropenia, Coombs-positive hemolytic anemia, Lymphadenopathy, Anemia, Increased circulating IgE... OMIM:304790
Aregenerative Anemia
Neutropenia, Abnormal proportion of CD8-positive T cells, Lymphadenopathy, Bone marrow hypocellul... ORPHA:101096
Chediak-Higashi Syndrome
Neutropenia, Leukopenia, Lymphadenopathy, Abnormal dense granules, Giant neutrophil granules, Ane... OMIM:214500
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Bloody diarrhea, Rectal prolapse, Vomiting, Peritonitis, Acute colitis, Intestinal perforation, P... ORPHA:90038
Epidermodysplasia Verruciformis, Susceptibility To, 5
Cryptococcal meningitis, Persistent human papillomavirus infection, T lymphocytopenia, Lymphopenia OMIM:618309
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Chronic diarrhea, Colitis, Recurrent pneumonia, Bronchiectasis OMIM:301220
Nijmegen Breakage Syndrome
Recurrent infection of the gastrointestinal tract, B lymphocytopenia, Recurrent bronchitis, Recur... OMIM:251260
Thymoma
Myositis, Neoplasm of the gastrointestinal tract, Decreased circulating antibody level, Rheumatoi... ORPHA:99867
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Inflammation of the large intestine, Interface hepatitis, Granulomatous cholangitis, Increased ci... ORPHA:562639
Ataxia-Telangiectasia
Recurrent bronchitis, Leukemia, Decreased circulating IgA level, Hypoplasia of the thymus, Defect... OMIM:208900
Anemia, Sideroblastic, 5
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia OMIM:619523
Syndromic Diarrhea
Bloody diarrhea, Villous atrophy, Hypoplasia of the thymus, Intractable diarrhea, Hepatoblastoma,... ORPHA:84064
Pancreatic Triacylglycerol Lipase Deficiency
Keratoconjunctivitis sicca, Colitis, Abdominal distention, Steatorrhea, Exocrine pancreatic insuf... ORPHA:309031
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Leydig Cell Hypoplasia
Hypospadias, Hyoplasia of the Leydig cells, Aplasia of the uterus, Abnormal internal genitalia, A... ORPHA:755
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Cholangitis, Eczema, Feeding difficulties in infancy, Eryth... ORPHA:3260
Ovarian Dysgenesis 2
Abnormality of the uterus, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Gonad... OMIM:300510
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Kindler Epidermolysis Bullosa
Dysphagia, Inflammation of the large intestine, Cheilitis, Abnormality of the anus, Esophagitis, ... ORPHA:2908
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Necrotizing enterocolitis, Gastroesophageal reflux, Episodic vomiting OMIM:201475
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis, Decreased circulating antibody ... OMIM:616084
Sepsis In Premature Infants
Vomiting, Functional abnormality of the gastrointestinal tract, Gastrointestinal dysmotility, Abd... ORPHA:90051
Primary Sclerosing Cholangitis
Neoplasm of the gallbladder, Cholangiocarcinoma, Celiac disease, Hepatocellular carcinoma, Abnorm... ORPHA:171
Sandifer Syndrome
Feeding difficulties, Esophagitis, Hiatus hernia, Hematemesis, Gastroesophageal reflux, Episodic ... ORPHA:71272
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
B lymphocytopenia, Infectious encephalitis, Recurrent herpes, Neutropenia in presence of anti-neu... ORPHA:391487
46,Xy Sex Reversal 11
Gonadal dysgenesis with female appearance, male, Vanishing testis, Aplasia of the uterus, Elevate... OMIM:273250
Alg12-Cdg
Hypospadias, B lymphocytopenia, Sepsis, Recurrent ear infections, Partial absence of specific ant... ORPHA:79324
Sarcoidosis, Susceptibility To, 1
Abnormal salivary gland morphology, Inflammation of the large intestine, Anorexia, Mediastinal ly... OMIM:181000
Reactive Arthritis
Inflammation of the large intestine, Pericarditis, Pustule, Arthritis, Osteomyelitis, Recurrent a... ORPHA:29207
Plague
Bloody diarrhea, Inflammation of the large intestine, Anorexia, Enterocolitis, Vomiting, Endocard... ORPHA:707
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Bloody diarrhea, Gastrointestinal infarctions, Abdominal cramps, Vomiting, Pneumonia... ORPHA:544482
46,Xy Sex Reversal 3
Sex reversal, Elevated circulating follicle stimulating hormone level, Penoscrotal hypospadias, E... OMIM:612965
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Testicular dysgenesis, Gonadal dysgenesis with female appearance, male, Abnormal vagina morpholog... ORPHA:168563
Complete Androgen Insensitivity Syndrome
Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian tube, Abnormal morphology of female in... ORPHA:99429
Sweet Syndrome
Predominantly dermal neutrophilic infiltrate, Inflammation of the large intestine, Pustule, Myosi... ORPHA:3243
Progressive Multifocal Leukoencephalopathy
Meningitis, Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T c... ORPHA:217260
Onychotrichodysplasia And Neutropenia
Chronic neutropenia, Lymphocytosis, Neutropenia, Recurrent infections OMIM:258360
Premature Ovarian Failure 7
Elevated circulating follicle stimulating hormone level, Clitoral hypertrophy, Premature ovarian ... OMIM:612964
Cocaine Intoxication
Bloody diarrhea, Tubulointerstitial nephritis, Gastrointestinal infarctions, Vomiting, Nausea, In... ORPHA:90068
Wiskott-Aldrich Syndrome
Sinusitis, Eczema, Inflammation of the large intestine, Abnormal platelet function, Chronic otiti... ORPHA:906
Partial Androgen Insensitivity Syndrome
Hypospadias, Aplasia of the uterus, Bifid scrotum, Fused labia majora, Azoospermia, Urogenital si... ORPHA:90797
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Hepatocellular carcinoma, Protuberant abdomen, Gout, Hepatoc... ORPHA:79259
Diethylstilbestrol Syndrome
Hypospadias, Testicular dysgenesis, Abnormal reproductive system morphology, Abnormality of the u... ORPHA:1916
Congenital Factor Xiii Deficiency
Inflammation of the large intestine, Hepatic failure ORPHA:331
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased circulating antibody level, Increased circulating IgE ... ORPHA:508533
Hydatidiform Mole
Anemia, Enlarged uterus ORPHA:99927
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Feeding difficulties, Esophagitis, Gastroesophageal reflux ORPHA:79350
Thrombocytopenia-Absent Radius Syndrome
Leukocytosis, Aplasia of the uterus, Pancreatic cysts, Decreased circulating antibody level, Anem... OMIM:274000
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypospadias, Aplasia of the uterus, Precocious puberty in females, Bifid scrotum, Elevated circul... ORPHA:90793
Hereditary Hyperekplexia
Hiatus hernia, Esophagitis, Gastroesophageal reflux ORPHA:3197
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis OMIM:266810
Lumbar Syndrome
Hypospadias, Hypoplastic labia majora, Bifid scrotum, Bifid uterus, Myelomeningocele, Micropenis,... ORPHA:83628
Microgastria-Limb Reduction Defect Syndrome
Abnormal cortical gyration, Microgastria, Perineal fistula, Abnormality of the spleen, Rectovagin... ORPHA:2538
Mullerian Aplasia And Hyperandrogenism
Aplasia of the uterus, Aplasia of the vagina, Aplasia/Hypoplasia of the fallopian tube OMIM:158330
Immunodeficiency 87 And Autoimmunity
Cleft palate, Villous atrophy, Feeding difficulties, Increased fecal calprotectin level, Hepatic ... OMIM:619573
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Aplasia of the uterus, Abnormality of the Leydig cells, Sex reversal, Abnormal vagina morphology,... ORPHA:168558
Frontometaphyseal Dysplasia 2
Pyloric stenosis, Feeding difficulties in infancy, High palate, Cleft palate, Bifid uvula, Gastro... OMIM:617137
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Aplasia of the uterus, Abnormality of the Leydig cells, Sex reversal, Abnormal vagina morphology,... ORPHA:289548
Cardiac-Urogenital Syndrome
Patent urachus, Aplasia of the uterus, Bifid scrotum, Accessory spleen, Micropenis, Ambiguous gen... OMIM:618280
Thrombocytopenia-Absent Radius Syndrome
Thrombocytopenia, Aplasia of the uterus ORPHA:3320
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Aplasia of the uterus, Hypoparathyroidism, Uterus didelphys, Parathyroid hypoplasia, Vaginal atre... ORPHA:2237
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
B lymphocytopenia, Pancreatic hypoplasia, Cholelithiasis, Biliary hyperplasia, Micropenis, Severe... ORPHA:83617
Tracheobronchopathia Osteochondroplastica
Esophagitis, Recurrent pneumonia, Pneumonia ORPHA:3348
Testicular Agenesis
Vanishing testis, Urethrovaginal fistula, Abnormal vas deferens morphology, Absent testis, Urogen... ORPHA:325124
46,Xy Sex Reversal 7
Gonadal dysgenesis, male, Sex reversal, Streak ovary, Gonadoblastoma, Hypoplasia of the fallopian... OMIM:233420
46,Xx Sex Reversal 2
True hermaphroditism, Sex reversal, Bifid scrotum, Azoospermia, Hypoplasia of the vagina, Micrope... OMIM:278850
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Aplasia of the uterus, Hypoparathyroidism, Uterus didelphys, Septate vagina, Aplasia of the vagina OMIM:146255
Townes-Brocks Syndrome 2
Hypospadias, Rectovaginal fistula, Bifid uterus, Spina bifida occulta OMIM:617466
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Abnormal cortical gyration, Vomiting, Feeding difficulties, Esophagitis, Gastroesophageal reflux ORPHA:79351
Esophageal Atresia
Pyloric stenosis, Feeding difficulties in infancy, Cleft palate, Dysphagia, Duodenal atresia, Mor... ORPHA:1199
Zollinger-Ellison Syndrome
Duodenal ulcer, Peptic ulcer, Nausea, Esophagitis, Episodic abdominal pain, Intestinal obstructio... ORPHA:913
Chromosome 17Q12 Deletion Syndrome
Aplasia of the uterus, Urethral stenosis, Aplasia of the vagina, Unicornuate uterus, Recurrent ur... OMIM:614527
Turner Syndrome Due To Structural X Chromosome Anomalies
High, narrow palate, Inflammation of the large intestine, High palate, Celiac disease, Recurrent ... ORPHA:99413
Turner Syndrome
High, narrow palate, Inflammation of the large intestine, High palate, Celiac disease, Recurrent ... ORPHA:881
Mosaic Monosomy X
High, narrow palate, Inflammation of the large intestine, High palate, Celiac disease, Recurrent ... ORPHA:99228
Monosomy X
High, narrow palate, Inflammation of the large intestine, High palate, Celiac disease, Recurrent ... ORPHA:99226
Oeis Complex
Bifid uterus, Myelomeningocele, Vesicovaginal fistula, Labial hypoplasia, Rectovaginal fistula, A... OMIM:258040
Mowat-Wilson Syndrome
Pyloric stenosis, Dysphagia, Cleft palate, Aganglionic megacolon, Vomiting, Periventricular heter... ORPHA:2152
Hydrolethalus Syndrome 1
Hypospadias, Abnormal cortical gyration, Abnormal vagina morphology, Bifid uterus, Accessory sple... OMIM:236680
Chronic Thromboembolic Pulmonary Hypertension
Inflammation of the large intestine, Osteomyelitis ORPHA:70591
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Feeding difficulties, Hepatosplenomegaly, Esophagitis, Hepatic failure ORPHA:541423
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Aplasia of the uterus, Precocious puberty in females, Fused labia majora, Testicular adrenal rest... ORPHA:90794
Mayer-Rokitansky-K├╝ster-Hauser Syndrome
Aplasia of the uterus, Hypoplasia of the vagina ORPHA:3109
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Urethral atresia, Absent external genitalia, Aplasia of the uterus, Aplasia of the vagina OMIM:271520
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Phocomelia, Schinzel Type
Meningocele, Aplasia of the uterus, Hypoplasia of penis, Cryptorchidism ORPHA:2879
Multiple Endocrine Neoplasia, Type I
Zollinger-Ellison syndrome, Diarrhea, Esophagitis, Peptic ulcer OMIM:131100
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome
Aplasia of the uterus, Urethral atresia, Absent external genitalia, Cryptorchidism, Persistent cl... ORPHA:94095
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, Bifid uterus, Supernumerary nipple ORPHA:1521
Pontocerebellar Hypoplasia Type 7
Aplasia of the uterus, Absent penis, Microphallus, Clitoral hypertrophy, Abnormal scrotal rugatio... ORPHA:284339
Limb-Mammary Syndrome
Aplasia of the uterus, Hypoplastic nipples, Aplasia of the ovary, Bilateral breast hypoplasia, Br... ORPHA:69085
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Aplasia of the vagina ORPHA:457284
Neu-Laxova Syndrome 1
Short umbilical cord, Bifid uterus, Small placenta, Spina bifida, Cryptorchidism, Lissencephaly OMIM:256520
Rubinstein-Taybi Syndrome 1
Hypospadias, Bifid uterus, Leukemia, Spina bifida occulta, Papillary cystadenoma of the epididymi... OMIM:180849
Okamoto Syndrome
Bifid uterus, Splenomegaly ORPHA:2729
Coffin-Siris Syndrome 1
Hypospadias, Aplasia of the uterus, Clitoral hypertrophy, Cryptorchidism, Recurrent respiratory i... OMIM:135900
Wolf-Hirschhorn Syndrome
Hypospadias, Aplasia of the uterus, Accessory spleen, Cryptorchidism, Precocious puberty OMIM:194190
Ehlers-Danlos Syndrome, Vascular Type
Uterine rupture, Cervical insufficiency, Anemia, Uterine prolapse, Cystocele, Cryptorchidism OMIM:130050
Exstrophy-Epispadias Complex
Bifid scrotum, Bifid uterus, Absent penis, Bifid penis, Spina bifida, Penoscrotal transposition, ... ORPHA:322
Townes-Brocks Syndrome 1
Hypospadias, Urethral valve, Bifid scrotum, Bifid uterus, Rectovaginal fistula, Rectoperineal fis... OMIM:107480
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Hypospadias, Occipital meningocele, Aplasia of the uterus, Hypoplastic nipples, Cryptorchidism, A... OMIM:276820
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Vascular Ehlers-Danlos Syndrome
Hypospadias, Uterine rupture, Uterine prolapse, Cystocele, Cryptorchidism, Umbilical hernia ORPHA:286
Norrie Disease
Uterine rupture, Cryptorchidism ORPHA:649
Pallister-Killian Syndrome
Hypospadias, Hypoplastic labia majora, Aplasia of the uterus, Small scrotum, Aplasia of the upper... 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 Itgb7

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 Itgb7.

No publications found that use IMPC mice or data for Itgb7.

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MGI Allele Allele Type Produced
Itgb7tm1(NCOM)Cmhd Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Itgb7tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Itgb7tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Itgb7tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Itgb7tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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