Gene: Bcr MGI:88141

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

BCR activator of RhoGEF and GTPase

Synonyms:

breakpoint cluster region, 5133400C09Rik

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Bcr mutations

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

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

Human diseases associated with Bcr (4 diseases)
Human diseases predicted to be associated with Bcr (664 diseases)

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

Disease	Matching phenotypes	Source
Chronic Myeloid Leukemia	Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo...	ORPHA:521
Distal 22Q11.2 Microdeletion Syndrome	High, narrow palate, Cleft palate, Recurrent urinary tract infections, Pyloric stenosis, Ankylogl...	ORPHA:261330
Leukemia, Acute Lymphoblastic	Acute lymphoblastic leukemia	OMIM:613065
Leukemia, Chronic Myeloid	Ph-positive acute lymphoblastic leukemia, Chronic myelogenous leukemia	OMIM:608232

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

Disease	Matching phenotypes	Source
Reticular Dysgenesis	Failure to thrive, Malabsorption, Skin rash, Dehydration, Leukopenia, Sepsis, Chronic otitis medi...	ORPHA:33355
Secondary Intestinal Lymphangiectasia	Decreased prealbumin level, Malabsorption, Decreased circulating IgA level, Intussusception, Decr...	ORPHA:90363
Immunodeficiency 102	Hepatomegaly, Partial absence of specific antibody response to unconjugated pneumococcus vaccine,...	OMIM:301082
Isolated Agammaglobulinemia	Failure to thrive, Malabsorption, Sinusitis, Skin rash, Otitis media, Sepsis, Abnormal lymphocyte...	ORPHA:229717
Immunodeficiency 46	Failure to thrive, Chronic oral candidiasis, Sepsis, Intermittent thrombocytopenia, Decreased cir...	OMIM:616740
X-Linked Agammaglobulinemia	Failure to thrive, Malabsorption, Hypocalcemia, Osteomyelitis, Sinusitis, Skin rash, Glossoptosis...	ORPHA:47
Autosomal Agammaglobulinemia	High palate, Failure to thrive, Malabsorption, Osteomyelitis, Sinusitis, Skin rash, Recurrent ski...	ORPHA:33110
Specific Granule Deficiency 1	Absent neutrophil lactoferrin, Recurrent bacterial infections, Hyposegmentation of neutrophil nuc...	OMIM:245480
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Renal tubular dysfunction, Pancreatitis, Hepatomegaly, Hyperammonemia, Sepsis, Renal insufficienc...	ORPHA:289916
Reticular Dysgenesis	Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Leukopenia, Congenital agranulocy...	OMIM:267500
Congenital Enterovirus Infection	Leukocytosis, Hyperammonemia, Skin rash, Hepatic failure, Leukopenia, Hydrops fetalis, Sepsis, My...	ORPHA:292
Galactose Mutarotase Deficiency	Decreased liver function, Failure to thrive, Hepatomegaly, Sepsis, Hypergalactosemia, Cholestasis	ORPHA:570422
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Recurrent gastroenteritis, Gastritis, Eczema, Sepsis, Decreased prealbumin level, Pneumonia, Fail...	ORPHA:37042
Secondary Short Bowel Syndrome	Failure to thrive, Malabsorption, Enterocolitis, Intestinal atresia, Steatorrhea, Small intestina...	ORPHA:95427
Hepatoportal Sclerosis	Intrahepatic portal vein sclerosis, Esophageal varix, Gastrointestinal hemorrhage, Jaundice, Hype...	ORPHA:64743
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Crohn's disease, Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, H...	OMIM:616100
Pgm3-Cdg	High palate, Abnormal proportion of CD8-positive T cells, Eczema, Sepsis, Chronic sinusitis, Bone...	ORPHA:443811
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Hepatomegaly, Sepsis, Recurrent opportunistic infections, Pneumonia, Recurrent Haemophilus influe...	ORPHA:276
Heme Oxygenase 1 Deficiency	Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati...	OMIM:614034
Felty Syndrome	Hepatomegaly, Sepsis, Bone marrow hypocellularity, Pericarditis, Rhinitis, Weight loss, Splenomeg...	ORPHA:47612
Thymic Aplasia	Recurrent streptococcus pneumoniae infections, Recurrent infection of the gastrointestinal tract,...	ORPHA:83471
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Erythroderma, Recurrent viral infections, Increased circulating antibody level, Increased circula...	ORPHA:169154
Immunodeficiency, Common Variable, 8, With Autoimmunity	Sepsis, B lymphocytopenia, Decreased specific antibody response to vaccination, Uveitis, Pneumoni...	OMIM:614700
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Ulcerative colitis	OMIM:619398
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Recurrent otitis media, Neutropenia, Lymphopenia, Decreased circulating IgG level, Partial absenc...	OMIM:618986
Alg1-Cdg	Decreased liver function, Nephrotic syndrome, Sepsis, Abnormality of the gastrointestinal tract, ...	ORPHA:79327
Nphp3-Related Meckel-Like Syndrome	Abnormal biliary tract morphology, Intestinal malrotation, Multicystic kidney dysplasia, Abnormal...	ORPHA:3032
Omenn Syndrome	Failure to thrive, Nephrotic syndrome, Hepatomegaly, Leukocytosis, Splenomegaly, Eosinophilia, Se...	ORPHA:39041
Lymphoproliferative Syndrome 2	Hepatomegaly, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Sepsis, Aplastic anemia, EBV en...	OMIM:615122
Eosinophilic Gastroenteritis	Malabsorption, Elevated circulating C-reactive protein concentration, Leukocytosis, Steatorrhea, ...	ORPHA:2070
Drug-Induced Lupus Erythematosus	Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Elevated ci...	ORPHA:231111
Immunodeficiency With Hyper-Igm, Type 1	Hepatomegaly, Impaired memory B cell generation, Sepsis, Decreased circulating IgE, Decreased cir...	OMIM:308230
Caroli Syndrome	Melena, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Hepatic failure, Sepsis, Esophageal varix...	ORPHA:480520
Galactosemia	Failure to thrive, Hepatomegaly, Hepatic failure, Cirrhosis, Increased level of galactitol in pla...	ORPHA:352
Idiopathic Achalasia	Gastroesophageal reflux, Decreased prealbumin level, Recurrent aspiration pneumonia, Dysphagia, W...	ORPHA:930
Bacterial Toxic-Shock Syndrome	Sepsis, Abscess, Myocarditis, Elevated circulating creatinine concentration, Pneumonia, Septic ar...	ORPHA:36234
Neutrophil Immunodeficiency Syndrome	Abnormality of neutrophil physiology, Leukocytosis	ORPHA:183707
Neonatal Alloimmune Neutropenia	Sepsis, Neutropenia in presence of anti-neutropil antibodies, Jaundice, Pneumonia	ORPHA:464370
Specific Granule Deficiency 2	Failure to thrive, Recurrent otitis media, Sepsis, Recurrent bacterial infections, Recurrent pneu...	OMIM:617475
Shwachman-Diamond Syndrome	Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Eczema, Sepsis, Aplastic anemia, Ma...	ORPHA:811
Shigellosis	Hepatic failure, Urethritis, Sepsis, Abscess, Myocarditis, Cholestasis, Uveitis, Pneumonia, Micro...	ORPHA:810
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Recurrent skin infections...	OMIM:612840
Chronic Granulomatous Disease	Malabsorption, Sinusitis, Hepatomegaly, Splenomegaly, Otitis media, Tracheoesophageal fistula, Ec...	ORPHA:379
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Sepsis, Enlarged kidney, Proteinuria, Bone marrow hypocellularity, Nephrotic syndro...	OMIM:617303
Selective Igm Deficiency	Keratitis, Onychomycosis, Recurrent infection of the gastrointestinal tract, Stomach cancer, Otit...	ORPHA:331235
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Crohn's disease, Onychomycosis, Nephrotic syndrome, Lymphopenia, Splenomegaly, Recurrent tonsilli...	OMIM:618935
Avian Influenza	Elevated circulating C-reactive protein concentration, Lymphopenia, Leukopenia, Elevated circulat...	ORPHA:454836
Mirage Syndrome	Decreased body weight, Gastroesophageal reflux, Lymphopenia, Aspiration pneumonia, Hypospadias, L...	OMIM:617053
Cyclic Neutropenia	Periodontitis, Sinusitis, Lymphopenia, Enterocolitis, Otitis media, Recurrent skin infections, Re...	ORPHA:2686
Hirschsprung Disease	Sepsis, Failure to thrive in infancy, Intestinal obstruction, Intestinal polyposis, Weight loss, ...	ORPHA:388
Interstitial Nephritis, Karyomegalic	Increased blood urea nitrogen, Nephronophthisis, Glycosuria, Hematuria, Elevated hepatic transami...	OMIM:614817
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgA level, Neutropenia, Decreased circulating IgG level, Decreased circulat...	OMIM:613502
Citrullinemia, Type Ii, Adult-Onset	Pancreatitis, Hyperammonemia, Hyperargininemia, Hepatocellular carcinoma, Hepatic steatosis, Argi...	OMIM:603471
Granulomatous disease with defect in neutrophil chemotaxis	Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci	OMIM:233670
Neutropenia, Severe Congenital, 4, Autosomal Recessive	High palate, Hepatomegaly, Cleft palate, Otitis media, Sepsis, Splenomegaly, Recurrent urinary tr...	OMIM:612541
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Rheumatoid arthritis, Sepsis, Epididymitis, Chronic sinusitis, Pneumonia, Decr...	ORPHA:183675
Staphylococcal Necrotizing Pneumonia	Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Pleural empyem...	ORPHA:36238
Angioedema, Hereditary, 3	Intestinal edema, Pharyngeal edema, Facial edema, Angioedema	OMIM:610618
Agammaglobulinemia, X-Linked	Enteroviral hepatitis, Sepsis, B lymphocytopenia, Epididymitis, Decreased circulating IgE, Septic...	OMIM:300755
Immunodeficiency 87 And Autoimmunity	Elevated circulating C-reactive protein concentration, Hepatomegaly, Cleft palate, Hepatic failur...	OMIM:619573
Cog4-Cdg	Recurrent infection of the gastrointestinal tract, Cirrhosis, Hepatosplenomegaly, Recurrent upper...	ORPHA:263501
Immunodeficiency 66	Sepsis, Defective T cell proliferation, Pustule, Recurrent skin infections	OMIM:618847
Alpha-Heavy Chain Disease	Malabsorption, Hypocalcemia, Hepatomegaly, Splenomegaly, Abnormality of the small intestine, Dysg...	ORPHA:100025
Carcinoma Of Esophagus	Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus, Weight loss, Dysphagia, Obesity,...	ORPHA:70482
Immunodeficiency 27A	Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Increased circulating IgG level, T...	OMIM:209950
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, Interstitial pneumonitis, Sep...	ORPHA:231154
Congenital Disorder Of Glycosylation, Type Iic	Periodontitis, Neutrophilia, Bronchiolitis, Pneumonia, Recurrent otitis media, Reduction of neutr...	OMIM:266265
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Failure to thrive, Lymphopenia, Hepatomegaly, Aplasia of the thymus, Splenomegaly, Abnormally low...	OMIM:602450
Immunodeficiency 59 And Hypoglycemia	High palate, Malabsorption, Hepatomegaly, Herpes simplex encephalitis, Recurrent skin infections,...	OMIM:233600
Bare Lymphocyte Syndrome, Type Ii	Recurrent protozoan infections, Failure to thrive, Malabsorption, Colitis, Viral hepatitis, Recur...	OMIM:209920
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Abnormality of the hepatic vasculature, Skin rash, Macular edema, Sepsis, Normocytic anemia, Neph...	ORPHA:247691
Desmoid Tumor	Malabsorption, Desmoid tumors, Sepsis, Intestinal obstruction, Intestinal polyposis, Hydronephros...	ORPHA:873
Agammaglobulinemia 3, Autosomal Recessive	Failure to thrive, Neutropenia, Recurrent bacterial infections, Recurrent bronchitis, Recurrent o...	OMIM:613501
Legionnaires Disease	Pancreatitis, Lymphopenia, Splenomegaly, Sepsis, Endocarditis, Hematuria, Myocarditis, Bone marro...	ORPHA:549
Sepsis In Premature Infants	Decreased liver function, Decreased body weight, Elevated circulating C-reactive protein concentr...	ORPHA:90051
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Failure to thrive, Neutropenia, Recurrent bacterial infections, Recurrent otitis media, Recurrent...	OMIM:616022
Immunodeficiency 69	Increased circulating ferritin concentration, Failure to thrive, Leukocytosis, Splenomegaly, Skin...	OMIM:618963
Refractory Celiac Disease	Malabsorption, Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Inflammatory abno...	ORPHA:398063
Acquired Purpura Fulminans	Elevated circulating C-reactive protein concentration, Skin rash, Hepatic failure, Sepsis, Thromb...	ORPHA:49566
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Increased circulating antibody level, Failure to thrive, Hepatomegaly, Splenomegaly, Extramedulla...	OMIM:615285
Immunodeficiency 68	Recurrent skin infections, Lymphadenitis, Abscess, Sepsis, B lymphocytopenia, T lymphocytopenia, ...	OMIM:612260
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Osteomyelitis, He...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Osteomyelitis, He...	OMIM:233710
Mantle Cell Lymphoma	Weight loss, Abnormality of the gastrointestinal tract, Splenomegaly	ORPHA:52416
Porphyria Cutanea Tarda	Increased circulating ferritin concentration, Recurrent bacterial skin infections, Viral hepatiti...	ORPHA:101330
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent protozoan infections, Recurrent infection of the gastrointestinal tract, Chronic hepati...	ORPHA:572
Hemophagocytic Lymphohistiocytosis, Familial, 4	Increased circulating ferritin concentration, Hepatomegaly, Jaundice, Hemophagocytosis, Splenomeg...	OMIM:603552
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Proteinu...	OMIM:612922
Acute Lung Injury	Increased circulating surfactant protein level, Elevated circulating C-reactive protein concentra...	ORPHA:178320
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Proteinu...	OMIM:612925
Late-Onset Isolated Acth Deficiency	Failure to thrive, Eosinophilia, Sepsis, Normocytic anemia, Macrocytic anemia, Hepatitis, Hashimo...	ORPHA:199299
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Osteomyelitis, He...	OMIM:233690
Igg4-Related Retroperitoneal Fibrosis	Elevated circulating C-reactive protein concentration, Rheumatoid arthritis, Hematuria, Elevated ...	ORPHA:49041
Pyomyositis	Leukocytosis, Sepsis, Myositis, Renal insufficiency, Recurrent infections, Weight loss, Recurrent...	ORPHA:764
Immunodeficiency 91 And Hyperinflammation	Failure to thrive, Nephrotic syndrome, Elevated circulating C-reactive protein concentration, Neu...	OMIM:619644
Immunodeficiency 86	Increased circulating IgM level, Decreased circulating IgG level, Impaired oxidative burst	OMIM:619549
Toxic Epidermal Necrolysis	Dysuria, Malabsorption, Pancreatitis, Acute hepatic failure, Anemia, Tracheoesophageal fistula, S...	ORPHA:537
Bullous Impetigo	Recurrent bacterial skin infections, Sepsis, Pustule, Septic arthritis	ORPHA:36237
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Proteinu...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Proteinu...	OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Proteinu...	OMIM:612926
Necrotizing Enterocolitis	Leukocytosis, Small for gestational age, Peritonitis, Edema, Neutropenia, Hyponatremia, Thrombocy...	ORPHA:391673
Hereditary Angioedema Type 1	Intestinal edema, Pharyngeal edema, Facial edema, Abnormal soft palate morphology, Tongue edema, ...	ORPHA:100050
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Generalized edema, Weight loss, Decreased circulating IgA level, Decreased c...	ORPHA:90362
Combined Immunodeficiency Due To Crac Channel Dysfunction	Recurrent mycobacterial infections, Recurrent fungal infections, Hepatomegaly, Splenomegaly, Seps...	ORPHA:169090
Chédiak-Higashi Syndrome	Increased circulating ferritin concentration, Hemophagocytosis, Increased proportion of CD25+ mas...	ORPHA:167
Autoinflammation, Immune Dysregulation, And Eosinophilia	Failure to thrive, Nephrotic syndrome, Eosinophilic liver infiltration, Atopic dermatitis, Eosino...	OMIM:618999
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Failure to thrive, Severe B lymphocytopenia, Sepsis, Autoimmune thrombocytopenia, Recurrent upper...	ORPHA:293978
Angioedema, Hereditary, 1	Intestinal edema, Pharyngeal edema, Angioedema, Laryngeal edema, Periorbital edema	OMIM:106100
Alg12-Cdg	Sepsis, B lymphocytopenia, Complete or near-complete absence of specific antibody response to tet...	ORPHA:79324
Majeed Syndrome	Failure to thrive, Malabsorption, Osteomyelitis, Inflammatory abnormality of the skin, Pustule, L...	ORPHA:77297
Whim Syndrome	Sinusitis, Lymphopenia, Otitis media, Lymphadenitis, Sepsis, Recurrent bacterial infections, Seve...	ORPHA:51636
Autoinflammation With Infantile Enterocolitis	Increased circulating ferritin concentration, Failure to thrive, Elevated circulating C-reactive ...	OMIM:616050
Thrombotic Thrombocytopenic Purpura, Hereditary	Increased blood urea nitrogen, Jaundice, Abnormal renal physiology, Schistocytosis, Elevated circ...	OMIM:274150
Ménétrier Disease	Abnormal gastric mucosa morphology, Gastroesophageal reflux, Multiple gastric polyps, Hypoprotein...	ORPHA:2494
Diarrhea 7, Protein-Losing Enteropathy Type	Failure to thrive, Hyperlipidemia, Villous atrophy, Protein-losing enteropathy, Hypoalbuminemia, ...	OMIM:615863
Leishmaniasis	Increased circulating antibody level, Rhinitis, Hepatomegaly, Splenomegaly, Leukopenia, Abnormal ...	ORPHA:507
Immunodeficiency 50	Lymphopenia, Eczema, Recurrent urinary tract infections, Decreased circulating antibody level, Ne...	OMIM:300988
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Failure to thrive, Hyperammonemia, 3-Methylglutaconic aciduria, Recurrent infections, Neonatal se...	OMIM:614739
Microsporidiosis	Keratitis, Pancreatitis, Urethritis, Lymphadenitis, Sepsis, Myocarditis, Biliary tract abnormalit...	ORPHA:2552
Ebola Hemorrhagic Fever	Melena, Increased circulating antibody level, Lymphopenia, Maculopapular exanthema, Leukopenia, S...	ORPHA:319218
Aggressive Systemic Mastocytosis	Decreased liver function, Malabsorption, Neutropenia, Abnormal mast cell morphology, Leukocytosis...	ORPHA:98850
Stevens-Johnson Syndrome	Dysuria, Pancreatitis, Acute hepatic failure, Sepsis, Abnormality of the urethra, Esophageal stri...	ORPHA:36426
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Esophageal neoplasm, Gastroesophageal reflux, Hepatomegaly, Abnormal esophagus physiology, Dyspha...	ORPHA:2198
Granulomatous Disease, Chronic, X-Linked	Discoid lupus rash, Hepatomegaly, Lymphadenitis, Rectal abscess, Eczematoid dermatitis, Osteomyel...	OMIM:306400
Wiskott-Aldrich Syndrome	Melena, Eczema, Sepsis, Decreased mean platelet volume, Abnormal delayed hypersensitivity skin te...	OMIM:301000
Neuroleptic Malignant Syndrome	Hypomagnesemia, Hypocalcemia, Leukocytosis, Aspiration pneumonia, Dehydration, Elevated circulati...	ORPHA:94093
Congenital Enterocyte Heparan Sulfate Deficiency	Dehydration, Hematochezia, Weight loss, Protein-losing enteropathy, Hypoalbuminemia, Edema, Abnor...	ORPHA:103910
Peroxisome Biogenesis Disorder 12A (Zellweger)	Renal tubular dysfunction, Cholelithiasis, Decreased body weight, Hyperbilirubinemia, Elevated ci...	OMIM:614886
Rat-Bite Fever	Oligoarthritis, Pancreatitis, Pustule, Skin rash, Maculopapular exanthema, Lymphadenitis, Sepsis,...	ORPHA:31205
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro...	OMIM:608203
Pfapa Syndrome	Malabsorption, Hepatomegaly, Splenomegaly, Arthritis, Recurrent pharyngitis, Infectious encephali...	ORPHA:42642
Melioidosis	Splenic abscess, Prostatitis, Osteoarthritis, Sepsis, Parotitis, Brain abscess, Abnormality of th...	ORPHA:31202
Mu-Heavy Chain Disease	Increased circulating antibody level, Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Nephro...	ORPHA:100024
Caroli Disease	Cholelithiasis, Weight loss, Cholangiocarcinoma, Hepatomegaly, Leukocytosis, Splenomegaly, Cirrho...	ORPHA:53035
Pulmonary Blastoma	Weight loss, Recurrent pneumonia	ORPHA:64741
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Neutrophilia, Leukocyt...	OMIM:619281
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Chronic kidney disease, Nephropathy, Gout, Focal segmental glomerulosclerosis, Renal cyst, Recurr...	OMIM:617056
Liver Disease, Severe Congenital	Increased circulating ferritin concentration, Chronic gastritis, Exocrine pancreatic insufficienc...	OMIM:619991
Leukocyte Adhesion Deficiency	Otitis media, Sepsis, Severe periodontitis, Impaired platelet aggregation, Pneumonia, Bone marrow...	ORPHA:2968
Lymphoproliferative Syndrome, X-Linked, 1	Neutropenia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Hemophagocytos...	OMIM:308240
Igg4-Related Aortitis	Increased circulating antibody level, Elevated circulating C-reactive protein concentration, Inte...	ORPHA:449400
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Steatorrhe...	ORPHA:79303
Congenital Disorder Of Glycosylation, Type Ib	Failure to thrive, Hepatomegaly, Steatorrhea, Hepatic failure, Cirrhosis, Villous atrophy, Renal ...	OMIM:602579
Classic Galactosemia	Hepatomegaly, Hepatic failure, Sepsis, Abnormal erythrocyte enzyme level, Elevated hepatic transa...	ORPHA:79239
Acute Myelomonocytic Leukemia	Leukocytosis, Eosinophilia, Weight loss, Anemia, Thrombocytopenia	ORPHA:517
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Hyperalaninemia, Hyperglycinemia, Sepsis	OMIM:619059
Amoebiasis Due To Entamoeba Histolytica	Acute colitis, Leukocytosis, Pleural empyema, Constrictive pericarditis, Intestinal obstruction, ...	ORPHA:67
Anemia, Congenital Dyserythropoietic, Type Iv	Anemia of inadequate production, Hepatomegaly, Anisocytosis, Increased RBC distribution width, Sc...	OMIM:613673
Scedosporiosis	Sinusitis, Abnormal jejunum morphology, Osteomyelitis, Pleural empyema, Sepsis, Endocarditis, Pne...	ORPHA:449280
Epidermolysis Bullosa Simplex 2D, Generalized, Intermediate Or Severe, Autosomal Recessive	Recurrent upper respiratory tract infections, Sepsis	OMIM:619599
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Recurrent gastroenteritis, Nephrotic syndrome, Decreased circulating IgG level, Macroglossia, Rec...	ORPHA:505248
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated circulating C-reactive protein concentration, Neutrophilia, Brain abscess, Abnormality o...	ORPHA:54251
Osteootohepatoenteric Syndrome	Failure to thrive, Hypokalemia, Prolonged neonatal jaundice, Microvesicular hepatic steatosis, De...	OMIM:619377
Paternal Uniparental Disomy Of Chromosome 1	Episodic hemolytic anemia, Increased blood urea nitrogen, Macroscopic hematuria, Membranoprolifer...	ORPHA:251004
Laryngeal Neuroendocrine Tumor	Weight loss, Elevated carcinoembryonic antigen level, Oral-pharyngeal dysphagia	ORPHA:100083
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Chronic otitis media, Abno...	ORPHA:3226
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	High palate, Failure to thrive, Exocrine pancreatic insufficiency, Cholestatic liver disease, Hep...	OMIM:619418
Neutrophilia, Hereditary	Hepatosplenomegaly, Neutrophilia	OMIM:162830
X-Linked Lymphoproliferative Disease	Increased circulating ferritin concentration, Hemophagocytosis, Hepatic failure, Aplastic anemia,...	ORPHA:2442
Galactose Epimerase Deficiency	Hepatomegaly, Aminoaciduria, Splenomegaly, Weight loss, Jaundice	ORPHA:79238
Congenital Disorder Of Glycosylation, Type Ih	Decreased liver function, Failure to thrive, Hepatomegaly, Oligohydramnios, Cholestasis, Thromboc...	OMIM:608104
46,Xy Sex Reversal 4	High palate, Anal atresia, Increased blood urea nitrogen, Cleft palate, Ureteropelvic junction ob...	OMIM:154230
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hyperlipidemia, Increased blood urea nitrogen, Schistocytosis, Elevated circulating creatinine co...	OMIM:235400
Folate Malabsorption, Hereditary	Failure to thrive, Malabsorption, Leukopenia, Recurrent infections, Neutropenia, Thrombocytopenia...	OMIM:229050
Budd-Chiari Syndrome	Malabsorption, Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, Peritonitis, Cholecy...	ORPHA:131
Wiskott-Aldrich Syndrome	Keratitis, Otitis media, Eczema, Sepsis, Hematochezia, Blepharitis, Conjunctivitis, Inflammation ...	ORPHA:906
Meningococcal Meningitis	Elevated circulating C-reactive protein concentration, Skin rash, Sepsis, Renal insufficiency, In...	ORPHA:33475
Bile Acid Synthesis Defect, Congenital, 1	Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Steatorr...	OMIM:607765
Chediak-Higashi Syndrome	Periodontitis, Recurrent bacterial skin infections, Hepatomegaly, Hemophagocytosis, Splenomegaly,...	OMIM:214500
Necrobiosis Lipoidica	Abnormality of neutrophil physiology, Granuloma, Inflammatory abnormality of the skin	ORPHA:542592
Immunodeficiency 81	Impaired collagen-induced platelet aggregation, Skin rash, Abnormally low T cell receptor excisio...	OMIM:619374
Lamellar Ichthyosis	Dehydration, Sepsis, Chronic otitis media, Renal insufficiency, Erythroderma, Recurrent respirato...	ORPHA:313
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Nonspherocytic hemolytic anemia, Cholelithiasis, Splenomegaly, Spontaneous hemolytic crises, Impa...	OMIM:613470
Adult-Onset Still Disease	Joint swelling, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis...	ORPHA:829
Trimethylaminuria	Splenomegaly, Recurrent pneumonia, Neutropenia, Trimethylaminuria, Anemia	OMIM:602079
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Lacticaciduria, Hyperglycinemia, Protein-losing enteropathy, Recurrent respiratory infections	OMIM:619063
Severe Generalized Junctional Epidermolysis Bullosa	Sepsis, Ureteral obstruction, Urinary retention, Pneumonia, Gastrointestinal inflammation, Pyoder...	ORPHA:79404
Eosinophilic Fasciitis	Muscular edema, Abnormal eosinophil morphology, Eosinophilia, Myositis, Arthritis, Fasciitis, Ede...	ORPHA:3165
Immunodeficiency 31C	Lymphopenia, Eczema, Villous atrophy, Chronic mucocutaneous candidiasis, Autoimmune hemolytic ane...	OMIM:614162
Isolated Congenital Hypoglossia/Aglossia	Aspiration pneumonia, Microglossia, Weight loss, Cleft palate	ORPHA:141152
Aicardi-Goutieres Syndrome 9	Hepatomegaly, Proteinuria, Pericarditis, Weight loss, Stage 5 chronic kidney disease, Recurrent u...	OMIM:619487
Idiopathic Chronic Eosinophilic Pneumonia	Elevated circulating C-reactive protein concentration, Leukocytosis, Atopic dermatitis, Abnormali...	ORPHA:2902
Lassa Fever	Facial edema, Jaundice, Sepsis, Oliguria, Increased circulating IgM level, Dysphagia, Conjunctivitis	ORPHA:99824
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei...	ORPHA:158057
Pearson Marrow-Pancreas Syndrome	Exocrine pancreatic insufficiency, Hepatomegaly, 3-Methylglutaric aciduria, Steatorrhea, Hepatic ...	OMIM:557000
Rhabdoid Tumor	Neoplasm of the liver, Hematuria, Weight loss, Hypercalcemia, Anemia, Thrombocytopenia	ORPHA:69077
Paroxysmal Nocturnal Hemoglobinuria	Odynophagia, Hemoglobinuria, Glycosuria, Proteinuria, Reduced haptoglobin level, Pancytopenia, Re...	ORPHA:447
Hemochromatosis, Type 3	Increased circulating ferritin concentration, Lymphopenia, Cirrhosis, Arthritis, Elevated hepatic...	OMIM:604250
Immunodeficiency 85 And Autoimmunity	Oligoarthritis, Decreased circulating IgA level, Lymphopenia, Decreased circulating IgE, Decrease...	OMIM:619510
Mitochondrial Neurogastrointestinal Encephalomyopathy	Atrophic muscularis propria, Gastroesophageal reflux, Small intestinal dysmotility, Cirrhosis, Ca...	ORPHA:298
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Failure to thrive, Pancreatitis, Hepatomegaly, Splenomegaly, Hyperammonemia, Dehydration, Renal i...	ORPHA:79312
Hereditary Amyloidosis With Primary Renal Involvement	Hepatomegaly, Decreased glomerular filtration rate, Elevated circulating creatinine concentration...	ORPHA:85450
Sickle Cell Anemia	Increased mean corpuscular volume, Osteomyelitis, Leukocytosis, Hypochromic anemia, Persistence o...	ORPHA:232
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Ileus, Failure to thrive, Coombs-positive hemolytic anemia, Eosinophilia, Eczema, Autoimmune thro...	OMIM:304790
Meckel Diverticulum	Meckel diverticulum	OMIM:155140
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Osteomyelitis, Elevated circulating C-reactive protein concentration, Skin rash, Palmoplantar pus...	ORPHA:324964
Indolent Systemic Mastocytosis	Abnormal mast cell morphology, Hepatomegaly, Skin rash, Splenomegaly, Maculopapular exanthema, Ma...	ORPHA:98848
Radiation Proctitis	Rectal fistula, Sepsis, Abnormal gastrointestinal vascular morphology, Abnormal rectum morphology...	ORPHA:70475
Blood Group, Cromer System	Protein-losing enteropathy	OMIM:613793
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Edema of the dorsum of feet, Sepsis, Failure to thrive, Edema of the dorsum of hands	ORPHA:544503
Mpi-Cdg	Decreased liver function, Failure to thrive, Hepatomegaly, Protein-losing enteropathy, Hypoalbumi...	ORPHA:79319
Generalized Pseudohypoaldosteronism Type 1	Cholelithiasis, Recurrent upper and lower respiratory tract infections, Osteomyelitis, Pustule, R...	ORPHA:171876
Calciphylaxis	Sepsis, Hyperphosphatemia, Stage 5 chronic kidney disease	ORPHA:280062
Focal Myositis	Weight loss, Elevated circulating creatine kinase concentration, Myositis	ORPHA:48918
Acute Bilirubin Encephalopathy	Hypernatremia, Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Neonatal hyperbili...	ORPHA:529799
Chronic Bilirubin Encephalopathy	Hypernatremia, Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Neonatal hyperbili...	ORPHA:529808
Bile Acid Synthesis Defect, Congenital, 4	Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Hepatic failure, Eleva...	OMIM:214950
Wilson Disease	Joint swelling, Failure to thrive, Hepatomegaly, Acute hepatitis, Splenomegaly, Acute hepatic fai...	ORPHA:905
Cinca Syndrome	Elevated circulating C-reactive protein concentration, Leukocytosis, Skin rash, Eosinophilia, Hep...	OMIM:607115
Cystic Echinococcosis	Increased circulating antibody level, Cholestatic liver disease, Hepatomegaly, Hyperbilirubinemia...	ORPHA:400
Sporadic Creutzfeldt-Jakob Disease	Recurrent aspiration pneumonia, Sepsis, Recurrent infections	ORPHA:204
Inflammatory Pseudotumor Of The Liver	Abnormal liver sonography, Neoplasm of the liver, Increased hepatitis B virus antibody level, Cir...	ORPHA:90003
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency	Decreased circulating IgG level, Hypoproteinemia, Hypoalbuminemia, Edema, Neutropenia, Abnormal i...	OMIM:600351
Hereditary Renal Hypouricemia	Chronic kidney disease, Increased blood urea nitrogen, Decreased glomerular filtration rate, Abno...	ORPHA:94088
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Colitis, Elevated circulating C-reactive protein concentration, Lymphocytosis,...	OMIM:301074
Posttransplant Acute Limbic Encephalitis	Sepsis, Hyponatremia	ORPHA:163921
Multicentric Reticulohistiocytosis	Histiocytosis, Cachexia, Arthritis	ORPHA:139436
Listeriosis	Sepsis, Abscess, Myocarditis, Pneumonia, Pericarditis, Jaundice, Septic arthritis, Osteomyelitis,...	ORPHA:533
Netherton Syndrome	Failure to thrive, Decreased circulating IgG level, Intestinal atresia, Hypernatremic dehydration...	OMIM:256500
Cholestasis, Progressive Familial Intrahepatic, 2	Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Conjugated hy...	OMIM:601847
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Failure to thrive, Recurrent skin infections, Sepsis, Smooth tongue, Decreased circulating antibo...	ORPHA:79396
Dopamine Beta-Hydroxylase Deficiency	Increased blood urea nitrogen, Elevated urinary dopamine, Dehydration, Nocturia, Elevated circula...	ORPHA:230
Ras-Associated Autoimmune Leukoproliferative Disorder	Increased circulating antibody level, Hepatomegaly, Lymphocytosis, Splenomegaly, Monocytosis, Aut...	OMIM:614470
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Hematochezia, Colonic atresia, Jejunal atresia, Recurrent respiratory infections, Lymphopenia, In...	OMIM:243150
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Intestinal malrotation, Hydroureter, Multicystic kidney dysplasia, Abnormality of the gastrointes...	ORPHA:2241
Mast Cell Sarcoma	Weight loss, Mastocytosis, Hepatomegaly, Splenomegaly	ORPHA:66661
Wolcott-Rallison Syndrome	Chronic kidney disease, Exocrine pancreatic insufficiency, Hepatomegaly, Lymphocytosis, Hyperbili...	ORPHA:1667
Wolman Disease	Hepatomegaly, Splenomegaly, Steatorrhea, Hepatic failure, Cachexia, Esophageal varix, Bone-marrow...	ORPHA:75233
Psoriasis 14, Pustular	Oligoarthritis, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis...	OMIM:614204
Drug Reaction With Eosinophilia And Systemic Symptoms	Nephrotic syndrome, Lymphocytosis, Pustule, Skin rash, Acute hepatic failure, Eosinophilia, Inter...	ORPHA:139402
Holocarboxylase Synthetase Deficiency	Hyperammonemia, Eczema, Keratoconjunctivitis, Perioral eczema, Organic aciduria, Weight loss, Thr...	ORPHA:79242
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Failure to thrive, Hepatomegaly, Leukocytosis, Splenomegaly, Hypoproteinemia, Eczema, Elevated ci...	OMIM:615895
Brucellosis	Elevated circulating C-reactive protein concentration, Hepatomegaly, Myocarditis, Epididymitis, P...	ORPHA:1304
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Failure to thrive, Pancreatitis, Hepatomegaly, Hyperammonemia, Dehydration, Leukopenia, Methylmal...	OMIM:251000
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Elevated circulating acylcarnitine concentration, Elevated circulating long chain fatty acid conc...	ORPHA:228302
Familial Cold Autoinflammatory Syndrome 2	Elevated circulating C-reactive protein concentration, Skin rash, Leukocytosis, Splenomegaly, Art...	OMIM:611762
Uremic Pruritus	Chronic kidney disease, Inflammatory abnormality of the skin, Increased blood urea nitrogen, Rena...	ORPHA:94059
Cockayne Syndrome Type 1	Failure to thrive, Increased blood urea nitrogen, Hepatomegaly, Elevated hepatic transaminase, Uv...	ORPHA:90321
Adult Acute Respiratory Distress Syndrome	Pancreatitis, Sepsis, Pulmonary edema, Pneumonia	ORPHA:70578
Immunodeficiency 82 With Systemic Inflammation	Gastritis, Elevated circulating C-reactive protein concentration, B lymphocytopenia, Pneumonia, W...	OMIM:619381
Igg4-Related Kidney Disease	Abnormal ureter morphology, Elevated circulating C-reactive protein concentration, Pancreatitis, ...	ORPHA:449395
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Eczema, B lymphocytopenia, Erythroderma, Recurrent viral infections, Decreased proportion of CD4+...	OMIM:606367
Alg6-Cdg	Failure to thrive, Macroglossia, Decreased LDL cholesterol concentration, Protein-losing enteropa...	ORPHA:79320
Intestinal Dysmotility Syndrome	High palate, Failure to thrive, Decreased intestinal transit time, Polyhydramnios, Weight loss	OMIM:620045
Currarino Syndrome	Anal atresia, Anal fistula, Sepsis, Recurrent urinary tract infections, Gastrointestinal obstruct...	OMIM:176450
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen...	OMIM:202700
Relapsing Fever	Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Leukopenia, He...	ORPHA:91547
Imerslund-Gräsbeck Syndrome	Megaloblastic anemia, Failure to thrive, Neutropenia, Anisopoikilocytosis, Macrocytic anemia, Thr...	ORPHA:35858
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Joint swelling, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis...	OMIM:617099
Systemic Mastocytosis With Associated Hematologic Neoplasm	Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Hepatomegaly, Myeloproli...	ORPHA:98849
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Gastroesophageal reflux, Increased blood urea nitrogen, Recurrent infections due to aspiration, A...	OMIM:223900
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Abnormal renal phys...	ORPHA:540
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Slender build, Malabsorption, Cachexia, Intestinal pseudo-obstruction, Weight loss, Gastrointesti...	OMIM:613662
Eosinophilia, Familial	Leukocytosis, Eosinophilia, Recurrent bronchitis, Anemia, Thrombocytopenia	OMIM:131400
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Malabsorption, Hypomagnesemia, Hypokalemia, Hypocalcemia, Cachexia, Xerostomia, Hematochezia, Glo...	OMIM:175500
Macrophage Activation Syndrome	Increased circulating ferritin concentration, Decreased liver function, Elevated circulating C-re...	ORPHA:158061
Systemic Capillary Leak Syndrome	Pulmonary edema, Pancreatitis, Leukocytosis, Myocarditis, Oliguria, Pedal edema, Weight loss, Ren...	ORPHA:188
Cronkhite-Canada Syndrome	Malabsorption, Hepatomegaly, Stomach cancer, Splenomegaly, Cachexia, Furrowed tongue, Intestinal ...	ORPHA:2930
Cholestasis, Progressive Familial Intrahepatic, 1	Cholelithiasis, Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Conjugated hyperbilirub...	OMIM:211600
Hypercalcemia, Infantile, 1	Nephrolithiasis, Failure to thrive, Dehydration, Polyuria, Hypercalciuria, Infantile hypercalcemi...	OMIM:143880
Congenital Tufting Enteropathy	Anal atresia, Malabsorption, Elevated fecal osmolality, Abnormal large intestinal mucosa morpholo...	ORPHA:92050
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Hydroureter, Sepsis, Polyhydramnios, Hydronephrosis, Microcolon, Megacystis	OMIM:619362
Benign Recurrent Intrahepatic Cholestasis	Cholelithiasis, Cholestatic liver disease, Pancreatitis, Cirrhosis, Hepatocellular carcinoma, Ele...	ORPHA:65682
Nocardiosis	Keratitis, Thyroiditis, Osteomyelitis, Lymphadenitis, Peritonitis, Brain abscess, Endocarditis, S...	ORPHA:31204
Primary Sclerosing Cholangitis	Cholelithiasis, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Cholestasis, Uveitis, Chronic hep...	ORPHA:171
Hepatocellular Carcinoma	Hepatomegaly, Pedal edema, Esophageal varix, Weight loss, Jaundice, Hyperbilirubinemia, Elevated ...	ORPHA:88673
Acquired Idiopathic Sideroblastic Anemia	Anemia of inadequate production, Granulocytopenia, Neutropenia, Hepatomegaly, Leukocytosis, Splen...	ORPHA:75564
Mevalonic Aciduria	Failure to thrive, Fluctuating hepatomegaly, Morbilliform rash, Elevated circulating C-reactive p...	OMIM:610377
Kid Syndrome	Keratitis, Failure to thrive, Recurrent bacterial skin infections, Posterior blepharitis, Recurre...	ORPHA:477
Methylmalonic Acidemia With Homocystinuria Type Cblf	Megaloblastic anemia, Failure to thrive, Cleft palate, Skin rash, Unilateral renal agenesis, Elev...	ORPHA:79284
Al Amyloidosis	Increased circulating antibody level, Nephrotic syndrome, Hepatomegaly, Macroglossia, Increased c...	ORPHA:85443
Adult Idiopathic Neutropenia	Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Monocytosis, Helicobact...	ORPHA:2688
Scleroderma	Keratitis, Myocarditis, Uveitis, Pericarditis, Peau d'orange, Abnormal large intestine morphology...	ORPHA:801
Leukocyte Adhesion Deficiency, Type I	Periodontitis, Osteomyelitis, Elevated circulating C-reactive protein concentration, Leukocytosis...	OMIM:116920
Infant Acute Respiratory Distress Syndrome	Sepsis, Pulmonary edema, Pneumonia	ORPHA:70587
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Keratitis, Sepsis, Hematuria, Moderate albuminuria, Pneumonia, Rhinitis, Gastrointestinal inflamm...	ORPHA:95455
Tuberculosis	Weight loss	ORPHA:3389
Diarrhea 5, With Tufting Enteropathy, Congenital	Failure to thrive, Villous atrophy, Small for gestational age, Arthritis	OMIM:613217
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hepatomegaly, High, narrow pala...	ORPHA:228308
Congenital Bile Acid Synthesis Defect Type 3	Hyperbilirubinemia, Hepatic failure, Cirrhosis, Hepatosplenomegaly, Elevated circulating aspartat...	ORPHA:79302
Lysosomal Acid Lipase Deficiency	Steatorrhea, Hepatic failure, Esophageal varix, Weight loss, Jaundice, Dehydration, Abnormal urin...	ORPHA:275761
Cryptogenic Organizing Pneumonia	Weight loss, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis	ORPHA:1302
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Intestinal malrotation, Pyloric stenosis, Increased mean platelet volume, Patent ductus arteriosu...	OMIM:300048
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Weight loss, Hepatomegaly, Splenomegaly	ORPHA:86893
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis	Joint swelling, Osteomyelitis, Elevated circulating C-reactive protein concentration, Neutrophili...	OMIM:612852
Follicular Lymphoma	Splenomegaly, Abnormality of the peritoneum, Lymphedema, Pleural effusion, Weight loss	ORPHA:545
Isolated Biliary Atresia	Decreased liver function, Failure to thrive, Hepatomegaly, Dark yellow urine, Periportal fibrosis...	ORPHA:30391
Autosomal Dominant Severe Congenital Neutropenia	Periodontitis, Recurrent infection of the gastrointestinal tract, Lymphopenia, Rhinitis, Recurren...	ORPHA:486
Sweet Syndrome	Oligoarthritis, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis...	ORPHA:3243
Pseudomyxoma Peritonei	Inflammation of the large intestine, Abnormality of the peritoneum, Intestinal obstruction, Weigh...	ORPHA:26790
Diffuse Alveolar Hemorrhage	Leukocytosis, Hematuria, Elevated circulating creatinine concentration, Weight loss, Proteinuria,...	ORPHA:90060
Sarcoidosis	Hepatomegaly, Hepatic failure, Maculopapular exanthema, Uveitis, Enlargement of parotid gland, We...	ORPHA:797
Methylmalonic Aciduria, Cblb Type	Failure to thrive, Ketonuria, Hepatomegaly, Hyperammonemia, Dehydration, Methylmalonic aciduria, ...	OMIM:251110
Central Diabetes Insipidus	Failure to thrive, Dehydration, Nocturia, Hyponatremia, Weight loss	ORPHA:178029
Transcobalamin Deficiency	Decreased circulating IgA level, Neutropenia, Lymphopenia, Decreased circulating IgG level, Methy...	ORPHA:859
Muckle-Wells Syndrome	Elevated circulating C-reactive protein concentration, Leukocytosis, Maculopapular exanthema, Rec...	OMIM:191900
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Decreased liver function, Hepatomegaly, Hyperammonemia, Cachexia, Elevated circulating creatine k...	ORPHA:42
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Hypoproteinemia, Jejunoileal ulceration, Small bowel diverticula, Fat malabsorption	OMIM:221400
Acute Monoblastic/Monocytic Leukemia	Lymphocytosis, Leukocytosis, Hypochromic anemia, Acute monocytic leukemia, Oliguria, Weight loss,...	ORPHA:514
Multiple Myeloma	Nephrotic syndrome, Increased circulating IgA level, Splenomegaly, Hyperproteinemia, Nephropathy,...	ORPHA:29073
3-Hydroxy-3-Methylglutaric Aciduria	Ketonuria, Lipid accumulation in hepatocytes, Hepatomegaly, Leukocytosis, Hyperammonemia, 3-Methy...	ORPHA:20
Castleman Disease	Decreased mean corpuscular volume, Elevated circulating C-reactive protein concentration, Uretera...	ORPHA:160
Familial Cold Autoinflammatory Syndrome 1	Elevated circulating C-reactive protein concentration, Skin rash, Leukocytosis, Arthritis, Uveiti...	OMIM:120100
Orthostatic Hypotension 1	High palate, Nocturia, Hypomagnesemia, Increased blood urea nitrogen	OMIM:223360
Parenteral Nutrition-Associated Cholestasis	Cholelithiasis, Hyperlipidemia, Hepatomegaly, Abnormal circulating fatty-acid concentration, Sple...	ORPHA:567983
Desmoplastic Small Round Cell Tumor	Neoplasm of the pancreas, Ileus, Hepatomegaly, Cachexia, Abnormality of the peritoneum, Weight lo...	ORPHA:83469
Cryptococcosis	Prostatitis, Osteomyelitis, Cirrhosis, Peritonitis, Sepsis, Lymphoid leukemia, Pneumonia, Pleural...	ORPHA:1546
Kaposi Sarcoma	Skin rash, Abnormality of the spleen, Abnormality of the gastrointestinal tract, Lymphedema, Weig...	ORPHA:33276
Chylomicron Retention Disease	Failure to thrive, Steatorrhea, Acanthocytosis, Elevated hepatic transaminase, Hypocholesterolemi...	ORPHA:71
Beta-Ketothiolase Deficiency	Ketonuria, Hepatomegaly, Leukocytosis, Hyperammonemia, Dehydration, Thrombocytosis, Hyperuricemia...	ORPHA:134
Familial Mediterranean Fever	Crohn's disease, Nephrotic syndrome, Elevated circulating C-reactive protein concentration, Neutr...	OMIM:249100
Immunodeficiency 21	Recurrent fungal infections, Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemi...	OMIM:614172
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Decreased glucose-6-phosphate dehydrogenase level in blood, Leukocytosis, Splenomegaly, Heinz bod...	OMIM:300908
Trichohepatoenteric Syndrome 2	Failure to thrive, Colitis, Hepatomegaly, Small for gestational age, Cirrhosis, Chronic hepatitis...	OMIM:614602
Propionic Acidemia	Failure to thrive, Pancreatitis, Hyperglycinuria, Hepatomegaly, Hyperammonemia, Dehydration, Ecze...	OMIM:606054
Inflammatory Bowel Disease (Crohn Disease) 1	Crohn's disease, Inflammation of the large intestine, Intestinal obstruction, Recurrent aphthous ...	OMIM:266600
Aicardi-Goutieres Syndrome 7	Increased circulating ferritin concentration, Hepatomegaly, Hematochezia, Pneumonia, Pancytopenia...	OMIM:615846
Autosomal Recessive Polycystic Kidney Disease	Cholangiocarcinoma, Hepatoblastoma, Cholestasis, Enlarged kidney, Esophageal varix, Fat malabsorp...	ORPHA:731
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hepatomegaly, Hepatic failure, ...	ORPHA:157
Symptomatic Form Of Hemochromatosis Type 1	Increased circulating ferritin concentration, Joint swelling, Cholangiocarcinoma, Hepatomegaly, S...	ORPHA:465508
Agammaglobulinemia 1, Autosomal Recessive	Failure to thrive, Neutropenia, Recurrent bacterial infections, B lymphocytopenia, Panhypogammagl...	OMIM:601495
Immunodeficiency 92	Decreased circulating IgA level, Osteomyelitis, Decreased circulating IgG level, Lymphocytosis, L...	OMIM:619652
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Acute colitis, Hypokalemia, Pancreatitis, Intussusception, Leukocytosis, Hemoglobinuria, Dehydrat...	ORPHA:90038
Cinca Syndrome	Elevated circulating C-reactive protein concentration, Hepatomegaly, Leukocytosis, Splenomegaly, ...	ORPHA:1451
Glycogen Storage Disease Ib	Nephrolithiasis, Hyperlipidemia, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate...	OMIM:232220
Postinfectious Vasculitis	Recurrent streptococcus pneumoniae infections, Elevated circulating C-reactive protein concentrat...	ORPHA:48435
Methylmalonic Aciduria, Cbla Type	Failure to thrive, Ketonuria, Hepatomegaly, Hyperammonemia, Dehydration, Methylmalonic aciduria, ...	OMIM:251100
Hodgkin Lymphoma	Weight loss, Hepatomegaly, Splenomegaly	ORPHA:98293
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Colitis, Lymphopenia, Skin rash, Anterior uveitis, Ileal ulcer, Hemolytic anemia, Thrombocytopenia	OMIM:616744
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia...	OMIM:150550
Medullary Thyroid Carcinoma	Dysphagia, Weight loss, Abnormal liver parenchyma morphology	ORPHA:1332
Insulin Autoimmune Syndrome	Increased circulating antibody level, Weight loss, Arthralgia/arthritis	ORPHA:411593
Undifferentiated Pleomorphic Sarcoma	Weight loss, Abnormality of the peritoneum	ORPHA:2023
Beta-Thalassemia Intermedia	Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Decreased liv...	ORPHA:231222
Hypercholanemia, Familial 1	Failure to thrive, Fat malabsorption, Increased serum bile acid concentration, Steatorrhea	OMIM:607748
Methylmalonic Aciduria And Homocystinuria, Cblf Type	High palate, Megaloblastic anemia, Failure to thrive, Skin rash, Methylmalonic aciduria, Homocyst...	OMIM:277380
Celiac Disease, Susceptibility To, 1	Failure to thrive, Decreased circulating IgA level, Hypocalcemia, Steatorrhea, Eczema, Macrocytic...	OMIM:212750
Bone Dysplasia, Lethal Holmgren Type	Failure to thrive, Hepatomegaly, Weight loss, Patent ductus arteriosus, Anemia, Recurrent respira...	ORPHA:1842
Juvenile Temporal Arteritis	Allergic rhinitis, Eosinophilia, Conjunctivitis, Leukocytosis	ORPHA:26137
Eosinophilic Granulomatosis With Polyangiitis	Malabsorption, Sinusitis, Gastroesophageal reflux, Skin rash, Eosinophilia, Endocarditis, Myositi...	ORPHA:183
Visceral Myopathy 2	Megacystis, Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Ne...	OMIM:619350
Insulin-Resistance Syndrome Type B	Decreased body weight, Increased circulating IgA level, Abnormal circulating fatty-acid concentra...	ORPHA:2298
Polyarteritis Nodosa	Elevated circulating C-reactive protein concentration, Pericarditis, Weight loss, Abnormality of ...	ORPHA:767
Alveolar Echinococcosis	Cutaneous abscess, Increased circulating antibody level, Decreased liver function, Pancreatic cys...	ORPHA:284
Shwachman-Diamond Syndrome 1	Failure to thrive, Exocrine pancreatic insufficiency, Neutropenia, Hepatomegaly, Steatorrhea, Per...	OMIM:260400
Primary Myelofibrosis	Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Cachexia, Hepatosplenomeg...	ORPHA:824
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Failure to thrive, Aminoaciduria, Cachexia, Proximal tubulopathy, Weight loss	OMIM:612075
Immunodeficiency 23	High palate, Failure to thrive, Lymphopenia, Eosinophilia, Abscess, Eczema, Membranoproliferative...	OMIM:615816
Q Fever	Hepatomegaly, Maculopapular exanthema, Hematuria, Myocarditis, Pneumonia, Pericarditis, Weight lo...	ORPHA:781
Pneumocystosis	Increased circulating antibody level, Chronic oral candidiasis, Interstitial pneumonitis, Acute i...	ORPHA:723
Whipple Disease	Malabsorption, Hepatomegaly, Splenomegaly, Cachexia, Myositis, Myocarditis, Pericarditis, Arthrit...	ORPHA:3452
Allergic Bronchopulmonary Aspergillosis	Bronchiectasis, Weight loss, Abnormal eosinophil morphology	ORPHA:1164
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	High palate, Hypocalcemia, Hepatomegaly, Cleft palate, Splenomegaly, Hypoproteinemia, Micropenis,...	OMIM:235255
Chronic Hiccup	Dehydration, Weight loss	ORPHA:396
Systemic Sclerosis	Myocarditis, Proteinuria, Pericarditis, Albuminuria, Abnormal large intestine morphology, Joint s...	ORPHA:90291
Thymoma	Rheumatoid arthritis, Neoplasm of the gastrointestinal tract, Aplastic anemia, Myositis, Imbalanc...	ORPHA:99867
Neutropenia, Severe Congenital, X-Linked	Recurrent bacterial infections, Eczema, Neutropenia, Decreased CD4:CD8 ratio, Monocytopenia	OMIM:300299
Congenital Short Bowel Syndrome	Failure to thrive, Intestinal atresia, Steatorrhea, Intestinal malrotation, Dehydration, Abnormal...	OMIM:615237
Mosaic Trisomy 9	High palate, Hypoplasia of penis, Cleft palate, Intestinal malrotation, Abnormal liver lobulation...	ORPHA:99776
Ectodermal Dysplasia-Skin Fragility Syndrome	Failure to thrive, Cheilitis, Anoperineal fistula, Recurrent skin infections, Sepsis, Urethral st...	ORPHA:158668
Malignant Peritoneal Mesothelioma	Ileus, Peritonitis, Pedal edema, Weight loss, Ascites	ORPHA:168811
Pseudo-Torch Syndrome 3	Increased circulating ferritin concentration, Leukocytosis, Lymphadenitis, Congenital thrombocyto...	OMIM:618886
Congenital Disorder Of Glycosylation, Type Ia	Failure to thrive, Decreased circulating IgA level, Nephrotic syndrome, Decreased circulating IgG...	OMIM:212065
Yao Syndrome	Nephrolithiasis, Inflammatory abnormality of the skin, Skin rash, Xerostomia, Keratoconjunctiviti...	OMIM:617321
Oculoskeletodental Syndrome	Hypocalcemia, Hepatomegaly, Macroglossia, Splenomegaly, Small for gestational age, Hypercalciuria...	OMIM:618440
Syndromic Diarrhea	Colitis, Gastritis, Hepatoblastoma, Lymphopenia, Splenomegaly, Hepatomegaly, Cirrhosis, Hypoplasi...	ORPHA:84064
Glucose-Galactose Malabsorption	Nephrolithiasis, Failure to thrive, Dehydration, Hematuria, Hypernatremia, Renal insufficiency, H...	ORPHA:35710
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Eczema, B lymphocytopenia, Inflammatory abnormality of the skin, Renovascular hypertension, Villo...	ORPHA:391487
Pleural Mesothelioma	Dysphagia, Weight loss, Hepatomegaly, Pleural effusion	ORPHA:50251
Takayasu Arteritis	Arthritis, Weight loss, Increased inflammatory response, Gastrointestinal infarctions, Anemia, In...	ORPHA:3287
Refractory Anemia With Excess Blasts	Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Abnormal circula...	ORPHA:86839
Simple Cryoglobulinemia	Nephrotic syndrome, Viral hepatitis, Nephritis, Membranoproliferative glomerulonephritis, Abnorma...	ORPHA:91139
Juvenile Polyposis Of Infancy	Adenomatous colonic polyposis, Melena, Intestinal bleeding, High, narrow palate, Intussusception,...	ORPHA:79076
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated circulating C-reactive protein concentration, Hepatomegaly, Eczema, Esophageal varix, Pa...	OMIM:615688
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Failure to thrive, Neonatal sepsis, Hyponatremia, Pneumonia, Jaundice, Hyperkalemia	ORPHA:90790
Granulomatosis With Polyangiitis	Elevated circulating C-reactive protein concentration, Pancreatitis, Otitis media, Hematuria, Inc...	ORPHA:900
Immunodeficiency 98 With Autoinflammation, X-Linked	Recurrent otitis media, Chronic oral candidiasis, Decreased circulating IgG level, Hemophagocytos...	OMIM:301078
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Cachexia, Methylmalonic aciduria, Elevated circulating creatine kinase concentration, Aminoaciduria	ORPHA:1933
Oculopharyngodistal Myopathy	High palate, High, narrow palate, Impaired oropharyngeal swallow response, Recurrent aspiration p...	ORPHA:98897
Trichohepatoenteric Syndrome 1	Hepatomegaly, Hepatic failure, Cholestasis, Abnormality of the pancreas, Hypermethioninemia, Abno...	OMIM:222470
Diarrhea 10, Protein-Losing Enteropathy Type	Hypomagnesemia, Hypocalcemia, Polyuria, Hematochezia, Polyhydramnios, Hypertriglyceridemia, Prote...	OMIM:618183
Hypouricemia, Renal, 1	Hyperuricosuria, Hypouricemia, Acute kidney injury, Renal tubular epithelial necrosis, Uric acid ...	OMIM:220150
Endove Syndrome, Limb-Only Type	Vesicoureteral reflux, Hydronephrosis, Neonatal sepsis	OMIM:619217
Laryngotracheoesophageal Cleft Type 4	Intestinal atresia, Tracheoesophageal fistula, Cachexia, Abnormality of the spleen, Abnormality o...	ORPHA:93941
Acute Promyelocytic Leukemia	Leukocytosis, Leukopenia, Hematuria, Pancytopenia, Stomatitis, Weight loss, Neutropenia, Anemia, ...	ORPHA:520
Plague	Hepatomegaly, Enterocolitis, Hematemesis, Splenomegaly, Skin rash, Lymphadenitis, Sepsis, Endocar...	ORPHA:707
Pancreatic Lipase Deficiency	Hypolipidemia, Fat malabsorption, Steatorrhea	OMIM:614338
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Pancreatitis, Elevated alpha-fetoprotein, Weight loss, Elevated carcino...	ORPHA:370348
Herpes Simplex Virus Encephalitis	Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Hyponatremia, ...	ORPHA:1930
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Splenomegaly, Edema, Weight loss, Inflammatory abnormality of the eye, Panniculitis	ORPHA:33577
Primary Hyperoxaluria Type 1	Nephrolithiasis, Dysuria, Failure to thrive, Decreased glomerular filtration rate, Recurrent urin...	ORPHA:93598
Inflammatory Bowel Disease (Crohn Disease) 30	Ileitis, Gastritis, Pancolitis, Protein-losing enteropathy, Esophagitis, Duodenitis, Abnormal int...	OMIM:619079
Kikuchi-Fujimoto Disease	Elevated circulating C-reactive protein concentration, Lymphocytosis, Pustule, Splenomegaly, Skin...	ORPHA:50918
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Mulibrey Nanism	Cachexia, Hepatomegaly	ORPHA:2576
Bile Acid Malabsorption, Primary, 1	Failure to thrive, Increased fecal bile acid, Fat malabsorption, Steatorrhea	OMIM:613291
Classic Hodgkin Lymphoma	Hepatomegaly, Skin rash, Splenomegaly, Bone marrow hypocellularity, Weight loss	ORPHA:391
Menkes Disease	Bladder diverticulum, Malabsorption, Osteomyelitis, Sepsis, Prolonged neonatal jaundice, Gastroin...	ORPHA:565
Inflammatory Skin And Bowel Disease, Neonatal, 1	Blepharitis, Failure to thrive, Pustule, Villous atrophy, Erythroderma, Duodenitis, Increased cir...	OMIM:614328
Diarrhea 9	Failure to thrive, Villous atrophy	OMIM:618168
Diencephalic Syndrome	Cachexia, Decreased body weight, Long penis	ORPHA:1672
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Keratitis, Esophageal neoplasm, Chronic kidney disease, Failure to thrive, Gastroesophageal reflu...	ORPHA:1018
Wild Type Attr Amyloidosis	Nephrotic syndrome, Pulmonary edema, Hepatomegaly, Nephropathy, Pedal edema, Proteinuria, Pleural...	ORPHA:330001
Rheumatoid Arthritis	Joint swelling, Rheumatoid arthritis, Weight loss, Elevated circulating C-reactive protein concen...	OMIM:180300
Polymyositis	Gastroesophageal reflux, Hepatomegaly, Elevated circulating creatine kinase concentration, Arthri...	ORPHA:732
Mastocytosis	Hepatomegaly, Splenomegaly, Mastocytosis, Angioedema, Chronic leukemia, Hypercalcemia, Gastrointe...	ORPHA:98292
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Elevated hepatic transaminase, Exocrine pancreatic insufficiency, Neutropenia, Steatorrhea	OMIM:618752
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Leukocytosis, Splenomegaly, Intraalveolar phospholipid accumulation, Decreased circulating antibo...	OMIM:618042
Tubulointerstitial Nephritis And Uveitis Syndrome	Panuveitis, Elevated circulating C-reactive protein concentration, Decreased glomerular filtratio...	ORPHA:91500
Hereditary Chronic Pancreatitis	Elevated circulating C-reactive protein concentration, Leukocytosis, Recurrent pancreatitis, Panc...	ORPHA:676
Familial Pancreatic Carcinoma	Neoplasm of the liver, Exocrine pancreatic insufficiency, Jaundice, Extrahepatic cholestasis, Hep...	ORPHA:1333
Diaphanospondylodysostosis	Cleft palate, Abnormal liver lobulation, Cystic renal dysplasia, Enlarged kidney, Oligohydramnios...	OMIM:608022
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Villous atrophy, Dehydration, Abnormal intestine morphology	OMIM:251850
Fanconi Anemia, Complementation Group V	Elevated alpha-fetoprotein, Neutropenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia	OMIM:617243
Solitary Fibrous Tumor/Hemangiopericytoma	Hypophosphatemic rickets, Neoplasm of the liver, Abnormality of the peritoneum, Urinary retention...	ORPHA:2126
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Hepatosplenomegaly, Weight loss, Hemophagocytosis, Panniculitis	ORPHA:86884
Glucagonoma	Neoplasm of the pancreas, Hepatomegaly, Extrahepatic cholestasis, Skin rash, Steatorrhea, Abnorma...	ORPHA:97280
Disorder Of Bile Acid Synthesis	Cholestasis, Biliary tract abnormality, Elevated hepatic transaminase, Fat malabsorption, Abnorma...	ORPHA:79168
Focal Facial Dermal Dysplasia Type Iv	Abnormal mast cell morphology, Cleft palate	ORPHA:398189
Maternal Uniparental Disomy Of Chromosome 4	Decreased body weight, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, ...	ORPHA:96180
Hemophagocytic Syndrome Associated With An Infection	Increased circulating ferritin concentration, Neutropenia, Hepatomegaly, Abnormal T cell subset d...	ORPHA:158048
Trichothiodystrophy 3, Photosensitive	Failure to thrive, Increased circulating IgA level, Lymphopenia, Pyloric stenosis, Recurrent infe...	OMIM:616395
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	High palate, Hypocalcemia, Hepatomegaly, Hypoproteinemia, Splenomegaly, Micropenis, Hepatic failu...	ORPHA:1655
Vipoma	Neoplasm of the pancreas, Malabsorption, Neoplasm of the liver, Hypokalemia, Hepatomegaly, Benign...	ORPHA:97282
Goodpasture Syndrome	Cylindruria, Increased blood urea nitrogen, Macroscopic hematuria, Weight loss, Proteinuria, Rena...	OMIM:233450
Diarrhea 12, With Microvillus Atrophy	Villous atrophy, Microvillar PAS-positive secretory granules, Microvillus inclusions, Bronchiectasis	OMIM:619445
Ileal Neuroendocrine Tumor	Extrahepatic cholestasis, Hepatic failure, Iron deficiency anemia, Gastrointestinal obstruction, ...	ORPHA:100078
Jejunal Neuroendocrine Tumor	Extrahepatic cholestasis, Hepatic failure, Iron deficiency anemia, Gastrointestinal obstruction, ...	ORPHA:100077
Inflammatory Bowel Disease 11	Weight loss, Inflammation of the large intestine, Hematochezia	OMIM:191390
Somatostatinoma	Neoplasm of the pancreas, Gallbladder dysfunction, Hepatomegaly, Extrahepatic cholestasis, Steato...	ORPHA:97283
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Failure to thrive, Exocrine pancreatic insufficiency, Hepatomegaly, Aplasia/Hypoplasia of the pan...	ORPHA:456312
Chronic Diarrhea Due To Glucoamylase Deficiency	Malabsorption, Abnormal small intestinal mucosa morphology, Decreased small intestinal mucosa lac...	ORPHA:103907
Abetalipoproteinemia	Abetalipoproteinemia, Fat malabsorption, Acanthocytosis	OMIM:200100
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Elevated circulating C-reactive protein concentration, Orchitis, Leukocytosis, Splenomegaly, Skin...	ORPHA:32960
Mitchell-Riley Syndrome	Annular pancreas, Malabsorption, Duodenal atresia, Hyperbilirubinemia, Intestinal malrotation, Bi...	OMIM:615710
Pancreatic Colipase Deficiency	Cholelithiasis, Megaloblastic anemia, Exocrine pancreatic insufficiency, Steatorrhea, Fat malabso...	ORPHA:309108
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ...	OMIM:263300
Acute Adrenal Insufficiency	Failure to thrive, Normocytic anemia, Recurrent acute respiratory tract infection, Increased circ...	ORPHA:95409
Hyper-Igd Syndrome	Chronic oral candidiasis, Neutrophilia, Leukocytosis, Splenomegaly, Skin rash, Renal angiomyolipo...	OMIM:260920
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased mean corpuscular volume, Hepatocellular necrosis, Failure to thrive, Decreased circulat...	OMIM:618278
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Slender build, Malabsorption, Cachexia, Elevated circulating thymidine concentration, Dysphagia, ...	OMIM:603041
Dyskeratosis Congenita, Autosomal Dominant 2	Failure to thrive, Neutropenia, Leukopenia, Aplastic anemia, Urethral stricture, Esophageal stric...	OMIM:613989
Addison Disease	Failure to thrive, Normocytic anemia, Hyperkalemia, Increased circulating renin level, Hashimoto ...	ORPHA:85138
Spinocerebellar Ataxia 48	Dysphagia, Cachexia, Urinary incontinence	OMIM:618093
Non-Functioning Paraganglioma	Elevated urinary dopamine, Hematuria, Weight loss, Hypercalcemia, Elevated urinary epinephrine, E...	ORPHA:94080
Lujo Hemorrhagic Fever	Odynophagia, Facial edema, Lymphopenia, Leukocytosis, Elevated circulating C-reactive protein con...	ORPHA:319213
Huntington Disease	Weight loss, Abnormal circulating cholesterol concentration, Decreased body mass index, Oral-phar...	ORPHA:399
Familial Colorectal Cancer Type X	Neoplasm of the rectum, Neoplasm of the colon, Malabsorption, Neoplasm of the pancreas, Stomach c...	ORPHA:440437
Juvenile Polyposis Syndrome	Small intestinal polyposis, Stomach cancer, Neoplasm of the small intestine, Hematochezia, Gastro...	ORPHA:2929
Ctcf-Related Neurodevelopmental Disorder	Failure to thrive, Gastroesophageal reflux, Cleft palate, Small for gestational age, Sepsis, Recu...	ORPHA:363611
Riddle Syndrome	Decreased circulating IgA level, Decreased circulating IgG level, Otitis media, Elevated alpha-fe...	ORPHA:420741
Bullous Pemphigoid	Eczema, Weight loss, Recurrent infections, Psoriasiform dermatitis	ORPHA:703
Autoinflammatory Disease, Systemic, X-Linked	Panuveitis, Osteomyelitis, Optic neuritis, Decreased circulating IgG level, Hepatosplenomegaly, D...	OMIM:301081
Cap Polyposis	Atrophic gastritis, Weight loss, Colorectal polyposis, Hematochezia	ORPHA:160148
Erythrokeratodermia Variabilis	Weight loss, Skin rash	ORPHA:317
Inhalational Anthrax	Sepsis	ORPHA:247257
Neuroblastoma, Susceptibility To, 1	Failure to thrive, Abnormality of urine catecholamine level, Elevated urinary vanillylmandelic ac...	OMIM:256700
Abetalipoproteinemia	Failure to thrive, Abnormal circulating apolipoprotein concentration, Hepatomegaly, Hyperbilirubi...	ORPHA:14
Leukocyte Adhesion Deficiency Type Ii	Recurrent gastroenteritis, Keratitis, Failure to thrive, Narrow palate, Abnormal isohemagglutinin...	ORPHA:99843
Isaacs Syndrome	Weight loss	ORPHA:84142
Cystinosis, Nephropathic	Exocrine pancreatic insufficiency, Hepatomegaly, Glycosuria, Hematuria, Proteinuria, Weight loss,...	OMIM:219800
Chronic Beryllium Disease	Lymphocytic interstitial pneumonia, Weight loss, Abnormal proportion of CD4-positive T cells	ORPHA:133
Idiopathic Bronchiectasis	Cachexia, Acute infectious pneumonia, Recurrent lower respiratory tract infections, Recurrent Hae...	ORPHA:60033
Trigonocephaly 1	Meckel diverticulum, Long penis	OMIM:190440
Ring Chromosome 10 Syndrome	Cachexia, Hypocalcemia, Aganglionic megacolon	ORPHA:1438
Pearson Syndrome	Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Corneal stromal edema, Hepatic fail...	ORPHA:699
Attrv30M Amyloidosis	Weight loss, Nephropathy, Abnormal renal physiology	ORPHA:85447
Gm1 Gangliosidosis	Failure to thrive, Gastroesophageal reflux, Macroglossia, Splenomegaly, Aspiration pneumonia, Hep...	ORPHA:354
Pemphigus Vulgaris	Weight loss, Recurrent infections, Recurrent cutaneous abscess formation	ORPHA:704
Oculogastrointestinal Muscular Dystrophy	Malabsorption, Abnormal gastric mucosa morphology, Cachexia, Abnormality of the gastrointestinal ...	ORPHA:1876
Renpenning Syndrome	Anal atresia, High, narrow palate, Cleft palate, Hypospadias, Cachexia	ORPHA:3242
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Narrow palate, Erysipelas, Rectal prolapse, Protein-losing enteropathy, Lymphedema, Periorbital e...	OMIM:235510
Sickle Cell Anemia	Cholelithiasis, Hepatomegaly, Leukocytosis, Splenomegaly, Recurrent bacterial infections, Hematur...	OMIM:603903
Primary Fanconi Renotubular Syndrome	Renal phosphate wasting, Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Bicarbonate-was...	ORPHA:3337
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Cachexia, Weight loss, Hyperlipoproteinemia, Abnormal circulating lipid concentration	ORPHA:1979
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Nephroblastoma	Neoplasm of the liver, Weight loss, Hematuria	ORPHA:654
Urachal Cyst	Dysuria, Elevated circulating C-reactive protein concentration, Leukocytosis, Peritonitis, Absces...	ORPHA:488
Ppoma	Cholelithiasis, Neoplasm of the pancreas, Hepatomegaly, Extrahepatic cholestasis, Intestinal carc...	ORPHA:97278
Marburg Hemorrhagic Fever	Odynophagia, Pancreatitis, Maculopapular exanthema, Elevated circulating creatinine concentration...	ORPHA:99826
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Infection-Related Hemolytic Uremic Syndrome	Pancreatitis, Hyperkalemia, Myocarditis, Pneumonia, Decreased urine output, Generalized edema, Se...	ORPHA:544482
Juvenile Dermatomyositis	Elevated circulating C-reactive protein concentration, Skin rash, Palpebral edema, Elevated circu...	ORPHA:93672
Yellow Fever	Neutrophilia, Hematemesis, Leukocytosis, Hyperbilirubinemia, Skin rash, Pancreatic hyperplasia, E...	ORPHA:99829
Huntington Disease-Like 2	Weight loss	OMIM:606438
Chronic Myeloid Leukemia	Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo...	ORPHA:521
Idiopathic Hypereosinophilic Syndrome	Pancreatitis, Neutrophilia, Eczema, Erythroderma, Portal fibrosis, Joint swelling, Malabsorption,...	ORPHA:3260
Zollinger-Ellison Syndrome	Jaundice, Extrahepatic cholestasis, Duodenal ulcer, Hematochezia, Intestinal obstruction, Peptic ...	ORPHA:913
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Joint swelling, Iridocyclitis, Oligoarthritis, Hepatosplenomegaly, Arthritis, Hip osteoarthritis,...	ORPHA:85408
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Failure to thrive, Defective T cell proliferation, Eosinophilic infiltration of the esophagus, Hy...	OMIM:618213
Hennekam Lymphangiectasia-Lymphedema Syndrome 3	Facial edema, Polyhydramnios, Lymphedema, Protein-losing enteropathy, Edema	OMIM:618154
Parathyroid Carcinoma	Nephrolithiasis, Hypophosphatemia, Pancreatitis, Hypercalciuria, Renal cyst, Peptic ulcer, Renal ...	ORPHA:143
Malignant Atrophic Papulosis	Arteritis, Peritonitis, Gastrointestinal infarctions, Intestinal fistula, Weight loss, Pleural ef...	ORPHA:679
Aredyld Syndrome	Cachexia, Abnormality of the ureter, Hepatomegaly, Splenomegaly	ORPHA:1133
Loeffler Endocarditis	Eosinophilia, Weight loss, Pericarditis	ORPHA:75566
Zygomycosis	Melena, Gastritis, Unusual gastrointestinal infection, Pancreatitis, Acute infectious pneumonia, ...	ORPHA:73263
Ventilator-Induced Diaphragmatic Dysfunction	Sepsis	ORPHA:505395
Lymphoid Interstitial Pneumonia	Failure to thrive, Hepatomegaly, Skin rash, Rheumatoid arthritis, Eczema, Enlarged kidney, Weight...	ORPHA:79128
Sporadic Pheochromocytoma/Secreting Paraganglioma	Elevated urinary dopamine, Hematuria, Weight loss, Proteinuria, Hypercalcemia, Elevated urinary e...	ORPHA:276621
X-Linked Creatine Transporter Deficiency	Ileus, Aganglionic megacolon, Cachexia, Abnormal circulating creatine concentration	ORPHA:52503
Hemorrhagic Fever-Renal Syndrome	Melena, Decreased glomerular filtration rate, Hematuria, Hyperkalemia, Elevated circulating creat...	ORPHA:340
Behçet Disease	Malabsorption, Optic neuritis, Pancreatitis, Orchitis, Splenomegaly, Endocarditis, Myositis, Kera...	ORPHA:117
Harrod Syndrome	High palate, Failure to thrive, High, narrow palate, Hypospadias, Malrotation of small bowel, Pyl...	OMIM:601095
Familial Glucocorticoid Deficiency	Failure to thrive, Recurrent urinary tract infections, Hypernatriuria, Recurrent infections, Hypo...	ORPHA:361
Ethylene Glycol Poisoning	Renal tubular dysfunction, Hypocalcemia, Pulmonary edema, Gastritis, Hematuria, Renal insufficien...	ORPHA:31826
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us