Not currently registered for phenotyping at IMPC

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

Gene Summary

tumor necrosis factor, alpha-induced protein 3
A20,  Tnfip3,  zinc finger protein A20

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 Tnfaip3 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.

The table below shows human diseases associated to Tnfaip3 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Autoinflammatory Syndrome, Familial, Behcet-Like
Colitis, Anterior uveitis, Lymphopenia, Skin rash, Ileal ulcer, Thrombocytopenia, Hemolytic anemia OMIM:616744

The table below shows human diseases predicted to be associated to Tnfaip3 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Bloody diarrhea, Anemia, Ulcerative colitis OMIM:619398
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... OMIM:616452
Immunodeficiency 76
B lymphocytopenia, Colitis, Lymphadenopathy, Splenomegaly, Chronic diarrhea, Recurrent pneumonia,... OMIM:619164
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Immunodeficiency 72 With Autoinflammation
Increased B cell count, Herpes simplex encephalitis, Increased proportion of memory T cells, Bron... OMIM:618982
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Decreased specific pneumococcal antib... OMIM:617006
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Inflammation of the large intestine, Monocytosis... OMIM:619281
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Immunodeficiency 37
Infectious encephalitis, Decreased circulating antibody level, Decreased proportion of central me... OMIM:616098
Hyperlipoproteinemia, Type Id
Hepatomegaly, Colitis, Splenomegaly OMIM:615947
Hemoglobin H Disease
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia OMIM:613978
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Decreased circulating total IgM, Splenomegaly OMIM:606445
Immunodeficiency 70
B lymphocytopenia, Decreased circulating total IgA, Decreased circulating total IgG, Celiac disea... OMIM:618969
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Inflammation of the large intestine, Folliculitis, Colitis, Decreased circulating a... OMIM:300635
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Inflammation of the large intestine, Mucoi... OMIM:615767
Immunodeficiency 60 And Autoimmunity
Bronchiectasis, Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, C... OMIM:618394
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Arthritis OMIM:216950
Immunodeficiency 24
Decreased specific pneumococcal antibody level, Decreased circulating IgG level, Lymphopenia, Dec... OMIM:615897
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequat... OMIM:237800
Sea-Blue Histiocyte Disease
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Recurrent otitis media, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemoly... ORPHA:444463
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, Eczema, Pneumonia, Lymphadenopathy, Splenomegaly, Otitis media, Diarrhea, T lymphoc... OMIM:608971
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Lymphadenopathy, Decreased circulating antibody level, Anemia, Splenomegaly, Hepatosplenomegaly, ... OMIM:613101
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Hepatomegaly, Decreased proportion of class-switched memory B cells, Medi... OMIM:615559
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Immunodeficiency 14A, Autosomal Dominant
Decreased specific pneumococcal antibody level, Increased proportion of transitional B cells, Dec... OMIM:615513
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, Inflammation of the large intestine, Bronchiectasis, Decreased circulating ant... OMIM:618108
Halothane Hepatitis
Viral hepatitis, Eosinophilia, Hepatitis, Jaundice OMIM:234350
Immunodeficiency 15A
Recurrent otitis media, Acne inversa, Chronic mucocutaneous candidiasis, Decreased proportion of ... OMIM:618204
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly OMIM:206400
Immunodeficiency 48
Hepatomegaly, Eczematoid dermatitis, Pneumonia, Splenomegaly, Panhypogammaglobulinemia, Diarrhea OMIM:269840
Immunodeficiency 84
B lymphocytopenia, Perianal abscess, Splenomegaly OMIM:619437
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... OMIM:603902
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Thrombocytosis, Cystic acne, Sterile arthritis, Sterile abscess, Acne, Arthritis, Hepatosplenomeg... OMIM:604416
Reticuloendotheliosis, X-Linked
Lymphadenopathy, Hepatosplenomegaly, Anemia, Jaundice OMIM:312500
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Abnormal intestine morphology, Lymphadenopathy, Recurrent otitis media, Splenomegal... OMIM:618495
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia OMIM:233650
Autoimmune Lymphoproliferative Syndrome, Type Iia
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... OMIM:603909
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... OMIM:133180
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Skin rash, Histiocytosis ORPHA:157997
Anemia, Congenital Dyserythropoietic, Type Ii
Anemia of inadequate production, Cholelithiasis, Splenomegaly, Reticulocytosis, Jaundice OMIM:224100
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Increased circulating antibody level... OMIM:615285
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly OMIM:185020
Idiopathic Non-Lupus Full-House Nephropathy
Abnormal glomerular mesangium morphology, Synovitis, Nephrotic syndrome, Arthritis, Acute kidney ... ORPHA:567544
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... OMIM:206000
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Immunodeficiency 52
Bronchiectasis, Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Ly... OMIM:617514
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia, Recurrent otitis media OMIM:616941
Autoinflammatory Syndrome, Familial, Behcet-Like
Colitis, Anterior uveitis, Lymphopenia, Skin rash, Ileal ulcer, Thrombocytopenia, Hemolytic anemia OMIM:616744
Complement Component C1S Deficiency
Hashimoto thyroiditis, Hepatitis OMIM:613783
Complement Component 4B Deficiency
Chronic active hepatitis OMIM:614379
Talo-Patello-Scaphoid Osteolysis
Synovitis, Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Osteolysis of patellae ORPHA:50809
Inflammatory Bowel Disease 28, Autosomal Recessive
Folliculitis, Pyoderma, Perianal abscess, Crohn's disease, Enterocolitis, Colitis, Hematochezia OMIM:613148
Osteochondrosis Of The Tarsal Bone
Tarsal stippling, Abnormal tarsal ossification, Chondritis, Tarsal sclerosis, Arthritis, Osteocho... ORPHA:563991
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Decreased circulating IgG level, Otitis media, Decreased proportion of CD4-... OMIM:312863
Congenital Atransferrinemia
Anemia, Arthritis, Abnormality of the pancreas ORPHA:1195
Spherocytosis, Type 5
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:612690
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circl... OMIM:618987
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent infection of the gastrointestinal tract, Pneumonia, Stomatitis, Lymphadenopathy, Lympha... ORPHA:911
Renal Failure, Progressive, With Hypertension
Nephritis, Stage 5 chronic kidney disease, Microscopic hematuria, Proteinuria, Renal insufficiency OMIM:161900
Iga Nephropathy, Susceptibility To, 2
IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria OMIM:613944
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Anorexia, Erythroderma, Pneumonia, Protracted diarrhea, Chronic oral candidiasis, Hepatitis, Decr... ORPHA:169160
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Hepatomegaly, Decreased proportion of class-switched memory B cells, Pneumonia... OMIM:607594
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Systemic Lupus Erythematosus
Lupus nephritis, Pericarditis, Leukopenia, Nephritis, Arthritis, Malar rash, Thrombocytopenia, He... OMIM:152700
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Bronchiectasis, Lymphadenopathy, Hepatospl... OMIM:619126
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Skin rash, Pancytopenia, ... OMIM:618963
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Reticulocytosis, Anemia of inadequate ... OMIM:613673
Immunodeficiency 17
Eczema, Abnormal intestine morphology, Recurrent otitis media, Decreased proportion of CD8-positi... OMIM:615607
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Inflammatory Bowel Disease 29
Crohn's disease, Ulcerative colitis OMIM:618077
Agammaglobulinemia 1, Autosomal Recessive
Sinusitis, B lymphocytopenia, Neutropenia, Pneumonia, Bronchiectasis, Recurrent otitis media, Cro... OMIM:601495
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Arthritis, Eosinophilia, Lymphopenia, Limitation of joint mobility ORPHA:2582
Graft Versus Host Disease
Stomatitis, Fasciitis, Hepatosplenomegaly, Dupuytren contracture, Maculopapular exanthema, Elevat... ORPHA:39812
Fechtner syndrome
Neutrophil inclusion bodies, Hematuria, Nephritis, Leukocyte inclusion bodies, Stage 5 chronic ki... OMIM:153640
Macrophage Activation Syndrome
Hepatomegaly, Neutropenia, Hepatitis, Anemia, Splenomegaly, Increased inflammatory response, Decr... ORPHA:158061
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae OMIM:609655
Cirrhosis, Familial
Cirrhosis, Chronic active hepatitis, Hepatitis OMIM:118900
Systemic Lupus Erythematosus 16
Nephritis OMIM:614420
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Lymphadenopathy, Splenomegaly, Uveitis, Decreased circulatin... OMIM:614700
Multicentric Reticulohistiocytosis
Arthritis, Histiocytosis ORPHA:139436
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, Pneumonia, Arthritis, Otitis media, Diarrhea, T lymphocytopenia, Purulent rhin... OMIM:601457
Autosomal Agammaglobulinemia
Sinusitis, Neutropenia, Bronchiectasis, Chronic otitis media, Hepatitis, Arthritis, Malabsorption... ORPHA:33110
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczema, Neutropenia, Erythroderma, Glomerulonephritis, Villous atrophy, Coombs-positive hemolytic... OMIM:304790
Cyanosis And Hepatic Disease
Hepatitis OMIM:219400
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Atopic dermatitis, Increased circulating interleukin 6, Decreased proportion of class-switched me... OMIM:618944
Hepatocellular Carcinoma
Subacute progressive viral hepatitis, Micronodular cirrhosis, Hepatocellular carcinoma OMIM:114550
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymp... OMIM:614470
Immunodeficiency 61
Recurrent otitis media, Malabsorption, Arthritis, Frequent Giardia lamblia infestation, Recurrent... OMIM:300310
Mantle Cell Lymphoma
Lymphadenopathy, Abnormality of the gastrointestinal tract, Anorexia, Splenomegaly ORPHA:52416
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal tubular atrophy, Nephritis, Gout, Nephropathy, Renal insufficiency OMIM:162000
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Tubulointerstitial nephritis, Erythroderma, Infectious encephalitis, Nephrotic syndr... ORPHA:139402
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Anemia, Splenomegaly, Increased circulating... ORPHA:100024
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Mediastinal lymphadenopathy, Bronchiectasis, Increased circulating IgA le... OMIM:618534
Adult-Onset Still Disease
Myocarditis, Leukocytosis, Hepatomegaly, Pericarditis, Hepatitis, Arthritis, Splenomegaly, Neutro... ORPHA:829
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Nephrotic syndrome, Hepatitis, Hepatic failure, Jaundice ORPHA:60
X-Linked Lymphoproliferative Disease
Myocarditis, Inflammation of the large intestine, Lymphadenopathy, Decreased circulating antibody... ORPHA:2442
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Eczema, Psoriasiform dermatitis, Bronchiectasis, Decreased circulating IgA level, L... OMIM:616100
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Bronchiectasis, Lymphadenopathy, Abscess,... OMIM:150550
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Acholic stools, Hepatitis, Splenomegaly, Cirrhosis, Steatorrhea, Elevated circulati... OMIM:613812
Nausea and vomiting, Recurrent cutaneous abscess formation, Arthritis, Skin rash, Flexion contrac... ORPHA:231
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of class-switched memory B cells, Celiac disease, Decreased pr... OMIM:619375
Wilson Disease
Hepatomegaly, Hepatitis, Anemia, Arthritis, Acute hepatitis, Splenomegaly, Pathologic fracture, C... ORPHA:905
Mueller-Weiss Syndrome
Sclerosis of foot bone, Chondritis, Limitation of movement at ankles, Knee osteoarthritis, Arthri... ORPHA:566943
Myh9-Related Disease
Neutrophil inclusion bodies, Increased mean platelet volume, Nephritis, Giant platelets, Congenit... ORPHA:182050
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Eczema, Lymphadenopathy, Lymphadenitis, Abscess, Splenomegaly, Perianal abscess, Hepatosplenomega... OMIM:618935
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Abnormality of serum cytokine level, Increased circulating interleukin 6, Neutropen... ORPHA:540
Autoimmune Hepatitis
Inflammation of the large intestine, Hepatocellular carcinoma, Sclerosing cholangitis, Abdominal ... ORPHA:2137
Autoinflammation With Infantile Enterocolitis
Feeding difficulties in infancy, Villous atrophy, Anemia, Splenomegaly, Reduced natural killer ce... OMIM:616050
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Enlarged mesenteric lymph node, Anorexia, Pneumonia, Lymphadenopath... OMIM:209950
Infection-Related Hemolytic Uremic Syndrome
Brain abscess, Myocarditis, Septic arthritis, Intussusception, Diarrhea, Hemolytic anemia, Abdomi... ORPHA:544482
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Bronchiectasis, Lymphadenopathy, Recurrent otitis media, Decreased s... OMIM:300853
X-Linked Agammaglobulinemia
Sinusitis, Neutropenia, Recurrent cutaneous abscess formation, Chronic otitis media, Hepatitis, A... ORPHA:47
Iga Nephropathy, Susceptibility To, 1
IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria OMIM:161950
Alpha-Heavy Chain Disease
Hepatomegaly, Abnormality of the small intestine, Ascites, Lymphadenopathy, Anemia, Malabsorption... ORPHA:100025
Thyrocerebrorenal Syndrome
Thrombocytopenia, Nephritis, Renal insufficiency ORPHA:3327
Spherocytosis, Type 4
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:612653
Dyskeratosis Congenita, Autosomal Recessive 5
Leukopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Esophageal stenosi... OMIM:615190
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, ... OMIM:619220
Isolated Agammaglobulinemia
Sinusitis, Pneumonia, Recurrent cutaneous abscess formation, Abnormal lymphocyte morphology, Anem... ORPHA:229717
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Chondritis, Osteochondrosis, Arthritis, Joint stiffness, Progressive join... ORPHA:564003
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Inflammation of the large intestine, Decreased mean platelet volume, Lymphadenopathy, Lymphocytos... OMIM:617718
Erythrocytosis, Familial, 8
Normocytic anemia, Polycythemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyti... OMIM:222800
Anemia, Recurrent pneumonia, Neutropenia, Splenomegaly OMIM:602079
Osteoarthritis Susceptibility 3
Joint stiffness, Osteoarthritis, Osteoarthritis of the first carpometacarpal joint, Osteoarthriti... OMIM:607850
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Jaundice, Anisocytosis, Poikilocytosis... OMIM:615631
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:185000
Cyclic Neutropenia
Sinusitis, Enterocolitis, Peritonitis, Lymphadenopathy, Periodontitis, Perianal abscess, Otitis m... ORPHA:2686
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... ORPHA:3261
Diarrhea 8, Secretory Sodium, Congenital
Secretory diarrhea, Abdominal distention, Inflammation of the large intestine, Elevated fecal sodium OMIM:616868
Pediatric Systemic Lupus Erythematosus
Abdominal distention, Diarrhea, Abdominal pain, Vomiting, Nephrotic syndrome, Discoid lupus rash,... ORPHA:93552
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Eczema, Abnormal intestine morphology, Neutropenia, Tubulointerstitial nephritis, Neutropenia in ... ORPHA:37042
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Sinusitis, B lymphocytopenia, Atopic dermatitis, Decreased specific antibody response to polysacc... ORPHA:70593
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... ORPHA:3203
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, B lymphocytopenia, Sinusitis, Inflammatory abnormality of the skin, Recurrent oti... ORPHA:277
Wilson Disease
Hemolytic anemia, Hyperphosphaturia, Dysphagia, Renal tubular dysfunction, Chondrocalcinosis, Ami... OMIM:277900
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Brachydactylous Dwarfism, Mseleni Type
Hip osteoarthritis, Knee osteoarthritis, Osteopenia, Abnormality of the wrist, Joint subluxation,... ORPHA:2619
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Sinusitis, Recurrent infection of the gastrointestinal tract, Neutropenia... ORPHA:572
Farber Lipogranulomatosis
Hepatomegaly, Decreased acid ceramidase activity, Osteolysis involving bones of the feet, Arthrit... OMIM:228000
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegal... OMIM:616689
Anemia, Congenital Dyserythropoietic, Type Ia
Prolonged neonatal jaundice, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, R... OMIM:224120
Immunodeficiency 92
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... OMIM:619652
Cernunnos-Xlf Deficiency
B lymphocytopenia, Decreased circulating antibody level, Anemia, Lymphopenia, Thrombocytopenia, T... ORPHA:169079
Polycythemia Vera
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... OMIM:263300
Cryoglobulinemic Vasculitis
Keratoconjunctivitis sicca, Hepatomegaly, Gastrointestinal infarctions, Hematuria, Arthritis, Spl... ORPHA:91138
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Spherocytosis, Type 2
Acanthocytosis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:616649
Inflammatory Bowel Disease (Crohn Disease) 30
Bloody diarrhea, Abnormal intestine morphology, Vomiting, Esophagitis, Duodenitis, Chronic diarrh... OMIM:619079
Bare Lymphocyte Syndrome, Type Ii
Cholangitis, Infectious encephalitis, Neutropenia, Villous atrophy, Biliary tract abnormality, Pr... OMIM:209920
Caspase 8 Deficiency
Eczema, Pneumonia, Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG le... OMIM:607271
Ebola Hemorrhagic Fever
Dysphagia, Leukopenia, Vomiting, Nausea, Hepatitis, Melena, Gastrointestinal hemorrhage, Acute pa... ORPHA:319218
Bacterial Toxic-Shock Syndrome
Sinusitis, Myocarditis, Fasciitis, Hepatitis, Septic arthritis, Diarrhea, Abdominal pain, Increas... ORPHA:36234
Majeed Syndrome
Inflammatory abnormality of the skin, Leukocytosis, Abnormal inflammatory response, Hepatomegaly,... ORPHA:77297
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Eczema, Inflammation of the large intestine, Neutropenia, Dysphagia, Colitis, Decreased circulati... OMIM:608809
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Rectovaginal fistula, Perianal abscess, Enterocutaneous fistula, Enterocolitis OMIM:612567
Combined Immunodeficiency Due To Partial Rag1 Deficiency
B lymphocytopenia, Interstitial pneumonitis, Neutropenia in presence of anti-neutropil antibodies... ORPHA:231154
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly OMIM:607685
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Neutropenia, Infectious encephalitis, Lymphadenopathy, Decreased circulating IgG le... OMIM:308240
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Abdominal pain, Arthritis, Splenomegaly, Skin rash, Recurrent aphthous stomatitis, ... OMIM:611762
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:182900
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... ORPHA:521
Kienbock Disease
Abnormality of the wrist, Osteochondritis Dissecans, Osteoarthritis, Limitation of joint mobility ORPHA:97332
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Reduced isohemagglutinin level, Decreased ... OMIM:613493
Congenital Bile Acid Synthesis Defect Type 2
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Rickets, Elevated ... ORPHA:79303
Felty Syndrome
Sinusitis, Hepatomegaly, Neutropenia, Pericarditis, Episcleritis, Synovitis, Chronic otitis media... ORPHA:47612
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis OMIM:618852
Hepatomegaly, Hepatitis, Anemia, Abnormal hemoglobin, Cholelithiasis, Splenomegaly, Reduced bone ... ORPHA:848
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Thrombocythemia 3
Thrombocytosis OMIM:614521
Heme Oxygenase 1 Deficiency
Thrombocytosis, Hepatomegaly, Asplenia, Coombs-positive hemolytic anemia, Hematuria, Nephritis, E... OMIM:614034
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Hepatomegaly, Hepatic fibrosis, Splenomegaly OMIM:614480
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Acholic stools, Rickets, Splenomegaly, Cirrhosis, Steatorrhea... OMIM:607765
Legionnaires Disease
Myocarditis, Nausea and vomiting, Anorexia, Pericarditis, Infectious encephalitis, Endocarditis, ... ORPHA:549
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Membranous nephropathy, Hepatic cysts, Colonic eosinophilia, Hepatosplenomegal... OMIM:618999
Hemochromatosis, Type 3
Neutropenia, Anemia, Arthritis, Cirrhosis, Lymphopenia, Elevated hepatic transaminase OMIM:604250
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Pustule, Myositis, Acne, Arthritis, Increased inflammatory response, Crohn's disease, Limitation ... ORPHA:69126
Developmental Dysplasia Of The Hip 2
Arthritis, Hip osteoarthritis OMIM:615612
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, F... OMIM:601859
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... OMIM:235700
Immunodeficiency 85 And Autoimmunity
Eczema, Tube feeding, Erythroderma, Villous atrophy, Vomiting, Decreased circulating IgA level, O... OMIM:619510
Schnitzler Syndrome
Leukocytosis, Hepatomegaly, Anemia, Arthritis, Splenomegaly, Skin rash, Increased bone mineral de... ORPHA:37748
Eng-Strom Syndrome
Arthritis, Camptodactyly of finger ORPHA:1937
Autoimmune Hemolytic Anemia, Cold Type
Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly ORPHA:228312
Congenital Enterovirus Infection
Myocarditis, Leukocytosis, Neutropenia, Infectious encephalitis, Leukopenia, Hepatitis, Anemia, A... ORPHA:292
5-Oxoprolinase Deficiency
Diarrhea, Abdominal pain, Vomiting, Enterocolitis OMIM:260005
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Prolonged neonatal jaundice,... ORPHA:766
Anemia, Abnormal hemoglobin, Cholelithiasis, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... ORPHA:846
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Abdominal pain, Intestinal obstruction, Crohn's disease, Rec... OMIM:266600
Tyrosinemia Type 1
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly ORPHA:882
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Familial Cold Autoinflammatory Syndrome 1
Leukocytosis, Arthritis, Uveitis, Skin rash, Renal amyloidosis, Conjunctivitis OMIM:120100
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Poikilocytosis, Decreased mean corpuscular volume OMIM:615234
Hemophagocytic Lymphohistiocytosis, Familial, 4
Conjunctivitis, Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Skin rash, Thro... OMIM:603552
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Vomiting, Abdominal distention, Abnormality of enteric ganglion morphology... OMIM:142623
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Tubulointerstitial Nephritis With Uveitis
Reversible renal failure, Anterior uveitis, Panuveitis, Uveitis, Glomerulonephritis, Non-caseatin... OMIM:607665
Psoriasis 14, Pustular
Leukocytosis, Cholangitis, Psoriasiform dermatitis, Pustule, Polyarticular arthritis, Oligoarthri... OMIM:614204
Brain abscess, Abnormality of the spleen, Splenic abscess, Lung abscess, Pneumonia, Prostatitis, ... ORPHA:31202
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Macrocytic anemia, Eczema, Vomiting, Megaloblastic anemia, Septic arthritis, Recu... OMIM:617780
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Synovial hypertrophy, Constrictive pericarditis, Congenital finger flexion contractures, Generali... OMIM:208250
Pseudomyxoma Peritonei
Nausea and vomiting, Inflammation of the large intestine, Ascites, Lymphadenopathy, Abnormality o... ORPHA:26790
Cinca Syndrome
Leukocytosis, Patellar overgrowth, Anemia, Arthritis, Hepatosplenomegaly, Uveitis, Skin rash, Eos... OMIM:607115
Omenn Syndrome
B lymphocytopenia, Hepatomegaly, Erythroderma, Pneumonia, Lymphadenopathy, Hypoplasia of the thym... OMIM:603554
Familial Mediterranean Fever
Leukocytosis, Hepatomegaly, Pericarditis, Nephrotic syndrome, Peritonitis, Vomiting, Arthritis, S... OMIM:249100
Immunodeficiency 13
B lymphocytopenia, Bronchiectasis, Recurrent otitis media, Decreased proportion of CD4-positive h... OMIM:615518
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio, Nephritis, Stage 5 chronic kidney disease OMIM:609057
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Increased red cell hemolysis by shear stress, Hemoglobinuria, Hepatitis, Cholelithi... OMIM:194380
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Neutropenia, Anemia, Gout, Renal cyst, Nephropathy, Chronic k... OMIM:617056
Thyrocerebroretinal Syndrome
Thrombocytopenia, Nephritis OMIM:274240
African Iron Overload
Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Peritonitis, Elevated hepatic iron conc... ORPHA:139507
Angel-Shaped Phalangoepiphyseal Dysplasia
Premature osteoarthritis, Hyperextensibility of the finger joints, Hip osteoarthritis, Delayed os... OMIM:105835
Visceral Myopathy 2
Dysphagia, Rectal prolapse, Megaduodenum, Intestinal pseudo-obstruction, Volvulus, Esophagitis, G... OMIM:619350
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Abnormal B cell count, Decreased circulating IgA level, Lymphadenitis, Decreased ci... ORPHA:331206
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly OMIM:314050
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Esophagitis, Eosinophilic, 2
Eosinophilia, Esophagitis, Dysphagia, Vomiting OMIM:613412
Esophagitis, Eosinophilic, 1
Eosinophilia, Esophagitis, Dysphagia, Vomiting OMIM:610247
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Mastocytosis ORPHA:66661
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Hepatitis, Palmoplantar hyperkeratosis ORPHA:363523
Retinal Venous Beading
Nephritis, Neutropenia OMIM:180080
Chondrocalcinosis 2
Arthropathy, Osteoarthritis, Polyarticular chondrocalcinosis OMIM:118600
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Acquired Partial Lipodystrophy
Hepatic steatosis, Microscopic hematuria, Lymphocytosis, Glomerulopathy, Proteinuria ORPHA:79087
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Eczema, Decreased proportion of CD8-positive T cells OMIM:614493
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Polyarticular arthritis, Synovitis, Symmetric polyarthritis, Reduced bone mineral density, Osteop... ORPHA:85435
Bile Acid Synthesis Defect, Congenital, 4
Hepatomegaly, Giant cell hepatitis, Elevated hepatic transaminase, Hepatic failure, Prolonged neo... OMIM:214950
Autoimmune Polyendocrinopathy Type 4
Keratoconjunctivitis sicca, Macrocytic anemia, Tubulointerstitial nephritis, Leukopenia, Aplasia/... ORPHA:227990
Griscelli Syndrome
Pyloric stenosis, Hepatomegaly, Leukopenia, Hepatitis, Splenomegaly, Thrombocytopenia, Abnormalit... ORPHA:381
Trichohepatoenteric Syndrome 2
Hepatomegaly, Villous atrophy, Colitis, Hepatitis, Cirrhosis, Diarrhea OMIM:614602
Immunodeficiency, Common Variable, 2
Conjunctivitis, Hepatomegaly, Bronchiectasis, Decreased circulating IgA level, Lymphadenopathy, D... OMIM:240500
Juvenile Idiopathic Arthritis
Psoriasiform dermatitis, Hepatomegaly, Abnormal joint morphology, Abnormal sacroiliac joint morph... ORPHA:92
Pfapa Syndrome
Nausea and vomiting, Hepatomegaly, Infectious encephalitis, Malabsorption, Arthritis, Splenomegal... ORPHA:42642
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Acanthocytosis, Stomatocytosis, Splenomegaly, Jaundice, Reticulocytosis, Sphero... OMIM:109270
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
Immunodeficiency, Common Variable, 13
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level OMIM:616873
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Cardiomegaly ORPHA:88643
Brain abscess, Myocarditis, Sinusitis, Cholangitis, Hepatitis, Abdominal pain, Abnormality of the... ORPHA:2552
Avian Influenza
Infectious encephalitis, Leukopenia, Pneumonia, Vomiting, Hepatitis, Acute kidney injury, Increas... ORPHA:454836
Sweet Syndrome
Leukocytosis, Chronic lymphatic leukemia, Increased circulating interleukin 6, Sterile abscess, I... ORPHA:3243
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Neutropenia, Stomatitis, Chronic hepatitis, Hepatitis, Splenomegaly, Cirrhosis, Dia... OMIM:308230
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Eczema, Abnormal intestine morphology, Neutropenia in presence of anti-neutropil antibodies, Hepa... ORPHA:391487
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Hepatomegaly, Neutropenia, Normocytic anemia, Megaloblastic erythro... ORPHA:75564
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Enteroviral hepatitis, Infectious encephalitis, Pyoderma, Absent circulating B cells, ... OMIM:307200
Lesch-Nyhan Syndrome
Renal insufficiency, Hematuria, Anemia, Gout ORPHA:510
Myocarditis, Tenesmus, Hemolytic-uremic syndrome, Uveitis, Abdominal pain, Conjunctivitis, Leukoc... ORPHA:810
Immunodeficiency 56
Recurrent infection of the gastrointestinal tract, Cholangitis, Bronchiectasis, Recurrent otitis ... OMIM:615207
Sinusitis, Infectious encephalitis, Neutropenia, Pneumonia, Bronchiectasis, Hepatitis, Osteomyeli... ORPHA:1163
Selective Igm Deficiency
Non-infectious meningitis, Neutropenia in presence of anti-neutropil antibodies, Fasciitis, Decre... ORPHA:331235
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Decreased circulating antibody level, Splenome... ORPHA:2585
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Immunodeficiency 68
B lymphocytopenia, Lymphadenitis, Abscess, Septic arthritis, Recurrent skin infections, T lymphoc... OMIM:612260
Eosinophilic Fasciitis
Myositis, Fasciitis, Arthritis, Abnormal eosinophil morphology, Eosinophilia ORPHA:3165
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Giant cell hepatitis, Nephrocalcinosis, Renal tubular acidosis, Arthrogryposis multiplex congenit... OMIM:613404
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Erythroderma, Increased circulating IgA level, Lymphadenopathy, Increased circulatin... ORPHA:169154
Isolated Sedoheptulokinase Deficiency
Hypochromic microcytic anemia, Hepatitis, Anemia, Arthrogryposis multiplex congenita, Cholestatic... ORPHA:440713
Immunodeficiency 36
Chronic lymphatic leukemia, Bronchiectasis, Decreased circulating antibody level, Splenomegaly, C... OMIM:616005
Ankylosing Vertebral Hyperostosis With Tylosis
Osteoarthritis, Palmoplantar keratoderma ORPHA:2206
Combined Immunodeficiency Due To Dock8 Deficiency
Atopic dermatitis, B lymphocytopenia, Pneumonia, Chronic otitis media, Anal canal squamous carcin... ORPHA:217390
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Absent tonsils, Decreased circulating IgA level, Decreased circulating IgG level, Abnormality of ... OMIM:611926
Autoimmune Polyendocrinopathy Type 3
Keratoconjunctivitis sicca, Macrocytic anemia, Tubulointerstitial nephritis, Leukopenia, Aplasia/... ORPHA:227982
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased specifi... OMIM:617765
Hepatitis, Fulminant Viral, Susceptibility To
Hepatomegaly, Nausea, Fulminant hepatitis, Poor appetite, Hepatic failure, Elevated hepatic trans... OMIM:618549
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatomegaly, Anemia, Abnormality of the lymph nodes, Splenomegaly, Hepatosplenomeg... OMIM:612840
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Multiple Epiphyseal Dysplasia Type 1
Abnormal acetabulum morphology, Genu varum, Delayed epiphyseal ossification, Genu valgum, Finger ... ORPHA:93308
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Synovial hypertrophy, Abnormal hip joint morphology, Synovitis, Hip osteoarthritis, Ankle swellin... ORPHA:85408
Lymphoproliferative Syndrome 2
Hepatomegaly, Ascites, Lymphadenopathy, Decreased circulating antibody level, EBV encephalitis, S... OMIM:615122
Pyoderma Gangrenosum
Inflammation of the large intestine, Pustule, Myositis, Increased circulating antibody level, Rhe... ORPHA:48104
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Diarrhea 5, With Tufting Enteropathy, Congenital
Intractable diarrhea, Villous atrophy, Arthritis OMIM:613217
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocytopenia OMIM:611490
Nail-Patella Syndrome
Abnormality of the knee, Morphological abnormality of the gastrointestinal tract, Cubitus valgus,... ORPHA:2614
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Colitis, Perioral eczema, Recurrent aphthous stomatitis, Diarrhea, Recurrent sinusitis OMIM:613960
Erythrocytosis, Familial, 1
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly OMIM:133100
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
B lymphocytopenia, Neutropenia, Leukopenia, Partial absence of specific antibody response to Haem... OMIM:618986
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Familial Calcium Pyrophosphate Deposition
Chondrocalcinosis, Joint dislocation, Arthritis, Limitation of joint mobility, Osteoarthritis, Jo... ORPHA:1416
Anti-Glomerular Basement Membrane Disease
Hematuria, Anemia, Arthritis, Glomerulopathy, Proteinuria, Renal insufficiency ORPHA:375
Porphyria Cutanea Tarda
Abnormal erythrocyte enzyme level, Hepatocellular carcinoma, Elevated hepatic iron concentration,... ORPHA:101330
Albers-Schönberg Osteopetrosis
Generalized osteosclerosis, Anemia, Arthritis, Joint dislocation, Osteomyelitis, Genu valgum, Man... ORPHA:53
Lichen Planopilaris
Hyperkeratosis, Abnormal intestine morphology, Hepatitis, Pterygium ORPHA:525
Muckle-Wells Syndrome
Hepatomegaly, Episcleritis, Nephrotic syndrome, Anemia, Arthritis, Splenomegaly, Uveitis, Skin ra... ORPHA:575
Hereditary Xanthinuria
Reduced xanthine dehydrogenase level, Hydronephrosis, Decreased urinary urate, Aldehyde oxidase d... ORPHA:3467
Brain abscess, Myocarditis, Sinusitis, Colon perforation, Neutropenia, Fasciitis, Hepatitis, Mele... ORPHA:73263
Junctional Epidermolysis Bullosa Inversa
Gastrointestinal inflammation ORPHA:79405
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Giant cell hepatitis, Cholelithiasis, Camptodactyly of finger, Jaundice OMIM:214980
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Hypochromia, Erythroid hyperplasia, Elevated hepatic iron concentration, Anemia, Sp... OMIM:616860
Galactose Epimerase Deficiency
Hepatomegaly, Nausea and vomiting, Feeding difficulties, Splenomegaly, Jaundice ORPHA:79238
Simple Cryoglobulinemia
Chronic lymphatic leukemia, Pericarditis, Nephrotic syndrome, Nephritis, Arthritis, Mesangial hyp... ORPHA:91139
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Psoriasiform dermatitis, Interface hepatitis, Hypoplasia of the thymus, Intestinal malrotation, I... OMIM:243150
Immunodeficiency 82 With Systemic Inflammation
Duodenal ulcer, Lymphadenopathy, Hepatitis, Splenomegaly, Gastritis, Crohn's disease, Decreased c... OMIM:619381
Elliptocytosis 1
Jaundice, Hemolytic anemia, Elliptocytosis, Splenomegaly OMIM:611804
Abdominal distention, Ulcerative colitis, Hematochezia, Enterocolitis OMIM:226150
Lymphoproliferative Syndrome 1
Hepatomegaly, Leukopenia, Stomatitis, Lymphadenopathy, Decreased circulating IgG level, Decreased... OMIM:613011
Osteoarthritis Susceptibility 2
Osteoarthritis, Heberden's node OMIM:140600
Amoebiasis Due To Entamoeba Histolytica
Leukocytosis, Constrictive pericarditis, Bloody diarrhea, Lung abscess, Protracted diarrhea, Gast... ORPHA:67
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Anemia, Hepatomegaly, Splenomegaly OMIM:615085
Niemann-Pick Disease, Type B
Hepatomegaly, Bone-marrow foam cells, Sea-blue histiocytosis, Splenomegaly OMIM:607616
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis OMIM:271500
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Cholangitis, Abnormal intestine morphology, Neutropenia in presence of anti-neutropil antibodies,... ORPHA:228426
Bullous Impetigo
Glomerulopathy, Recurrent bacterial skin infections, Pustule, Septic arthritis ORPHA:36237
Primary Sclerosing Cholangitis
Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatitis, Splenomegaly, Hepatosplenomegaly, Uve... ORPHA:171
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Abnormality of the intrahepatic bile duct, Inflammation of the large intestine, Interface hepatit... ORPHA:562639
Coproporphyria, Hereditary
Hepatomegaly, Vomiting, Increased fecal coproporphyrin 3, Splenomegaly, Diarrhea, Abdominal pain,... OMIM:121300
Myasthenia Gravis
Dysphagia, Myositis, Hepatitis, Pure red cell aplasia, Glycosuria, Rheumatoid arthritis, Hashimot... ORPHA:589
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Inflammation of the large intestine, Abnormal sacroiliac joint morpholog... ORPHA:324964
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Malabsorption, Splenomegaly, Cirrhosis, Gastrointestinal hemorrhage, Neonatal chole... ORPHA:79301
Epiphyseal Dysplasia, Multiple, 3
Abnormal hip joint morphology, Limited knee extension, Delayed epiphyseal ossification, Limited e... OMIM:600969
Thymic Aplasia
Sinusitis, Eczematoid dermatitis, Recurrent infection of the gastrointestinal tract, Decreased pr... ORPHA:83471
Macrocephaly/Autism Syndrome
Hepatomegaly, Decreased circulating antibody level, Lymphopenia, Splenomegaly OMIM:605309
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Arthritis, Conjunctivitis OMIM:617772
Immunodeficiency 32B
Sinusitis, Bronchiectasis, Pneumonia, Splenomegaly OMIM:226990
Osteoarthritis With Mild Chondrodysplasia
Joint stiffness, Knee osteoarthritis, Heberden's node, Hip osteoarthritis OMIM:604864
Complement Factor I Deficiency
Sinusitis, Recurrent otitis media, Pyelonephritis, Arthritis, Recurrent urinary tract infections,... OMIM:610984
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Hepatocellular carcinoma, Anemia, Splenomegaly, Acute ... ORPHA:158057
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Atopic dermatitis, Cholangitis, Psoriasiform dermatitis, Allergic rhinitis, Pneumonia, Bronchiect... ORPHA:183675
Galactosemia Iii
Jaundice, Hepatomegaly, Vomiting, Splenomegaly OMIM:230350
Iga Pemphigus
Pustule, Increased circulating IgA level, Neutrophilic infiltration of the skin, Monoclonal eleva... ORPHA:555905
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Giant cell hepatitis, Nephrocalcinosis, Renal tubular acidosis, Arthrogryposis multiplex congenit... OMIM:208085
Wolman Disease
Hepatomegaly, Nausea and vomiting, Esophageal varix, Ascites, Abdominal distention, Bone-marrow f... ORPHA:75233
Mucopolysaccharidosis-Plus Syndrome
Renal tubular atrophy, Hepatomegaly, Focal segmental glomerulosclerosis, Neutropenia, Leukopenia,... OMIM:617303
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Splenomegaly, Chronic hemolytic anemia, Cholecystitis, Reticulocytosis, Jaundice OMIM:266200
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Anemia, Splenomegaly, Hypersplenism, Thrombocytopenia OMIM:610539
Q Fever
Myocarditis, Hepatomegaly, Anorexia, Pericarditis, Infectious encephalitis, Pneumonia, Endocardit... ORPHA:781
Indolent Systemic Mastocytosis
Hepatomegaly, Abdominal cramps, Lymphadenopathy, Abnormal mast cell morphology, Splenomegaly, Ski... ORPHA:98848
Familial Avascular Necrosis Of Femoral Head
Limited hip movement, Hip osteoarthritis ORPHA:86820
Glycogen Storage Disease Vii
Gout, Exercise-induced myoglobinuria, Cholelithiasis, Reticulocytosis, Reduced erythrocyte 2,3-di... OMIM:232800
Pancytopenia, Pneumonia, Chronic kidney disease, Hematuria, Hepatitis, Arthritis, Autoimmune thro... ORPHA:1855
Hepatomegaly, Anorexia, Leukopenia, Lymphadenopathy, Rhinitis, Anemia, Splenomegaly, Abnormal mac... ORPHA:507
Eczema, Abnormality of the knee, Arthritis, Joint stiffness, Osteoarthritis, Joint swelling ORPHA:1525
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Chondrocalcinosis 1
Osteoarthritis, Chondrocalcinosis OMIM:600668
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Sinusitis, B lymphocytopenia, Hepatomegaly, Pneumonia, Decreased circulating IgA level, Reduced r... OMIM:102700
Aicardi-Goutieres Syndrome 7
Atopic dermatitis, Hepatomegaly, Feeding difficulties, Splenomegaly, Increased circulating antibo... OMIM:615846
Periodic Fever, Familial, Autosomal Dominant
Polyarticular arthritis, Chronic constipation, Hepatomegaly, Vomiting, Myositis, Oligoarthritis, ... OMIM:142680
Sepsis In Premature Infants
Leukocytosis, Hepatomegaly, Increased circulating interleukin 6, Neutropenia, Vomiting, Functiona... ORPHA:90051
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Feeding difficulties in infancy, Hepatitis, Gastrostomy tube feeding in infancy, Sp... OMIM:613385
Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly, Reticulocytosis, Hemolytic anemia OMIM:618892
Limited hip extension, Genu varum, Increased laxity of ankles, Irregular acetabular roof, Irregul... ORPHA:750
Brain abscess, Myocarditis, Septic arthritis, Granulomatosis, Diarrhea, Abdominal pain, Conjuncti... ORPHA:533
Agammaglobulinemia, X-Linked
Sinusitis, Enteroviral hepatitis, Infectious encephalitis, Pyoderma, Pneumonia, Prostatitis, Epid... OMIM:300755
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Congenital Disorder Of Glycosylation, Type Iih
Elevated circulating aspartate aminotransferase concentration, Interface hepatitis, Elevated seru... OMIM:611182
Hemochromatosis, Type 4
Hepatomegaly, Anemia, Cirrhosis, Hepatic steatosis, Osteoarthritis OMIM:606069
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Increased phosphoribosylpyrophosphate synthetase level, Arthritis, Hyperuricosuria, Renal insuffi... ORPHA:411536
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Idiopathic Hypereosinophilic Syndrome
Cholangitis, Eczema, Feeding difficulties in infancy, Portal fibrosis, Abdominal distention, Sple... ORPHA:3260
Alport Syndrome 2, Autosomal Recessive
Glomerular basement membrane lamellation, Nephrotic syndrome, Hematuria, Nephritis, Stage 5 chron... OMIM:203780
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Diverticulosis, Small-Intestinal
Duodenal diverticula, Jejunal diverticula, Rheumatoid arthritis, Thyroiditis, Jejunoileal diverti... OMIM:223320
Slipped Femoral Capital Epiphyses
Hip osteoarthritis OMIM:182260
Ehlers-Danlos Syndrome, Hypermobility Type
Joint hypermobility, Osteoarthritis, Joint dislocation, Joint laxity OMIM:130020
Primary Biliary Cholangitis
Abnormality of the intrahepatic bile duct, Hepatic fibrosis, Celiac disease, Hepatocellular carci... ORPHA:186
Combined Saposin Deficiency
Hepatomegaly, Feeding difficulties, Splenomegaly OMIM:611721
Hemochromatosis, Type 2A
Cirrhosis, Hepatomegaly, Arthritis, Splenomegaly OMIM:602390
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Anorexia, Splenomegaly ORPHA:86893
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Myocarditis, Nausea and vomiting, Dysphagia, Tubulointerstitial nephritis, Endocarditi... ORPHA:183
Secondary Short Bowel Syndrome
Aganglionic megacolon, Villous atrophy, Abnormality of the small intestine, Vomiting, Abdominal d... ORPHA:95427
Sapho Syndrome
Psoriasiform dermatitis, Inflammation of the large intestine, Pustule, Synovitis, Abnormal sacroi... ORPHA:793
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... OMIM:619374
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Malabsorption, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Erysipe... OMIM:214900
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Osteoarthritis, Hip osteoarthritis OMIM:271600
Peripheral Dysostosis
Joint stiffness, Osteoarthritis ORPHA:1795
Proteasome-Associated Autoinflammatory Syndrome 3
Sinusitis, Hepatomegaly, Myositis, Panniculitis, Anemia, Arthritis, Splenomegaly, Lymphopenia, Sk... OMIM:617591
Cholesteryl Ester Storage Disease
Hepatomegaly, Nausea and vomiting, Esophageal varix, Splenomegaly, Cirrhosis, Hepatic failure, Di... ORPHA:75234
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Eczema, Inflammation of the large int... OMIM:301000
Coronary Artery Disease, Autosomal Dominant 2
Osteoporosis, Gout OMIM:610947
Diffuse Cutaneous Mastocytosis
Abnormality of the spleen, Hepatomegaly, Erythroderma, Vomiting, Elevated total serum tryptase, A... ORPHA:79456
Erythrocytosis, Familial, 3
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:609820
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Sinusitis, Eczema, Inflammation... OMIM:600903
Sydenham Chorea
Septic arthritis, Endocarditis ORPHA:306731
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Malabsorption, Splenomegaly, Cholestasis, Jaundice ORPHA:172
Beukes Hip Dysplasia
Shallow acetabular fossae, Osteoarthritis OMIM:142669
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Leukocytosis, Bloody diarrhea, Rectal prolapse, Schistocytosis, Microangiopathic hemolytic anemia... ORPHA:90038
Immunodeficiency 58
Eczema, Allergic rhinitis, Decreased specific antibody response to vaccination, Dysphagia, Helico... OMIM:618131
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal serum interferon-gamma level, Hepatosplenomegaly, Abnormal serum interleukin level, Panc... ORPHA:79124
Aregenerative Anemia
Neutropenia, Abnormal proportion of CD8-positive T cells, Lymphadenopathy, Abnormality of interle... ORPHA:101096
Hypocomplementemic Urticarial Vasculitis
Nausea and vomiting, Hepatomegaly, Episcleritis, Hematuria, Joint dislocation, Arthritis, Splenom... ORPHA:36412
Hip Dysplasia, Beukes Type
Abnormality of bone mineral density, Abnormal bone ossification, Osteoarthritis, Abnormal ossific... ORPHA:2114
Mixed Connective Tissue Disease
Myocarditis, Keratoconjunctivitis sicca, Hepatomegaly, Pericarditis, Leukopenia, Myositis, Xerost... ORPHA:809
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent infection of the gastrointestinal tract, B lymphocytopenia, Impaired lymphocyte transfo... ORPHA:35078
Classic Mycosis Fungoides
Hepatomegaly, Eczema, Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Skin rash ORPHA:2584
Microscopic Polyangiitis
Sinusitis, Nausea and vomiting, Pericarditis, Episcleritis, Gastrointestinal infarctions, Periton... ORPHA:727
Recessive Dystrophic Epidermolysis Bullosa Inversa
Abnormality of the urinary system, Anemia, Esophageal stricture, Urethral stricture, Gastrointest... ORPHA:79409
Relapsing Polychondritis
Myocarditis, Pericarditis, Episcleritis, Chondritis of pinna, Chondritis, Hematuria, Hepatitis, A... ORPHA:728
Acute Monoblastic/Monocytic Leukemia
Leukocytosis, Anorexia, Ankle swelling, Anemia, Hypochromic anemia, Oliguria, Lymphocytosis, Incr... ORPHA:514
Autosomal Dominant Spastic Paraplegia Type 36
Urinary incontinence, Urinary urgency, Arthritis ORPHA:320365
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Hepatocellular carcinoma, Hepatic fibrosis, Feeding difficulties, ... ORPHA:231226
Wild Type Abeta2M Amyloidosis
Dysphagia, Abnormal intestine morphology, Intestinal pseudo-obstruction, Arthritis, Gastrointesti... ORPHA:85446
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, B lymphocytopenia, Eczema, Psoriasiform dermatitis, Erythroderma, Villous atrop... OMIM:606367
Gamma-Heavy Chain Disease
Neoplasm of the tongue, Hepatomegaly, Dysphagia, Lymphadenopathy, Abnormal lymphocyte morphology,... ORPHA:100026
Hemochromatosis, Type 2B
Hepatomegaly, Hepatic fibrosis, Anemia, Splenomegaly, Cirrhosis OMIM:613313
Systemic Lupus Erythematosus, Susceptibility To, 6
Pericarditis, Abnormal renal physiology, Arthritis, Malar rash, Abnormality of the kidney OMIM:609939
Myocarditis, Knee osteoarthritis, Septic arthritis, Splenomegaly, Hypersplenism, Abnormality of h... ORPHA:1304
Kawasaki Disease
Myocarditis, Leukocytosis, Nausea and vomiting, Pericarditis, Sterile pyuria, Cheilitis, Hepatiti... ORPHA:2331
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Hydronephrosis, Vomiting, Increased hepatic glycogen content, Elevated hepatic tran... OMIM:614921
Hyper-Igd Syndrome
Leukocytosis, Vomiting, Lymphadenitis, Chronic oral candidiasis, Arthritis, Splenomegaly, Chronic... OMIM:260920
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Allergic rhinitis, Anemia, Splenomegaly, Jaundice, Steatorrhea, Skin rash, Malnutri... OMIM:612714
Alport Syndrome 1, X-Linked
Glomerular basement membrane lamellation, Nephrotic syndrome, Nephritis, Stage 5 chronic kidney d... OMIM:301050
Alport Syndrome
Renal tubular atrophy, Glomerular basement membrane lamellation, Focal segmental glomeruloscleros... ORPHA:63
Autoimmune Polyendocrine Syndrome, Type Ii
Asplenia, Iron deficiency anemia, Hepatitis, Chronic mucocutaneous candidiasis, Cirrhosis, Steato... OMIM:269200
Posterior Urethral Valve
Hydronephrosis, Urinary retention, Urethral stenosis, Congenital posterior urethral valve, Unilat... ORPHA:93110
Chronic Mucocutaneous Candidiasis
Feeding difficulties in infancy, Cheilitis, Hematuria, Hepatitis, Recurrent urinary tract infecti... ORPHA:1334
Yao Syndrome
Keratoconjunctivitis sicca, Inflammatory abnormality of the skin, Pericarditis, Xerostomia, Arthr... OMIM:617321
Gaucher Disease, Type Ii
Hepatomegaly, Dysphagia, Recurrent aspiration pneumonia, Feeding difficulties, Protuberant abdome... OMIM:230900
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Rat-Bite Fever
Myocarditis, Pericarditis, Pustule, Vomiting, Endocarditis, Lymphadenitis, Oligoarthritis, Anemia... ORPHA:31205
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Pancreatic hypoplasia, Hepatic fibrosis, Pancreatic cysts, Splenic cyst, Hepatitis,... OMIM:610199
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Prolonged neonatal jaundice, Heinz bodies, Splenomegaly, Fava bean-induced hemolyti... OMIM:300908
Nephronophthisis 19
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Splenomegaly, Cholestasis OMIM:616217
Brain abscess, Abnormality of the spleen, Sinusitis, Neutropenia, Lung abscess, Pneumonia, Bronch... ORPHA:228119
Primary Myelofibrosis
Leukocytosis, Thrombocytosis, Hepatomegaly, Anorexia, Lymphadenopathy, Anemia, Splenomegaly, Hepa... ORPHA:824
Sea-Blue Histiocytosis
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Thrombocytopenia, Blepharitis, Sea-blue ... ORPHA:158029
Inflammatory Bowel Disease 11
Diarrhea, Inflammation of the large intestine, Abdominal pain, Hematochezia OMIM:191390
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Inflammation of the large intestine, Esophageal varix, Decreased specific anti-poly... OMIM:614576
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Autosomal Dominant Polycystic Kidney Disease
Pancreatic cysts, Decreased glomerular filtration rate, Hematuria, Pyelonephritis, Renal cyst, Ne... ORPHA:730
Paget Disease Of Bone 6
Recurrent fractures, Osteoarthritis, Elevated circulating alkaline phosphatase concentration, Nep... OMIM:616833
Budd-Chiari Syndrome
Hepatomegaly, Gastrointestinal infarctions, Esophageal varix, Ascites, Peritonitis, Malabsorption... ORPHA:131
Severe Hemophilia A
Macroscopic hematuria, Limb joint contracture, Synovitis, Joint hemorrhage, Anemia, Gastrointesti... ORPHA:169802
Nk-Cell Enteropathy
Intestinal polyp, Duodenal ulcer, Gastric ulcer, Abnormal gastric mucosa morphology, Constipation... ORPHA:263665
Spastic Paraplegia 84, Autosomal Recessive
Ankle flexion contracture, Urinary urgency, Hip contracture, Knee flexion contracture, Crohn's di... OMIM:619621
Primary Sjögren Syndrome
Tubulointerstitial nephritis, Normochromic anemia, Parotitis, Optic neuritis, Arteritis, Lymphope... ORPHA:289390
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Hepatomegaly, Nausea and vomiting, Acute leukemia, Lymphadenopathy, Chronic otitis ... ORPHA:3226
Nephronophthisis 18
Renal tubular atrophy, Tubulointerstitial nephritis, Portal fibrosis, Nephronophthisis, Stage 5 c... OMIM:615862
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Genu varum, Abnormality of the knee, Abnormality of the epiphyses of the elbow, Genu valgum, Abno... ORPHA:166002
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Congenital bilateral hip dislocation, Increased susceptibility to fractures, Osteopenia, Joint su... OMIM:130060
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Crescentic glomerulonephritis, Arthritis, Mesangial hypercellularity OMIM:616414
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Osteochondritis Dissecans, Osteoarthritis, Hip osteoarthritis OMIM:165800
Syndromic Diarrhea
Thrombocytosis, Hepatomegaly, Increased mean platelet volume, Villous atrophy, Hepatic fibrosis, ... ORPHA:84064
Immunodeficiency 89 And Autoimmunity
Crohn's disease, Decreased eosinophil count, Hypochromic microcytic anemia, Bronchiectasis OMIM:619632
Gaucher Disease Type 1
Hepatomegaly, Anorexia, Leukopenia, Biliary tract obstruction, Hematuria, Anemia, Splenomegaly, P... ORPHA:77259
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Feeding difficulties, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia OMIM:610333
Lactose intolerance, Eczema, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, C... ORPHA:443811
Xanthinuria, Type I
Hydronephrosis, Xanthine nephrolithiasis, Pyelonephritis, Reduced xanthine dehydrogenase level, X... OMIM:278300
Hepatomegaly, Nausea and vomiting, Anorexia, Leukopenia, Splenomegaly, Hepatic failure, Thrombocy... ORPHA:108
Joint stiffness, Increased bone mineral density, Arthritis, Ectopic ossification in muscle tissue ORPHA:2485
Osteoarthritis Susceptibility 1
Hip osteoarthritis OMIM:165720
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Leukocytosis, Thrombocytosis, Bloody diarrhea, Increased circulating IgG level, Hypochromic anemi... OMIM:618213
Late-Onset Isolated Acth Deficiency
Macrocytic anemia, Nausea and vomiting, Anorexia, Normocytic anemia, Generalized bone demineraliz... ORPHA:199299
Renal Dysplasia
Abnormal renal calyx morphology, Chronic kidney disease, Abdominal pain, Abnormal nephron morphol... ORPHA:93108
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Iron deficiency anemia, Splenomegaly, Portal hyp... OMIM:616278
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Nausea and vomiting, Anorexia, Neutropenia, Feeding difficulties, Anemia, Pancreati... ORPHA:79312
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic fibrosis, Hepatic failure, Splenomegaly OMIM:616719
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Leukocytosis, Pericarditis, Vomiting, Peritonitis, Myositis, Abnormal sacroiliac joint morphology... ORPHA:32960
Alport Syndrome 3, Autosomal Dominant
Glomerular basement membrane lamellation, Nephrotic syndrome, Nephrocalcinosis, Hematuria, Nephri... OMIM:104200
Combined Oxidative Phosphorylation Deficiency 53
Hepatomegaly, Hypochromic microcytic anemia, Abdominal distention, Arthritis, Septic arthritis, O... OMIM:619423
Peripheral Dysostosis
Hip osteoarthritis OMIM:170700
Hereditary Amyloidosis With Primary Renal Involvement
Tubulointerstitial nephritis, Decreased glomerular filtration rate, Tubulointerstitial fibrosis, ... ORPHA:85450
Amyloidosis, Familial Visceral
Hepatomegaly, Cholestasis, Skin rash, Splenomegaly OMIM:105200
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Increased phosphoribosylpyrophosphate synthetase level, Gout, Arthritis, Hyperuricosuria, Acute k... ORPHA:411543
Epiphyseal Dysplasia, Multiple, 1
Hip osteoarthritis, Generalized joint laxity, Delayed epiphyseal ossification, Genu valgum, Limit... OMIM:132400
Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Anorexia, Splenomegaly ORPHA:98293
Poikiloderma With Neutropenia
Neutropenia, Recurrent otitis media, Splenomegaly, Recurrent pneumonia, Blepharitis, Recurrent si... OMIM:604173
Progressive Osseous Heteroplasia
Osteoarthritis, Ectopic ossification in muscle tissue, Limitation of joint mobility ORPHA:2762
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatomegaly, Protein avoidance, Acute hepatitis, Decreased liver function, Episodic vomiting OMIM:238970
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Hepatic cysts, Decreased glomerular filtration rate, Gout, Stage 5 chronic kidney disease, Renal ... OMIM:618061
Familial Mediterranean Fever
Splenomegaly, Nephropathy, Diarrhea, Abdominal pain, Nausea and vomiting, Pericarditis, Nephrotic... ORPHA:342
Takayasu Arteritis
Anorexia, Gastrointestinal infarctions, Anemia, Arthritis, Increased inflammatory response, Infla... ORPHA:3287
Vexas Syndrome
Inflammatory abnormality of the skin, Macrocytic anemia, Nasal chondritis, Chondritis of pinna, N... OMIM:301054
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Unilateral renal atrophy, Renal dysplasia, Nephritis, Pyelonephritis OMIM:314300
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Renal hypoplasia, Tubulointerstitial nephritis, Renal cortical atrophy, De... OMIM:174000
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Esophageal varix, Ascites, Hepatocellular carcinoma, Nodular regenerative hyperplas... OMIM:619463
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome
Osteoarthritis ORPHA:435804
Lysosomal Acid Lipase Deficiency
Esophageal varix, Bone-marrow foam cells, Splenomegaly, Hypersplenism, Hepatosplenomegaly, Steato... OMIM:278000
Hepatoportal Sclerosis
Esophageal varix, Leukopenia, Hepatocellular carcinoma, Ascites, Anemia, Nodular regenerative hyp... ORPHA:64743
Hereditary Spherocytosis
Hepatomegaly, Abdominal distention, Anemia, Gout, Cholelithiasis, Splenomegaly, Extramedullary he... ORPHA:822
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Portal fibrosis, Bile duct proliferation, Malabsorption, Splenomegaly, Cirrhosis, I... OMIM:602347
Epiphyseal Dysplasia, Multiple, 6
Osteoarthritis, Abnormality of the knee OMIM:614135
Congenital Bile Acid Synthesis Defect Type 4
Giant cell hepatitis, Cholelithiasis, Cholestatic liver disease, Abnormal enzyme/coenzyme activit... ORPHA:79095
Omenn Syndrome
Leukocytosis, Hepatomegaly, Erythroderma, Pneumonia, Lymphadenopathy, Abnormal lymphocyte morphol... ORPHA:39041
Psoriasis 1, Susceptibility To
Psoriasiform dermatitis, Arthritis OMIM:177900
Generalized joint laxity, Joint dislocation, Genu valgum, Enlarged joints, Osteoarthritis ORPHA:85198
Gaucher Disease Type 2
Hepatomegaly, Dysphagia, Splenomegaly ORPHA:77260
Rift Valley Fever
Anorexia, Infectious encephalitis, Hematuria, Hepatitis, Anemia, Melena, Uveitis, Skin rash, Elev... ORPHA:319251
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Atopic dermatitis, Lactose intolerance, Feeding difficulties in infancy, Allergic rhinitis, Dysph... ORPHA:411696
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic fibrosis, Splenomegaly, Cholestasis, Hepatic bridging fibrosis, Jaundice OMIM:619658
Alstrom Syndrome
Chronic active hepatitis, Hepatomegaly, Tubulointerstitial nephritis, Nephritis, Hepatic steatosi... OMIM:203800
Eczematoid dermatitis, Hepatomegaly, Genu varum, Seborrheic dermatitis, Osteoporosis, Anemia, Art... ORPHA:2796
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Macroscopic hematuria, Dysuria, Gout, Acute kidney injury, Uric acid nephrolithiasis, Nephropathy... ORPHA:79233
Sitosterolemia 1
Stomatocytosis, Episodic hemolytic anemia, Arthritis, Splenomegaly, Abnormality of the liver, Gia... OMIM:210250
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Abnormality of the peritoneum, Splenomegaly ORPHA:545
Cold Agglutinin Disease
Hepatomegaly, Nausea and vomiting, Lymphadenopathy, Splenomegaly, Diarrhea, Hemolytic anemia ORPHA:56425
Ornithine Transcarbamylase Deficiency
Pyloric stenosis, Hepatic failure, Splenomegaly ORPHA:664
Interstitial Nephritis, Karyomegalic
Tubulointerstitial nephritis, Nephronophthisis, Hematuria, Stage 5 chronic kidney disease, Glycos... OMIM:614817
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Tubulointerstitial nephritis, Methylmalonic aciduria, Leukopenia, Vomiting, Pancrea... OMIM:251000
Spondyloepiphyseal Dysplasia, Kimberley Type
Osteoarthritis ORPHA:93283
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Eczema, Esophageal varix, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Portal hypertension, Ab... OMIM:615688
Dyschondrosteosis And Nephritis
Nephritis, Madelung deformity OMIM:127350
Autoinflammation With Arthritis And Dyskeratosis
Keratoconjunctivitis sicca, Hepatomegaly, Increased circulating IgA level, Increased circulating ... OMIM:617388
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Hardikar Syndrome
Cholangitis, Esophageal varix, Intrahepatic bile duct cysts, Splenomegaly, Hepatosplenomegaly, Hy... OMIM:301068
Angel-Shaped Phalango-Epiphysea