Gene: Rc3h1 MGI:2685397

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

RING CCCH (C3H) domains 1

Synonyms:

5730557L09Rik, roquin

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 Rc3h1 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 Rc3h1 (0 diseases)
Human diseases predicted to be associated with Rc3h1 (1426 diseases)

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

The table below shows human diseases predicted to be associated to Rc3h1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Inflammatory Bowel Disease 29	Ulcerative colitis, Crohn's disease	OMIM:618077
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Systemic lupus erythematosus, Recurrent otitis media, Lymphopenia, Autoimmunity, Splen...	ORPHA:444463
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level, Abnormality of the liver, Absence of lymph node germinal center	OMIM:235550
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Splenomegaly, Antinuclear antibody ...	OMIM:619375
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Minimal change glomerulonephritis, Nephrotic syndrome, Autoimmunity, Podocyte foot process efface...	OMIM:617006
Systemic Lupus Erythematosus 16	Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Antinuclear antibody positivity, Lu...	OMIM:614420
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Glomerulonephritis	OMIM:247800
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Bloody diarrhea, Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia, Ulc...	OMIM:619398
Lymphoproliferative Syndrome, X-Linked, 2	Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hepatitis, Hemophagocytosis, ...	OMIM:300635
Autoinflammation With Infantile Enterocolitis	Hypoalbuminemia, Reduced natural killer cell count, Secretory diarrhea, Failure to thrive, Increa...	OMIM:616050
Immune Thrombocytopenia	Thrombocytopenia, Platelet antibody positive	OMIM:188030
Immunodeficiency 24	Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell...	OMIM:615897
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level...	OMIM:618534
Immunodeficiency, Common Variable, 11	Decreased circulating IgG level, Inflammation of the large intestine, Abnormal T cell count, Fail...	OMIM:615767
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Facial papilloma, Autoimmune hemolytic anemia, Lymphadenopathy, Neutrop...	OMIM:619220
Nephrotic Syndrome, Type 7	Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kidney disease, Podo...	OMIM:615008
Hepatocellular Carcinoma	Micronodular cirrhosis, Subacute progressive viral hepatitis, Hepatocellular carcinoma	OMIM:114550
Inflammatory Bowel Disease 13	Inflammation of the large intestine	OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19	Inflammation of the large intestine	OMIM:612278
Immunodeficiency 76	Recurrent pneumonia, Lymphopenia, Splenomegaly, T lymphocytopenia, Lymphadenopathy, B lymphocytop...	OMIM:619164
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of mem...	OMIM:618982
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
C1Q Deficiency 1	Autoimmunity, Membranoproliferative glomerulonephritis, Systemic lupus erythematosus	OMIM:613652
Systemic Lupus Erythematosus	Nephritis, Systemic lupus erythematosus, Leukopenia, Malar rash, Antinuclear antibody positivity,...	OMIM:152700
Diarrhea 6	Abdominal pain, Chronic diarrhea, Meteorism, Crohn's disease	OMIM:614616
Complement Component C1S Deficiency	Hashimoto thyroiditis, Hepatitis, Systemic lupus erythematosus	OMIM:613783
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina...	OMIM:606843
Complement Component 3 Deficiency, Autosomal Recessive	Recurrent pneumonia, Recurrent tonsillitis, Systemic lupus erythematosus, Renal insufficiency, Me...	OMIM:613779
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci...	OMIM:618261
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Abnormal natu...	OMIM:613101
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Vomiting, Reduced natura...	OMIM:619510
Immunodeficiency 70	Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, Recurrent s...	OMIM:618969
Mhc Class Ii Deficiency 1	Cutaneous anergy, Chronic mucocutaneous candidiasis, Failure to thrive, Protracted diarrhea, Panh...	OMIM:209920
Inflammatory Bowel Disease 3	Ulcerative colitis	OMIM:604519
Inflammatory Bowel Disease 21	Ulcerative colitis	OMIM:612354
Immunodeficiency 37	Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Decreased circu...	OMIM:616098
Immunodeficiency 97 With Autoinflammation	Diarrhea, Hemophagocytosis, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Decreased pr...	OMIM:619802
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pneumonia, Decrea...	OMIM:619281
Diamond-Blackfan Anemia 19	Anemia, Erythroid hypoplasia, Steroid-responsive anemia	OMIM:618312
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
Diarrhea 5, With Tufting Enteropathy, Congenital	Intractable diarrhea, Failure to thrive, Villous atrophy, Arthritis, Crypt hyperplasia, Small for...	OMIM:613217
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, D...	OMIM:615513
Squamous Cell Carcinoma Of The Esophagus	Esophageal carcinoma, Lymphadenopathy	ORPHA:99977
Immunodeficiency, Common Variable, 6	Abnormal T cell count, Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Abnor...	OMIM:613496
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Refractory Celiac Disease	Inflammatory abnormality of the skin, Microcytic anemia, Weight loss, Hypophosphatemia, Abdominal...	ORPHA:398063
Immunodeficiency 57 With Autoinflammation	Inflammation of the large intestine, Diarrhea, Partial absence of specific antibody response to t...	OMIM:618108
Immunodeficiency 105	Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina...	OMIM:619924
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen...	OMIM:605258
Autoimmune Lymphoproliferative Syndrome	Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Autoimmune hemolytic ane...	OMIM:601859
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eczematoid dermatitis, Hepatitis, Failure to thrive, Increased circulating IgE level, Decreased F...	OMIM:304790
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Bronchiectasis, Decrease...	OMIM:618394
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cervical l...	OMIM:618987
Caspase 8 Deficiency	Decreased circulating IgG level, Decreased CD4:CD8 ratio, Decreased circulating IgA level, Spleno...	OMIM:607271
Immunodeficiency, Common Variable, 8, With Autoimmunity	Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto...	OMIM:614700
Inflammatory Bowel Disease 28, Autosomal Recessive	Hematochezia, Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis	OMIM:613148
C3 Glomerulopathy 3	Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes...	OMIM:614809
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Elevated circulating C-reactive protein conc...	OMIM:604416
Kimura Disease	Increased circulating IgE level, Follicular hyperplasia, Eosinophilia, Lymphadenopathy, Abnormal ...	ORPHA:482
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Lymphopenia, Weight loss, Abdominal pain, Hypoproteinemia, Ascites, Hypocalc...	ORPHA:90362
Immunodeficiency With Hyper-Igm, Type 5	Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb...	OMIM:608106
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Protein-losing enteropathy, Vomiting, Diarrhea, Abdominal colic, Failure to thri...	OMIM:615863
Immunodeficiency 104	Pneumonia, Gastroesophageal reflux, Diarrhea, Chronic mucocutaneous candidiasis, Eczematoid derma...	OMIM:608971
Ras-Associated Autoimmune Leukoproliferative Disorder	Lymphoma, Pancytopenia, Splenomegaly, Follicular hyperplasia, Increased circulating antibody leve...	OMIM:614470
Trichohepatoenteric Syndrome 2	Decreased circulating iron concentration, Diarrhea, Small for gestational age, Failure to thrive,...	OMIM:614602
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Lymphoma, Decreased CD4:CD8 ratio, Decreas...	OMIM:300853
Immunodeficiency 40	Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Elevat...	OMIM:616433
Immunodeficiency 109 With Lymphoproliferation	Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho...	OMIM:620282
Reticuloendotheliosis, X-Linked	Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Decreased circulating antibody...	OMIM:619846
Immunodeficiency 75 With Lymphoproliferation	Lymphoma, Hepatosplenomegaly, Follicular hyperplasia, Decreased proportion of class-switched memo...	OMIM:619126
Diamond-Blackfan Anemia-Like	Steroid-responsive anemia, Pure red cell aplasia	OMIM:617911
Tn Polyagglutination Syndrome	Abnormal erythrocyte morphology, Autoimmunity	OMIM:300622
Immunodeficiency 38 With Basal Ganglia Calcification	Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy	OMIM:616126
Transient Erythroblastopenia Of Childhood	Anemia, Transient erythroblastopenia	OMIM:227050
Primary Membranoproliferative Glomerulonephritis	Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Renal insufficiency,...	ORPHA:54370
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased lymphocyte proliferation in response to anti-CD3, Increased circulating IgE level, Hepa...	OMIM:606367
Masp2 Deficiency	Recurrent pneumonia, Ulcerative colitis	OMIM:613791
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Hematuria, Glomerulonephritis, Thrombocytopenia	OMIM:314000
Nephrotic Syndrome, Type 23	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti...	OMIM:619201
Lactose Intolerance, Adult Type	Diarrhea, Lactose intolerance, Abdominal pain, Decreased small intestinal mucosa lactase level, F...	OMIM:223100
Mantle Cell Lymphoma	B-cell lymphoma, Splenomegaly, Lymphadenopathy	ORPHA:52416
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Lymphopenia, Skin rash, Ileal ulcer, Thrombocytopenia, Colitis, Hemolytic anemia, Anterior uveitis	OMIM:616744
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Decreased circulating IgG level, Lymphoproliferative disorder	OMIM:242880
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Colonic eosinophil...	OMIM:617638
Inflammatory Bowel Disease (Crohn Disease) 1	Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct...	OMIM:266600
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function	ORPHA:231393
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis	ORPHA:60026
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly, Decreased circulating total IgM	OMIM:606445
Immunodeficiency 27A	Increased circulating IgG level, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy,...	OMIM:209950
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T cells, Hepa...	ORPHA:911
Nephrotic Syndrome, Type 10	Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Podo...	OMIM:615861
Secondary Short Bowel Syndrome	Diarrhea, Vomiting, Volvulus, Failure to thrive, Malnutrition, Cholestasis, Abnormal blood ion co...	ORPHA:95427
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Decreased circulating IgG level, Inflammation of the large intestine, Eczematoid dermatitis, Chro...	ORPHA:98813
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulating IgA level, Decrea...	OMIM:617514
Hepatitis Delta	Hepatic failure, Hepatitis, Elevated circulating aspartate aminotransferase concentration, Nausea...	ORPHA:402823
Chronic Diarrhea Due To Glucoamylase Deficiency	Vomiting, Abnormal small intestinal mucosa morphology, Malabsorption, Abnormal circulating enzyme...	ORPHA:103907
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Ileal atresia, Colonic atresia, Lymphopenia, Psoriasiform dermatitis, Intestinal obstruction, Rec...	OMIM:243150
Complement Component 4B Deficiency	Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Chron...	OMIM:614379
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly...	OMIM:618495
Reticular Dysgenesis	Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital agranulocy...	OMIM:267500
Autoimmune Hepatitis	Antineutrophil antibody positivity, Inflammation of the large intestine, Elevated circulating hep...	ORPHA:2137
Immunodeficiency 82 With Systemic Inflammation	Diarrhea, Decreased circulating total IgG, Anoperineal fistula, Pustular rash, Recurrent otitis m...	OMIM:619381
Diarrhea 9	Diarrhea, Villous atrophy, Failure to thrive	OMIM:618168
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerulonephritis, Glomerular deposits	ORPHA:69063
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Abnormal T cell count, Lymphoma, Impaired T cell function, Decre...	OMIM:240500
Macrophage Activation Syndrome	Increased circulating lactate dehydrogenase concentration, Hemophagocytosis, Hepatitis, Systemic ...	ORPHA:158061
Pseudomyxoma Peritonei	Inflammation of the large intestine, Ascites, Nausea and vomiting, Intestinal obstruction, Consti...	ORPHA:26790
Diarrhea 12, With Microvillus Atrophy	Dependency on parenteral nutrition, Vomiting, Secretory diarrhea, Villous atrophy, Microvillar PA...	OMIM:619445
Autoimmune Lymphoproliferative Syndrome, Type Iia	Follicular hyperplasia, Antiphospholipid antibody positivity, Hepatomegaly, Nephrotic syndrome, A...	OMIM:603909
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Inflammation of the large intestine, Diarrhea, Psoriasiform dermatitis, Hepatomegaly, Autoimmune ...	ORPHA:436159
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Sarcoma, Mediastinal lymphadenopathy	ORPHA:66661
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Decreased circulating IgG level, Diarrhea, Eczematoid dermatitis, Lymphopenia...	OMIM:616100
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased lymphocyte proliferation in response to mitogen, Decreased proportion of CD8-positive T...	ORPHA:169154
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Abnormal intestine morphology, Villous atrophy, Malnutrition, Protracted diarrhea	OMIM:251850
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen...	OMIM:133180
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Colitis, Obesity, Cardiomegaly	ORPHA:88643
Cutaneous Photosensitivity And Colitis, Lethal	Colitis, Diarrhea	OMIM:219095
Ficolin 3 Deficiency	Necrotizing enterocolitis	OMIM:613860
Alpha-Heavy Chain Disease	Ascites, Malabsorption, Abnormal small intestine morphology, Splenomegaly, Hypocalcemia, Dysgamma...	ORPHA:100025
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Hepatic failure, Cholelithiasis, Elevated circulating hepatic transaminase conc...	ORPHA:567983
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ...	OMIM:616452
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat...	OMIM:611926
Familial Hemophagocytic Lymphohistiocytosis	Hemophagocytosis, Erythroderma, Neutropenia, Reduced natural killer cell activity, Hepatomegaly, ...	ORPHA:540
Diarrhea 8, Secretory Sodium, Congenital	Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium, Abdominal distention	OMIM:616868
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Pneumonia, Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mit...	ORPHA:169160
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Monoclonal immunoglobulin M proteinemia, Lymphoma, Polyclonal elevation of IgM, Impaired lymphocy...	OMIM:153600
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Immunodeficiency, Common Variable, 7	Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul...	OMIM:614699
Focal Segmental Glomerulosclerosis 10	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:256020
Bile Acid Synthesis Defect, Congenital, 1	Giant cell hepatitis, Hepatic failure, Diarrhea, Intrahepatic cholestasis, Failure to thrive, Ele...	OMIM:607765
Netherton Syndrome	Allergic rhinitis, Decreased circulating IgG level, Eczematoid dermatitis, Failure to thrive, Inc...	OMIM:256500
Complement Component 4A Deficiency	Glomerulonephritis, Systemic lupus erythematosus	OMIM:614380
Congenital Disorder Of Glycosylation, Type Ib	Hypoalbuminemia, Protein-losing enteropathy, Hepatic failure, Diarrhea, Vomiting, Failure to thri...	OMIM:602579
Immunodeficiency 31C	Protein-losing enteropathy, Diarrhea, Eczematoid dermatitis, Decreased lymphocyte proliferation i...	OMIM:614162
5-Oxoprolinase Deficiency	Vomiting, Diarrhea, Reduced circulating 5-oxoprolinase activity, Enterocolitis, Abdominal pain	OMIM:260005
Autoinflammatory-Pancytopenia Syndrome	Cholestatic liver disease, Hepatic fibrosis, Granuloma, Hemophagocytosis, Failure to thrive, Hepa...	OMIM:619858
Inflammatory Skin And Bowel Disease, Neonatal, 1	Blepharitis, Failure to thrive, Increased circulating IgE level, Villous atrophy, Duodenitis, Pus...	OMIM:614328
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Idiopathic Non-Lupus Full-House Nephropathy	Acute kidney injury, Abnormal glomerular mesangium morphology, Renal insufficiency, Skin rash, Gl...	ORPHA:567544
Dyskeratosis Congenita, Autosomal Recessive 5	Bone marrow hypocellularity, Leukopenia, Colitis, Decreased circulating antibody level, Esophagea...	OMIM:615190
Inflammatory Bowel Disease (Crohn Disease) 30	Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal...	OMIM:619079
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Antinuclear antibody positivity, Lymphade...	OMIM:618852
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgG level, Protein-losing enteropathy, Recurrent pneumonia, Recurrent otiti...	OMIM:613502
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Reduced na...	ORPHA:276
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C...	ORPHA:37042
Lymphoma, Hodgkin, Classic	Hodgkin lymphoma, Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemag...	OMIM:236000
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Hematochezia, Hepatic failure, Diarrhea, Intrahepatic cholestasis, Hep...	OMIM:613812
Immunodeficiency 103, Susceptibility To Fungal Infections	Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of...	OMIM:212050
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Lymphade...	ORPHA:100024
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Recurrent pneumonia, Recurrent tonsillitis, Lymphadenitis, Eczematoid dermatitis, Granuloma, Anal...	OMIM:618935
Sea-Blue Histiocyte Disease	Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega...	OMIM:269600
Activated Pi3K-Delta Syndrome	Pneumonia, Recurrent tonsillitis, Failure to thrive, Recurrent otitis media, Decreased circulatin...	ORPHA:397596
Immunodeficiency 18	Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD...	OMIM:615615
Immunodeficiency 95	Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level	OMIM:619773
Neutrophilia, Hereditary	Myelodysplasia, Splenomegaly, Neutrophilia	OMIM:162830
Atypical Hemolytic Uremic Syndrome	Acute kidney injury, Microangiopathic hemolytic anemia, Abnormal circulating lactate dehydrogenas...	ORPHA:2134
Gastroesophageal Reflux	Barrett esophagus, Esophagitis, Gastroesophageal reflux, Esophageal neoplasm	OMIM:109350
Nephrotic Syndrome, Type 16	Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria	OMIM:617783
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Immunodeficiency 115 With Autoinflammation	Hypoalbuminemia, Decreased circulating IgG level, Eczematoid dermatitis, Intestinal lymphangiecta...	OMIM:620632
Immunodeficiency, Common Variable, 1	Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu...	OMIM:607594
Congenital Tufting Enteropathy	Cholestatic liver disease, Vomiting, Secretory diarrhea, Failure to thrive, Abnormal large intest...	ORPHA:92050
Idiopathic Pulmonary Hemosiderosis	Antineutrophil antibody positivity, Hepatosplenomegaly, Antinuclear antibody positivity, Iron def...	ORPHA:99931
Preeclampsia/Eclampsia 1	Proteinuria, Elevated circulating hepatic transaminase concentration, Thrombocytopenia	OMIM:189800
Amoebiasis Due To Entamoeba Histolytica	Hypoalbuminemia, Diarrhea, Elevated circulating hepatic transaminase concentration, Protracted di...	ORPHA:67
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes	Decreased circulating IgG level, T lymphocytopenia	OMIM:242870
Immunodeficiency 48	Pneumonia, Eczematoid dermatitis, Failure to thrive, Panhypogammaglobulinemia, Abnormal B cell co...	OMIM:269840
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Viral hepatitis, Abnormal pancreas morpho...	ORPHA:139507
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropen...	OMIM:615285
Diamond-Blackfan Anemia 17	Anemia	OMIM:617409
C3 Glomerulopathy	Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Stage 5 ...	ORPHA:329918
Chylomicron Retention Disease	Hypoalbuminemia, Diarrhea, Vomiting, Failure to thrive, Hypotriglyceridemia, Malnutrition, Hypoch...	OMIM:246700
Autoinflammation, Immune Dysregulation, And Eosinophilia	Atopic dermatitis, Failure to thrive, Hepatosplenomegaly, Hepatic cysts, Colonic eosinophilia, Eo...	OMIM:618999
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating IgA level, Interstitial pneumonitis, Enterocolitis, Decreased proportion of...	OMIM:614878
Kerion Celsi	Recurrent cutaneous abscess formation, Lymphadenopathy	ORPHA:499
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Decreased proportion of memory B cells, Inflammation of the large intestine, Diarrhea, Anoperinea...	OMIM:301074
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Incre...	OMIM:619644
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Portal fibrosis, Secretory diarrhea, Failure to thrive, Cholestasis, Increased ...	OMIM:619377
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Splenomegaly, Skin rash, Hepatomegaly, Jaundice, Lymphadenopathy, Thrombocytope...	OMIM:603552
Immunodeficiency With Hyper-Igm, Type 1	Diarrhea, Enteroviral encephalitis, Increased circulating IgA level, Cirrhosis, Neutropenia, Hepa...	OMIM:308230
Severe Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Reduced natural killer cell activity, Decreased circulating IgA ...	OMIM:300400
Systemic Lupus Erythematosus 17	Myelitis, Anti-aquaporin 4 antibody positivity, Systemic lupus erythematosus, Lymphopenia, Leukop...	OMIM:301080
Immunodeficiency 87 And Autoimmunity	Elevated gamma-glutamyltransferase level, Cholestasis, Lymphopenia, Decreased CD4:CD8 ratio, Hepa...	OMIM:619573
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia	OMIM:200900
Adenocarcinoma Of The Esophagus	Barrett esophagus, Esophageal carcinoma, Lymphadenopathy	ORPHA:99976
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619824
Inflammatory Bowel Disease 25, Autosomal Recessive	Folliculitis, Pancolitis, Perianal abscess, Enterocutaneous fistula, Enterocolitis, Rectovaginal ...	OMIM:612567
Cernunnos-Xlf Deficiency	Lymphopenia, Autoimmunity, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia	ORPHA:169079
Histiocytosis, Familial Lipochrome	Histiocytosis, Increased circulating antibody level	OMIM:235900
Beta-Thalassemia	Cholelithiasis, Hepatitis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Th...	ORPHA:848
Immunodeficiency 10	Decreased circulating IgG level, Decreased circulating IgA level, Splenomegaly, Autoimmune hemoly...	OMIM:612783
Lymphoproliferative Syndrome, X-Linked, 1	Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Lympho...	OMIM:308240
Immunodeficiency By Defective Expression Of Mhc Class Ii	Diarrhea, Abnormal CD4:CD8 ratio, Protracted diarrhea, Pancytopenia, Decreased proportion of CD4-...	ORPHA:572
Pulmonary Hypoplasia, Primary	Pulmonary hypoplasia, Neonatal death	OMIM:265430
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Gastroesophageal reflux, Decreased circulating carnitine concentration, Hepa...	OMIM:201475
Diarrhea 11, Malabsorptive, Congenital	Diarrhea, Villous atrophy	OMIM:618662
Immunodeficiency With Hyper-Igm, Type 4	Absence of lymph node germinal center, Myelodysplasia, Autoimmune hemolytic anemia, Impaired Ig c...	OMIM:608184
Epidermolysis Bullosa Acquisita	Abdominal pain, Inflammation of the large intestine	ORPHA:46487
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Antinuclear antibody positivity, Crescentic glomerulonephritis, Mesangial hypercellularity, Arthr...	OMIM:616414
Cyclic Neutropenia	Recurrent tonsillitis, Periodontitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, ...	ORPHA:2686
Isolated Agammaglobulinemia	Pneumonia, Abnormal lymphocyte morphology, Autoimmunity, Otitis media, Skin rash, Abnormality of ...	ORPHA:229717
Nephrotic Syndrome, Type 15	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Steroid-resistant...	OMIM:617609
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Goiter, Abnormal lymph node morphology, Neoplasm of head and neck, Papillary renal cell carcinoma...	ORPHA:97290
Immunodeficiency, Common Variable, 5	Abnormal T cell count, Abnormal B cell count, Chronic decreased circulating total IgG	OMIM:613495
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Immunodeficiency 25	Increased circulating IgE level, Complete or near-complete absence of specific antibody response ...	OMIM:610163
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Abnormality of humoral immunity, Absence of lymph node germinal center, Lack of T cell function, ...	ORPHA:277
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect	OMIM:615041
Proteasome-Associated Autoinflammatory Syndrome 5	Failure to thrive in infancy, Splenomegaly, Skin rash, Hypertriglyceridemia, Hepatomegaly	OMIM:619175
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Gamma-Heavy Chain Disease	Rheumatoid arthritis, Abnormal lymphocyte morphology, Autoimmunity, Splenomegaly, Autoimmune hemo...	ORPHA:100026
X-Linked Agammaglobulinemia	Recurrent pneumonia, Hepatitis, Conjunctivitis, Osteomyelitis, Autoimmunity, Skin rash, Abnormali...	ORPHA:47
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Splenomegaly, Inc...	OMIM:194380
Hyperlipoproteinemia, Type Id	Failure to thrive, Increased circulating chylomicron concentration, Splenomegaly, Hypertriglyceri...	OMIM:615947
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Lymphoma, Splenomegaly, B-cell lymphoma, Lymphadenopathy, Hepatomegaly, Breast carcinoma	ORPHA:86893
Hemochromatosis, Neonatal	Hepatic fibrosis, Hepatic failure, Increased circulating iron concentration, Increased circulatin...	OMIM:231100
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Panhypogammaglobulinemia, Increased circula...	OMIM:602450
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Abnormal circulating IgM level, Increased circulating IgA...	OMIM:618048
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Syndromic Diarrhea	Abnormality of iron homeostasis, Intractable diarrhea, Small for gestational age, Hepatic fibrosi...	ORPHA:84064
Autoinflammatory Disease, Systemic, With Vasculitis	Elevated gamma-glutamyltransferase level, Diarrhea, Cholestasis, Hepatosplenomegaly, Abnormal cir...	OMIM:620376
Inflammatory Bowel Disease 11	Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain	OMIM:191390
Carcinoid Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Lack of bowel sounds, Elevated cir...	ORPHA:100093
Congenital Disorder Of Glycosylation, Type Iil	Elevated gamma-glutamyltransferase level, Inflammation of the large intestine, Elevated circulati...	OMIM:614576
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive...	ORPHA:3261
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Diarrhea, Acute hepatic fail...	OMIM:278000
Shigellosis	Microangiopathic hemolytic anemia, Cholestasis, Abscess, Anorexia, Abdominal pain, Abnormal blood...	ORPHA:810
Hirschsprung Disease, Susceptibility To, 1	Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Enterocolitis, Constipatio...	OMIM:142623
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Inflammatory abnormality of the skin, Diarrhea, Eczematoid dermatitis, Chronic mucocutaneous cand...	ORPHA:391487
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Immunodeficiency 92	Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta...	OMIM:619652
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I...	ORPHA:79303
Congenital Disorder Of Glycosylation, Type Il	Hypoalbuminemia, Failure to thrive, Ascites, Hypocholesterolemia, Villous atrophy, Splenomegaly, ...	OMIM:608776
Monocyte Chemotactic Disorder	Cutaneous anergy	OMIM:252250
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Vomiting, Periportal f...	OMIM:251880
Immunodeficiency, Common Variable, 4	Decreased circulating total IgM, Decreased circulating IgG level, Abnormal T cell count, Complete...	OMIM:613494
Spastic Paraplegia And Evans Syndrome	Autoimmune thrombocytopenia, Coombs-positive hemolytic anemia	OMIM:601608
Griscelli Syndrome	Bone marrow hypocellularity, Hepatitis, Abnormal circulating lipid concentration, Ascites, Leukop...	ORPHA:381
Graft Versus Host Disease	Inflammatory abnormality of the skin, Diarrhea, Hemophagocytosis, Hepatosplenomegaly, Hyperbiliru...	ORPHA:39812
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hematochezia, Inflammation of the large intestine, Hepatic fibrosis, Lymphadenitis, Eczematoid de...	OMIM:615895
Immunodeficiency 69	Diarrhea, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentration, Panc...	OMIM:618963
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Portal fibrosis, Failure to thrive, In...	OMIM:619868
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Minimal change glomerulonephritis, Hematochezia, Intraalveolar phospholipid accumulation, Eczemat...	OMIM:620565
Immunodeficiency 86	Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level	OMIM:619549
Immunodeficiency 98 With Autoinflammation, X-Linked	Antineutrophil antibody positivity, Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosi...	OMIM:301078
Rosaï-Dorfman Disease	Anemia, Dysgammaglobulinemia, Lymphadenopathy	ORPHA:158014
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Reduced delayed hy...	OMIM:617241
Refractory Anemia	Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi...	ORPHA:98826
Visceral Myopathy 2	Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m...	OMIM:619350
Q Fever	Hepatosplenomegaly, Hematuria, Antiphospholipid antibody positivity, Lupus anticoagulant, Hepatom...	ORPHA:781
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Vomiting, Elevated circulating hepati...	OMIM:614480
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Lymphoproliferative Syndrome 2	Decreased lymphocyte proliferation in response to mitogen, Aplastic anemia, Hemophagocytosis, Lym...	OMIM:615122
Lymphoproliferative Syndrome 1	Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ...	OMIM:613011
Eosinophilic Gastroenteritis	Allergic rhinitis, Protein-losing enteropathy, Hematochezia, Diarrhea, Vomiting, Atopic dermatiti...	ORPHA:2070
Congenital Bile Acid Synthesis Defect Type 1	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Failure to ...	ORPHA:79301
Autosomal Agammaglobulinemia	Diarrhea, Bronchiectasis, Hepatitis, Failure to thrive, Osteomyelitis, Malabsorption, Skin rash, ...	ORPHA:33110
Schnitzler Syndrome	Lymphoma, Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia, Increased circulatin...	ORPHA:37748
Alpha-1-Antitrypsin Deficiency	Reduced circulating alpha-1-antitrypsin concentration, Elevated circulating hepatic transaminase ...	OMIM:613490
Thrombocytopenia 7	Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ...	OMIM:619130
Eosinophilia, Familial	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	OMIM:131400
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Bone marrow hypocellularity, Eczematoid dermatitis, Systemic lupus erythematosus, Leukopenia, Acu...	OMIM:616871
Pediatric Hepatocellular Carcinoma	Hepatic fibrosis, Vomiting, Hepatic necrosis, Portal vein thrombosis, Hepatomegaly, Abdominal pai...	ORPHA:33402
Wilson Disease	Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Acute ...	ORPHA:905
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Inflammation of the large in...	ORPHA:562639
Immunodeficiency 58	Allergic rhinitis, Recurrent pneumonia, Bronchiectasis, Eczematoid dermatitis, Cutaneous abscess,...	OMIM:618131
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Hyperbilirubinemia, Neutropenia, Anorexia, Hepatomegaly, Vill...	OMIM:557000
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat...	OMIM:603902
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro...	OMIM:616005
Ciliary Dyskinesia, Primary, 33	Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti...	OMIM:616726
Familial Papillary Or Follicular Thyroid Carcinoma	Follicular thyroid carcinoma, Goiter, Abnormal lymph node morphology, Neoplasm of head and neck, ...	ORPHA:319487
Hemoglobin-Delta locus	Anemia, Imbalanced hemoglobin synthesis	OMIM:142000
Boutonneuse Fever	Cervical lymphadenopathy, Leukopenia, Lymphadenopathy, Thrombocytopenia, Increased circulating Ig...	ORPHA:83313
Hepatitis, Fulminant Viral, Susceptibility To	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hashimoto thyroiditis, ...	OMIM:618549
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Diarrhea, Failure to thrive, Splenomegaly, Elevated circulating alkalin...	OMIM:601847
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Hypochromic anemia, Anoperineal fistula, Failure to thrive, Increased circulating IgE level, Leuk...	OMIM:618213
Bile Acid Synthesis Defect, Congenital, 4	Hematochezia, Hepatic failure, Giant cell hepatitis, Intrahepatic cholestasis, Failure to thrive,...	OMIM:214950
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Hematochezia, Inflammation of the large intestine, Recurrent pneu...	OMIM:617718
Nephrotic Syndrome, Type 6	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:614196
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ...	OMIM:187800
Dyskeratosis Congenita, Autosomal Recessive 8	Bone marrow hypocellularity, Inflammation of the large intestine, Reduced natural killer cell cou...	OMIM:620133
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Antineutrophil antibody positivity, Hepatitis, Acute hepatic failure, Hepatosplenomegaly, Pancyto...	ORPHA:228426
Fetal Cytomegalovirus Syndrome	Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Hepatomegaly, T...	ORPHA:294
Alpha-1-Antitrypsin Deficiency	Hepatic failure, Hepatitis, Cholestasis, Jaundice, Cirrhosis, Perinuclear antineutrophil antibody...	ORPHA:60
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple...	ORPHA:227990
Bone Marrow Failure Syndrome 2	Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia	OMIM:615715
Drug Reaction With Eosinophilia And Systemic Symptoms	Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Renal ...	ORPHA:139402
Amegakaryocytic Thrombocytopenia, Congenital, 1	Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia	OMIM:604498
Myasthenia Gravis	Rheumatoid arthritis, Glycosuria, Hepatitis, Systemic lupus erythematosus, Anti-acetylcholine rec...	ORPHA:589
Pyoderma Gangrenosum	Inflammation of the large intestine, Rheumatoid arthritis, Increased circulating antibody level, ...	ORPHA:48104
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke...	OMIM:619041
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Primary Biliary Cholangitis	Elevated gamma-glutamyltransferase level, Elevated circulating alkaline phosphatase concentration...	ORPHA:186
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Abnormal hemoglobin, Thrombocytopenia	ORPHA:3319
Combined Immunodeficiency, X-Linked	Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-po...	OMIM:312863
Ebola Hemorrhagic Fever	Acute pancreatitis, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Hepatitis, Lymphopenia, Leuk...	ORPHA:319218
Meckel Diverticulum	Meckel diverticulum	OMIM:155140
Lipodystrophy, Partial, Acquired, Susceptibility To	Hepatic steatosis, Proteinuria, Hematuria, Membranoproliferative glomerulonephritis, Nephrotic sy...	OMIM:608709
Hepatoportal Sclerosis	Anticardiolipin IgG antibody positivity, Nodular regenerative hyperplasia of liver, Periportal fi...	ORPHA:64743
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating IgG level, Crohn's disease, Agammaglobulinemia, Absent circulating B cells,...	OMIM:619705
Ciliary Dyskinesia, Primary, 21	Recurrent pneumonia, Bronchiectasis, Atelectasis	OMIM:615294
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia	OMIM:205950
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega...	OMIM:237800
Aicardi-Goutieres Syndrome 3	Hepatosplenomegaly, Elevated circulating hepatic transaminase concentration, Chilblains, Thromboc...	OMIM:610329
Sepsis In Premature Infants	Vomiting, Diarrhea, Increased circulating interleukin 6 concentration, Decreased liver function, ...	ORPHA:90051
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Thymoma	Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Systemic lupus erythemato...	ORPHA:99867
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia	OMIM:233650
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Recurrent pneumonia, Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegaly, Abscess...	OMIM:150550
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Decreased acid sphingomyelinase activity, Thr...	OMIM:607616
Acute Interstitial Pneumonia	Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Ground-gl...	ORPHA:79126
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Cholesteryl Ester Storage Disease	Hepatic failure, Diarrhea, Nausea and vomiting, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hy...	ORPHA:75234
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Recurrent bronchitis, Atelectasis	OMIM:300455
Trichohepatoenteric Syndrome 1	Cholestasis, Cirrhosis, Hepatomegaly, Jaundice, Villous atrophy, Small for gestational age, Abnor...	OMIM:222470
Blood Group, Cromer System	Protein-losing enteropathy	OMIM:613793
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Linear Iga Dermatosis	Inflammation of the large intestine	ORPHA:46488
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Esophagitis, Eosinophilic, 2	Vomiting, Failure to thrive, Esophagitis, Eosinophilia, Dysphagia	OMIM:613412
Esophagitis, Eosinophilic, 1	Vomiting, Failure to thrive, Esophagitis, Eosinophilia, Dysphagia	OMIM:610247
Junctional Epidermolysis Bullosa Inversa	Gastrointestinal inflammation	ORPHA:79405
Trimethylaminuria	Recurrent pneumonia, Splenomegaly, Trimethylaminuria, Neutropenia, Anemia	OMIM:602079
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Recurrent respiratory infections, Bronchiectasis, Atelectasis	OMIM:619466
Immunodeficiency 56	Hepatic failure, Recurrent pneumonia, Failure to thrive, Panhypogammaglobulinemia, Recurrent otit...	OMIM:615207
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Acute hepat...	ORPHA:131
T-Cell Immunodeficiency With Thymic Aplasia	Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Diarrhea, Eczematoid dermat...	ORPHA:83471
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2	Enterocolitis	OMIM:620425
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia	OMIM:619523
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia	OMIM:620534
Galactose Epimerase Deficiency	Splenomegaly, Weight loss, Hepatomegaly, Jaundice, Growth delay	ORPHA:79238
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Hepatic failure, Diarrhea, Elevated circulating hepatic transaminase co...	OMIM:235555
Congenital Atransferrinemia	Anemia, Abnormality of the pancreas, Arthritis	ORPHA:1195
Immunodeficiency, Common Variable, 3	Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ...	OMIM:613493
Adult-Onset Still Disease	Weight loss, Neutrophilia, Hepatomegaly, Elevated circulating C-reactive protein concentration, A...	ORPHA:829
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Abnormality of the liver, Thrombocytopenia	ORPHA:1980
Immunodeficiency 112	Decreased circulating IgG level, Reduced natural killer cell count, Chronic mucocutaneous candidi...	OMIM:620449
Immunodeficiency 44	Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati...	OMIM:616636
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Abnormal T cell count, Decreased lymphocyte proliferation in res...	ORPHA:331206
Wolman Disease	Reduced lysosomal acid lipase activity, Vomiting, Failure to thrive, Acute hepatic failure, Splen...	OMIM:620151
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis	OMIM:607624
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib...	OMIM:202700
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple...	ORPHA:227982
Immunodeficiency 62	Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced isohemagglutinin...	OMIM:618459
Primary Sclerosing Cholangitis	Acute hepatic failure, Cholestasis, Hepatosplenomegaly, Abnormal biliary tract morphology, Weight...	ORPHA:171
Follicular Lymphoma	Lymphoma, Splenomegaly, Lymphadenopathy, Abnormal peritoneum morphology, Mediastinal lymphadenopathy	ORPHA:545
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
Spina Bifida-Hypospadias Syndrome	Spinal dysraphism, Spina bifida	ORPHA:3176
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly, Kaposi's sarcoma	OMIM:615593
Dyskeratosis Congenita, Autosomal Dominant 1	Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Oral leukoplakia...	OMIM:127550
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Lymphadeni...	OMIM:618986
Nephronophthisis	Anemia, Renal insufficiency	ORPHA:655
Congenital Disorder Of Glycosylation, Type Ia	Hypoalbuminemia, Decreased circulating IgG level, Hepatic fibrosis, Diarrhea, Vomiting, Failure t...	OMIM:212065
Burkitt Lymphoma	Abnormal lymph node morphology, Abnormality of the ovary, Abnormality of the spleen, Neoplasm of ...	ORPHA:543
Pgm3-Cdg	Allergic rhinitis, Abnormal CD4:CD8 ratio, Lymphopenia, Esophagitis, Decreased proportion of CD4-...	ORPHA:443811
Portal Hypertension, Noncirrhotic, 1	Elevated circulating hepatic transaminase concentration, Portal hypertension, Splenomegaly, Hepat...	OMIM:617068
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Diarrhea, Microangiopathic hemolytic anemia, Unconjugated hyperbilirubinemia, Abdominal pain, Rec...	ORPHA:90038
Bleeding Disorder, Platelet-Type, 19	Anemia, Macrothrombocytopenia, Thrombocytopenia	OMIM:616176
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin rash, Palmoplan...	ORPHA:324964
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Vomiting, Elevated circulating alkaline phosphatase concentration, Elevated circulating creatine ...	OMIM:616809
Wolman Disease	Hepatic failure, Malnutrition, Ascites, Nausea and vomiting, Splenomegaly, Hepatomegaly, Anemia, ...	ORPHA:75233
Radiation Proctitis	Hematochezia, Arteritis, Diarrhea, Tenesmus, Abnormal rectum morphology, Intestinal obstruction, ...	ORPHA:70475
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Agammagl...	OMIM:619707
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Abdominal pain, Recurrent pancreatitis, Splenomegaly, Hyperlipoproteinemia	OMIM:118830
Juvenile Arthritis	Antinuclear antibody positivity, Leukocytosis, Skin rash, Thrombocytosis	OMIM:618795
Transcobalamin Deficiency	Decreased circulating IgG level, Lymphopenia, Pancytopenia, Decreased circulating IgA level, Thro...	ORPHA:859
Galactosemia Iii	Vomiting, Failure to thrive, Splenomegaly, Decreased beta-galactosidase activity, Hepatomegaly, J...	OMIM:230350
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Proteinuria, Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis	OMIM:613913
Systemic Lupus Erythematosus	Discoid lupus rash, Antineutrophil antibody positivity, Anti-La/SS-B antibody positivity, Leukope...	ORPHA:536
Eosinophilopenia	Allergic rhinitis, Decreased eosinophil count, Autoimmunity	OMIM:131430
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin	ORPHA:231249
Papa Syndrome	Crohn's disease, Increased inflammatory response, Myositis, Increased circulating antibody level,...	ORPHA:69126
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Bronchiectasis, Atelectasis	OMIM:615872
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Pneumonia, Cutaneous anergy, Absent natural killer cells, Failure to thrive, Decreased lymphocyte...	OMIM:600802
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Allergic rhinitis, Failure to thrive, Malnutrition, Exocrine pancreatic insufficiency, Skin rash,...	OMIM:612714
Acute Erythroid Leukemia	Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, E...	ORPHA:318
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos...	OMIM:615631
Neutropenia, Chronic Familial	Neutropenia, Increased circulating antibody level	OMIM:162700
Congenital Disorder Of Glycosylation, Type Id	Bifid uvula, Vomiting, Diarrhea, Failure to thrive, Villous atrophy, High palate	OMIM:601110
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Hepatomegaly, Anemia, Jaundice	OMIM:613977
Igg4-Related Retroperitoneal Fibrosis	Rheumatoid arthritis, Systemic lupus erythematosus, Psoriasiform dermatitis, Hematuria, Deep derm...	ORPHA:49041
Pediatric Systemic Lupus Erythematosus	Microangiopathic hemolytic anemia, Systemic lupus erythematosus, Lymphopenia, Dark urine, Hematur...	ORPHA:93552
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Aicardi-Goutieres Syndrome 6	Chilblains, Splenomegaly, Thrombocytopenia, Hepatomegaly, Hemolytic anemia	OMIM:615010
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Eczematoid dermatitis, Thrombocytopenia	OMIM:614493
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia	Allergic rhinitis, Eosinophilic microabscess formation in the esophagus, Esophagitis, Lactose int...	ORPHA:411696
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati...	OMIM:619632
Acute Myelomonocytic Leukemia	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	ORPHA:517
Coproporphyria, Hereditary	Vomiting, Diarrhea, Increased fecal coproporphyrin 3, Splenomegaly, Increased fecal coproporphyri...	OMIM:121300
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Hypochromic anemia, Abnormal circulating lactate dehydrogenase concentration, Anemia of inadequat...	ORPHA:67044
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Vomiting, Diarrhea, Failure to thrive, Decreased cir...	ORPHA:71212
Immunodeficiency 102	Nodular regenerative hyperplasia of liver, Reduced natural killer cell count, Verrucae, Increased...	OMIM:301082
Neonatal Lupus Erythematosus	Hepatic failure, Elevated circulating hepatic transaminase concentration, Aplastic anemia, Pancyt...	ORPHA:398124
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol...	ORPHA:766
Felty Syndrome	Bone marrow hypocellularity, Recurrent pneumonia, Recurrent urinary tract infections, Abnormal ly...	ORPHA:47612
Iga Pemphigus	Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Eosinophilia, Increased circul...	ORPHA:555905
Drug-Induced Lupus Erythematosus	Malar rash, Hematuria, Lupus anticoagulant, Antinuclear antibody positivity, Thrombocytopenia, An...	ORPHA:231111
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Atopic dermatitis, Gastroesophageal reflux, Increased circulating IgE level, Eosinophilic infiltr...	OMIM:620532
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl...	ORPHA:2585
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Recurrent pneumonia, Autoimmune hemolytic anemia, Recurrent sinusitis, Thromb...	OMIM:616576
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Erythroid hyperplasi...	OMIM:616860
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia	OMIM:166990
Diffuse Alveolar Hemorrhage	Antineutrophil antibody positivity, Autoimmunity, Leukocytosis, Hematuria, Proteinuria, Antiphosp...	ORPHA:90060
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmunity, Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in...	ORPHA:231154
Gray Platelet Syndrome	Abnormality of thrombocytes, Splenomegaly, Thrombocytopenia	ORPHA:721
Caroli Disease	Elevated gamma-glutamyltransferase level, Cholestasis, Elevated circulating alkaline phosphatase ...	ORPHA:53035
Lactase Deficiency, Congenital	Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level	OMIM:223000
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Lymphopenia, Intestinal lymphangiectasia	OMIM:152800
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Bone marrow hypocellularity, Enterocolitis, Failure to thrive, Decreased pineal volume	OMIM:301108
Autoinflammation With Arthritis And Dyskeratosis	Laryngeal papilloma, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Increased circ...	OMIM:617388
Malaria	Anemia, Acute kidney injury, Thrombocytopenia	ORPHA:673
Wiskott-Aldrich Syndrome	Inflammation of the large intestine, Diarrhea, Increased circulating IgE level, Abnormal delayed ...	OMIM:301000
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Lymphopenia, Leukopenia, Splenomegaly, Hepatomegaly, Decreased c...	OMIM:620210
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Chronic kidney disease, Glomerulonephritis	ORPHA:2172
Cholestasis-Lymphedema Syndrome	Elevated circulating hepatic transaminase concentration, Erysipelas, Malabsorption, Hyperlipidemi...	OMIM:214900
Tularemia	Pneumonia, Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal ad...	ORPHA:3392
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hepatic failure, Reduced natural killer cell count, Abnormal circulating interleukin concentratio...	ORPHA:158057
Cholestasis, Progressive Familial Intrahepatic, 1	Cholelithiasis, Diarrhea, Failure to thrive, Splenomegaly, Cirrhosis, Conjugated hyperbilirubinem...	OMIM:211600
Sweet Syndrome	Inflammation of the large intestine, Abnormal circulating interleukin concentration, Increased ci...	ORPHA:3243
Membranoproliferative Glomerulonephritis, X-Linked	Membranoproliferative glomerulonephritis	OMIM:305800
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur...	ORPHA:35078
Proprotein Convertase 1/3 Deficiency	Villous atrophy, Obesity, Diarrhea, Malabsorption	OMIM:600955
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega...	ORPHA:98848
Asbestos Intoxication	Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Ground-g...	ORPHA:2302
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice, Reduced...	OMIM:224100
Immunodeficiency 32A	Lymphadenitis, Granuloma, Lymphadenopathy	OMIM:614893
Porphyria Cutanea Tarda	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation...	ORPHA:101330
Thrombocythemia 1	Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce...	OMIM:187950
Schimke Immuno-Osseous Dysplasia	Nephropathy, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Bone marrow h...	ORPHA:1830
Leishmaniasis	Elevated circulating hepatic transaminase concentration, Pancytopenia, Leukopenia, Splenomegaly, ...	ORPHA:507
Granulomatous Disease, Chronic, Autosomal Recessive, 3	Perioral eczema, Diarrhea, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent sinusiti...	OMIM:613960
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:610539
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Recurrent pneumonia, Increased circulating lactate dehydrogenase concentration, Eczematoid dermat...	OMIM:617780
Systemic Mastocytosis With Associated Hematologic Neoplasm	Diarrhea, Chronic lymphatic leukemia, Acute myeloid leukemia, Weight loss, Neutrophilia, Hepatome...	ORPHA:98849
Selective Igm Deficiency	Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-positive T ce...	ORPHA:331235
C1Q Deficiency 2	Discoid lupus rash, Recurrent otitis media, Malar rash, Chilblains, Anti-Sm antibody positivity, ...	OMIM:620321
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Decreased circulating IgG level, Cutaneous abscess, Increased circulating IgE level, Decreased pr...	OMIM:618944
Sézary Syndrome	Neoplasm of the skin, Lymphoma, Abnormal lymphocyte morphology, Splenomegaly, Abnormal immunoglob...	ORPHA:3162
Cystic Echinococcosis	Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Peritoneal abscess, Elevated...	ORPHA:400
Bone Marrow Failure Syndrome 4	Bone marrow hypocellularity, Eczematoid dermatitis, Leukopenia, Thrombocytopenia, Anemia	OMIM:618116
Thyrocerebrorenal Syndrome	Nephritis, Renal insufficiency, Thrombocytopenia	ORPHA:3327
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Hepatosplenomegaly, Thrombocytosis, Feeding difficulties in...	ORPHA:3260
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Thrombotic Thrombocytopenic Purpura	Acute kidney injury, Microangiopathic hemolytic anemia, Abnormal circulating lactate dehydrogenas...	ORPHA:54057
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Diarrhea, Failure to thrive, Hepatocellular necrosis, Hepatosple...	OMIM:618278
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Galloway-Mowat Syndrome 2, X-Linked	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:301006
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi...	OMIM:615206
Zygomycosis	Diarrhea, Ileitis, Pustule, Acute infectious pneumonia, Neutropenia, Abdominal pain, Endocarditis...	ORPHA:73263
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati...	OMIM:616828
Nk-Cell Enteropathy	Hematochezia, Colonic diverticula, Diarrhea, Gastroesophageal reflux, Stercoral ulcer, Abnormal g...	ORPHA:263665
Congenital Toxoplasmosis	Elevated circulating hepatic transaminase concentration, Hepatomegaly, Lymphadenopathy, Thrombocy...	ORPHA:858
Legionnaires Disease	Bone marrow hypocellularity, Diarrhea, Hepatitis, Lymphopenia, Nausea and vomiting, Splenomegaly,...	ORPHA:549
Immunodeficiency 7	Recurrent otitis media, Hypereosinophilia, Autoimmunity, Splenomegaly, Autoimmune hemolytic anemi...	OMIM:615387
Myh9-Related Disease	Nephropathy, Nephritis, Elevated circulating hepatic transaminase concentration, Giant platelets,...	ORPHA:182050
Progressive Familial Intrahepatic Cholestasis	Failure to thrive, Cholestasis, Splenomegaly, Hepatomegaly, Short stature, Jaundice	ORPHA:172
Desmoplastic Small Round Cell Tumor	Ascites, Hepatomegaly, Lymphadenopathy, Testicular neoplasm, Abnormal peritoneum morphology, Anem...	ORPHA:83469
Pauci-Immune Glomerulonephritis	Acute kidney injury, Arteritis, Decreased glomerular filtration rate, Renal insufficiency, Cytopl...	ORPHA:93126
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Gastroesophageal reflux, Hepatitis, Failure to thrive in infancy, Decreased circulating IgA level...	OMIM:613385
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Elevated gamma-glutamyltransferase level, Diarrhea, Acute hepatic failure, Cholestasis, Hepatic s...	OMIM:256810
Fanconi Anemia, Complementation Group G	Leukemia, Anemia, Neutropenia, Thrombocytopenia	OMIM:614082
Immunodeficiency 32B	Pneumonia, Impaired oxidative burst, Splenomegaly, Sinusitis, Eosinophilia, Hepatomegaly, Monocyt...	OMIM:226990
Prolidase Deficiency	Recurrent pneumonia, Eczematoid dermatitis, Systemic lupus erythematosus, Elevated circulating as...	OMIM:170100
Babesiosis	Hepatic failure, Leukopenia, Renal insufficiency, Splenomegaly, Thrombocytopenia, Hepatomegaly, J...	ORPHA:108
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Elevated gamma-glutamyltransferase level, Elevated cir...	OMIM:619463
Mpi-Cdg	Hypoalbuminemia, Protein-losing enteropathy, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Fai...	ORPHA:79319
Familial Cold Autoinflammatory Syndrome 2	Recurrent aphthous stomatitis, Leukocytosis, Skin rash, Splenomegaly, Lymphadenopathy, Arthritis,...	OMIM:611762
Agammaglobulinemia, X-Linked	Recurrent otitis media, Lymph node hypoplasia, Prostatitis, Neutropenia, Epididymitis, Pyoderma, ...	OMIM:300755
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma	ORPHA:882
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Eczematoid dermatitis,...	OMIM:242700
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Genetic Steroid-Resistant Nephrotic Syndrome	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, St...	ORPHA:656
Microvillus Inclusion Disease	Villous atrophy, Abnormal small intestinal villus morphology, Diarrhea, Abdominal distention	ORPHA:2290
Granulomatous Slack Skin	Hodgkin lymphoma, Lymphoma, Abnormal lymph node morphology	ORPHA:33111
Igg4-Related Submandibular Gland Disease	Abnormal salivary gland morphology, Abnormal pancreas morphology, Increased circulating IgE level...	ORPHA:449432
Primary Myelofibrosis	Increased circulating lactate dehydrogenase concentration, Extramedullary hematopoiesis, Hepatosp...	ORPHA:824
Cryoglobulinemic Vasculitis	Abnormality of the liver, Renal insufficiency, Splenomegaly, Hematuria, Proteinuria, Glomerulopat...	ORPHA:91138
Immunodeficiency 17	Abnormal B cell morphology, Anoperineal fistula, Eczematoid dermatitis, Failure to thrive, Chroni...	OMIM:615607
Congenital Disorder Of Glycosylation, Type Iij	Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Recu...	OMIM:613489
Immunodeficiency, Common Variable, 14	Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve...	OMIM:617765
Glycogen Storage Disease Ib	Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Red...	OMIM:232220
Immunodeficiency 54	Reduced natural killer cell count, Failure to thrive, Postnatal growth retardation, Intrauterine ...	OMIM:609981
Multiple Acyl-Coa Dehydrogenase Deficiency	Acute pancreatitis, Elevated circulating acylcarnitine concentration, Vomiting, Decreased circula...	ORPHA:26791
Spondyloenchondrodysplasia	Chronic kidney disease, Pneumonia, Granuloma, Hepatitis, Systemic lupus erythematosus, Anti-dsDNA...	ORPHA:1855
Igg4-Related Kidney Disease	Chronic kidney disease, Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Urethriti...	ORPHA:449395
Aspergillosis	Pneumonia, Keratitis, Hepatitis, Increased circulating IgE level, Osteomyelitis, Infectious encep...	ORPHA:1163
Familial Mediterranean Fever	Diarrhea, Vomiting, Erysipelas, Leukocytosis, Splenomegaly, Chronic constipation, Crohn's disease...	OMIM:249100
Immunodeficiency 46	Intermittent thrombocytopenia, Neutropenia, Anemia, Conjunctivitis, Chronic oral candidiasis	OMIM:616740
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Abnormality of T cell physiology	OMIM:308220
Amegakaryocytic Thrombocytopenia, Congenital, 2	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia	OMIM:620481
Cold Agglutinin Disease	Abnormal urinary color, Autoimmunity, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic anemia	ORPHA:56425
Brucellosis	Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Hepatome...	ORPHA:1304
Glycogen Storage Disease Vi	Failure to thrive in infancy, Postnatal growth retardation, Hepatomegaly, Increased hepatic glyco...	OMIM:232700
Immune Dysregulation, Autoimmunity, And Autoinflammation	Increased circulating interleukin 8 concentration, Increased circulating interleukin 6 concentrat...	OMIM:620514
Omenn Syndrome	Pneumonia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Erythroderma, Hepatomega...	OMIM:603554
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Bleeding Disorder, Platelet-Type, 24	Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri...	OMIM:619271
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Nausea and vomiting, Splenomegaly, Hyperlipidemia, Portal hypertensi...	ORPHA:1414
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S...	OMIM:612840
Harderoporphyria	Increased fecal harderoporphyrin, Neonatal hyperbilirubinemia, Vomiting, Increased circulating fe...	OMIM:618892
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn...	OMIM:613092
Fetal Parvovirus Syndrome	Anemia, Thrombocytopenia	ORPHA:295
Pfapa Syndrome	Malabsorption, Nausea and vomiting, Splenomegaly, Infectious encephalitis, Weight loss, Lymphaden...	ORPHA:42642
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Forsythe-Wakeling Syndrome

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