Gene: Itpkb MGI:109235

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

inositol 1,4,5-trisphosphate 3-kinase B

Synonyms:

E130307H12Rik, 1110033J02Rik

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Itpkb mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Itpkb (0 diseases)
Human diseases predicted to be associated with Itpkb (1192 diseases)

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

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

Disease	Matching phenotypes	Source
Monocyte Chemotactic Disorder	Cutaneous anergy	OMIM:252250
Immunodeficiency 24	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:615897
Immunodeficiency 48	Pneumocystis carinii pneumonia, Panhypogammaglobulinemia, Recurrent candida infections, Abnormal ...	OMIM:269840
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Recurrent viral infections, Increased circulating IgE level, Lymphopenia, Hepatosplenomegaly, Dec...	ORPHA:169154
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes	Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can...	OMIM:242870
Immunodeficiency 112	Decreased circulating IgG level, Reduced natural killer cell count, Recurrent viral infections, C...	OMIM:620449
Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Abnormal T cell count, Pneumocystis carinii pneumonia, Decreased...	OMIM:312863
Immunodeficiency 18	Reduced natural killer cell count, Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Abno...	OMIM:615615
Agammaglobulinemia 3, Autosomal Recessive	Diarrhea, Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Absent circulating B ...	OMIM:613501
Immunodeficiency 8 With Lymphoproliferation	Recurrent upper respiratory tract infections, Gastroesophageal reflux, Recurrent otitis media, Ly...	OMIM:615401
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R...	OMIM:614493
Caspase 8 Deficiency	Decreased circulating IgG level, Decreased circulating IgA level, Decreased CD4:CD8 ratio, Spleno...	OMIM:607271
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Inflammation of the large intestine, Increased circulating IgE level, Hypopituitarism, Recurrent ...	ORPHA:98813
Immunodeficiency 97 With Autoinflammation	Diarrhea, Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosple...	OMIM:619802
Severe Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level, Chronic di...	OMIM:300400
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Increased circulating IgE level, Decreased proportion of CD8-positive T cells, Reduced delayed hy...	OMIM:617241
Reticular Dysgenesis	Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital agranulocy...	OMIM:267500
Immunodeficiency 52	Persistent CMV viremia, Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphop...	OMIM:617514
Secretory Component Deficiency	Chronic intestinal candidiasis, Intermittent diarrhea, Secretory IgA deficiency	OMIM:269650
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion	OMIM:183350
Immunodeficiency, Common Variable, 11	Decreased circulating IgG level, Abnormal T cell count, Inflammation of the large intestine, Muco...	OMIM:615767
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T...	OMIM:615513
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Diarrhea, Recurrent otitis media, Decreased...	OMIM:612692
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Diarrhea, Impaired T...	OMIM:240500
Immunodeficiency 15A	Decreased proportion of memory B cells, Chronic mucocutaneous candidiasis, Cutaneous abscess, Dec...	OMIM:618204
Immunodeficiency 115 With Autoinflammation	Decreased circulating IgG level, Recurrent viral infections, Intestinal lymphangiectasia, Postnat...	OMIM:620632
Immunodeficiency, Common Variable, 1	Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Diarrhea, Impaired T...	OMIM:607594
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced natural killer c...	OMIM:619510
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Abnormality of humoral immunity, Recurrent upper respiratory tract infections, Recurrent pneumoni...	ORPHA:277
Immunodeficiency, Common Variable, 3	Abnormal T cell count, Chronic decreased circulating total IgG, Recurrent otitis media, Decreased...	OMIM:613493
Immunodeficiency, Common Variable, 4	Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Recurrent sinusitis,...	OMIM:613494
Immunodeficiency 17	Abnormal B cell morphology, Anoperineal fistula, Chronic decreased circulating IgG2, Decreased pr...	OMIM:615607
Immunoglobulin A Deficiency 2	Abnormal lymphocyte morphology, Decreased circulating IgA level, Recurrent infection of the gastr...	OMIM:609529
Immunodeficiency 15B	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Chr...	OMIM:615592
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent viral infections, Lymphadenitis, Abnormal lymph node morphology, Decreased proportion o...	ORPHA:911
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Recurrent infections, Decreased circulating IgG level, Decreased lymphocyte proliferation in resp...	ORPHA:169160
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Abnormal B cell morphology, Recurrent infections, Decreased circulating antib...	OMIM:616911
Selective Igm Deficiency	Lymphadenitis, Decreased proportion of CD8-positive T cells, Stomach cancer, Recurrent bronchitis...	ORPHA:331235
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgG level, Protein-losing enteropathy, Recurrent pneumonia, Recurrent otiti...	OMIM:613502
Immunodeficiency, Common Variable, 7	Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Recurrent respir...	OMIM:614699
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Persistent CMV viremia, Recurrent viral infections, Decreased specific anti-polysaccharide antibo...	OMIM:300853
Immunodeficiency 62	Decreased circulating IgG level, Decreased proportion of memory B cells, Recurrent upper respirat...	OMIM:618459
Immunodeficiency 57 With Autoinflammation	Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci...	OMIM:618108
Agammaglobulinemia 2, Autosomal Recessive	Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Recurrent bacterial...	OMIM:613500
Immunodeficiency, Common Variable, 5	Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count, Recurrent ...	OMIM:613495
Cernunnos-Xlf Deficiency	Recurrent viral infections, Lymphopenia, T lymphocytopenia, Recurrent bacterial infections, Throm...	ORPHA:169079
Immunodeficiency By Defective Expression Of Mhc Class Ii	Abnormality of humoral immunity, Abnormal CD4:CD8 ratio, Recurrent viral infections, Diarrhea, Pr...	ORPHA:572
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Recurrent infections, Decreased circulating IgG level, Pneumocystis jirovecii pneumonia, Recurren...	OMIM:614069
Immunodeficiency 104	Gastroesophageal reflux, Diarrhea, Chronic mucocutaneous candidiasis, Failure to thrive secondary...	OMIM:608971
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pneumonia, Decrea...	OMIM:619281
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, Recurrent respiratory infections, T lymphocytopenia, B lymphocyt...	OMIM:233650
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Diarrhea, Lymphopenia, Lymph node hypoplasia, Decreased proportion of CD4-positive helper T cells...	ORPHA:276
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	Ridged nail, T lymphocytopenia, Nail pits, Congenital alopecia totalis	ORPHA:169095
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Recurrent infections, Herpes simplex encephalitis, Increased circulating IgE level, Recurrent oti...	OMIM:618982
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619824
Immunodeficiency 105	Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina...	OMIM:619924
Immunodeficiency 25	Recurrent pneumonia, Recurrent candida infections, Increased circulating IgE level, Protracted di...	OMIM:610163
B-Cell Expansion With Nfkb And T-Cell Anergy	Recurrent infections, Decreased specific antibody response to polysaccharide vaccine, Decreased c...	OMIM:616452
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Diarrhea, Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia, Recurren...	OMIM:601457
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Persistent CMV viremia, Diarrhea, Recurrent urinary tract infections, Recurrent otitis media, Dec...	OMIM:618495
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat...	OMIM:611926
Histiocytosis, Familial Lipochrome	Recurrent infections, Histiocytosis, Increased circulating antibody level	OMIM:235900
Immunodeficiency 103, Susceptibility To Fungal Infections	Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Phaeohyphomycosis, Abn...	OMIM:212050
Immunodeficiency 50	Recurrent urinary tract infections, Lymphopenia, Neutropenia, Recurrent respiratory infections, D...	OMIM:300988
Immunodeficiency 95	Decreased circulating IgG3 level, Recurrent viral pneumonia, Lymphopenia, Recurrent viral upper r...	OMIM:619773
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi...	OMIM:615206
Persistent Polyclonal B-Cell Lymphocytosis	Decreased circulating total IgM, Recurrent infections, Lymphocytosis, Splenomegaly	OMIM:606445
Immunodeficiency 36 With Lymphoproliferation	Persistent CMV viremia, Decreased circulating IgG level, Recurrent upper respiratory tract infect...	OMIM:616005
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen...	OMIM:605258
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 70	Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, Recurrent s...	OMIM:618969
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina...	OMIM:606843
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Recurren...	OMIM:619707
Immunodeficiency 44	Post-vaccination measles, Severe viral infection, Lymphopenia, Decreased circulating IgA level, A...	OMIM:616636
Immunodeficiency 102	Decreased proportion of CD4-positive helper T cells, Recurrent lower respiratory tract infections...	OMIM:301082
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Recurrent viral infections, Decreased lymphocyte proliferation in response to anti-CD3, Increased...	OMIM:606367
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Thr...	OMIM:615285
Immunodeficiency 19	Abnormal B cell morphology, Severe viral infection, Abnormal natural killer cell morphology, Recu...	OMIM:615617
Immunodeficiency 46	Sepsis, Chronic diarrhea, Recurrent sinopulmonary infections, Neutropenia, Chronic oral candidias...	OMIM:616740
Immunoglobulin Kappa Light Chain Deficiency	Diarrhea, Recurrent respiratory infections, Absent circulating immunoglobulin kappa chain, Recurr...	OMIM:614102
Immunodeficiency 76	Recurrent pneumonia, Lymphopenia, Splenomegaly, Recurrent bronchiolitis, Chronic diarrhea, Lympha...	OMIM:619164
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Decreased circulating IgG level, Recurrent upper respiratory tract infections...	OMIM:616100
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Short stature, Neutropenia, Recurrent bronchopulmonary infections	OMIM:610798
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level...	OMIM:618534
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Abnormality of T cell physiology	OMIM:308220
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Recurrent viral infections, Lymphadenitis, Recurrent enteroviral infections, Protracted diarrhea,...	ORPHA:331206
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Cutaneous anergy, Recurrent upper respiratory tract infections, Absent natural killer cells, Decr...	OMIM:600802
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Persistent CMV viremia, Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic an...	OMIM:619220
T-Cell Immunodeficiency With Thymic Aplasia	Diarrhea, Aplasia of the thymus, Meningitis, Decreased lymphocyte proliferation in response to mi...	ORPHA:83471
Mhc Class Ii Deficiency 1	Cutaneous anergy, Recurrent upper respiratory tract infections, Recurrent viral infections, Chron...	OMIM:209920
Reticular Dysgenesis	Sepsis, Diarrhea, Recurrent respiratory infections, Leukopenia, Malabsorption, Anemia, Abnormalit...	ORPHA:33355
Immunoglobulin A Deficiency 1	Recurrent respiratory infections, Decreased circulating IgA level, Recurrent infection of the gas...	OMIM:137100
Wiskott-Aldrich Syndrome	Inflammation of the large intestine, Diarrhea, Increased circulating IgE level, Abnormal delayed ...	OMIM:301000
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Cutaneous abscess,...	OMIM:618944
Immunodeficiency 116	Recurrent bacterial infections, Recurrent respiratory infections, Recurrent viral infections, Abs...	OMIM:608957
Immunodeficiency 11B With Atopic Dermatitis	Increased circulating IgE level, Disseminated molluscum contagiosum, Colonic eosinophilia, Eosino...	OMIM:617638
Agammaglobulinemia 8A, Autosomal Dominant	Recurrent otitis media, Agammaglobulinemia, B lymphocytopenia, Post-vaccination polio, Recurrent ...	OMIM:616941
Immunodeficiency, Common Variable, 14	Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve...	OMIM:617765
Immunodeficiency 40	Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Interm...	OMIM:616433
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent viral infections, Recurrent candida infections, Increased circulating IgE level, Recurr...	ORPHA:217390
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Absent...	OMIM:619846
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Lymphadenitis, Decreased lymphocyte proliferation in response to anti-CD3, Recurrent otitis media...	OMIM:618986
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur...	ORPHA:35078
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Recurrent viral infect...	OMIM:242700
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Inflammation of the large intestine, Diarrhea, Recurrent lower respiratory tract infections, Auto...	ORPHA:436159
Immunodeficiency 37	Decreased proportion of central memory CD4-positive, alpha-beta T cells, Infectious encephalitis,...	OMIM:616098
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ...	OMIM:620430
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci...	OMIM:618261
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Recurrent urinary tract infections, Lymphopenia, Leukopenia, Pos...	OMIM:620210
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Sepsis, Diarrhea, Vomiting, Lymphopenia, Leukopenia, Increased circu...	ORPHA:319218
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Decreased circulating Ig...	OMIM:618394
Agammaglobulinemia 7, Autosomal Recessive	Recurrent infections, Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulin...	OMIM:615214
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Lactose Intolerance, Adult Type	Diarrhea, Lactose intolerance, Abdominal pain, Decreased small intestinal mucosa lactase level, F...	OMIM:223100
Hypotrichosis 1	Sparse pubic hair, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axillary hair, Spar...	OMIM:605389
Trehalase Deficiency	Vomiting, Diarrhea, Malabsorption, Abdominal distention, Abdominal pain	ORPHA:103909
Transcobalamin Deficiency	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Pancytopenia, Neut...	ORPHA:859
Celiac Disease, Susceptibility To, 1	Ataxia, Alopecia, Diarrhea, Abdominal distention, Vomiting, Postnatal growth retardation, Decreas...	OMIM:212750
Inflammatory Pseudotumor Of The Liver	Vomiting, Increased hepatitis B virus antibody level, Nausea, Neoplasm of the liver, Abdominal di...	ORPHA:90003
Immunodeficiency With Hyper-Igm, Type 1	Diarrhea, Enteroviral encephalitis, Increased circulating IgA level, Neutropenia, Meningitis, Rec...	OMIM:308230
Immunodeficiency 22	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Diarrhea, Protract...	OMIM:615758
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased circulating IgG level, Recurrent mycobacterial infections, Recurrent viral infections, ...	ORPHA:275
Immunodeficiency 96	Decreased circulating IgG level, Increased mean corpuscular volume, Increased proportion of gamma...	OMIM:619774
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Alopecia, Ridged nail, Nail dystrophy, Decreased helper T cell proportion, T lymphocytopenia, Nai...	OMIM:601705
Immunodeficiency 9	Decreased circulating IgG level, BCGitis, Difficulty walking, Lymphopenia, Decreased circulating ...	OMIM:612782
Wolman Disease	Hepatic failure, Malnutrition, Adrenal insufficiency, Nausea and vomiting, Splenomegaly, Abdomina...	ORPHA:75233
Alpha-Heavy Chain Disease	Alopecia, Abnormal small intestine morphology, Malabsorption, Splenomegaly, Dysgammaglobulinemia,...	ORPHA:100025
Immunodeficiency 92	Persistent CMV viremia, Decreased circulating IgG level, Partial absence of specific antibody res...	OMIM:619652
Immunodeficiency 27A	Diarrhea, Enlarged mesenteric lymph node, Anorexia, Hepatosplenomegaly, Leukocytosis, Splenomegal...	OMIM:209950
Chronic Diarrhea Due To Glucoamylase Deficiency	Vomiting, Abnormal small intestinal mucosa morphology, Malabsorption, Nausea, Abdominal distentio...	ORPHA:103907
Autoinflammation With Infantile Enterocolitis	Reduced natural killer cell count, Secretory diarrhea, Pancytopenia, Villous atrophy, Splenomegal...	OMIM:616050
Diarrhea 8, Secretory Sodium, Congenital	Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium, Abdominal distention	OMIM:616868
Folate Malabsorption, Hereditary	Ataxia, Diarrhea, Leukopenia, Folate-responsive megaloblastic anemia, Malabsorption, Feeding diff...	OMIM:229050
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Recurrent upper respiratory tract infection...	OMIM:602450
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Abnormal T cell count, Diarrhea, Recurrent enteroviral infections, Panhypogammaglobulinemia, Decr...	OMIM:307200
Immunodeficiency, Common Variable, 8, With Autoimmunity	Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Autoimmune thrombocyto...	OMIM:614700
Candidiasis, Familial, 1	Cutaneous anergy	OMIM:114580
Immunodeficiency, Common Variable, 10	Decreased circulating IgG level, Recurrent pneumonia, Frequent Giardia lamblia infestation, Decre...	OMIM:615577
Agammaglobulinemia, X-Linked	Enteroviral dermatomyositis syndrome, Recurrent otitis media, Lymph node hypoplasia, Prostatitis,...	OMIM:300755
Immunodeficiency 61	Recurrent otitis media, Decreased circulating IgG2 level, Recurrent sinusitis, Recurrent bacteria...	OMIM:300310
Trichothiodystrophy 5, Nonphotosensitive	Broad-based gait, Chronic decreased circulating IgG1, Sparse eyebrow, Reduced hair sulfur content...	OMIM:300953
Immunodeficiency 114, Folate-Responsive	Decreased circulating IgG level, Increased circulating IgE level, Lymphopenia, Postnatal growth r...	OMIM:620603
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Diarrhea, Vomiting, Intestinal lymphangiectasia, Malabsorption, Intestinal obstruction, Abnormal ...	OMIM:226300
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Ileal atresia, Colonic atresia, Lymphopenia, Intestinal obstruction, Rectal atresia, Duodenal atr...	OMIM:243150
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis, Ulcerative colitis, Bloody diarrhea	OMIM:619398
Intestinal Dysmotility Syndrome	Diarrhea, Decreased intestinal transit time, Projectile vomiting, Abdominal distention, High pala...	OMIM:620045
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Immunodeficiency 10	Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Recurrent urinary tract infections,...	OMIM:612783
Hereditary Folate Malabsorption	Gastroesophageal reflux, Diarrhea, Recurrent respiratory infections, Recurrent urinary tract infe...	ORPHA:90045
Immunodeficiency With Hyper-Igm, Type 5	Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb...	OMIM:608106
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Recurrent enteroviral infections, Rectal abscess, Panhypogammaglobulinemia, ...	OMIM:601495
Congenital Sucrase-Isomaltase Deficiency	Diarrhea, Vomiting, Gastroesophageal reflux, Abdominal colic, Nausea, Constipation, Abdominal dis...	ORPHA:35122
Athyreosis	Hypothyroidism, Constipation, Abdominal distention, Short stature, Macroglossia, Growth delay, Fe...	ORPHA:95713
Small Bowel Atresia	Vomiting, Intestinal malrotation, Intrauterine growth retardation, Jejunal atresia, Intestinal hy...	ORPHA:1201
Immunodeficiency 109 With Lymphoproliferation	Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho...	OMIM:620282
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Recurrent viral infections, Increased circulating IgE level, Recurrent otitis media, Molluscum co...	OMIM:243700
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Recurrent viral infections, Increased circulating IgE level, Lymphopenia,...	ORPHA:443811
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Neutropenia, Recurrent ph...	OMIM:308240
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating IgG level, Broad-based gait, Crohn's disease, Agammaglobulinemia, Absent ci...	OMIM:619705
Immunodeficiency, Common Variable, 13	Recurrent viral infections, Pancytopenia, Acute lymphoblastic leukemia, Recurrent fungal infectio...	OMIM:616873
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Recurrent viral infections, Diarrhea, Increased circulating IgE level, Lymphopenia, Aplasia of th...	OMIM:102700
Autoimmune Lymphoproliferative Syndrome	Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Autoimmune hemolytic ane...	OMIM:601859
Secondary Short Bowel Syndrome	Sepsis, Central hypothyroidism, Volvulus, Diarrhea, Vomiting, Malnutrition, Villous atrophy, Abno...	ORPHA:95427
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Recurrent viral infections, Recurrent enteroviral infecti...	ORPHA:79124
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Reduced natural killer cell count, Diarrhea, Decreased circulating IgA level, Malabsorption, Prot...	OMIM:242860
Immunodeficiency 31C	Diarrhea, Decreased lymphocyte proliferation in response to anti-CD3, Lymphopenia, Gastrointestin...	OMIM:614162
Wolman Disease	Acute hepatic failure, Vomiting, Splenomegaly, Abdominal distention	OMIM:620151
Dyskeratosis Congenita, Autosomal Recessive 5	Bone marrow hypocellularity, Postnatal growth retardation, Leukopenia, Intrauterine growth retard...	OMIM:615190
Ras-Associated Autoimmune Leukoproliferative Disorder	Recurrent infections, Recurrent respiratory infections, Pancytopenia, Splenomegaly, Follicular hy...	OMIM:614470
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Decreased specific pneumococcal antibody level, Colitis, Impaired lymphocyte transformation with ...	OMIM:617006
Activated Pi3K-Delta Syndrome	Recurrent tonsillitis, Recurrent otitis media, Decreased circulating antibody level, Splenomegaly...	ORPHA:397596
Ataxia-Pancytopenia Syndrome	Ataxia, Acute myelomonocytic leukemia, Recurrent respiratory infections, Pancytopenia, Splenomega...	ORPHA:2585
Primary Intestinal Lymphangiectasia	Decreased circulating IgG level, Increased stool alpha1-antitrypsin concentration, Opportunistic ...	ORPHA:90362
Schimke Immuno-Osseous Dysplasia	Bone marrow hypocellularity, Growth delay, Abnormal proportion of naive CD4 T cells, Impaired T c...	ORPHA:1830
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Ataxia, Intestinal pseudo-obstruction, Malnutrition, Malabsorption, Gastrointestinal dysmotility,...	OMIM:613662
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Intestinal lymphangiectasia, Abnormal hair morphology, Lymphopen...	OMIM:152800
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
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Recurrent pneumonia, Abnormal CD4:CD8 ratio, Diarrhea, Recurrent aphthous stomatitis, Splenomegal...	OMIM:150550
Immunodeficiency 81	Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre...	OMIM:619374
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibody level	OMIM:247800
Microcephalic Primordial Dwarfism, Toriello Type	Severe short stature, Decreased circulating IgG level, Intrauterine growth retardation, Neutropen...	ORPHA:2643
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia, Increased circulating IgE level, Decreased FOXP3-expressing T cell count, Villous atrop...	OMIM:304790
Congenital Pancreatic Cyst	Vomiting, Abdominal distention, Pancreatitis, Anorexia, Abdominal pain	ORPHA:313906
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Diarrhea, Decreased lymphocyte proliferation in response to an...	OMIM:619313
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Bronchiolitis, Decreased circulating IgA level, Enterocolitis, Decreased proportion of class-swit...	OMIM:614878
Hypotrichosis Simplex	Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse hair, Sparse scalp hair	ORPHA:55654
Hypotrichosis 10	Sparse eyebrow, Sparse body hair, Sparse eyelashes, Abnormality of the nail, Sparse scalp hair	OMIM:614238
Ataxia-Telangiectasia	Abnormal hair morphology, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnor...	OMIM:208900
Anterior Cutaneous Nerve Entrapment Syndrome	Recurrent urinary tract infections, Anorexia, Recurrent infection of the gastrointestinal tract, ...	ORPHA:51890
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Exocrine pancreatic insufficiency, Abnormal immunoglobulin level, Feeding difficulties in infancy...	OMIM:618752
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Recurrent pneumonia, Alopecia, Autoimmune hemolytic anemia, Recurrent sinusit...	OMIM:616576
Autoimmune Lymphoproliferative Syndrome, Type Iia	Gastrointestinal hemorrhage, Follicular hyperplasia, Reduced delayed hypersensitivity, Chronic no...	OMIM:603909
Cronkhite-Canada Syndrome	Gastrointestinal carcinoma, Alopecia, Diarrhea, Dystrophic toenail, Sparse body hair, Abnormal fi...	ORPHA:2930
Schimke Immunoosseous Dysplasia	Coarse hair, Fine hair, Bilateral cryptorchidism, Lymphopenia, Pancytopenia, Abnormal T cell morp...	OMIM:242900
Alopecia Antibody Deficiency	Sparse hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Short stature, Abnormal eyelash...	ORPHA:1006
Combined Immunodeficiency-Enteropathy Spectrum	Peritoneal abscess, Abdominal distention, Jejunoileal ulceration, Intestinal malrotation, Intraut...	ORPHA:436252
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Increased circulating IgE level, Recurrent otitis media, Eosinophilia, Macroglossia, Recurrent re...	OMIM:618523
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Congenital shortened small intestine, Vomiting, Intestinal pseudo-obstruction, Intestinal malrota...	OMIM:300048
Diarrhea 12, With Microvillus Atrophy	Dependency on parenteral nutrition, Vomiting, Secretory diarrhea, Villous atrophy, Microvillar PA...	OMIM:619445
Boutonneuse Fever	Diarrhea, Cervical lymphadenopathy, Leukopenia, Nausea, Abdominal pain, Lymphadenopathy, Thromboc...	ORPHA:83313
Immunodeficiency 7	Diarrhea, Recurrent otitis media, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, P...	OMIM:615387
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Recurrent viral infections, Decreased circulating total IgG, Diarrhea, Decreased lymphocyte proli...	ORPHA:221139
Immunodeficiency 69	Diarrhea, Hemophagocytosis, BCGitis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly...	OMIM:618963
Congenital Disorder Of Glycosylation, Type Ih	Protein-losing enteropathy, Diarrhea, Vomiting, Decreased liver function, Decreased circulating T...	OMIM:608104
Hypotrichosis 11	Alopecia universalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Absent axill...	OMIM:615059
Trehalase Deficiency	Abdominal pain, Diarrhea	OMIM:612119
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Recurrent infections, Recurrent pneumonia, Alopecia, Cutaneous abscess, Chronic mucocutaneous can...	OMIM:618282
Immunodeficiency 86	Decreased circulating IgG level, Impaired oxidative burst, BCGitis, Increased circulating IgM level	OMIM:619549
Volvulus Of Midgut	Volvulus, Intestinal malrotation, Neonatal intestinal obstruction, Constipation, Abdominal disten...	OMIM:193250
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Recurrent viral infections, Abnormal circulating IgM leve...	OMIM:618048
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased circulating IgA level, Intrauterine growth retardation, Short stature, Recurrent lower ...	OMIM:617744
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating IgG level, Decreased circulating IgA level, Hirsutism, Ataxia, Decreased ci...	OMIM:300861
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating IgG level, Reduced natural killer cell count, Recurrent upper respiratory t...	OMIM:619752
Leukomelanoderma, Infantilism, Impaired Intellectual Development, Hypodontia, Hypotrichosis	Sparse hair, Growth delay	OMIM:246500
Immune Deficiency, Familial Variable	Recurrent infections, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Transcobalamin Ii Deficiency	Decreased circulating IgG level, Diarrhea, Vomiting, Decreased circulating IgA level, Pancytopeni...	OMIM:275350
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Diarrhea, Impaired T cell function, Recurrent candida infections, Decreased testicular size, Alop...	OMIM:201100
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Diarrhea, Leukocytosis, Chronic diarrhea, Increased proportion of CD4-positive T cells, Increased...	OMIM:617099
Rabies	Anorexia, Diarrhea, Nausea and vomiting, Recurrent pharyngitis	ORPHA:770
Bone Marrow Failure Syndrome 4	Bone marrow hypocellularity, Rhizomelia, Leukopenia, Thrombocytopenia, Anemia, Recurrent respirat...	OMIM:618116
Autosomal Agammaglobulinemia	Recurrent infections, Sepsis, Diarrhea, Recurrent respiratory infections, Malabsorption, Agammagl...	ORPHA:33110
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Decreased circulating antibody level, Malabsorption, Abnormal hair quantity	ORPHA:1116
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased proportion of memory B cells, Decreased specific anti-polysaccharide antibody level, De...	ORPHA:70593
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Sparse eyebrow, Sparse body hair, Abnormal fingernail morphology, Hypoplastic toenails,...	ORPHA:2722
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Recurrent upper respiratory tract infections, Hemophagocytosis, Hepatosplenomegaly, Abnormal natu...	OMIM:613101
Adult Idiopathic Neutropenia	Lymphopenia, Recurrent aphthous stomatitis, Recurrent bacterial infections, Helicobacter pylori i...	ORPHA:2688
Pediatric Systemic Lupus Erythematosus	Alopecia, Diarrhea, Vomiting, Microangiopathic hemolytic anemia, Lymphopenia, Leukopenia, Decreas...	ORPHA:93552
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib...	OMIM:202700
Lead Poisoning	Abnormality of humoral immunity, Vomiting, Abdominal distention, Imbalanced hemoglobin synthesis,...	ORPHA:330015
Niemann-Pick Disease, Type A	Vomiting, Athetosis, Sea-blue histiocytosis, Microcytic anemia, Inability to walk, Splenomegaly, ...	OMIM:257200
Mitochondrial Neurogastrointestinal Encephalomyopathy	Gastroesophageal reflux, Diarrhea, Vomiting, Nausea, Gastrointestinal dysmotility, Abnormality of...	ORPHA:298
Porphyria Due To Ala Dehydratase Deficiency	Diarrhea, Increased fecal coproporphyrin 3, Difficulty walking, Nausea, Abnormal erythrocyte enzy...	ORPHA:100924
Immunodeficiency 13	Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent otitis media, Lympho...	OMIM:615518
Whim Syndrome 1	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Neutropenia, Recur...	OMIM:193670
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Abnormal B cell morphology, Recurrent otitis media, Intrauterine growth retardation, Cryptorchidi...	OMIM:616910
Ménétrier Disease	Gastrointestinal hemorrhage, Gastroesophageal reflux, Diarrhea, Vomiting, Malnutrition, Stomach c...	ORPHA:2494
Necrotizing Enterocolitis	Diarrhea, Abdominal distention, Vomiting, Hypoactive bowel sounds, Leukocytosis, Lethargy, Perito...	ORPHA:391673
Adiposis Dolorosa	Constipation, Abdominal distention	OMIM:103200
Congenital Short Bowel Syndrome	Congenital shortened small intestine, Decreased intestinal transit time, Vomiting, Intestinal mal...	OMIM:615237
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Recurrent pneumonia, Vomiting, Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia,...	OMIM:617780
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Gastroesophageal reflux, Feeding difficulties in infancy, Abdominal ...	ORPHA:2924
Xq28 (MECP2) duplication	Gastroesophageal reflux, Inability to walk, Decreased circulating IgA level, Gait ataxia, Feeding...	DECIPHER:45
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Gastroesophageal reflux, Recurrent viral infections, Increased circulating IgE level, Eosinophili...	OMIM:620532
Immunodeficiency 59 And Hypoglycemia	Recurrent upper respiratory tract infections, Sepsis, High anterior hairline, Herpes simplex ence...	OMIM:233600
Trichothiodystrophy 3, Photosensitive	Meckel diverticulum, Bilateral cryptorchidism, Trichorrhexis nodosa, Lymphopenia, Intrauterine gr...	OMIM:616395
Lymphoproliferative Syndrome, X-Linked, 2	Inflammation of the large intestine, Aplastic anemia, Hemophagocytosis, Recurrent respiratory inf...	OMIM:300635
Dyskeratosis Congenita, Digenic	Decreased circulating IgG level, Alopecia, Gastroesophageal reflux, Oral leukoplakia, Decreased t...	OMIM:620040
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level, Recurrent respiratory infections	OMIM:137050
Immunodeficiency, Common Variable, 6	Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat...	OMIM:613496
Hypotrichosis 4	Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair	OMIM:146550
Congenital Disorder Of Glycosylation, Type Iir	Recurrent infections, Decreased circulating antibody level, Decreased proportion of CD4-positive ...	OMIM:301045
Cartilage-Hair Hypoplasia	Absent pubertal growth spurt, Lymphopenia, Sparse eyelashes, Neutropenia, Sparse hair, Sparse eye...	OMIM:250250
X-Linked Agammaglobulinemia	Recurrent pneumonia, Sepsis, Alopecia, Malabsorption, Chronic diarrhea, Agammaglobulinemia, Throm...	ORPHA:47
Sepsis In Premature Infants	Diarrhea, Invasive fungal infection, Abdominal distention, Vomiting, Decreased liver function, Fu...	ORPHA:90051
Angioedema, Hereditary, 8	Abdominal pain, Diarrhea, Episodic vomiting	OMIM:619367
Isolated Agammaglobulinemia	Sepsis, Diarrhea, Recurrent respiratory infections, Abnormal lymphocyte morphology, Malabsorption...	ORPHA:229717
Hirschsprung Disease, Susceptibility To, 1	Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Constipation, Enterocoliti...	OMIM:142623
Sting-Associated Vasculopathy, Infantile-Onset	Recurrent respiratory infections, Lymphopenia, Leukopenia, Follicular hyperplasia, Nail dystrophy...	OMIM:615934
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level, Postnatal growth retardation, Delayed puberty, Short stature, Ce...	OMIM:618985
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion...	OMIM:613011
Autosomal Dominant Severe Congenital Neutropenia	Recurrent viral infections, Aplastic anemia, Diarrhea, Lymphopenia, Recurrent aphthous stomatitis...	ORPHA:486
Coproporphyria, Hereditary	Diarrhea, Vomiting, Increased fecal coproporphyrin 3, Splenomegaly, Increased fecal coproporphyri...	OMIM:121300
Hyper-Igd Syndrome	Recurrent infections, Diarrhea, Lymphadenitis, Vomiting, Molluscum contagiosum, Hepatosplenomegal...	OMIM:260920
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Hypochromic anemia, Anoperineal fistula, Increased circulating IgE level, Leukocytosis, Pancoliti...	OMIM:618213
Angiostrongyliasis	Unusual CNS infection, Vomiting, Hypereosinophilia, Increased circulating specific IgE antibody, ...	ORPHA:74
Bloom Syndrome	Neoplasm of the colon, Stomach cancer, Severe toxoplasmosis, Abscess, Sparse eyelashes, Abnormal ...	ORPHA:125
Cap Polyposis	Atrophic gastritis, Hematochezia, Diarrhea, Constipation, Abdominal distention, Abdominal pain, C...	ORPHA:160148
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis	OMIM:607624
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Recurrent upper respiratory tract infections, Exocrine pancreatic insufficiency, Hepatosplenomega...	OMIM:615952
Hidrotic Ectodermal Dysplasia	Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey...	ORPHA:189
Ataxia-Telangiectasia	Premature graying of hair, Lymphopenia, Polycystic ovaries, Gait disturbance, Delayed puberty, Ab...	ORPHA:100
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Alopecia, Decreased response to growth hormone stimulation test, Long eyelashes, Cryptorchidism, ...	ORPHA:3363
Good Syndrome	Mediastinal lymphadenopathy, Diarrhea, Recurrent urinary tract infections, Abnormal leukocyte mor...	ORPHA:169105
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re...	OMIM:615139
Inflammatory Skin And Bowel Disease, Neonatal, 2	Recurrent pneumonia, Vomiting, Secretory diarrhea, Increased circulating IgE level, Long eyelashe...	OMIM:616069
Solitary Rectal Ulcer Syndrome	Hematochezia, Stercoral ulcer, Anal fissure, Tenesmus, Bloody diarrhea, Chronic constipation, Epi...	ORPHA:209964
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati...	OMIM:619632
Lymphoproliferative Syndrome 2	Decreased lymphocyte proliferation in response to mitogen, Recurrent pneumonia, Aplastic anemia, ...	OMIM:615122
Immunodeficiency 23	Recurrent staphylococcal infections, Chronic mucocutaneous candidiasis, Recurrent respiratory inf...	OMIM:615816
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Reduced terminal:vellus ratio, Pili torti, Sparse hair, Abnormality of the nail, Sparse scalp hair	OMIM:601553
Oliver-Mcfarlane Syndrome	Severe short stature, Alopecia, Decreased response to growth hormone stimulation test, Long eyela...	OMIM:275400
Qazi-Markouizos Syndrome	High, narrow palate, Small nail, Cryptorchidism, Chronic constipation, Abdominal distention, Recu...	ORPHA:3010
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Early satiety, Diarrhea, Increased circulating IgE level, Eosinophilic infiltration of the esopha...	OMIM:147060
Immunodeficiency 33	Pneumocystis jirovecii pneumonia, Disseminated nontuberculous mycobacterial infection, Recurrent ...	OMIM:300636
Nk-Cell Enteropathy	Hematochezia, Colonic diverticula, Gastroesophageal reflux, Diarrhea, Stercoral ulcer, Abnormal g...	ORPHA:263665
Immunodeficiency 82 With Systemic Inflammation	Diarrhea, Decreased circulating total IgG, Anoperineal fistula, Recurrent otitis media, Follicula...	OMIM:619381
Omenn Syndrome	Alopecia, Recurrent viral infections, Diarrhea, Splenomegaly, Recurrent bacterial infections, Hyp...	OMIM:603554
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Diarrhea, Decreased liver function, Anorexia, Hypersplenism, Increas...	ORPHA:98850
Rothmund-Thomson Syndrome, Type 1	Recurrent otitis media, Nail dystrophy, Absent eyelashes, Hypothyroidism, Absent eyebrow, Thin na...	OMIM:618625
Griscelli Syndrome	Silver-gray hair, Bone marrow hypocellularity, White hair, Premature graying of hair, Abnormal ey...	ORPHA:381
Kondoh Syndrome	Intrauterine growth retardation, Thick eyebrow, Short stature, Sparse hair, Widow's peak	OMIM:606242
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Oral leukoplak...	OMIM:619767
Ectodermal Dysplasia 6, Hair/Nail Type	Alopecia, Sparse hair, Thin toenail, Dystrophic toenail	OMIM:614928
Immunodeficiency 67	Recurrent staphylococcal infections, Abnormal T cell count, Increased circulating IgE level, Tran...	OMIM:607676
Immunodeficiency 56	Pneumocystis jirovecii pneumonia, Recurrent pneumonia, Hepatic failure, Recurrent respiratory inf...	OMIM:615207
Immunodeficiency 98 With Autoinflammation, X-Linked	Decreased circulating IgG level, Bone marrow hypocellularity, Pneumocystis jirovecii pneumonia, H...	OMIM:301078
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Decreased circulating IgA level, Cryptorchidism, Lactose intolerance, Gait disturbance, Protubera...	ORPHA:457485
Secondary Intestinal Lymphangiectasia	Recurrent infections, Increased stool alpha1-antitrypsin concentration, Intestinal bleeding, Vomi...	ORPHA:90363
Complement Component 4B Deficiency	Decreased circulating complement C4b concentration, Recurrent pneumonia, Recurrent otitis media, ...	OMIM:614379
Cog7-Cdg	Diarrhea, Postnatal growth retardation, Hepatosplenomegaly, Recurrent infections, Feeding difficu...	ORPHA:79333
Spondylocostal Dysostosis 1, Autosomal Recessive	Severe short stature, Disproportionate short-trunk short stature, Protuberant abdomen, Abdominal ...	OMIM:277300
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Lymphadenopathy, Anemia	ORPHA:100024
Desmoplastic Small Round Cell Tumor	Ileus, Nausea and vomiting, Lymphadenopathy, Testicular neoplasm, Abdominal distention, Anemia, A...	ORPHA:83469
Hirschsprung Disease	Sepsis, Diarrhea, Functional abnormality of the gastrointestinal tract, Intestinal polyposis, Nau...	ORPHA:388
Cholesteryl Ester Storage Disease	Hepatic failure, Diarrhea, Vomiting, Acute hepatic failure, Adrenal insufficiency, Hepatosplenome...	OMIM:278000
Specific Granule Deficiency 2	Recurrent pneumonia, Sepsis, Intractable diarrhea, Recurrent otitis media, Recurrent bacterial in...	OMIM:617475
Subacute Inflammatory Demyelinating Polyneuropathy	Difficulty walking, Leukocytosis, Severe infection, Steppage gait, Gait disturbance, Increased ci...	ORPHA:206594
Cog4-Cdg	Recurrent upper respiratory tract infections, Hepatosplenomegaly, Recurrent infection of the gast...	ORPHA:263501
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Goiter, Decreased circulating T4 concentration, Congenital hypothyroidism, Feeding difficulties i...	ORPHA:226313
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Gastroesophageal reflux, Vomiting, Hilar lymph node enlargement, Recurrent otitis media, Leukocyt...	OMIM:620233
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur...	ORPHA:508533
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Increased circulating IgE level, Abnormal intestine morphology, Neutropenia, Meningitis, Autoimmu...	ORPHA:37042
Mevalonic Aciduria	Recurrent infections, Progressive cerebellar ataxia, Diarrhea, Vomiting, Fluctuating splenomegaly...	OMIM:610377
Ectodermal Dysplasia And Immunodeficiency 1	Sparse hair, Molluscum contagiosum, Abnormal circulating IgG level, Recurrent bacterial infection...	OMIM:300291
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruction, Per...	ORPHA:343
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Protein-losing enteropathy, Hematochezia, Gastrointestinal carcinoma, Xerostomia, Alopecia, Diarr...	OMIM:175500
Nephrotic Syndrome, Type 1	Gastroesophageal reflux, Hypothyroidism, Abdominal distention, Recurrent infections, Growth delay...	OMIM:256300
Atrichia With Papular Lesions	Sparse hair	OMIM:209500
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Intrauterine growth retardation, Intermittent diarrhea, Feeding difficulties, Ataxia	OMIM:620270
Trichohepatoenteric Syndrome 2	Diarrhea, Trichorrhexis nodosa, Intrauterine growth retardation, Villous atrophy, Chronic diarrhe...	OMIM:614602
Eosinophilic Gastroenteritis	Protein-losing enteropathy, Hematochezia, Diarrhea, Vomiting, Malabsorption, Leukocytosis, Eosino...	ORPHA:2070
Immunodeficiency 58	Recurrent upper respiratory tract infections, Recurrent pneumonia, Cutaneous abscess, Chronic muc...	OMIM:618131
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
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Gastrointestin...	OMIM:617341
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Diarrhea, Lymphopenia, Hepatosplenomegaly, Abnormal circulating interferon-gamma concentration, A...	ORPHA:391487
Chylomicron Retention Disease	Vomiting, Growth delay, Diarrhea, Acanthocytosis, Abdominal distention, Steatorrhea, Fat malabsor...	ORPHA:71
Progressive Multifocal Leukoencephalopathy	Decreased proportion of CD8-positive T cells, Gait ataxia, Dysmetria, Abnormal proportion of CD4-...	ORPHA:217260
Syndromic Diarrhea	Lymphopenia, Hepatoblastoma, Brittle hair, Panhypogammaglobulinemia, Villous atrophy, Hypothyroid...	ORPHA:84064
Acrocephalopolydactyly	Hepatosplenomegaly, Protuberant abdomen	ORPHA:221054
Legionnaires Disease	Ataxia, Bone marrow hypocellularity, Sepsis, Diarrhea, Anorexia, Lymphopenia, Nausea and vomiting...	ORPHA:549
Ichthyosis-Hypotrichosis Syndrome	Sparse hair	ORPHA:91132
Trichothiodystrophy 1, Photosensitive	Decreased circulating IgG level, Small nail, Fine hair, Trichorrhexis nodosa, Tiger tail banding,...	OMIM:601675
Osteopenia And Sparse Hair	Sparse hair	OMIM:259690
Liver Failure, Infantile, Transient	Decreased circulating IgG level, Vomiting, Acute hepatic failure, Feeding difficulties in infancy...	OMIM:613070
Immunodeficiency 43	Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r...	OMIM:241600
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Short stature, Decreased circulating IgA level, Abnormal T cell morphology	OMIM:215250
Immunodeficiency 68	Sepsis, Lymphadenitis, Abscess, B lymphocytopenia, Abnormal natural killer cell count, Recurrent ...	OMIM:612260
Donohue Syndrome	Hypertrichosis, Postnatal growth retardation, Intrauterine growth retardation, Ovarian cyst, Panc...	OMIM:246200
Immunodeficiency 54	Reduced natural killer cell count, Recurrent viral infections, Postnatal growth retardation, Adre...	OMIM:609981
Sneddon Syndrome	Decreased circulating total IgM, Lymphopenia	OMIM:182410
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Delayed puberty, Abdominal distention, Short stature, Growth delay, Hepatocellular carcinoma	ORPHA:369
Thiamine-Responsive Megaloblastic Anemia Syndrome	Diarrhea, Lethargy, Megaloblastic anemia, Thrombocytopenia, Anorexia, Short stature	ORPHA:49827
Icf Syndrome	Recurrent respiratory infections, Lymphopenia, Malabsorption, Protruding tongue, Anemia, Macroglo...	ORPHA:2268
Immunodeficiency 32B	BCGitis, Recurrent respiratory infections, Impaired oxidative burst, Abnormal circulating IgG lev...	OMIM:226990
Netherton Syndrome	Decreased circulating IgG level, Brittle scalp hair, Sepsis, Sparse eyebrow, Increased circulatin...	OMIM:256500
Roifman Syndrome	Recurrent pneumonia, Prominent eyelashes, Recurrent otitis media, Postnatal growth retardation, H...	ORPHA:353298
Nijmegen Breakage Syndrome	Anal stenosis, Recurrent pneumonia, Diarrhea, Recurrent urinary tract infections, Recurrent otiti...	OMIM:251260
Castleman Disease	Nausea and vomiting, Follicular hyperplasia, Intestinal obstruction, Anemia, Abnormality of the g...	ORPHA:160
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Alopecia universalis, Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair	ORPHA:1008
Dyskeratosis Congenita, Autosomal Dominant 2	Bone marrow hypocellularity, Aplastic anemia, Oral leukoplakia, Premature graying of hair, Pancyt...	OMIM:613989
Thyroid Hypoplasia	Growth delay, Hypothyroidism, Constipation, Abdominal distention, Short stature, Macroglossia, Th...	ORPHA:95720
Congenital Tufting Enteropathy	Vomiting, Secretory diarrhea, Abnormal large intestinal mucosa morphology, Villous atrophy, Abnor...	ORPHA:92050
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Recurrent pneumonia, Recurrent tonsillitis, Lymphadenitis, Granuloma, Anal fissure, Lymphopenia, ...	OMIM:618935
Vici Syndrome	Recurrent viral infections, Lymphopenia, Postnatal growth retardation, Decreased proportion of CD...	OMIM:242840
Al Amyloidosis	Howell-Jolly bodies, Gastrointestinal hemorrhage, Xerostomia, Gastroparesis, Increased circulatin...	ORPHA:85443
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Diarrhea, Vomiting, Lethargy, Gait disturbance, Megaloblastic anemia, Neutropenia, Short stature,...	OMIM:250940
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Abdominal distention, Increased mean corpuscular he...	ORPHA:822
Omenn Syndrome	Alopecia, Sepsis, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Eosinophilia, Hypot...	ORPHA:39041
Immunodeficiency 55	Diarrhea, Absent natural killer cells, Lymphopenia, Intrauterine growth retardation, Postnatal gr...	OMIM:617827
Congenital Disorder Of Glycosylation, Type Iij	Hepatic failure, Recurrent infection of the gastrointestinal tract, Splenomegaly, Thick hair, Ata...	OMIM:613489
Rapadilino Syndrome	High, narrow palate, Sparse eyebrow, Sparse scalp hair, Diarrhea, Feeding difficulties, Sparse ey...	OMIM:266280
Homozygous 11P15-P14 Deletion Syndrome	Abnormal intestine morphology, Diarrhea, Feeding difficulties in infancy, Vomiting	OMIM:606528
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating IgG level, Hepatosplenomegaly, Complete or near-complete absence of specifi...	OMIM:301081
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Growth delay, Megaloblastic anemia, Absence of intrinsic factor	OMIM:243320
Dysostosis Multiplex, Ain-Naz Type	Severe short stature, Difficulty walking, Abdominal distention	OMIM:619345
Inflammatory Skin And Bowel Disease, Neonatal, 1	Paronychia, Bloody diarrhea, Increased circulating IgE level, Villous atrophy, Duodenitis, Onycho...	OMIM:614328
Congenital Disorder Of Glycosylation, Type Iil	Inflammation of the large intestine, Decreased specific anti-polysaccharide antibody level, Impai...	OMIM:614576
Autoinflammatory-Pancytopenia Syndrome	Granuloma, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Intestinal inflammation, Severe Ep...	OMIM:619858
Folinic Acid-Responsive Seizures	Difficulty walking, Broad-based gait, Abdominal distention, Ataxia	ORPHA:79097
Thyroid Hemiagenesis	Hyperparathyroidism, Graves disease, Increased circulating free T3, Hashimoto thyroiditis, Consti...	ORPHA:95719
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Malnutrition, Protracted diarrhea, Villous atrophy, Abnormal intestine morphology, Growth delay	OMIM:251850
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive...	ORPHA:3261
Fg Syndrome 3	Fine hair, Frontal upsweep of hair, Cryptorchidism, Chronic constipation, Sparse hair, Feeding di...	OMIM:300406
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Fine hair, Cryptorchidism, Gait disturbance, Ataxia, Sparse hair	ORPHA:1174
Primary Biliary Cholangitis	Hepatic failure, Splenomegaly, Increased circulating IgA level, Recurrent fungal infections, Onyc...	ORPHA:186
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Glucose/Galactose Malabsorption	Hyperactive bowel sounds, Malabsorption, Chronic diarrhea, Abdominal distention	OMIM:606824
Intermediate Generalized Junctional Epidermolysis Bullosa	Sparse body hair, Nail dystrophy, Scarring alopecia of scalp, Anonychia, Anemia, Growth delay	ORPHA:79402
Primary Peritoneal Carcinoma	Nausea and vomiting, Peritonitis, Constipation, Abdominal distention, Abdominal pain	ORPHA:168829
5-Oxoprolinase Deficiency	Diarrhea, Abdominal pain, Vomiting, Enterocolitis	OMIM:260005
Typhoid	Gastrointestinal hemorrhage, Diarrhea, Splenomegaly, Infectious encephalitis, Lethargy, Constipat...	ORPHA:99745
Oculogastrointestinal Muscular Dystrophy	Intestinal pseudo-obstruction, Gastroparesis, Malabsorption, Abnormal gastric mucosa morphology, ...	ORPHA:1876
Visceral Myopathy 1	Microcolon, Vomiting, Diarrhea, Intestinal pseudo-obstruction, Malnutrition, Gastroparesis, Megad...	OMIM:155310
Syndromic X-Linked Intellectual Disability 7	Short stature, Cryptorchidism, Sparse body hair	ORPHA:85274
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Exocrine pancreatic ...	OMIM:620005
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails, Alopecia of scalp	OMIM:617294
Classic Galactosemia	Hepatic failure, Sepsis, Diarrhea, Vomiting, Gait imbalance, Cryptorchidism, Lethargy, Abnormal e...	ORPHA:79239
Brunner Syndrome	Diarrhea	OMIM:300615
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Recurrent otitis media, Recurrent lower respiratory tract infections, Celiac disease, Recurrent s...	ORPHA:183675
Dyskeratosis Congenita, Autosomal Dominant 1	Bone marrow hypocellularity, Alopecia, Aplastic anemia, Increased mean corpuscular volume, Oral l...	OMIM:127550
Burkitt Lymphoma	Gastrointestinal hemorrhage, Abnormal lymph node morphology, Abnormality of the ovary, Abnormalit...	ORPHA:543
Dracunculiasis	Diarrhea, Nausea and vomiting, Recurrent cutaneous abscess formation	ORPHA:231
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Abdominal distention	OMIM:174050
Congenital Enterocyte Heparan Sulfate Deficiency	Protein-losing enteropathy, Diarrhea, Hematochezia, Abdominal distention	ORPHA:103910
Waldenström Macroglobulinemia	Normocytic anemia, Recurrent infections, Monoclonal immunoglobulin M proteinemia, Gastrointestina...	ORPHA:33226
Primary Effusion Lymphoma	Abdominal pain, Abdominal distention	ORPHA:48686
Igg4-Related Aortitis	Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat...	ORPHA:449400
Congenital Toxoplasmosis	Diarrhea, Intrauterine growth retardation, Lymphadenopathy, Thrombocytopenia, Anemia	ORPHA:858
Kasabach-Merritt Phenomenon	Abdominal distention, Microangiopathic hemolytic anemia, Hypertrichosis, Leukopenia, Reticulocyto...	ORPHA:2330
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Recurrent respiratory infections, Decreased circulating antibody level, Leukocytosis, Splenomegaly	OMIM:618042
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Fine hair, White hair, Lymphopenia, Malabsorption, Agammaglobulinemia, Aganglionic megacolon, Ane...	ORPHA:935
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Gastroesophageal reflux, Decreased circulating IgA level, Pancytopenia, Hypersplenism, Splenomega...	OMIM:613385
Gonadoblastoma	Ovarian gonadoblastoma, Abnormality of the ovary, Hirsutism, Abdominal distention, Abdominal pain...	ORPHA:206484
Trichothiodystrophy 9, Nonphotosensitive	High, narrow palate, Sparse eyebrow, Tiger tail banding, Nail dystrophy, Ataxia, Sparse hair	OMIM:619692
Dyskeratosis Congenita, Autosomal Recessive 6	Bone marrow hypocellularity, Alopecia, Oral leukoplakia, Intrauterine growth retardation, Nail dy...	OMIM:616353
Lysosomal Acid Lipase Deficiency	Hepatic failure, Diarrhea, Vomiting, Decreased liver function, Malnutrition, Hepatosplenomegaly, ...	ORPHA:275761
Leukocyte Adhesion Deficiency Type Ii	Microcytic anemia, Recurrent otitis media, Protruding tongue, Ataxia, Neutrophilia, Long eyelashe...	ORPHA:99843
Mogs-Cdg	Decreased circulating IgG level, Alopecia, Fair hair, Nasogastric tube feeding, Decreased circula...	ORPHA:79330
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Alopecia universalis, Cholelithiasis, Alopecia, Diarrhea, Chronic mucocutaneo...	OMIM:240300
Xq27.3Q28 Duplication Syndrome	Sparse body hair, Decreased testicular size, Intrauterine growth retardation, Cryptorchidism, Sho...	ORPHA:261483
Mirage Syndrome	Gastroesophageal reflux, Sepsis, Recurrent urinary tract infections, Lymphopenia, Adrenal insuffi...	OMIM:617053
Cholesteryl Ester Storage Disease	Hepatic failure, Diarrhea, Nausea and vomiting, Splenomegaly, Esophageal varix	ORPHA:75234
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Peptic ulcer, Diarrhea, Chronic myelomonocytic leukemia, Leukocytosis, Splenom...	ORPHA:98849
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Diarrhea, Vomiting, Microangiopathic hemolytic anemia, Bloody diarrhea, Acute colitis, Leukocytos...	ORPHA:90038
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Sepsis, Graves disease, Adrenocorticotropin deficient adrenal insufficiency, P...	ORPHA:199299
Lassa Fever	Diarrhea, Sepsis, Nausea and vomiting, Abdominal pain, Increased circulating IgM level, Dysphagia	ORPHA:99824
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia	Gastroesophageal reflux, Vomiting, Eosinophilic microabscess formation in the esophagus, Feeding ...	ORPHA:411696
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Alopecia, Severe B lymphocytopenia, Recurrent viral infections, Adrenocorticotropin deficient adr...	ORPHA:293978
Inflammatory Bowel Disease (Crohn Disease) 1	Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct...	OMIM:266600
Immunodeficiency 87 And Autoimmunity	Recurrent viral infections, Lymphopenia, Decreased CD4:CD8 ratio, Persistent EBV viremia, Atrophi...	OMIM:619573
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia, Recurrent bacterial infections	OMIM:619693
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Gastroesophageal reflux, Malnutrition, Ataxia, Intermittent diarrhea, Feeding difficulties	OMIM:619971
Revesz Syndrome	Bone marrow hypocellularity, Broad-based gait, Ridged fingernail, Aplastic anemia, Oral leukoplak...	OMIM:268130
Pouchitis	Hematochezia, Diarrhea, Tenesmus, Clostridium difficile colitis, Bowel urgency, Abdominal pain, A...	ORPHA:217067
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Bone Marrow Failure Syndrome 3	Aplastic anemia, Small nail, Persistence of hemoglobin F, Pancytopenia, Cryptorchidism, Acute mye...	OMIM:617052
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Sepsis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil anti...	ORPHA:231154
Refractory Celiac Disease	Normocytic anemia, Protein-losing enteropathy, Jejunitis, Microcytic anemia, Malnutrition, Abnorm...	ORPHA:398063
Lactase Deficiency, Congenital	Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level	OMIM:223000
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Severe short stature, Onychogryposis of fingernail, Alopecia, Ridged fingernail, Fingernail dyspl...	ORPHA:2251
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Protein-losing enteropathy, Hepatic failure, Hypertrichosis, Pancreatic lymphangiectasis, Postnat...	ORPHA:1655
Letterer-Siwe Disease	Abdominal distention, Hepatosplenomegaly, Neutropenia, Thrombocytopenia, Anemia, Stomatitis	OMIM:246400
Syndromic Recessive X-Linked Ichthyosis	Acute leukemia, Abnormal stomach morphology, Cryptorchidism, Testicular seminoma, Hypohidrosis, S...	ORPHA:281090
Dengue Fever	Gastrointestinal hemorrhage, Diarrhea, Leukopenia, Nausea and vomiting, Lethargy, Thrombocytopeni...	ORPHA:99828
Cutaneous Photosensitivity And Colitis, Lethal	Colitis, Diarrhea	OMIM:219095
Diarrhea 7, Protein-Losing Enteropathy Type	Protein-losing enteropathy, Diarrhea, Vomiting, Abdominal colic, Villous atrophy	OMIM:615863
Mitochondrial Complex I Deficiency, Nuclear Type 33	Intrauterine growth retardation, Loss of ambulation, Neutropenia, Sparse hair, Dysphagia, Feeding...	OMIM:618253
Congenital Disorder Of Glycosylation, Type Ii	Gastroesophageal reflux, Diarrhea, Nasogastric tube feeding, Hypothyroidism, Iron deficiency anem...	OMIM:607906
Neuropathy, Hereditary Sensory And Autonomic, Type Vii	Diarrhea, Hyperhidrosis, Constipation	OMIM:615548
Hereditary Fructose Intolerance	Diarrhea, Vomiting, Nausea, Lethargy, Chronic hepatic failure, Constipation, Abdominal distention...	ORPHA:469
Inflammatory Bowel Disease (Crohn Disease) 30	Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal...	OMIM:619079
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities	High, narrow palate, Sparse hair, Cryptorchidism, Constipation	OMIM:273390
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Diarrhea, Vomiting, Malnutrition, Abnormality of the spleen, Lymphoc...	ORPHA:79456
Bone Marrow Failure Syndrome 5	Growth delay, Oral leukoplakia, Nail dystrophy, Erythroid hypoplasia, Anemia, Pure red cell aplas...	OMIM:618165
Immunodeficiency 26 With Or Without Neurologic Abnormalities	Abnormal natural killer cell morphology, Intrauterine growth retardation, Recurrent aphthous stom...	OMIM:615966
Noonan Syndrome 6	Juvenile myelomonocytic leukemia, Cryptorchidism, Low posterior hairline, Curly hair, Short statu...	OMIM:613224
Smith-Kingsmore Syndrome	Rhizomelia, Decreased circulating IgA level, Cryptorchidism, Thrombocytopenia, Curly hair, Feedin...	OMIM:616638
Immunodeficiency 47	Accessory spleen, Normocytic anemia, Decreased circulating total IgG, Chronic decreased circulati...	OMIM:300972
Sézary Syndrome	Alopecia, Abnormal lymphocyte morphology, Splenomegaly, Nail dystrophy, Abnormal immunoglobulin l...	ORPHA:3162
Hereditary Central Diabetes Insipidus	Diarrhea, Lethargy, Vomiting, Growth delay	ORPHA:30925
Visceral Myopathy, Familial, With External Ophthalmoplegia	Malnutrition, Gastroparesis, Abdominal distention, Abdominal pain, Spontaneous esophageal perfora...	OMIM:277320
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Diarrhea, Vomiting, Leukopenia, Lethargy, Pancreatitis, Thrombocytopenia, Neutropenia, Feeding di...	OMIM:251000
Ectodermal Dysplasia And Immunodeficiency 2	Recurrent infection of the gastrointestinal tract, Splenomegaly, Chronic diarrhea, Defective prod...	OMIM:612132
Dyskeratosis Congenita	White hair, Premature graying of hair, Sparse hair, Esophageal stenosis, Alopecia, Abnormal eyebr...	ORPHA:1775
Sialuria	Splenomegaly, Hirsutism, Low posterior hairline, Generalized hirsutism, Hypoplastic nipples, Prot...	OMIM:269921
Thrombotic Thrombocytopenic Purpura	Diarrhea, Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Abdominal pain	ORPHA:54057
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia, Persistent human papillomavirus infection, Cryptococcal meningitis	OMIM:618309
Focal Facial Dermal Dysplasia 3, Setleis Type	Low anterior hairline, Distichiasis, Anal atresia, Sparse hair, Absent lower eyelashes	OMIM:227260
Woolly Hair, Autosomal Recessive 3	Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Curly hair, Sparse hair, Sparse scalp hair	OMIM:616760
Ectodermal Dysplasia, Trichoodontoonychial Type	Sparse body hair, Abnormal toenail morphology, Aplasia/Hypoplasia of the eyebrow, Abnormal eyelas...	ORPHA:1818
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Recurrent pneumonia, Hemophagocytosis, Severe viral infection, Acute hepatic failur...	OMIM:619644
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Recurrent upper respiratory tract infections, Diarrhea, Vomiting, Pancreatitis, Abdominal pain	OMIM:620137
Complement Component 5 Deficiency	Intractable diarrhea, Recurrent Neisserial infections, Recurrent meningococcal disease, Decreased...	OMIM:609536
Achondrogenesis, Type Ib	Neonatal short-limb short stature, Abdominal distention	OMIM:600972
Sandhoff Disease, Juvenile Form	Diarrhea, Constipation, Gait disturbance, Ataxia, Dysphagia	ORPHA:309162
Autoinflammation With Arthritis And Dyskeratosis	Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Increased circulating IgA level, In...	OMIM:617388
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating interleukin 8 concentration, Premature graying of hair, Microcytic anemia, ...	OMIM:256040
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Sparse eyebrow, Fine hair, Ridged nail, Sparse eyelashes, Hypohidrosis, Slow-growing hair, Sparse...	OMIM:129490
Achondrogenesis Type 1A	Severe short stature, Abdominal distention	ORPHA:93299
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Protein-losing enteropathy, Hepatic failure, Hypertrichosis, Pancreatic lymphangiectasis, Cryptor...	OMIM:235255
Mucopolysaccharidosis, Type Iiic	Recurrent upper respiratory tract infections, Coarse hair, Diarrhea, Hypertrichosis, Splenomegaly...	OMIM:252930
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Folate-unresponsive megaloblastic anemia, Diarrhea, Abnormal erythrocyte morphology, Gastritis, M...	ORPHA:2575
Spontaneous Periodic Hypothermia	Diarrhea, Nausea and vomiting, Gait disturbance, Hyperhidrosis, Ataxia	ORPHA:29822
Neuroblastoma	Abdominal distention, Antalgic gait, Lymphadenopathy, Thrombocytopenia, Ataxia, Anemia, Chronic d...	ORPHA:635
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Bone marrow hypocellularity, Intestinal bleeding, Oral leukoplakia, Fine hair, Premature graying ...	OMIM:612199
Lipodystrophy, Congenital Generalized, Type 4	Recurrent pneumonia, Decreased circulating IgA level, Ileus, Splenomegaly, Hirsutism, Constipatio...	OMIM:613327
Combined Oxidative Phosphorylation Deficiency 53	Short stature, Hypochromic microcytic anemia, Abdominal distention	OMIM:619423
Dyskeratosis Congenita, Autosomal Recessive 8	Bone marrow hypocellularity, Reduced natural killer cell count, Inflammation of the large intesti...	OMIM:620133
Ovarian Fibrothecoma	Abnormality of the ovary, Hirsutism, Ovarian fibroma, Peritonitis, Abdominal distention, Abdomina...	ORPHA:314478
2Q32Q33 Microdeletion Syndrome	Fine hair, Decreased testicular size, Feeding difficulties, Short stature, High palate, Sparse ha...	ORPHA:251019
Glycogen Storage Disease Ixb	Short stature, Diarrhea, Growth delay, Splenomegaly	OMIM:261750
Hypotrichosis 7	Abnormal sweat gland morphology, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axill...	OMIM:604379
Aromatic L-Amino Acid Decarboxylase Deficiency	Gastroesophageal reflux, Diarrhea, Increased circulating prolactin concentration, Constipation, H...	ORPHA:35708
Radiation Proctitis	Hematochezia, Sepsis, Diarrhea, Tenesmus, Abnormal rectum morphology, Intestinal obstruction, Abd...	ORPHA:70475
Peritoneal Cystic Mesothelioma	Abdominal pain, Peritonitis, Constipation, Abdominal distention	ORPHA:168816
Pancreatic Triacylglycerol Lipase Deficiency	Diarrhea, Exocrine pancreatic insufficiency, Abdominal pain, Iron deficiency anemia, Abdominal di...	ORPHA:309031
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Recurrent respiratory infections, Hypoperistalsis, Abdominal distention, Recurrent urinary tract ...	OMIM:619365
Malignant Peritoneal Mesothelioma	Abdominal pain, Peritonitis, Ileus, Abdominal distention	ORPHA:168811
Trichohepatoenteric Syndrome 1	Sparse hair, Bifid uvula, Hepatic failure, Intractable diarrhea, Fine hair, Trichorrhexis nodosa,...	OMIM:222470
Dominant Beta-Thalassemia	Diarrhea, Growth delay, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemogl...	ORPHA:231226
Sucrase-Isomaltase Deficiency, Congenital	Abdominal pain, Diarrhea, Malabsorption	OMIM:222900
Idiopathic Hypereosinophilic Syndrome	Vomiting, Abdominal distention, Cervical lymphadenopathy, Hepatosplenomegaly, Thrombocytosis, Leu...	ORPHA:3260
Riddle Syndrome	Decreased circulating IgG level, Recurrent pneumonia, Recurrent viral infections, Diarrhea, Decre...	ORPHA:420741
Filippi Syndrome	Hypertrichosis, Postnatal growth retardation, Intrauterine growth retardation, Cryptorchidism, Fr...	OMIM:272440
Amoebiasis Due To Entamoeba Histolytica	Diarrhea, Protracted diarrhea, Bloody diarrhea, Leukocytosis, Intestinal obstruction, Gastrointes...	ORPHA:67
Hypocomplementemic Urticarial Vasculitis	Diarrhea, Reduced circulating complement concentration, Nausea and vomiting, Splenomegaly, Abdomi...	ORPHA:36412
Trichodysplasia-Xeroderma Syndrome	Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Trichodysplasia, P...	ORPHA:3361
Infection-Related Hemolytic Uremic Syndrome	Diarrhea, Abdominal pain, Meningitis, Intestinal perforation, Abnormal circulating chemokine conc...	ORPHA:544482
Peripheral Primitive Neuroectodermal Tumor	Anorexia, Nausea and vomiting, Episodic abdominal pain, Pancreatitis, Abdominal distention, Anemi...	ORPHA:370348
Mucopolysaccharidosis, Type Iiib	Recurrent upper respiratory tract infections, Coarse hair, Diarrhea, Splenomegaly, Hirsutism, Syn...	OMIM:252920
Hypotrichosis 9	Sparse eyebrow, Sparse body hair, Hypohidrosis, Abnormal eyelash morphology, Abnormality of the n...	OMIM:614237
Progeria-Short Stature-Pigmented Nevi Syndrome	Bifid uvula, Broad-based gait, Recurrent viral infections, Gastroesophageal reflux, Alopecia, Mic...	ORPHA:2959
Autoinflammatory Disease, Systemic, With Vasculitis	Diarrhea, Increased circulating interleukin 6 concentration, Parotitis, Decreased circulating IgA...	OMIM:620376
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Diarrhea, Recurrent respiratory infections, Hepatosplenomegaly, ...	OMIM:618278
Acquired Hypertrichosis Lanuginosa	Fine hair, Abnormal eyebrow morphology, Chronic diarrhea, Generalized hirsutism, Lymphadenopathy,...	ORPHA:2221
Mucoepithelial Dysplasia, Hereditary	Recurrent pneumonia, Alopecia, Coarse hair, Chronic mucocutaneous candidiasis, Furrowed tongue, C...	OMIM:158310
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Fine hair, Intrauterine growth retardation, Gait ataxia, Cryptorchidism, Hypothyroidism, Delayed ...	OMIM:616817
Pseudoprogeria Syndrome	Alopecia, Sparse eyebrow, Absent eyelashes, Absent eyebrow, Short stature, Sparse hair, Growth delay	ORPHA:2985
Glucose-Galactose Malabsorption	Diarrhea, Vomiting, Malnutrition, Hyperactive bowel sounds, Osmotic diarrhea, Abdominal distention	ORPHA:35710
Nicolaides-Baraitser Syndrome	High, narrow palate, Severe short stature, Alopecia, Highly arched eyebrow, Long eyelashes, Curly...	ORPHA:3051
Hypothyroidism, Congenital, Nongoitrous, 2

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