Not currently registered for phenotyping at IMPC

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

Gene Summary

RING CCCH (C3H) domains 1
5730557L09Rik,  roquin

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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.

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 Similarity of
Matching phenotypes Source
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmunity, Recurrent otitis media, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, S... ORPHA:444463
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center, Decreased circulating IgG level, Abnormality of the liver OMIM:235550
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Anti-dsDNA antibody positivity, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Gl... OMIM:619375
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Podocyte foot process effacement, Increased CD4:CD8 ratio, Autoimmunity, Nephrotic syndrome, Prot... OMIM:617006
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Hemolytic-uremic syndrome, Acute kidney injury, Proteinuria, Glomerulonephrit... OMIM:615008
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Autoimmune hemolytic anemia, Glomerulonephritis, Lymphopenia, Plasmacytosis OMIM:247800
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Bloody diarrhea, Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia, Ulc... OMIM:619398
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia, Platelet antibody positive OMIM:188030
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Increased circulating ferritin concentration, Recurrent skin infections, Erythema n... OMIM:300635
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Feeding difficulties in infancy, Increased circulating ferritin concentration, Redu... OMIM:616050
Immunodeficiency 64
Decreased circulating IgG level, Hepatosplenomegaly, Increased circulating IgG level, Increased c... OMIM:618534
Immunodeficiency 24
Decreased circulating IgG level, Reduced antigen-specific T cell proliferation, Decreased proport... OMIM:615897
Immunodeficiency 76
Recurrent pneumonia, T lymphocytopenia, Colitis, Splenomegaly, Chronic diarrhea, B lymphocytopeni... OMIM:619164
Hepatocellular Carcinoma
Subacute progressive viral hepatitis, Micronodular cirrhosis, 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
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmunity, Recurrent otitis media, Autoimmune hemolytic anemia, Membranous nephropathy, Recurr... OMIM:615559
Systemic Lupus Erythematosus
Lupus nephritis, Leukopenia, Antiphospholipid antibody positivity, Systemic lupus erythematosus, ... OMIM:152700
C1Q Deficiency
Membranoproliferative glomerulonephritis, Autoimmunity, Systemic lupus erythematosus OMIM:613652
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Facial papilloma, Increased circulating IgG level, Increased circulating IgM level, Autoimmune he... OMIM:619220
Immunodeficiency 72 With Autoinflammation
Hepatosplenomegaly, Increased circulating IgG level, Increased proportion of memory T cells, Lymp... OMIM:618982
Cirrhosis, Familial
Cirrhosis, Hepatitis, Chronic active hepatitis OMIM:118900
Complement Component C1S Deficiency
Hashimoto thyroiditis, Hepatitis, Systemic lupus erythematosus OMIM:613783
Immunodeficiency 18
Recurrent otitis media, Decreased proportion of CD3-positive T cells, Recurrent gastroenteritis, ... OMIM:615615
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hepatosplenomegaly, Hemophagocytosis, Colitis, Sple... OMIM:613101
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Crohn's disease, Mucoid diarrhea, Inflammation of the large inte... OMIM:615767
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Decreased circulating IgE, Increased circulating IgM level, Abse... OMIM:606843
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Decreased circulating antibody level, Lymphoproliferative disorder, Hodgkin l... OMIM:618261
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Cholangitis, Agammaglobulinemia, Infectious encephalitis, Colitis, Protracted di... OMIM:209920
Immunodeficiency 70
Decreased circulating total IgM, Achalasia, Colitis, Decreased circulating total IgG, Decreased p... OMIM:618969
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Immunodeficiency 37
Colitis, Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circu... OMIM:616098
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, T lymphocytopenia, Decreased proportion of memory B cells, Decre... OMIM:619510
Complement Component 3 Deficiency, Autosomal Recessive
Membranoproliferative glomerulonephritis, Nephrotic syndrome, Systemic lupus erythematosus, Renal... OMIM:613779
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, Cervical lymphadenopathy, Abnor... OMIM:618987
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Recurrent pneumonia, Decreased circulating IgG level, Leukocytos... 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
Pancytopenia, Splenomegaly, Cutaneous anergy, Decreased helper T cell proportion, Hypersplenism OMIM:183350
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Immunodeficiency 31C
Autoimmune hemolytic anemia, Eczema, Abnormal intestine morphology, Villous atrophy, Lymphopenia,... OMIM:614162
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent otitis media, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Increased circul... OMIM:618495
Immunodeficiency 14A, Autosomal Dominant
T lymphocytopenia, Decreased specific pneumococcal antibody level, Increased circulating IgM leve... OMIM:615513
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Refractory Celiac Disease
Microcytic anemia, Iron deficiency anemia, Villous atrophy, Inflammatory abnormality of the skin,... ORPHA:398063
Immunodeficiency 57 With Autoinflammation
T lymphocytopenia, Decreased circulating antibody level, Bronchiectasis, Inflammation of the larg... OMIM:618108
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Increased circulating IgG level, Increased circulating IgM level, Coombs-positive h... OMIM:601859
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Decreased basophil count, Crohn's disease, Decreased proportion of memory B cells, ... OMIM:618394
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Microcytic anemia, Sterile abscess, Sterile arthritis, Hepatosplenomegaly, Thromboc... OMIM:604416
Diarrhea 5, With Tufting Enteropathy, Congenital
Intractable diarrhea, Small for gestational age, Failure to thrive, Villous atrophy, Arthritis OMIM:613217
Kimura Disease
Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy, Increa... ORPHA:482
Inflammatory Bowel Disease 28, Autosomal Recessive
Hematochezia, Crohn's disease, Pyoderma, Colitis, Enterocolitis, Perianal abscess, Folliculitis OMIM:613148
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Increased circulating IgM level, Decreased circulating IgA level... OMIM:608106
Trichohepatoenteric Syndrome 2
Small for gestational age, Decreased serum iron, Colitis, Hepatomegaly, Failure to thrive, Hepati... OMIM:614602
X-Linked Lymphoproliferative Disease
Pancytopenia, Decreased circulating IgG level, Hepatic failure, Absent natural killer cells, Hist... ORPHA:2442
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy, Esophageal carcinoma ORPHA:99977
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Decreased circulating IgG level, Recurrent otitis media, Uveitis, Chronic neutropen... OMIM:614700
Primary Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Decreased circulating IgG level, Decreased proportion of CD3-positiv... ORPHA:90362
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Lymphoma, Autoimmune thrombocytopenia, Splenomegaly, Hepatom... OMIM:614470
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice OMIM:312500
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Lymphadenopathy, Impaired Ig cl... OMIM:605258
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased T cell activation, Lymphoma, Decreased CD69 upregulation upon TCR activation, Decreased... OMIM:300853
Diamond-Blackfan Anemia-Like
Pure red cell aplasia, Steroid-responsive anemia OMIM:617911
Caspase 8 Deficiency
Decreased T cell activation, Decreased circulating total IgM, Decreased circulating IgG level, De... OMIM:607271
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Glomerulonephritis, ... OMIM:304790
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypercholesterolemia, Failure to thrive, Protein-losing enteropathy, Villous atro... OMIM:615863
Immunodeficiency, Common Variable, 6
Enlarged kidney, Mesangial Immune complex deposition, Hydronephrosis, Autoimmune thrombocytopenia... OMIM:613496
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Glomerulonephritis, Thrombocytopenia, Hematuria OMIM:314000
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Lymphoproliferative disorder, Erythroid hypoplasia OMIM:242880
Tn Polyagglutination Syndrome
Autoimmunity, Abnormal erythrocyte morphology OMIM:300622
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy, B-cell lymphoma ORPHA:52416
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Masp2 Deficiency
Ulcerative colitis, Recurrent pneumonia OMIM:613791
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Failure to thrive in infancy, Autoimmune hemolytic anemia, Villous atrophy, Decreased specific an... OMIM:606367
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Ileal ulcer, Colitis, Thrombocytopenia, Hemolytic anemia, Anterior uveitis, Lymphopenia, Skin rash OMIM:616744
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Mesangial hypercellularity, Proteinuria, Steroid-resistant neph... OMIM:619201
Immunodeficiency 75
Hepatosplenomegaly, Lymphoma, Follicular hyperplasia, Lymphadenopathy, Decreased proportion of cl... OMIM:619126
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis ORPHA:60026
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Splenomegaly, Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Inflammatory Bowel Disease (Crohn Disease) 1
Crohn's disease, Recurrent aphthous stomatitis, Inflammation of the large intestine, Abdominal pa... OMIM:266600
Congenital Disorder Of Glycosylation, Type Ib
Hepatic failure, Lymphangiectasis, Hepatomegaly, Failure to thrive, Villous atrophy, Protein-losi... OMIM:602579
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Lymphocytosis, Chronic mucocutaneous candidiasis, Skin rash, Abnorma... ORPHA:911
Secondary Short Bowel Syndrome
Small intestinal dysmotility, Weight loss, Cholestasis, Constipation, Abnormal blood ion concentr... ORPHA:95427
Nephrotic Syndrome, Type 10
Podocyte foot process effacement, Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-... OMIM:615861
Macrophage Activation Syndrome
Autoimmunity, Increased circulating lactate dehydrogenase concentration, Elevated circulating ala... ORPHA:158061
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Agammaglobulinemia, Interface hepatitis, Autoimmune hemolytic anemia, Intestinal atresia, Hypopla... OMIM:243150
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Nephrotic syndrome, Glomerular deposits, Renal insufficiency ORPHA:69063
Halothane Hepatitis
Viral hepatitis, Hepatitis, Jaundice OMIM:234350
Alpha-Heavy Chain Disease
Dysgammaglobulinemia, Hypocalcemia, Splenomegaly, Abnormality of the small intestine, Hepatomegal... ORPHA:100025
Immunodeficiency 27A
Hepatosplenomegaly, Increased circulating IgG level, Histiocytosis, Increased circulating IgM lev... OMIM:209950
Diarrhea 9
Failure to thrive, Diarrhea, Villous atrophy OMIM:618168
Cyanosis And Hepatic Disease
Hepatitis OMIM:219400
Reticular Dysgenesis
Leukopenia, Lack of T cell function, Congenital agranulocytosis, Impaired T cell function, Hypopl... OMIM:267500
Diarrhea 12, With Microvillus Atrophy
Microvillar PAS-positive secretory granules, Microvillus inclusions, Bronchiectasis, Dependency o... OMIM:619445
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Crohn's disease, Decreased circulating total IgM, Arthritis, Aut... OMIM:616100
Mast Cell Sarcoma
Mastocytosis, Sarcoma, Splenomegaly, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:66661
Autoimmune Hepatitis
Viral hepatitis, Sclerosing cholangitis, Cirrhosis, Anti-liver cytosolic antigen type 1 antibody ... ORPHA:2137
Autoimmune Lymphoproliferative Syndrome, Type Iia
Rheumatoid factor positive, Autoimmune hemolytic anemia, Iron deficiency anemia, Malar rash, Elev... OMIM:603909
Pseudomyxoma Peritonei
Constipation, Inflammation of the large intestine, Nausea and vomiting, Abdominal pain, Abnormali... ORPHA:26790
Immunodeficiency 104
T lymphocytopenia, Pneumonia, Splenomegaly, Hepatomegaly, Eczema, Otitis media, Lymphadenopathy, ... OMIM:608971
Immunodeficiency 48
Pneumonia, Splenomegaly, Hepatomegaly, Failure to thrive, Eczematoid dermatitis, Panhypogammaglob... OMIM:269840
Erythroleukemia, Familial, Susceptibility To
Leukemia, Acute myeloid leukemia, Splenomegaly, Hepatomegaly, Anemia, Erythroid hyperplasia, Thro... OMIM:133180
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Protracted diarrhea, Malnutrition, Abnormal intestine morphology, Villous atrophy OMIM:251850
Cutaneous Photosensitivity And Colitis, Lethal
Colitis, Diarrhea OMIM:219095
Diarrhea 8, Secretory Sodium, Congenital
Elevated fecal sodium, Secretory diarrhea, Abdominal distention, Inflammation of the large intestine OMIM:616868
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, T lymphocytopenia, Hepatosplenomegaly, Increased circulating IgG level, Decreased p... ORPHA:169154
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Cardiomegaly, Obesity, Hypoalbuminemia ORPHA:88643
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Eosinophilia, Recurrent pneumonia, Decreased circulating IgG level, Pneumonia, Decreased proporti... ORPHA:169160
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ... OMIM:616452
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Leukemia, Lymphoma, Impaired lymphocyte transformation w... OMIM:153600
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Recurrent pneumonia, Decreased circulati... OMIM:613502
Familial Hemophagocytic Lymphohistiocytosis
Abnormality of tumor necrosis factor secretion, Maculopapular exanthema, Anemia, Increased serum ... ORPHA:540
Alpha-1-Antitrypsin Deficiency
Hepatic failure, Hepatitis, Hepatomegaly, Jaundice ORPHA:60
Immunodeficiency 82 With Systemic Inflammation
Recurrent otitis media, Decreased circulating total IgG, Anemia, Hepatitis, Villous atrophy, Diar... OMIM:619381
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Focal Segmental Glomerulosclerosis 10
Proteinuria, Renal insufficiency, Stage 5 chronic kidney disease, Minimal change glomerulonephrit... OMIM:256020
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Hepatomegaly, Increased circulating antibody level, Neutropenia, Anemia... OMIM:615285
Complement Component 4A Deficiency
Glomerulonephritis, Systemic lupus erythematosus OMIM:614380
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Lymphoma, Splenomegaly, Decreased circulating IgA level, Neoplas... OMIM:240500
Cernunnos-Xlf Deficiency
Autoimmunity, T lymphocytopenia, Thrombocytopenia, Anemia, B lymphocytopenia, Lymphopenia ORPHA:169079
5-Oxoprolinase Deficiency
Reduced 5-oxoprolinase level, Abdominal pain, Enterocolitis, Diarrhea, Vomiting OMIM:260005
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia OMIM:269600
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Acute kidney injury, Abnormal glomerular mesangium morphology, Proteinuria, G... ORPHA:567544
Netherton Syndrome
Decreased circulating IgG level, Hypereosinophilia, Erythroderma, Allergic rhinitis, Failure to t... OMIM:256500
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatic steatosis, Hepatic failure, Portal hypertension, Hyperlipidemia, Small fo... ORPHA:567983
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Decreased circulatin... OMIM:617514
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
Inflammatory Bowel Disease (Crohn Disease) 30
Bloody diarrhea, Vomiting, Chronic diarrhea, Pancolitis, Abdominal pain, Abnormal intestine morph... OMIM:619079
Autoinflammation With Episodic Fever And Lymphadenopathy
Microcytic anemia, Rheumatoid factor positive, Splenomegaly, Hepatomegaly, Recurrent tonsillitis,... OMIM:618852
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Decreased circulating IgG level, Colitis, Inflammation of the large intestine, Eczema, Neutropeni... OMIM:608809
Complement Component 4B Deficiency
Recurrent otitis media, Recurrent pneumonia, Chronic diarrhea, Recurrent sinusitis, Chronic activ... OMIM:614379
Inflammatory Skin And Bowel Disease, Neonatal, 1
Bloody diarrhea, Blepharitis, Erythroderma, Failure to thrive, Pustule, Villous atrophy, Increase... OMIM:614328
Tubulointerstitial Nephritis With Uveitis
Acute tubulointerstitial nephritis, Uveitis, Glomerulonephritis, Non-caseating epithelioid cell g... OMIM:607665
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Crohn's disease, Acute pancreatitis, Lymphadenitis, Hepatosplenomegaly, Sple... OMIM:618935
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Decreased circulating IgG level, Reduced natural killer cell activity, Increased ci... OMIM:308240
Bile Acid Synthesis Defect, Congenital, 3
Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Failure to thriv... OMIM:613812
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Failure to thrive in infancy, Autoimmune hemolytic anemia, Iron deficiency anemia, Membranous nep... ORPHA:37042
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Sideroblastic anemia, Hepatosplenomegaly, Pyridoxine-responsive sideroblastic anemia, Decreased m... OMIM:206000
Lymphoma, Hodgkin, Classic
Hodgkin lymphoma, Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemag... OMIM:236000
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Mu-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Increased circulating antibody level, Anemia, Abnormal B cell count, ... ORPHA:100024
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgG level, Abnormality of the thymus, Decr... OMIM:611926
Dyskeratosis Congenita, Autosomal Recessive 5
Leukopenia, Bone marrow hypocellularity, Colitis, Decreased circulating antibody level, Esophagea... OMIM:615190
Atypical Hemolytic Uremic Syndrome
Hematuria, Proteinuria, Acute kidney injury, Abnormal lactate dehydrogenase level, Microangiopath... ORPHA:2134
Gastroesophageal Reflux
Esophagitis, Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux OMIM:109350
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Anemia, Abnormality of the liver, Hypochromia OMIM:206100
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased circulating IgG level, Increased circulating IgG level, Decreased proportion of CD3-pos... ORPHA:276
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Decreased circulating total IgM, Decreased circulating IgA level... OMIM:607594
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Decreased nasal nitric oxide, Ciliary dyskinesia, Atelectasis, Bronchiectasi... OMIM:615294
C3 Glomerulopathy 3
Stage 5 chronic kidney disease, Glomerulonephritis, Hematuria, Renal insufficiency OMIM:614809
Thrombocytopenia 4
Thrombocytopenia OMIM:612004
Bile Acid Synthesis Defect, Congenital, 1
Fat malabsorption, Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Giant cell hepatitis, F... OMIM:607765
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Lymphopenia, Abnormal T cell morphology, Decreased circulating I... OMIM:247630
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Feeding difficulties in infancy, Hepatic steatosis, Hepatic failure, Portal hypertension, Peripor... OMIM:251880
Congenital Tufting Enteropathy
Punctate keratitis, Abnormal large intestinal mucosa morphology, Weight loss, Abnormal small inte... ORPHA:92050
Inflammatory Bowel Disease 25, Autosomal Recessive
Rectovaginal fistula, Pancolitis, Enterocutaneous fistula, Enterocolitis, Perianal abscess, Folli... OMIM:612567
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Anemia, Lymphadenopathy, Thr... OMIM:603552
Amoebiasis Due To Entamoeba Histolytica
Constrictive pericarditis, Bloody diarrhea, Weight loss, Leukocytosis, Lung abscess, Gastrointest... ORPHA:67
C3 Glomerulopathy
Autoimmunity, Glomerular extracapillary hypercellularity, Nephrotic syndrome, Hematuria, Mesangia... ORPHA:329918
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy OMIM:212050
Kerion Celsi
Recurrent cutaneous abscess formation, Lymphadenopathy ORPHA:499
Mucus Inspissation Of Respiratory Tract
Atelectasis, Chronic sinusitis, Chronic pulmonary obstruction, Bronchiectasis OMIM:253240
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilia, Hepatosplenomegaly, Eosinophilic liver infiltration, Colonic eosinophilia, Membrano... OMIM:618999
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Agammaglobulinemia OMIM:200900
Immunodeficiency 91 And Hyperinflammation
Recurrent pneumonia, Increased circulating lactate dehydrogenase concentration, Hepatosplenomegal... OMIM:619644
African Iron Overload
Increased circulating ferritin concentration, Viral hepatitis, Hepatic steatosis, Hepatic bridgin... ORPHA:139507
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Lack of T cell function, Absence of lymph node germinal center, Absent tonsils... ORPHA:277
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Chronic hepatitis, Hepatitis, Thrombocytopenia, Diarrhea, Sclero... OMIM:308230
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Rheumatoid factor positive, Autoimmune antibody positivity, Glomerulonephriti... ORPHA:99931
Isolated Agammaglobulinemia
Sinusitis, Abnormal lymphocyte morphology, Autoimmunity, Pneumonia, Inflammatory abnormality of t... ORPHA:229717
X-Linked Agammaglobulinemia
Agammaglobulinemia, Anemia, Hepatitis, Thrombocytopenia, Conjunctivitis, Skin rash, Recurrent pne... ORPHA:47
Cholelithiasis, Microcytic anemia, Splenomegaly, Hepatomegaly, Anemia, Hepatitis, Abnormal hemogl... ORPHA:848
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Decreased eosinophil count, Peritonitis, Periodontitis, Thr... ORPHA:2686
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Inflammation of the large intestine, Failure to thrive, Lymphadenopathy, Lymphocytosis, Thrombocy... OMIM:617718
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Decreased circulating total IgM, T lymphocytopenia, Decreased ci... OMIM:300400
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatic steatosis, Periportal fibrosis, Gastroesophageal reflux, Decreased plasma carnitine, Hepa... OMIM:201475
Diarrhea 11, Malabsorptive, Congenital
Diarrhea, Villous atrophy OMIM:618662
Immunodeficiency 17
Recurrent otitis media, Autoimmune hemolytic anemia, Eczema, Failure to thrive, Recurrent gastroe... OMIM:615607
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Protracted diarrhea, Autoimmune hemolytic anemia, Decreased proportion of CD4-posit... ORPHA:572
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, ... OMIM:608184
Preeclampsia/Eclampsia 1
Thrombocytopenia, Elevated hepatic transaminase, Proteinuria OMIM:189800
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Autosomal Agammaglobulinemia
Sinusitis, High palate, Recurrent skin infections, Arthritis, Agammaglobulinemia, Bronchiectasis,... ORPHA:33110
Epidermolysis Bullosa Acquisita
Abdominal pain, Inflammation of the large intestine ORPHA:46487
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Splenomegaly, Hepatomegaly, Jaundice, Failure to thrive, Malabsorpti... ORPHA:79301
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly, Hepatomegaly ORPHA:46532
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Hypokalemia, Increased serum bile acid concentration, Cholestas... OMIM:619377
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Immunodeficiency 87 And Autoimmunity
Hypokalemia, Hepatic failure, Cholestasis, Elevated gamma-glutamyltransferase level, Autoimmune h... OMIM:619573
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Lethal Congenital Contracture Syndrome 3
Neonatal death, Respiratory insufficiency OMIM:611369
Eosinophilic Gastroenteritis
Hematochezia, Eosinophilia, Abnormality of the gastrointestinal tract, Weight loss, Leukocytosis,... ORPHA:2070
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Autoimmunity, Autoimmune hemolytic anemia, Autoimmune thrombocyto... ORPHA:100026
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Hypocalcemia, Splenomegaly, Hepatomegaly, Jaundice, Failure to thrive, Malabsorption ORPHA:172
Bile Acid Synthesis Defect, Congenital, 4
Fat malabsorption, Hepatic failure, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Intrah... OMIM:214950
Thrombocytopenia, Cyclic
Neutropenia, Cyclic neutropenia, Thrombocytopenia OMIM:188020
Hyperlipoproteinemia, Type Id
Hyperlipoproteinemia, Increased circulating chylomicron concentration, Recurrent pancreatitis, Co... OMIM:615947
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphoma, Breast carcinoma, Splenomegaly, Hepatomegaly, B-cell lymphoma, Lymphadenopathy ORPHA:86893
Nephrotic Syndrome, Type 15
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Nephrotic syndrome, Proteinuria OMIM:617609
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormality of the lymph nodes, Papillary thyroid carcinoma, Colon cancer, Breast carcinoma, Neop... ORPHA:97290
Hirschsprung Disease, Susceptibility To, 1
Abnormality of enteric ganglion morphology, Constipation, Aganglionic megacolon, Abdominal disten... OMIM:142623
Proteasome-Associated Autoinflammatory Syndrome 5
Failure to thrive in infancy, Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Skin rash OMIM:619175
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Exercise-induced hemolysis, Splenomegaly, Hepatomegaly, Hemoglobinuria, Jaundice,... OMIM:194380
Immunodeficiency 25
Eosinophilia, T lymphocytopenia, Increased circulating IgG level, Complete or near-complete absen... OMIM:610163
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Anemia, Leukopenia, Thrombocytopenia OMIM:167850
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia OMIM:124900
Ciliary Dyskinesia, Primary, 29
Atelectasis, Ciliary dyskinesia, Bronchiectasis, Decreased nasal nitric oxide OMIM:615872
Inflammatory Bowel Disease 11
Hematochezia, Abdominal pain, Diarrhea, Inflammation of the large intestine OMIM:191390
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Cholestasis, Patent ductus arteriosus, Elevated gamma-glutamyltransferase level, Sp... OMIM:614576
Hematochezia, Abdominal distention, Enterocolitis, Ulcerative colitis OMIM:226150
Cholestasis-Lymphedema Syndrome
Erysipelas, Hyperlipidemia, Splenomegaly, Hepatomegaly, Jaundice, Conjugated hyperbilirubinemia, ... OMIM:214900
Syndromic Diarrhea
Intractable diarrhea, Bloody diarrhea, Hepatoblastoma, Abnormality of the liver, Cirrhosis, Small... ORPHA:84064
Spastic Paraplegia And Evans Syndrome
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia OMIM:601608
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Hepatic failure, Cholestasis, Hepatocellular necros... OMIM:231100
Immunodeficiency 69
Pancytopenia, Increased circulating ferritin concentration, Hepatosplenomegaly, Leukocytosis, Thr... OMIM:618963
Intestinal perforation, Nausea, Hepatic failure, Uveitis, Failure to thrive in infancy, Cholestas... ORPHA:810
Pfapa Syndrome
Weight loss, Infectious encephalitis, Splenomegaly, Hepatomegaly, Nausea and vomiting, Abdominal ... ORPHA:42642
Autoimmune Lymphoproliferative Syndrome
Decreased circulating IgG level, Uveitis, Autoimmune hemolytic anemia, Decreased proportion of CD... ORPHA:3261
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Hepatosplenomegaly, Abnormal serum interferon-gamma level, Infectious encephalitis, Autoimmune he... ORPHA:391487
Immunodeficiency 92
Decreased circulating IgG level, Sclerosing cholangitis, Pneumonia, Leukocytosis, Cholangitis, Th... OMIM:619652
Immunodeficiency 7
Autoimmunity, Hypereosinophilia, Lymphadenopathy OMIM:615387
Adenocarcinoma Of The Esophagus
Barrett esophagus, Lymphadenopathy, Esophageal carcinoma ORPHA:99976
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia OMIM:233650
Eosinophilia, Familial
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia OMIM:131400
Refractory Anemia
Bone marrow hypocellularity, Normocytic anemia, Neutropenia, Macrocytic anemia, Normochromic anem... ORPHA:98826
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Lymph node hypoplasia, Panhypogammaglobulinemia, Aplasia of the thymus OMIM:602450
Visceral Myopathy 2
Megaduodenum, Hiatus hernia, Intestinal malrotation, Gastroesophageal reflux, Intestinal obstruct... OMIM:619350
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Colitis, Recurrent aphthous stomatitis, Recurrent sinusitis, Perioral eczema, Diarrhea OMIM:613960
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Anemia, Lymphadenopathy ORPHA:158014
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Antinuclear antibody positivity, Arthritis, Crescentic glomerulonephritis, Mesangial hypercellula... OMIM:616414
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Bone marrow hypocellularity, No... ORPHA:75564
Hemoglobin H Disease
Splenomegaly, Hepatomegaly, HbH hemoglobin, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Thrombocytopenia 7
Impaired ADP-induced platelet aggregation, Impaired arachidonic acid-induced platelet aggregation... OMIM:619130
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Lymphoproliferative Syndrome 2
Pancytopenia, Hepatosplenomegaly, Hemophagocytosis, Lymphoma, Splenomegaly, Decreased circulating... OMIM:615122
Q Fever
Rheumatoid factor positive, Antimitochondrial antibody positivity, Maculopapular exanthema, Anemi... ORPHA:781
Griscelli Syndrome
Leukopenia, Bone marrow hypocellularity, Abnormal circulating lipid concentration, Splenomegaly, ... ORPHA:381
Bone Marrow Failure Syndrome 2
Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:615715
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Splenomegaly, Elevated urinary delta-aminolevulinic acid, Jaundice OMIM:206400
Schnitzler Syndrome
Leukocytosis, Increased circulating IgM level, Lymphoma, Splenomegaly, Hepatomegaly, Anemia, Lymp... ORPHA:37748
Graft Versus Host Disease
Nausea, Gastrointestinal inflammation, Chronic hepatitis, Maculopapular exanthema, Hyperbilirubin... ORPHA:39812
Lysosomal Acid Lipase Deficiency
Low alkaline phosphatase, Increased circulating lactate dehydrogenase concentration, Hepatic fail... OMIM:278000
Carcinoid Syndrome
Intestinal carcinoid, Protracted diarrhea, Abnormal B-type natriuretic peptide level, Nausea and ... ORPHA:100093
Myasthenia Gravis
Glycosuria, Myositis, Hashimoto thyroiditis, Abnormality of the thymus, Systemic lupus erythemato... ORPHA:589
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Autoimmunity, Splenomegaly, Hemolytic anemia ORPHA:228312
Diverticulosis, Small-Intestinal
Jejunal diverticula, Rheumatoid arthritis, Thyroiditis, Jejunoileal diverticula, Ulcerative colit... OMIM:223320
Wilson Disease
Hepatic steatosis, Cirrhosis, Splenomegaly, Hepatomegaly, Jaundice, Acute hepatic failure, Anemia... ORPHA:905
Lymphoproliferative Syndrome 1
Pancytopenia, Autoimmunity, Leukopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia,... OMIM:613011
Bronchopulmonary Dysplasia
Abnormal respiratory system physiology, Emphysema, Respiratory failure requiring assisted ventila... ORPHA:70589
Thymic Aplasia
Sinusitis, T lymphocytopenia, Pneumonia, Coombs-positive hemolytic anemia, Decreased proportion o... ORPHA:83471
Pyoderma Gangrenosum
Myositis, Inflammation of the large intestine, Rheumatoid arthritis, Increased circulating antibo... ORPHA:48104
Immunodeficiency 58
Decreased T cell activation, Recurrent pneumonia, Helicobacter pylori infection, Cutaneous absces... OMIM:618131
Congenital Bile Acid Synthesis Defect Type 2
Fat malabsorption, Hepatic failure, Hepatic steatosis, Increased circulating lactate dehydrogenas... ORPHA:79303
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced antigen-specific T cell proliferation, Decreased proportion of CD8-positive T cells, Incr... OMIM:617241
Pearson Marrow-Pancreas Syndrome
Exocrine pancreatic insufficiency, Pancytopenia, Hepatic failure, Hypoplastic anemia, Macronodula... OMIM:557000
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Hepatocellular Carcinoma
Hypokalemia, Anemia, Abdominal distention, Hepatic necrosis, Hyperbilirubinemia, Liver abscess, A... ORPHA:88673
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Bone marrow hypocellularity, Monocytosis, Acute myeloid leukemia, Systemic lupus eryt... OMIM:616871
Amegakaryocytic Thrombocytopenia, Congenital
Pancytopenia, Amegakaryocytic thrombocytopenia, Thrombocytopenia OMIM:604498
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Anemia, Hypochromia OMIM:205950
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Thrombocytopenia ORPHA:3319
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Crohn's disease, Decreased circulating total IgM, Agammaglobulin... OMIM:619705
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Platelet anisocytosis, Giant platelets, Ane... OMIM:187800
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Interlobular bile duct destruction, Sclerosing cholangitis, Increased circulating IgG level, Chol... ORPHA:562639
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating antibody level, Thrombocytopenia, Lymphadenopathy OMIM:618048
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormality of the lymph nodes, Papillary thyroid carcinoma, Colon cancer, Neoplasm of head and n... ORPHA:319487
Autoimmune Polyendocrinopathy Type 4
Autoimmunity, Biliary cirrhosis, Aplasia/Hypoplasia of the spleen, Leukopenia, Macrocytic anemia,... ORPHA:227990
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Pancytopenia, Bone marrow hypocellularity, Acute myeloid leukemia, Neutropenia, Anemia, Increased... OMIM:619041
Cholestasis, Progressive Familial Intrahepatic, 2
Fat malabsorption, Splenomegaly, Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic choles... OMIM:601847
Hepatitis, Fulminant Viral, Susceptibility To
Nausea, Hepatic failure, Hashimoto thyroiditis, Hepatomegaly, Jaundice, Elevated hepatic transami... OMIM:618549
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Pancytopenia, Autoimmunity, Hepatosplenomegaly, Portal hypertension, Cholangitis, Acute hepatic f... ORPHA:228426
Adult-Onset Still Disease
Leukocytosis, Bone marrow hypocellularity, Abnormal circulating lipid concentration, Neutrophilia... ORPHA:829
Boutonneuse Fever
Increased circulating IgG level, Leukopenia, Increased circulating IgM level, Cervical lymphadeno... ORPHA:83313
Autoimmunity, Myositis, Leukemia, Glomerulonephritis, Imbalanced hemoglobin synthesis, Systemic l... ORPHA:99867
Anemia, Sideroblastic, 5
Neutropenia, Anemia, Thrombocytopenia, Reduced hematocrit, Hypochromic microcytic anemia OMIM:619523
Autoimmunity, Acute kidney injury, Proteinuria, Abnormality of the kidney, Chronic kidney disease... ORPHA:275555
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Hepatomegaly, Jaundice, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequat... OMIM:237800
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Portal hypertension, Leukopenia, Periportal fibrosis, Anticar... ORPHA:64743
Junctional Epidermolysis Bullosa Inversa
Gastrointestinal inflammation ORPHA:79405
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Splenomegaly, Recurre... OMIM:150550
Carcinoma Of Esophagus
Esophageal neoplasm, Barrett esophagus, Lymphadenopathy ORPHA:70482
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Asbestos Intoxication
Nonproductive cough, Restrictive ventilatory defect, Ground-glass opacification, Hypoxemia, Late ... ORPHA:2302
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Chronic rhinitis, Cough, Ciliary dyskinesia, Bronchiectasis, Atelectasis OMIM:616726
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia OMIM:613112
Budd-Chiari Syndrome
Portal hypertension, Gastrointestinal hemorrhage, Cirrhosis, Cholecystitis, Peritonitis, Splenome... ORPHA:131
Sepsis In Premature Infants
Increased circulating interleukin 6 concentration, Decreased body weight, Leukocytosis, Small for... ORPHA:90051
Aicardi-Goutieres Syndrome 3
Chilblains, Hepatosplenomegaly, Elevated hepatic transaminase, Thrombocytopenia OMIM:610329
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Bilateral Striopallidodentate Calcinosis
Abnormality of the liver, Thrombocytopenia, Hepatomegaly ORPHA:1980
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Nephrotic syndrome, Infectious encephalitis, Interstitial pneumonitis, Myocarditis,... ORPHA:139402
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Weight loss, Elevated circulating C-reactive protein concentration, Acne, Inflammation of the lar... ORPHA:324964
Recurrent pneumonia, Trimethylaminuria, Splenomegaly, Neutropenia, Anemia OMIM:602079
Esophagitis, Eosinophilic, 2
Eosinophilia, Failure to thrive, Dysphagia, Esophagitis, Vomiting OMIM:613412
Esophagitis, Eosinophilic, 1
Eosinophilia, Failure to thrive, Dysphagia, Esophagitis, Vomiting OMIM:610247
Pediatric Hepatocellular Carcinoma
Elevated alpha-fetoprotein, Hepatomegaly, Abdominal pain, Hepatic necrosis, Hepatic fibrosis, Vom... ORPHA:33402
Omenn Syndrome
Eosinophilia, Pneumonia, Splenomegaly, Hepatomegaly, Severe B lymphocytopenia, Erythroderma, Anem... OMIM:603554
Congenital Atransferrinemia
Anemia, Abnormality of the pancreas, Arthritis ORPHA:1195
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Atelectasis, Abnormal mucociliary clearance, Respiratory distress, Bronchiectasis OMIM:619466
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating total IgM, Decreased circulating IgG level, Transient neutropenia, Agammagl... OMIM:619707
Systemic Lupus Erythematosus 16
Nephritis, Systemic lupus erythematosus OMIM:614420
Ebola Hemorrhagic Fever
Acute pancreatitis, Nausea, Leukopenia, Gastrointestinal hemorrhage, Maculopapular exanthema, Thr... ORPHA:319218
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Reduced antigen-specific T cell proliferation, Decreased circula... ORPHA:331206
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Growth delay, Jaundice, Weight loss ORPHA:79238
Fanconi Anemia, Complementation Group T
Pancytopenia, Anemia, Thrombocytopenia, Bone marrow hypocellularity OMIM:616435
Juvenile Arthritis
Thrombocytosis, Antinuclear antibody positivity, Leukocytosis, Skin rash OMIM:618795
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Intestinal perforation, Increased circulating lactate dehydrogenase concentration, Hypokalemia, E... ORPHA:90038
Acute Interstitial Pneumonia
Pulmonary infiltrates, Reticulonodular pattern on pulmonary HRCT, Nonproductive cough, Ground-gla... ORPHA:79126
Griscelli Syndrome, Type 2
Hepatosplenomegaly, Hemophagocytosis, Reduced delayed hypersensitivity OMIM:607624
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Recurrent otitis media, T lymphocytopenia, Pneumonia, Absent natural killer cells, Abnormality of... OMIM:600802
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Abdominal pain, Hyperlipoproteinemia, Splenomegaly, Recurrent pancreatitis OMIM:118830
Immunodeficiency 16
Kaposi's sarcoma, Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Niemann-Pick Disease, Type B
Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells, Thrombocytopenia, Sea-blue histiocytosis OMIM:607616
Burkitt Lymphoma
Abnormality of the liver, Abnormality of the pancreas, Abnormality of the ovary, Decreased propor... ORPHA:543
Hodgkin Lymphoma
Lymphoma, Splenomegaly, Hepatomegaly, Neoplasm, Lymphadenopathy ORPHA:98293
Cholesteryl Ester Storage Disease
Hepatic failure, Hypercholesterolemia, Splenomegaly, Hepatomegaly, Jaundice, Esophageal varix, Na... ORPHA:75234
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Increased circulating anti... OMIM:202700
Felty Syndrome
Sinusitis, Recurrent pneumonia, Abnormal lymphocyte morphology, Autoimmunity, Bone marrow hypocel... ORPHA:47612
Ciliary Dyskinesia, Primary, 20
Recurrent pneumonia, Respiratory insufficiency due to defective ciliary clearance, Cough, Rhinorr... OMIM:615067
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Decreased T cell activation, Bloody diarrhea, Leukocytosis, Increased circula... OMIM:618213
Idiopathic Chronic Eosinophilic Pneumonia
Nonproductive cough, Parenchymal consolidation, Restrictive ventilatory defect, Hypoxemia, Leukoc... ORPHA:2902
Autoimmunity, Allergic rhinitis, Decreased eosinophil count OMIM:131430
Autoimmune Polyendocrinopathy Type 3
Autoimmunity, Biliary cirrhosis, Aplasia/Hypoplasia of the spleen, Leukopenia, Macrocytic anemia,... ORPHA:227982
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Crohn's disease, Myositis, Increased inflammatory response, Acne, Increased circulating antibody ... ORPHA:69126
Wiskott-Aldrich Syndrome 2
Eczema, Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased mean platelet volume, Sinusitis, Decreased circulating total IgM, Pneumonia, Increased ... OMIM:600903
Follicular Lymphoma
Lymphoma, Splenomegaly, Lymphadenopathy, Abnormality of the peritoneum, Mediastinal lymphadenopathy ORPHA:545
Immunodeficiency 56
Recurrent otitis media, Hepatic failure, Recurrent pneumonia, Cholangitis, Chronic diarrhea, Bron... OMIM:615207
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Membranoproliferative glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria OMIM:613913
Autoimmunity, Decreased proportion of CD3-positive T cells, Rheumatoid factor positive, Decreased... ORPHA:443811
Anemia, Congenital Dyserythropoietic, Type Ib
Anisocytosis, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Erythroid hyperplasia, Reticulocytosi... OMIM:615631
Bile Acid Synthesis Defect, Congenital, 2
Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Failure to thriv... OMIM:235555
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Atelectasis, Chronic sinusitis OMIM:300455
Respiratory Distress Syndrome In Premature Infants
Tachypnea, Dyspnea, Atelectasis, Respiratory distress, Neonatal respiratory distress OMIM:267450
Congenital Disorder Of Glycosylation, Type Id
High palate, Bifid uvula, Failure to thrive, Villous atrophy, Diarrhea, Vomiting OMIM:601110
Fechtner syndrome
Leukocyte inclusion bodies, Hematuria, Proteinuria, Giant platelets, Nephritis, Neutrophil inclus... OMIM:153640
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Decreased circulating IgG level, T lymphocytopenia, Hepatosplenomegaly, Lymphadenit... OMIM:618986
Transcobalamin Deficiency
Pancytopenia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased circula... ORPHA:859
Lipodystrophy, Partial, Acquired, Susceptibility To
Membranoproliferative glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria OMIM:608709
Pediatric Systemic Lupus Erythematosus
Increased circulating lactate dehydrogenase concentration, Proteinuria, Malar rash, Dark urine, L... ORPHA:93552
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia ORPHA:517
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Anemia, Renal insufficiency ORPHA:655
Wolman Disease
Hepatic failure, Splenomegaly, Hepatomegaly, Esophageal varix, Nausea and vomiting, Abdominal dis... ORPHA:75233
Drug-Induced Lupus Erythematosus
Hematuria, Autoimmune antibody positivity, Lupus anticoagulant, Anemia, Malar rash, Pericarditis,... ORPHA:231111
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Pancytopenia, Autoimmunity, Recurrent pneumonia, Thrombocytosis, Megaloblastic anemia, Anemia of ... OMIM:617780
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice, Anemia, Reticulocytosis, Methemoglobinemia OMIM:613977
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Nephrotic syndrome, Proteinuria, Glomerulopathy, Nephropathy, Renal insufficiency, Thrombocytopen... OMIM:254900
Primary Sclerosing Cholangitis
Uveitis, Cholestasis, Neoplasm of the gallbladder, Hepatitis, Pancreatitis, Ascites, Ulcerative c... ORPHA:171
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Abnormal lactate dehydrogenase level, An... ORPHA:67044
Chronic Diarrhea Due To Glucoamylase Deficiency
Nausea, Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphol... ORPHA:103907
Proprotein Convertase 1/3 Deficiency
Diarrhea, Obesity, Malabsorption, Villous atrophy OMIM:600955
Cholelithiasis, Microcytic anemia, Splenomegaly, Jaundice, Anemia, Hemolytic anemia, Abnormal hem... ORPHA:846
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Short stature, Splenomegaly, Intrauterine growth retardation OMIM:618541
Neonatal Lupus Erythematosus
Pancytopenia, Hepatic failure, Abnormality of the liver, Autoimmune antibody positivity, Maculopa... ORPHA:398124
Igg4-Related Retroperitoneal Fibrosis
Rheumatoid factor positive, Unilateral renal hypoplasia, Hashimoto thyroiditis, Hydronephrosis, D... ORPHA:49041
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Impaired platelet aggr... OMIM:300835
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Decreased proportion of CD4-positive helper T cells, Decreased p... OMIM:312863
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Nausea, Dysphagia, Esophageal furrows, Esophagitis, Esophageal stenosis, Abnormal peristalsis, Fe... ORPHA:411696
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anisocytosis, Reduced red cell pyruvate kinase level, Anemia, Prolonged neonatal ja... ORPHA:766
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia, Abnormality of thrombocytes ORPHA:721
Portal Hypertension, Noncirrhotic, 1
Portal hypertension, Splenomegaly, Hepatomegaly, Esophageal varix, Elevated hepatic transaminase OMIM:617068
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Splenomegaly, Hepatomegaly, Short stature, Hepatic fibrosis OMIM:614480
Primary Biliary Cholangitis
Biliary cirrhosis, Hepatic failure, Portal hypertension, Gastrointestinal inflammation, Increased... ORPHA:186
Congenital Disorder Of Glycosylation, Type Ih
Cholestasis, Patent ductus arteriosus, Cryptorchidism, Ascites, Decreased liver function, Hepatom... OMIM:608104
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Allergic rhiniti... OMIM:612714
Galactosemia Iii
Hypergalactosemia, Splenomegaly, Hepatomegaly, Jaundice, Failure to thrive, Vomiting OMIM:230350
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Microvesicular hepatic steatosis, Decreased circulating IgG level, Hepatosplenomegaly, Leukocytos... OMIM:618278
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Recurrent pneumonia, Rectovaginal fistula, T lymphocytopenia, He... ORPHA:35078
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmunity, T lymphocytopenia, Autoimmune hemolytic anemia, Interstitial pneumonitis, Splenomeg... ORPHA:231154
Immunodeficiency 62
Autoimmune thrombocytopenia, Bronchiectasis OMIM:618459
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Pancytopenia, Increased circulating ferritin concentration, Increased circulating lactate dehydro... ORPHA:158057
Immunodeficiency 89 And Autoimmunity
Crohn's disease, Increased circulating IgG level, Decreased eosinophil count, Increased circulati... OMIM:619632
Sweet Syndrome
Increased circulating interleukin 6 concentration, Sterile abscess, Myositis, Leukocytosis, Abnor... ORPHA:3243
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Splenomegaly, Hepatomegaly, Anemia, Hypersplenism, Thrombocytopenia OMIM:610539
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent pneumonia, Recurrent skin infections, Autoimmune hemolytic anemia, Bronchiectasis, Recu... OMIM:616576
Osteopetrosis, Autosomal Recessive 8
Anemia, Splenomegaly, Hepatomegaly, Thrombocytopenia OMIM:615085
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Feeding difficulties in infancy, Hepatic steatosis, Increased C-peptide level, Decreased plasma c... ORPHA:71212
Familial Nasal Acilia
Chronic rhinitis, Dyspnea, Atelectasis, Bronchiectasis, Respiratory distress, Chronic sinusitis ORPHA:922
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormal platelet function, Hypoplastic anemia, Spl... ORPHA:2585
Anemia, Hypochromic Microcytic, With Iron Overload 2
Poikilocytosis, Splenomegaly, Hepatomegaly, Anemia, Decreased mean corpuscular volume, Hypochromia OMIM:615234
Autoinflammation With Arthritis And Dyskeratosis
Increased circulating IgG level, Hypereosinophilia, Increased circulating IgA level, Autoimmune h... OMIM:617388
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Jaundice, Anisocytosis, Anemia, Elevated hepatic ... OMIM:616860
Meconium Aspiration Syndrome
Hypoxemia, Atelectasis, Pulmonary arterial hypertension, Neonatal asphyxia, Pneumothorax, Respira... ORPHA:70588
Iga Pemphigus
Neutrophilic infiltration of the skin, Eosinophilia, Cutaneous abscess, Increased circulating IgA... ORPHA:555905
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Pulmonary infiltrates, Gonadotropin deficiency, Parenchymal consolidation, Restrictive ventilator... OMIM:610978
Anemia, Congenital Dyserythropoietic, Type Ia
Reduced level of N-acetylglucosaminyltransferase II, Poikilocytosis, Splenomegaly, Anisocytosis, ... OMIM:224120
Thyrocerebrorenal Syndrome
Nephritis, Thrombocytopenia, Renal insufficiency ORPHA:3327
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Glomerulonephritis, Chronic kidney disease ORPHA:2172
Anemia, Thrombocytopenia, Acute kidney injury ORPHA:673
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis OMIM:305800
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Lymphopenia, Decreased circulating IgG level OMIM:152800
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... OMIM:187950
Indolent Systemic Mastocytosis
Mastocytosis, Abnormal mast cell morphology, Splenomegaly, Hepatomegaly, Increased proportion of ... ORPHA:98848
Abnormal nasopharyngeal adenoid morphology, Pneumonia, Erythema nodosum, Brain abscess, Inflammat... ORPHA:3392
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Reduced level of N-acetylglucosaminyltransferase II, Splenomegaly, Jaundice, Reti... OMIM:224100
Trichohepatoenteric Syndrome 1
Intractable diarrhea, Bifid uvula, Hepatic failure, Abnormality of the pancreas, Small for gestat... OMIM:222470
Selective Igm Deficiency
Decreased proportion of CD3-positive T cells, Hashimoto thyroiditis, Rheumatoid arthritis, Otitis... ORPHA:331235
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Hepatomegaly, Rhinitis, A... ORPHA:507
Macrothrombocytopenia and progressive sensorineural deafness
Giant platelets, Thrombocytopenia, Abnormality of the urinary system, Macrothrombocytopenia OMIM:600208
Coproporphyria, Hereditary
Constipation, Splenomegaly, Hepatomegaly, Jaundice, Abdominal pain, Increased fecal coproporphyri... OMIM:121300
Marfanoid Habitus With Microcephaly And Glomerulonephritis
Glomerulonephritis, Renal insufficiency OMIM:248760
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Purulent rhinitis, Pneumonia, Conjunctivitis, Failure to thrive, Panhypogammag... OMIM:601457
Recurrent Respiratory Papillomatosis
Nonproductive cough, Recurrent pneumonia, Tracheomalacia, Tachypnea, Dyspnea, Atelectasis, Upper ... ORPHA:60032
Idiopathic Hypereosinophilic Syndrome
Cholangitis, Chronic hepatitis, Anemia, Abdominal distention, Portal fibrosis, Dysphagia, Inflamm... ORPHA:3260
Thrombotic Thrombocytopenic Purpura
Hematuria, Acute kidney injury, Proteinuria, Abnormal lactate dehydrogenase level, Renal insuffic... ORPHA:54057
Portal hypertension, Gastrointestinal hemorrhage, Decreased liver function, Hepatomegaly, Abnorma... ORPHA:79319
Wiskott-Aldrich Syndrome
Recurrent otitis media, Autoimmune hemolytic anemia, Decreased proportion of CD4-positive helper ... OMIM:301000
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgG level, Agammaglobulinemia, Decreased c... OMIM:612692
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgG level, Cutaneous abscess, Decreased pr... OMIM:618944
Polycythemia Vera
Leukocytosis, Increased hemoglobin, Increased hematocrit, Thrombocytosis, Splenomegaly, Increased... OMIM:263300
Porphyria Cutanea Tarda
Viral hepatitis, Hepatic steatosis, Periportal fibrosis, Cutaneous abscess, Chronic hepatitis, Ab... ORPHA:101330
Fanconi Anemia, Complementation Group G
Neutropenia, Anemia, Thrombocytopenia, Leukemia OMIM:614082
Cholestasis, Progressive Familial Intrahepatic, 3
Bile duct proliferation, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Portal f... OMIM:602347
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Fat malabsorption, Intrahepatic cholestasis with episodic jaundice, Splenomegaly,... OMIM:211600
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Ulcerative colitis, Interstitial pneumonitis, Decreased circulating IgA level, Decreased circulat... OMIM:614878
Schimke Immuno-Osseous Dysplasia
Autoimmunity, Bone marrow hypocellularity, Proteinuria, Abnormal proportion of naive CD4 T cells,... ORPHA:1830
Caroli Disease
Nausea, Biliary cirrhosis, Cholestasis, Cholangitis, Elevated gamma-glutamyltransferase level, In... ORPHA:53035
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly, Hepatomegaly OMIM:607685
Mucocutaneous Ulceration, Chronic
Ileitis OMIM:618287
Cystic Echinococcosis
Eosinophilia, Renal cyst, Abnormality of the pancreas, Biliary tract obstruction, Elevated gamma-... ORPHA:400
Myh9-Related Disease
Neutrophil inclusion bodies, Proteinuria, Giant platelets, Nephritis, Elevated hepatic transamina... ORPHA:182050
Sézary Syndrome
Abnormal lymphocyte morphology, Lymphoma, Abnormal immunoglobulin level, Splenomegaly, Hepatomega... ORPHA:3162
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Microvillus Inclusion Disease
Abdominal distention, Abnormality of small intestinal villus morphology, Diarrhea, Villous atrophy ORPHA:2290
Congenital Disorder Of Glycosylation, Type Iij
Hepatic failure, Feeding difficulties, Chronic diarrhea, Splenomegaly, Hepatomegaly, Failure to t... OMIM:613489
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Postnatal growth retardation, Short stature, Abdominal obesity, Truncal obesity OMIM:618160
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Chronic decreased circulating total IgG, Reduced isohemagglutini... OMIM:613493
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Glycogen Storage Disease Vi
Postnatal growth retardation, Increased hepatic glycogen content, Hepatomegaly, Failure to thrive... OMIM:232700
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Proteinuria, Peritonitis, Chronic kidney disease, Foamy urine, Stage... ORPHA:656
Pauci-Immune Glomerulonephritis
Glomerular sclerosis, Proteinuria, Acute kidney injury, Decreased glomerular filtration rate, Scl... ORPHA:93126
Granulomatous Slack Skin
Lymphoma, Abnormality of the lymph nodes, Hodgkin lymphoma ORPHA:33111
Hepatic failure, Leukopenia, Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia, Renal insuff... ORPHA:108
Multiple Acyl-Coa Dehydrogenase Deficiency
Acute pancreatitis, Increased circulating lactate dehydrogenase concentration, Elevated circulati... ORPHA:26791
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Cholelithiasis, Giant cell hepatitis, Jaundice OMIM:214980
Desmoplastic Small Round Cell Tumor
Sarcoma, Testicular neoplasm, Hepatomegaly, Ovarian neoplasm, Neoplasm of the central nervous sys... ORPHA:83469
Congenital Toxoplasmosis
Hepatomegaly, Jaundice, Anemia, Elevated hepatic transaminase, Lymphadenopathy, Thrombocytopenia ORPHA:858
Heme Oxygenase 1 Deficiency
Increased circulating lactate dehydrogenase concentration, Elevated circulating alanine aminotran... OMIM:614034
Igg4-Related Kidney Disease
Rheumatoid factor positive, Proteinuria, Hydronephrosis, Prostatitis, Arteritis, Membranous nephr... ORPHA:449395
Immunodeficiency, Common Variable, 14
Decreased circulating total IgM, Decreased circulating IgG level, Defective B cell differentiatio... OMIM:617765
Majeed Syndrome
Leukocytosis, Congenital hypoplastic anemia, Splenomegaly, Acne, Hepatomegaly, Osteomyelitis, Fai... ORPHA:77297
Rheumatoid factor positive, Sacroiliac arthritis, Arteritis, Anemia, Epididymitis, Liver abscess,... ORPHA:1304
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Erythema nodosum, Splenomegaly, Elevated circulating C-reactive protein concentrati... OMIM:611762
Forsythe-Wakeling Syndrome
Nephrotic syndrome, Thrombocytopenia OMIM:613606
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Familial Mediterranean Fever
Erysipelas, Crohn's disease, Leukocytosis, Orchitis, Peritonitis, Neutrophilia, Splenomegaly, Hep... OMIM:249100
Cold Agglutinin Disease
Autoimmunity, Abnormal urinary color, Splenomegaly, Hepatomegaly, Hemolytic anemia, Lymphadenopathy ORPHA:56425
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Decreased circulating total IgM, Eosinophilia, Squamous cell carcinoma, Increased circulating IgG... OMIM:243700
Pancytopenia, Autoimmunity, Anti-dsDNA antibody positivity, Pneumonia, Hematuria, Proteinuria, Au... ORPHA:1855
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Renal hypoplasia, Chronic kidney disease, Tubulointerstitial fibrosis, Anemia, Renal... OMIM:613092
Bone Marrow Failure Syndrome 4
Leukopenia, Bone marrow hypocellularity, Eczema, Anemia, Thrombocytopenia OMIM:618116
Legionnaires Disease
Hyponatremia, Bone marrow hypocellularity, Infectious encephalitis, Endocarditis, Myocarditis, Pa... ORPHA:549
Igg4-Related Submandibular Gland Disease
Eosinophilia, Abnormal salivary gland morphology, Increased circulating IgG level, Cholangitis, E... ORPHA:449432
Primary Myelofibrosis
Pancytopenia, Increased circulating lactate dehydrogenase concentration, Hepatosplenomegaly, Port... ORPHA:824
Nausea, Gastrointestinal hemorrhage, Hepatitis, Hematemesis, Pancreatitis, Fasciitis, Diarrhea, A... ORPHA:73263
Congenital Bile Acid Synthesis Defect Type 3
Fat malabsorption, Hepatic failure, Hepatosplenomegaly, Elevated circulating alanine aminotransfe... ORPHA:79302
Cryoglobulinemic Vasculitis
Viral hepatitis, Abnormality of the liver, Hematuria, Proteinuria, Splenomegaly, Hepatomegaly, Ke... ORPHA:91138
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, Recurrent otitis media, Agammaglobulinemia, Prostatitis, Anemia,... OMIM:300755
Immunodeficiency 54
Intrauterine growth retardation, Splenomegaly, Hepatomegaly, Short stature, Failure to thrive, Ly... OMIM:609981
Immunodeficiency 55
Neutropenia, Lymphadenopathy, Myelodysplasia OMIM:617827
Bleeding Disorder, Platelet-Type, 24
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Imp... OMIM:619271
Tyrosinemia Type 1
Acute hepatic failure, Hepatocellular carcinoma, Splenomegaly, Hepatomegaly ORPHA:882
Combined Immunodeficiency Due To Crac Channel Dysfunction
Autoimmunity, Pneumonia, Splenomegaly, Hepatomegaly, Chronic otitis media, Lymphadenopathy, Hemol... ORPHA:169090
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis OMIM:608898
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Autoimmunity, Hemophagocytosis, Splenomegaly, Anemia, Panniculitis OMIM:618398
Sea-Blue Histiocytosis
Blepharitis, Splenomegaly, Hepatomegaly, Mediastinal lymphadenopathy, Thrombocytopenia, Sea-blue ... ORPHA:158029
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Atopic dermatitis, Pneumonia, Abnormally low T cell receptor excision circle l... OMIM:618806
Galloway-Mowat Syndrome 2, X-Linked
Nephrotic syndrome, Glomerular sclerosis, Proteinuria, Stage 5 chronic kidney disease, Minimal ch... OMIM:301006
Classic Mycosis Fungoides
Abnormal lymphocyte morphology, Lymphoma, Splenomegaly, Hepatomegaly, Cutaneous T-cell lymphoma, ... ORPHA:2584
Diffuse Alveolar Hemorrhage
Autoimmunity, Leukocytosis, Rheumatoid factor positive, Hematuria, Proteinuria, Antiphospholipid ... ORPHA:90060
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Abnormality of the lymph no... OMIM:612840
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Nephrotic syndrome, IgA deposition in the glomerulus, Proteinuria, R... OMIM:616730
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Hydronephrosis, Megaloblastic anemia, Neutropenia, Hydroureter, Thrombocyto... OMIM:598500
Acute Erythroid Leukemia
Pancytopenia, Leukopenia, Bone marrow hypocellularity, Anemia, Erythroid hypoplasia ORPHA:318
Nk-Cell Enteropathy
Hematochezia, Gastric ulcer, Intestinal polyp, Increased T cell count, Constipation, Gastroesopha... ORPHA:263665
Rowley-Rosenberg Syndrome
Pulmonary arterial hypertension, Recurrent pneumonia, Atelectasis OMIM:268500
Purine Nucleoside Phosphorylase Deficiency
Lymphoma, Abnormality of B cell physiology, Autoimmune hemolytic anemia, Splenomegaly, Autoimmune... OMIM:613179
Immunodeficiency 46
Intermittent thrombocytopenia, Neutropenia, Anemia, Chronic oral candidiasis, Conjunctivitis OMIM:616740
Fetal Parvovirus Syndrome
Anemia, Thrombocytopenia ORPHA:295
Diffuse Neonatal Hemangiomatosis
Renal hypoplasia/aplasia, Hepatomegaly, Anemia, Renal insufficiency, Thrombocytopenia ORPHA:2123
Systemic Mastocytosis With Associated Hematologic Neoplasm
Nausea, Elevated total serum tryptase, Thrombocytopenia, Diarrhea, Peptic ulcer, Normocytic anemi... ORPHA:98849
Congenital Enterovirus Infection
Abnormal macrophage morphology, Hepatic failure, Leukopenia, Leukocytosis, Cholestasis, Infectiou... ORPHA:292
Actinic Prurigo
Cheilitis, Glomerulonephritis, Pyoderma OMIM:174770
Chronic Myeloid Leukemia
Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Splenomegaly, Thrombocytopenia, Abnorm... ORPHA:521