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Gene: Fhip2b MGI:3036290

Gene Summary

Name:

FHF complex subunit HOOK interacting protein 2B

Synonyms:

G430067P06Rik, Rai16, Fam160b2

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	Allele	Zyg	Life Stage
abnormal spleen morphology	Fhip2b^{em1(IMPC)Ccpcz}	HOM	Early adult
enlarged spleen	Fhip2b^{em1(IMPC)Ccpcz}	HOM	Early adult
enlarged heart	Fhip2b^{em1(IMPC)Ccpcz}	HOM	Early adult
abnormal heart morphology	Fhip2b^{em1(IMPC)Ccpcz}	HOM	Early adult
enlarged thymus	Fhip2b^{em1(IMPC)Ccpcz}	HOM	Early adult
abnormal thymus morphology	Fhip2b^{em1(IMPC)Ccpcz}	HOM	Early adult

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Human diseases caused by Fhip2b 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 Fhip2b (0 diseases)
Human diseases predicted to be associated with Fhip2b (877 diseases)

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

The table below shows human diseases predicted to be associated to Fhip2b by phenotypic similarity.

Disease	Matching phenotypes	Source
Cephalin Lipidosis	Abnormality of the spleen	OMIM:212800
Lymphoproliferative Syndrome, X-Linked, 2	Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hepatitis, Hemophagocytosis, ...	OMIM:300635
Tuftsin Deficiency	Abnormality of the spleen	OMIM:191150
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transami...	OMIM:614480
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Ethanolaminosis	Cardiomegaly	OMIM:227150
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Congenital Disorder Of Glycosylation, Type Iip	Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ...	OMIM:616829
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:607765
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Bloody diarrhea, Leukocytosis, Anemia, Elevated circulating C-reactive protein concentration, Ulc...	OMIM:619398
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Diarrhea, Acute hepatic fail...	OMIM:278000
Macrophage Activation Syndrome	Hemophagocytosis, Elevated circulating alanine aminotransferase concentration, Neutropenia, Eleva...	ORPHA:158061
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Cellulitis, Microcytic anemia, Elbow flexion contracture, Hepatosplenomegaly, Pancytopenia, Knee ...	OMIM:604416
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,...	OMIM:613101
Diarrhea 13	Hypoalbuminemia, Vomiting, Elevated circulating hepatic transaminase concentration, Failure to th...	OMIM:620357
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Portal fibrosis, Failure to thrive, In...	OMIM:619868
Lipodystrophy, Congenital Generalized, Type 3	Generalized lipodystrophy, Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hypocalcemia, Red...	OMIM:612526
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Mildly elevated creatine kinase, Elevated circulating hepatic transaminase concentration, Hepatic...	OMIM:618400
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,...	OMIM:620058
Proteasome-Associated Autoinflammatory Syndrome 5	Failure to thrive in infancy, Skin rash, Splenomegaly, Hypertriglyceridemia, Hepatomegaly	OMIM:619175
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypocholesterolemia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly	OMIM:610539
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Glycogen Storage Disease Vi	Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Hyperlipid...	OMIM:232700
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Recurrent otitis media, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lympha...	ORPHA:444463
Immunodeficiency 97 With Autoinflammation	Diarrhea, Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosple...	OMIM:619802
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Diarrhea, Hematochezia, Hep...	OMIM:613812
Chylomicron Retention Disease	Hypoalbuminemia, Hypotriglyceridemia, Vomiting, Failure to thrive, Diarrhea, Malnutrition, Hypoch...	OMIM:246700
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism	OMIM:183350
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati...	OMIM:616828
Hepatitis Delta	Hepatic failure, Hepatitis, Elevated circulating aspartate aminotransferase concentration, Nausea...	ORPHA:402823
Autoimmune Hepatitis	Inflammation of the large intestine, Increased circulating antibody level, Cirrhosis, Glomerulone...	ORPHA:2137
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Increased circulating cortisol level, Abnormal pancr...	ORPHA:139507
Hypereosinophilic Syndrome, Idiopathic	Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly, Eosinophilia, Hepatomegaly, Myelo...	OMIM:607685
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Immunodeficiency 76	Recurrent pneumonia, Lymphopenia, Splenomegaly, Chronic diarrhea, B-cell lymphoma, Lymphadenopath...	OMIM:619164
Morbid Obesity And Spermatogenic Failure	Increased LDL cholesterol concentration, Obesity, Hepatic steatosis, Hypertriglyceridemia, Hyperc...	OMIM:615703
Immunodeficiency 104	Pneumonia, Diarrhea, Gastroesophageal reflux, Eczematoid dermatitis, Failure to thrive secondary ...	OMIM:608971
Chylomicron Retention Disease	Elevated circulating hepatic transaminase concentration, Vomiting, Failure to thrive, Diarrhea, H...	ORPHA:71
Autoinflammation With Infantile Enterocolitis	Hypoalbuminemia, Reduced natural killer cell count, Secretory diarrhea, Failure to thrive, Increa...	OMIM:616050
X-Linked Agammaglobulinemia	Cellulitis, Weight loss, Neutropenia, Chronic otitis media, Recurrent cutaneous abscess formation...	ORPHA:47
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I...	ORPHA:79303
Combined Oxidative Phosphorylation Deficiency 34	Hepatic failure, Vomiting, Failure to thrive, Elevated circulating creatinine concentration, Panc...	OMIM:617872
Combined Oxidative Phosphorylation Deficiency 16	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:615395
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Immunodeficiency 69	Diarrhea, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentration, Hepa...	OMIM:618963
Familial Hemophagocytic Lymphohistiocytosis	Hemophagocytosis, Erythroderma, Neutropenia, Hepatomegaly, Jaundice, Increased circulating interf...	ORPHA:540
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia, Failure to thrive in infancy, Microcytic anemia, Hepatic steatosis, Pancreatitis...	OMIM:618805
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hemophagocytosis, Hepatosplenomegaly, Hyperbilirubinemia, Pancytopenia, Hodgkin lymphoma, Acute m...	ORPHA:158057
Congenital Disorder Of Glycosylation, Type Iir	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ...	OMIM:301045
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Diarrhea, Hepatitis, Failure to ...	ORPHA:169160
Complement Component C1S Deficiency	Hashimoto thyroiditis, Hepatitis	OMIM:613783
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Conjunctivitis, Increased circulating ferritin concentration, Splenomegaly, Ski...	OMIM:603552
Hepatocellular Carcinoma	Micronodular cirrhosis, Subacute progressive viral hepatitis, Hepatocellular carcinoma	OMIM:114550
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Lipodystrophy, Partial, Acquired, Susceptibility To	Loss of subcutaneous adipose tissue from upper limbs, Abnormal circulating lipid concentration, L...	OMIM:608709
Alpha-1-Antitrypsin Deficiency	Hepatic failure, Reduced circulating alpha-1-antitrypsin concentration, Hepatitis, Cholestasis, C...	ORPHA:60
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Neutropenia, Elevated cir...	OMIM:308240
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc...	ORPHA:567983
Galactosemia Iii	Vomiting, Failure to thrive, Splenomegaly, Decreased beta-galactosidase activity, Hepatomegaly, J...	OMIM:230350
Cholesteryl Ester Storage Disease	Hepatic failure, Diarrhea, Nausea and vomiting, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hy...	ORPHA:75234
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Reticuloendotheliosis, X-Linked	Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Patent Ductus Venosus	Hypergalactosemia, Hyperammonemia, Hepatic steatosis, Decreased liver function	OMIM:601466
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Decreased plasm...	OMIM:619048
Trichohepatoenteric Syndrome 2	Decreased circulating iron concentration, Diarrhea, Failure to thrive, Bloody diarrhea, Villous a...	OMIM:614602
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Colitis, Obesity, Cardiomegaly	ORPHA:88643
Bile Acid Synthesis Defect, Congenital, 4	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:214950
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Obesity...	ORPHA:209902
Plin1-Related Familial Partial Lipodystrophy	Hepatic fibrosis, Hepatic steatosis, Reduced subcutaneous adipose tissue, Loss of gluteal subcuta...	ORPHA:280356
Adult-Onset Still Disease	Weight loss, Neutrophilia, Elevated circulating C-reactive protein concentration, Abdominal pain,...	ORPHA:829
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	OMIM:600649
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat...	OMIM:603902
Griscelli Syndrome	Bone marrow hypocellularity, Hepatitis, Abnormal circulating lipid concentration, Ascites, Leukop...	ORPHA:381
Alpha-Heavy Chain Disease	Lymphoma, Ascites, Malabsorption, Abnormal small intestine morphology, Splenomegaly, Hypocalcemia...	ORPHA:100025
Cholestasis-Lymphedema Syndrome	Elevated circulating hepatic transaminase concentration, Erysipelas, Malabsorption, Hyperlipidemi...	OMIM:214900
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Ileal atresia, Colonic atresia, Lymphopenia, Psoriasiform dermatitis, Intestinal obstruction, Rec...	OMIM:243150
Wilson Disease	Elevated circulating hepatic transaminase concentration, Hepatitis, Failure to thrive, Acute hepa...	ORPHA:905
Graft Versus Host Disease	Inflammatory abnormality of the skin, Diarrhea, Hemophagocytosis, Hepatosplenomegaly, Hyperbiliru...	ORPHA:39812
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbilirubinemia, S...	OMIM:620010
Hemochromatosis, Type 4	Increased circulating ferritin concentration, Hepatic steatosis, Anemia, Cirrhosis, Osteoarthriti...	OMIM:606069
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Hepatitis, Increased mean corpuscular hemoglobin concentration, Increased circula...	OMIM:194380
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin	ORPHA:231393
Hyperlipoproteinemia, Type Id	Failure to thrive, Increased circulating chylomicron concentration, Decreased HDL cholesterol con...	OMIM:615947
Primary Biliary Cholangitis	Elevated gamma-glutamyltransferase level, Xanthelasma, Elevated circulating alkaline phosphatase ...	ORPHA:186
Autosomal Agammaglobulinemia	Cellulitis, Verrucae, Bronchiectasis, Hepatitis, Failure to thrive, Diarrhea, Osteomyelitis, Mala...	ORPHA:33110
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Elevated gamma-glutamyltransferase level, Diarrhea, Cholestasis, Hepatosplenomegaly, Hyperbilirub...	ORPHA:247598
Progressive Familial Intrahepatic Cholestasis	Failure to thrive, Cholestasis, Neoplasm, Malabsorption, Splenomegaly, Hypocalcemia, Hepatomegaly...	ORPHA:172
Citrullinemia, Type Ii, Adult-Onset	Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Portal inflammation, Ballooning hepat...	OMIM:603471
Porphyria Cutanea Tarda	Portal inflammation, Hepatic steatosis, Decreased circulating hepcidin concentration, Hematologic...	ORPHA:101330
Combined Oxidative Phosphorylation Deficiency 52	Elevated circulating aspartate aminotransferase concentration, Hyperglycinemia, Hepatic steatosis...	OMIM:619386
Beta-Thalassemia	Cholelithiasis, Hepatitis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Anemia, Thromboc...	ORPHA:848
Fatty Liver Disease, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Fatty Liver Disease, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypocholesterolemia, Elevated circulating aspartate amin...	OMIM:615558
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen...	OMIM:133180
Immunodeficiency With Hyper-Igm, Type 1	Diarrhea, Enteroviral encephalitis, Cirrhosis, Increased circulating IgA level, Neutropenia, Hepa...	OMIM:308230
Citrullinemia, Type Ii, Neonatal-Onset	Elevated gamma-glutamyltransferase level, Hyperbilirubinemia, Hyperthreoninemia, Elevated circula...	OMIM:605814
Lipodystrophy, Familial Partial, Type 6	Abnormal circulating lipid concentration, Hyperlipidemia, Hepatic steatosis, Elevated circulating...	OMIM:615980
Immunodeficiency 42	Hepatomegaly, Hypoplasia of the thymus, Splenomegaly	OMIM:616622
Peroxisome Biogenesis Disorder 3B	Failure to thrive, Hypocholesterolemia, Elevated circulating phytanic acid concentration, Hepatom...	OMIM:266510
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C...	ORPHA:37042
Immunodeficiency 40	Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Elevat...	OMIM:616433
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Minimal change glomerulonephritis, Hematochezia, Intraalveolar phospholipid accumulation, Hepatit...	OMIM:620565
Congenital Disorder Of Glycosylation, Type Il	Hypoalbuminemia, Failure to thrive, Ascites, Hypocholesterolemia, Villous atrophy, Splenomegaly, ...	OMIM:608776
Immunodeficiency 27A	Hypoalbuminemia, Pneumonia, Diarrhea, Increased circulating IgG level, Anorexia, Hepatosplenomega...	OMIM:209950
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,...	OMIM:618528
Secondary Intestinal Lymphangiectasia	Intestinal bleeding, Lymphopenia, Intestinal obstruction, Cirrhosis, Celiac disease, Gastrointest...	ORPHA:90363
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Diarrhea, Vomiting, Decreased liver func...	ORPHA:42
Immunodeficiency 60 And Autoimmunity	Decreased proportion of memory B cells, Decreased circulating IgG level, Bronchiectasis, Pancytop...	OMIM:618394
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pne...	OMIM:619281
Congenital Disorder Of Glycosylation, Type Iih	Failure to thrive in infancy, Elevated circulating aspartate aminotransferase concentration, Inte...	OMIM:611182
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega...	OMIM:237800
Lipodystrophy, Familial Partial, Type 5	Hepatic steatosis, Lipodystrophy, Hypertriglyceridemia, Hepatomegaly, Increased C-peptide level	OMIM:615238
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Hyperlipidemia, Portal hypertension, Splenomegaly, Biliary tract abn...	ORPHA:1414
Immunodeficiency 109 With Lymphoproliferation	Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Pancytopenia, Co...	OMIM:620282
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Microcytic anemia, Hepa...	OMIM:619013
Autoimmune Lymphoproliferative Syndrome	Neoplasm of the skin, Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased prop...	ORPHA:3261
Glycogen Storage Disease Ixb	Diarrhea, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content, Hepatomegaly, Reduced ...	OMIM:261750
Fetal Cytomegalovirus Syndrome	Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Anemia, Thrombo...	ORPHA:294
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Increased LDL cholesterol concentration, Splenomegaly, Hypertriglyceridem...	OMIM:607616
Alpha-1-Antitrypsin Deficiency	Elevated circulating hepatic transaminase concentration, Reduced circulating alpha-1-antitrypsin ...	OMIM:613490
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Hepatitis, Failure to thrive, Eczematoid dermatitis, Increased circulating IgE level, Decreased F...	OMIM:304790
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Diarrhea, Cholestasis, Hepatic steatosis, Increased body weight, Cirrhosis, Hepatomegaly, Esophag...	ORPHA:264580
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hepatic steatosis, Hypertriglyceridemia	ORPHA:436182
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Dilated cardiomyopathy	OMIM:604765
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Inflammation of the large intestine, Diarrhea, Psoriasiform dermatitis, Hepatomegaly, Autoimmune ...	ORPHA:436159
Immunodeficiency 115 With Autoinflammation	Hypoalbuminemia, Decreased circulating IgG level, Verrucae, Eczematoid dermatitis, Elevated hapto...	OMIM:620632
Wolman Disease	Reduced lysosomal acid lipase activity, Vomiting, Failure to thrive, Acute hepatic failure, Splen...	OMIM:620151
Immunodeficiency By Defective Expression Of Mhc Class Ii	Abnormal CD4:CD8 ratio, Diarrhea, Protracted diarrhea, Pancytopenia, Decreased proportion of CD4-...	ORPHA:572
Immunodeficiency, Common Variable, 8, With Autoimmunity	Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto...	OMIM:614700
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating ...	OMIM:615285
Complement Component 4B Deficiency	Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Chron...	OMIM:614379
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Lipe-Related Familial Partial Lipodystrophy	Increased adipose tissue around the neck, Increased intraabdominal fat, Hepatic steatosis, Elevat...	ORPHA:435660
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Decreased circulating carnitine concentration, Gastroesophageal reflux, Hepa...	OMIM:201475
Carnitine Palmitoyltransferase I Deficiency	Elevated circulating hepatic transaminase concentration, Diarrhea, Elevated circulating aspartate...	OMIM:255120
Amoebiasis Due To Entamoeba Histolytica	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Diarrhea, Protracted di...	ORPHA:67
Carnitine Deficiency, Systemic Primary	Decreased circulating carnitine concentration, Diarrhea, Failure to thrive, Vomiting, Elevated ci...	OMIM:212140
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, E...	OMIM:251880
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Failure to thrive, Hypocholesterolemia, Psoriasiform dermatitis, Decreased LDL cholesterol concen...	OMIM:616834
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Hepatomegaly, Abnormal circulating creatine kinase concentration, Elevated circulating hepatic tr...	ORPHA:369840
Hemochromatosis, Type 2B	Hepatic fibrosis, Increased circulating iron concentration, Elevated circulating hepatic transami...	OMIM:613313
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T cells, Hepa...	ORPHA:911
Pseudomyxoma Peritonei	Inflammation of the large intestine, Ascites, Nausea and vomiting, Intestinal obstruction, Hernia...	ORPHA:26790
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra...	OMIM:616860
Lipodystrophy, Familial Partial, Type 4	Lipodystrophy, Lipoatrophy, Hepatic steatosis, Hypertriglyceridemia	OMIM:613877
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Feeding difficulties, Hepatic steatosis, Failur...	ORPHA:26792
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:235555
Combined Oxidative Phosphorylation Deficiency 9	Elevated gamma-glutamyltransferase level, Failure to thrive, Elevated circulating aspartate amino...	OMIM:614582
Immunodeficiency 48	Pneumonia, Failure to thrive, Eczematoid dermatitis, Panhypogammaglobulinemia, Abnormal B cell co...	OMIM:269840
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Diarrhea, Failure to thrive, Splenomegaly, Elevated circulating alkalin...	OMIM:601847
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta...	OMIM:616278
Immunodeficiency 47	Hepatic bridging fibrosis, Decreased circulating total IgG, Chronic decreased circulating total I...	OMIM:300972
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hepatomegaly, Fetal ascites, Splenomegaly	OMIM:619462
Tyrosinemia Type 1	Hepatomegaly, Splenomegaly, Hepatocellular carcinoma	ORPHA:882
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circulating gamma-aminobutyric acid concent...	OMIM:619658
Immunodeficiency 70	Verrucae, Decreased circulating total IgG, Celiac disease, Decreased proportion of CD4-positive h...	OMIM:618969
Avian Influenza	Hypoalbuminemia, Pneumonia, Myelitis, Elevated circulating hepatic transaminase concentration, In...	ORPHA:454836
Immunodeficiency 82 With Systemic Inflammation	Diarrhea, Anoperineal fistula, Pustular rash, Decreased circulating total IgG, Recurrent otitis m...	OMIM:619381
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Mhc Class Ii Deficiency 1	Failure to thrive, Chronic mucocutaneous candidiasis, Protracted diarrhea, Panhypogammaglobulinem...	OMIM:209920
Immunodeficiency, Common Variable, 11	Decreased circulating IgG level, Abnormal T cell count, Inflammation of the large intestine, Fail...	OMIM:615767
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Minimal change glomerulonephritis, Decreased specific pneumococcal antibody level, Impaired lymph...	OMIM:617006
Citrullinemia Type Ii	Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decre...	ORPHA:247585
Liver Failure, Infantile, Transient	Hypoalbuminemia, Decreased circulating IgG level, Elevated circulating hepatic transaminase conce...	OMIM:613070
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Failure to thrive, Decreased liver function, Acute hepatitis, Hyperornithinemia, Hyperammonemia, ...	OMIM:238970
Pancreatic Lipase Deficiency	Steatorrhea, Hypocholesterolemia, Fat malabsorption	OMIM:614338
Congenital Enterovirus Infection	Hypoalbuminemia, Hepatic failure, Fetal ascites, Hepatitis, Cholestasis, Leukopenia, Leukocytosis...	ORPHA:292
Glycogen Storage Disease Ixa1	Elevated circulating hepatic transaminase concentration, Splenomegaly, Hyperuricemia, Hypercholes...	OMIM:306000
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly	OMIM:618852
Congenital Bile Acid Synthesis Defect Type 1	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Failure to ...	ORPHA:79301
Congenital Disorder Of Glycosylation, Type It	Intrahepatic cholestasis, Bifid uvula, Elevated circulating hepatic transaminase concentration, V...	OMIM:614921
Legionnaires Disease	Cellulitis, Bone marrow hypocellularity, Diarrhea, Hepatitis, Lymphopenia, Nausea and vomiting, S...	ORPHA:549
Peroxisomal Acyl-Coa Oxidase Deficiency	Elevated circulating hepatic transaminase concentration, Reduced circulating acyl-CoA oxidase act...	OMIM:264470
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated circulating acylcarnitine concentration, Hepatic failure, Elevated circulating hepatic t...	ORPHA:228305
Trimethylaminuria	Anemia, Splenomegaly, Neutropenia	OMIM:602079
Harderoporphyria	Increased fecal harderoporphyrin, Neonatal hyperbilirubinemia, Vomiting, Increased circulating fe...	OMIM:618892
Immunodeficiency 84	Splenomegaly, B lymphocytopenia	OMIM:619437
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Inflammation of the large in...	ORPHA:562639
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Hemophagocytosis, Increased circulating ferritin concentration, ...	OMIM:613011
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic ...	OMIM:602347
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat...	OMIM:605911
Acquired Partial Lipodystrophy	Lymphocytosis, Lipoatrophy, Hepatic steatosis	ORPHA:79087
Secondary Short Bowel Syndrome	Diarrhea, Vomiting, Failure to thrive, Volvulus, Malnutrition, Cholestasis, Malabsorption, Villou...	ORPHA:95427
Primary Sclerosing Cholangitis	Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho...	ORPHA:171
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Pancreatitis, Hepatic steatosis, Lipoatrophy	ORPHA:79084
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Enlarged tonsils, Large for gestational age, Truncal obesity, Increased hepatic glycogen content	ORPHA:293964
Immunodeficiency 56	Hepatic failure, Recurrent pneumonia, Failure to thrive, Panhypogammaglobulinemia, Recurrent otit...	OMIM:615207
Cidec-Related Familial Partial Lipodystrophy	Hepatic steatosis, Loss of gluteal subcutaneous adipose tissue, Lipodystrophy, Pancreatitis, Loss...	ORPHA:435651
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Lymphoma, Splenomegaly, B-cell lymphoma, Weight loss, Lymphadenopathy, Anorexia, Hepatomegaly, Br...	ORPHA:86893
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatic fibrosis, Inflammation of the large intestine, Elevated circulating hepatic transaminase ...	OMIM:615895
Ras-Associated Autoimmune Leukoproliferative Disorder	Lymphoma, Pancytopenia, Splenomegaly, Follicular hyperplasia, Increased circulating antibody leve...	OMIM:614470
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Diarrhea, Lymphoma, ...	OMIM:240500
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ...	OMIM:618641
Glycosylphosphatidylinositol Biosynthesis Defect 1	Hepatomegaly, Portal hypertension, Splenomegaly, Portal vein thrombosis	OMIM:610293
Infantile Liver Failure Syndrome 1	Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute hepatic failure...	OMIM:615438
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:617068
Hepatoportal Sclerosis	Hypersplenism, Hyperbilirubinemia, Jaundice, Esophageal varix, Gastrointestinal hemorrhage, Ascit...	ORPHA:64743
Idiopathic Copper-Associated Cirrhosis	Cirrhosis, Hepatic steatosis, Increased circulating copper concentration, Copper accumulation in ...	ORPHA:209919
Congenital Disorder Of Glycosylation, Type Iil	Elevated gamma-glutamyltransferase level, Inflammation of the large intestine, Elevated circulati...	OMIM:614576
Activated Pi3K-Delta Syndrome	Pneumonia, Recurrent tonsillitis, Failure to thrive, Lymphoma, Recurrent otitis media, Decreased ...	ORPHA:397596
Familial Cold Autoinflammatory Syndrome 2	Recurrent aphthous stomatitis, Leukocytosis, Splenomegaly, Skin rash, Lymphadenopathy, Arthritis,...	OMIM:611762
Ceroid storage disease	Abnormality of the spleen	OMIM:214200
Congenital Generalized Lipodystrophy	Failure to thrive, Hepatic steatosis, Adipose tissue loss, Cirrhosis, Hypercholesterolemia, Lipod...	ORPHA:528
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu...	ORPHA:369
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hepatic failure, Hepatic steatosis	OMIM:261650
Lipodystrophy, Familial Partial, Type 3	Hepatic steatosis, Hyperuricemia, Hypertriglyceridemia, Reduced subcutaneous adipose tissue, Loss...	OMIM:604367
Severe Neurodegenerative Syndrome With Lipodystrophy	Generalized lipodystrophy, Hepatic steatosis, Reduced subcutaneous adipose tissue, Cirrhosis, Hyp...	ORPHA:363400
Sea-Blue Histiocyte Disease	Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Lipodystrophy, Congenital Generalized, Type 4	Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Failure to thrive, ...	OMIM:613327
Leishmaniasis	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Pancytopenia, Leukopeni...	ORPHA:507
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe...	OMIM:620135
Combined Oxidative Phosphorylation Deficiency 21	Hyperprolinemia, Hyperalaninemia, Hepatic steatosis	OMIM:615918
Immunodeficiency 32B	Hypoalbuminemia, Pneumonia, Failure to thrive, Impaired oxidative burst, Abnormal circulating IgG...	OMIM:226990
Congenital Disorder Of Glycosylation, Type Ia	Hypoalbuminemia, Hepatic fibrosis, Decreased circulating IgG level, Elevated circulating hepatic ...	OMIM:212065
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Diarrhea, Vomiting, Hepatitis, Lymphopenia, Leukopenia, Increased ci...	ORPHA:319218
Hypermethioninemia Due To Adenosine Kinase Deficiency	Hypermethioninemia, Portal fibrosis, Elevated circulating S-adenosyl-L-homocysteine concentration...	OMIM:614300
Bacterial Toxic-Shock Syndrome	Cellulitis, Diarrhea, Abscess, Glomerulonephritis, Abdominal pain, Recurrent skin infections, Ele...	ORPHA:36234
Immunodeficiency 114, Folate-Responsive	Atopic dermatitis, Decreased circulating IgG level, Increased circulating ferritin concentration,...	OMIM:620603
Autoinflammatory Disease, Systemic, With Vasculitis	Elevated gamma-glutamyltransferase level, Diarrhea, Cholestasis, Hepatosplenomegaly, Abnormal cir...	OMIM:620376
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Lipodystrophy, Elevat...	OMIM:615381
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Vomiting, Elbow flexion contracture, Inguinal hernia, Knee flexion contracture, Hip contracture, ...	OMIM:616809
Akt2-Related Familial Partial Lipodystrophy	Increased intraabdominal fat, Hepatic steatosis, Lipodystrophy, Hypertriglyceridemia, Hepatomegaly	ORPHA:79085
Galactose Epimerase Deficiency	Nausea and vomiting, Splenomegaly, Weight loss, Hepatomegaly, Jaundice, Feeding difficulties	ORPHA:79238
Gracile Syndrome	Increased circulating ferritin concentration, Cholestasis, Hepatic steatosis, Cirrhosis, Elevated...	ORPHA:53693
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice	OMIM:224100
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating iron concentration, Increased circulating ferritin concentration, Reduced r...	ORPHA:766
Hepatitis, Fulminant Viral, Susceptibility To	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hashimoto thyroiditis, ...	OMIM:618549
Eosinophilic Gastroenteritis	Hypoalbuminemia, Allergic rhinitis, Atopic dermatitis, Diarrhea, Hematochezia, Vomiting, Protein-...	ORPHA:2070
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Protein-losing enteropathy, Diarrhea, Vomiting, Failure to thrive, Abdominal col...	OMIM:615863
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen...	OMIM:613404
Congenital Bile Acid Synthesis Defect Type 4	Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Elevated circulating hepatic tra...	ORPHA:79095
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Colonic eosinophil...	OMIM:617638
Immunodeficiency 52	Recurrent pneumonia, Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia,...	OMIM:617514
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated circulating hepatic transaminase concentration, Diarrhea, Gastroesophageal reflux, Vomit...	ORPHA:298
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:66661
Familial Chylomicronemia Syndrome	Failure to thrive, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipi...	ORPHA:444490
Splenoportal Vascular Anomalies	Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system	OMIM:271500
Familial Partial Lipodystrophy, Dunnigan Type	Cellulitis, Splenomegaly, Hepatic steatosis, Lipodystrophy, Pancreatitis, Loss of subcutaneous ad...	ORPHA:2348
Apolipoprotein C-Ii Deficiency	Increased circulating chylomicron concentration, Splenomegaly, Pancreatitis, Hypercholesterolemia...	OMIM:207750
Interstitial Lung And Liver Disease	Hepatic fibrosis, Hepatic failure, Elevated gamma-glutamyltransferase level, Intraalveolar phosph...	OMIM:615486
Ficolin 3 Deficiency	Verrucae, Necrotizing enterocolitis	OMIM:613860
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Elevated gamma-glutamyltransferase l...	OMIM:617093
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Decreased proportion of memory B cells, Reduced natural killer cell count, Inflammation of the la...	OMIM:301074
Shigellosis	Microangiopathic hemolytic anemia, Cholestasis, Abscess, Anorexia, Abnormal blood ion concentrati...	ORPHA:810
Immunodeficiency, Common Variable, 1	Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Diarrhea,...	OMIM:607594
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Panni...	OMIM:618398
Macrocephaly-Intellectual Disability-Autism Syndrome	Thyroid carcinoma, Intestinal polyposis, Hepatic steatosis, Multiple lipomas, Lymphoid nodular hy...	ORPHA:210548
Abetalipoproteinemia	Hyperbilirubinemia, Acanthocytosis, Hepatic steatosis, Cirrhosis, Hepatomegaly, Hypotriglyceridem...	ORPHA:14
Potocki-Lupski Syndrome	Gastroesophageal reflux, Failure to thrive, Oral-pharyngeal dysphagia, Hypocholesterolemia, Feedi...	OMIM:610883
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Gastroesophageal reflux, Hepatitis, Failure to thrive in infancy, Hypersplenism, Pancytopenia, Po...	OMIM:613385
Lipodystrophy, Familial Partial, Type 2	Increased adipose tissue around the neck, Decreased HDL cholesterol concentration, Increased faci...	OMIM:151660
Inflammatory Bowel Disease 29	Ulcerative colitis, Crohn's disease	OMIM:618077
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hepatic steatosis, Feeding difficulties, Bloody diarrhea	OMIM:615119
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Lymphoma, Recurrent otitis media, Decrease...	OMIM:300853
Immunodeficiency 57 With Autoinflammation	Reduced natural killer cell count, Inflammation of the large intestine, Diarrhea, Failure to thri...	OMIM:618108
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Cellulitis, Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating I...	OMIM:615513
Ddost-Cdg	Gastroesophageal reflux, Elevated circulating hepatic transaminase concentration, Failure to thri...	ORPHA:300536
Drug Reaction With Eosinophilia And Systemic Symptoms	Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Inters...	ORPHA:139402
Combined Saposin Deficiency	Hepatomegaly, Splenomegaly, Feeding difficulties, Abnormal glycosphingolipid metabolism	OMIM:611721
Caroli Disease	Elevated gamma-glutamyltransferase level, Cholestasis, Elevated circulating alkaline phosphatase ...	ORPHA:53035
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Recurrent pneumonia, Recurrent tonsillitis, Granuloma, Lymphadenitis, Eczematoid dermatitis, Anal...	OMIM:618935
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatic bridging fibrosis, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Cholestasi...	OMIM:619662
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated circulating hepatic transaminase concentration, Failure to thrive, Conjunctivitis, Lymph...	OMIM:617591
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Splenomegaly	ORPHA:417
Sepsis In Premature Infants	Diarrhea, Vomiting, Abdominal distention, Decreased liver function, Increased circulating interle...	ORPHA:90051
Coproporphyria, Hereditary	Vomiting, Diarrhea, Increased fecal coproporphyrin 3, Splenomegaly, Increased fecal coproporphyri...	OMIM:121300
Pparg-Related Familial Partial Lipodystrophy	Loss of facial adipose tissue, Hepatic steatosis, Splenomegaly, Hyperuricemia, Cirrhosis, Pancrea...	ORPHA:79083
Immunodeficiency 87 And Autoimmunity	Elevated gamma-glutamyltransferase level, Cholestasis, Lymphopenia, Decreased CD4:CD8 ratio, Hepa...	OMIM:619573
Masp2 Deficiency	Recurrent pneumonia, Ulcerative colitis	OMIM:613791
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat...	ORPHA:71212
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Gastrointestinal infarctions, Abnormality of the liver, Splenomegaly...	ORPHA:91138
5-Oxoprolinase Deficiency	Diarrhea, Vomiting, Reduced circulating 5-oxoprolinase activity, Enterocolitis, Abdominal pain	OMIM:260005
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated circulating hepatic transaminase concentration, Decreased circulating carnitine concentr...	OMIM:201450
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Cholestatic liver disease, Giant cell hepatitis, Elevated gamma-glutamyltransferase level, Elevat...	OMIM:208085
Sandhoff Disease	Hepatomegaly, Splenomegaly, Failure to thrive, Abnormal glycosphingolipid metabolism	ORPHA:796
Dpm1-Cdg	High, narrow palate, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, D...	ORPHA:79322
Lipodystrophy, Familial Partial, Type 1	Increased subcutaneous truncal adipose tissue, Increased adipose tissue around the neck, Increase...	OMIM:608600
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level...	OMIM:618534
Dominant Beta-Thalassemia	Hepatic fibrosis, Abnormality of iron homeostasis, Diarrhea, Reduced hemoglobin A, Extramedullary...	ORPHA:231226
Wolman Disease	Hepatic failure, Malnutrition, Ascites, Nausea and vomiting, Splenomegaly, Cachexia, Anemia, Abdo...	ORPHA:75233
Congenital Toxoplasmosis	Ascites, Cardiomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Anemia, Jaundice	ORPHA:858
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Unconjugated hyperbilirubinemia, Reduced red cell pyruvate kinase level, Erythroi...	OMIM:266200
Neutral Lipid Storage Disease With Myopathy	Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Hepatic steatosis,...	OMIM:610717
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Cholestasis, Progressive Familial Intrahepatic, 1	Cholelithiasis, Diarrhea, Failure to thrive, Splenomegaly, Cirrhosis, Intrahepatic cholestasis wi...	OMIM:211600
Hemochromatosis, Type 2A	Increased circulating iron concentration, Increased circulating ferritin concentration, Splenomeg...	OMIM:602390
Cyclic Neutropenia	Cellulitis, Recurrent tonsillitis, Periodontitis, Cervical lymphadenopathy, Lymphopenia, Cyclic n...	ORPHA:2686
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Hepatitis, Acute hepatic failure, Failure to thrive in infancy, Hepatosplenomegaly, Hypersplenism...	ORPHA:228426
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Diarrhea, Failure to thrive, Recurrent otitis media, Decreased CD4:CD8 ratio, Splenomegaly, Autoi...	OMIM:618495
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Decreased circulating IgG level, Diarrhea, Eczematoid dermatitis, Lymphopenia...	OMIM:616100
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Decreased circulating IgG level, Inflammation of the large intestine, Failure to thrive, Eczemato...	ORPHA:98813
Isolated Sedoheptulokinase Deficiency	Cholestatic liver disease, Hepatitis, Cholestasis, Portal hypertension, Inguinal hernia, Anemia, ...	ORPHA:440713
Immunodeficiency 37	Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Decreased circu...	OMIM:616098
Melioidosis	Cellulitis, Pneumonia, Brain abscess, Cutaneous abscess, Hepatitis, Foot osteomyelitis, Parotitis...	ORPHA:31202
Squalene Synthase Deficiency	Failure to thrive in infancy, Hypocholesterolemia, Elbow flexion contracture, Knee flexion contra...	OMIM:618156
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Allergic rhinitis, Failure to thrive, Malnutrition, Exocrine pancreatic insufficiency, Splenomega...	OMIM:612714
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia	ORPHA:721
Congenital Isolated Acth Deficiency	Prolonged neonatal jaundice, Decreased circulating cortisol level, Hyponatremia, Hepatitis	ORPHA:199296
Aicardi-Goutieres Syndrome 7	Diarrhea, Pancytopenia, Hepatic steatosis, Chilblains, Increased circulating antibody level, Weig...	OMIM:615846
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Failure to thrive, Hemophagocytosis, Increased circulating ferritin concentratio...	OMIM:267700
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce...	ORPHA:99901
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Acute hepat...	ORPHA:131
Lysosomal Acid Lipase Deficiency	Diarrhea, Xanthelasma, Hepatosplenomegaly, Hypersplenism, Nausea and vomiting, Elevated circulati...	ORPHA:275761
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Enamel hypoplasia, Hepatitis	ORPHA:363523
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Diarrhea, Pituitary adenoma, Hepatitis, Failure to thrive, Celiac disease, Nau...	ORPHA:199299
Cutaneous Photosensitivity And Colitis, Lethal	Colitis, Diarrhea	OMIM:219095
Sweet Syndrome	Inflammation of the large intestine, Predominantly dermal neutrophilic infiltrate, Chronic lympha...	ORPHA:3243
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Inflammatory Bowel Disease 28, Autosomal Recessive	Hematochezia, Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis	OMIM:613148
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatic failure, Increased hepatic echogenicity, Hepatic steatosis, Low plasma citrulline, Elevat...	OMIM:261680
Maternal Uniparental Disomy Of Chromosome 4	Diarrhea, Malnutrition, Hypocholesterolemia, Abnormal erythrocyte morphology, Acanthocytosis, Abe...	ORPHA:96180
Schnitzler Syndrome	Lymphoma, Leukocytosis, Splenomegaly, Skin rash, Anemia, Lymphadenopathy, Arthritis, Hepatomegaly...	ORPHA:37748
Q Fever	Hepatosplenomegaly, Increased circulating antibody level, Weight loss, Anorexia, Hepatomegaly, En...	ORPHA:781
Autoinflammation, Immune Dysregulation, And Eosinophilia	Atopic dermatitis, Failure to thrive, Hepatosplenomegaly, Hepatic cysts, Colonic eosinophilia, Eo...	OMIM:618999
Glycogen Storage Disease Ixc	Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen...	OMIM:613027
Diarrhea 8, Secretory Sodium, Congenital	Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium, Abdominal distention	OMIM:616868
Aicardi-Goutieres Syndrome 6	Chilblains, Splenomegaly, Increased circulating Interferon-alpha concentration, Thrombocytopenia,...	OMIM:615010
Combined Oxidative Phosphorylation Deficiency 19	Elevated gamma-glutamyltransferase level, Gastroesophageal reflux, Failure to thrive, Elevated ci...	OMIM:615595
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Anemia, Weight loss, L...	ORPHA:100024
Lymphoproliferative Syndrome 2	Recurrent pneumonia, Aplastic anemia, Hemophagocytosis, Lymphoma, Ascites, Hepatosplenomegaly, Pa...	OMIM:615122
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Umbilical hernia, Cholestasis, Portal hyperte...	OMIM:610199
Hurler-Scheie Syndrome	Cardiomyopathy, Abnormal heart valve morphology, Splenomegaly, Abnormality of the tonsils, Hepato...	ORPHA:93476
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Failure to thrive, Anorexia, Nausea and vomiting, Hyperammonemia, Splenomegaly, Anemia, Pancreati...	ORPHA:79312
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hepatomegaly, Hypocholesterolemia, Feeding difficulties in infancy	OMIM:618810
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Xanthelasma, Increased LDL cholesterol concentration, Ob...	ORPHA:412
Aspergillosis	Pneumonia, Keratitis, Hepatitis, Increased circulating IgE level, Osteomyelitis, Infectious encep...	ORPHA:1163
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Portal fibrosis, Secretory diarrhea, Failure to thrive, Cholestasis, Villous at...	OMIM:619377
Griscelli Syndrome Type 2	Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenomegaly, Nausea and vomiting, Lymphadenopath...	ORPHA:79477
Inflammatory Bowel Disease (Crohn Disease) 1	Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct...	OMIM:266600
Anemia, Hypochromic Microcytic, With Iron Overload 2	Increased circulating ferritin concentration, Sideroblastic anemia, Splenomegaly, Anemia, Elevate...	OMIM:615234
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Autoimmune Polyendocrine Syndrome, Type Ii	Thymoma, Hepatitis, Chronic mucocutaneous candidiasis, Exocrine pancreatic insufficiency, Keratoc...	OMIM:269200
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Gastroesophageal reflux, Failure to thrive, Decreased liver function, Abnormal circulating enzyme...	ORPHA:70472
Caspase 8 Deficiency	Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Failure to thrive, Decreased C...	OMIM:607271
T-Cell Immunodeficiency With Thymic Aplasia	Pneumonia, Diarrhea, Failure to thrive, Eczematoid dermatitis, Hypocalcemic tetany, Malabsorption...	ORPHA:83471
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Lymphopenia, Skin rash, Thrombocytopenia, Ileal ulcer, Colitis, Hemolytic anemia, Anterior uveitis	OMIM:616744
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Recurrent otitis media, Facial papilloma, Autoimmune hemolytic anemia, ...	OMIM:619220
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Partial absence of specific antibody respon...	OMIM:619824
Pfapa Syndrome	Malabsorption, Nausea and vomiting, Splenomegaly, Infectious encephalitis, Weight loss, Lymphaden...	ORPHA:42642
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Obesity And Hypopigmentation	Obesity, Hepatic steatosis	OMIM:620195
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos...	OMIM:615631
Neutral Lipid Storage Disease With Ichthyosis	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Abnormal circula...	ORPHA:98907
Aggressive Systemic Mastocytosis	Diarrhea, Hepatosplenomegaly, Hypersplenism, Pancytopenia, Elevated circulating alkaline phosphat...	ORPHA:98850
Omenn Syndrome	Pneumonia, Severe B lymphocytopenia, Diarrhea, Failure to thrive, Splenomegaly, Hypoplasia of the...	OMIM:603554
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Inflammatory Bowel Disease 3	Ulcerative colitis	OMIM:604519
Inflammatory Bowel Disease 21	Ulcerative colitis	OMIM:612354
Infantile Sialic Acid Storage Disease	Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes	OMIM:269920
B4Galt1-Cdg	Elevated circulating hepatic transaminase concentration, Inflammatory abnormality of the skin, Di...	ORPHA:79332
Carnitine-Acylcarnitine Translocase Deficiency	Reduced tissue carnitine-acylcarnitine translocase activity, Elevated circulating hepatic transam...	OMIM:212138
Acquired Generalized Lipodystrophy	Lymphoma, Abnormal circulating lipid concentration, Generalized lipodystrophy, Hepatic steatosis,...	ORPHA:79086
Syndromic Diarrhea	Hepatic fibrosis, Intractable diarrhea, Bloody diarrhea, Panhypogammaglobulinemia, Lymphopenia, A...	ORPHA:84064
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Inflammatory abnormality of the skin, Diarrhea, Lymphopenia, Hepatosplenomegaly, Abnormal circula...	ORPHA:391487
Glycogen Storage Disease Ib	Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Red...	OMIM:232220
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Inflammation of the large intestine, Diarrhea, Periodontitis, Xanthelasma, Hepatic steatosis, Hep...	ORPHA:79259
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:541423
Wilson Disease	Hypouricemia, Acute hepatic failure, Hyperbilirubinemia, Hepatic steatosis, Cirrhosis, Elevated c...	OMIM:277900
Congenital Disorder Of Glycosylation, Type Iij	Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Recu...	OMIM:613489
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Macroorchidism	OMIM:300886
Mpi-Cdg	Hypoalbuminemia, Hepatic fibrosis, Gastrointestinal hemorrhage, Vomiting, Diarrhea, Failure to th...	ORPHA:79319
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hepatomegaly, Macrovesicular hepatic steatosis, Failure to thrive	OMIM:618234
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Hodgkin lymphoma, Decreased proportion of class-switched memory B cells, Coombs-pos...	OMIM:619375
Systemic-Onset Juvenile Idiopathic Arthritis	Skin rash, Splenomegaly, Elevated circulating C-reactive protein concentration, Arthritis, Lympha...	ORPHA:85414
Alg12-Cdg	Abnormal circulating IgG level, Partial absence of specific antibody response to Haemophilus infl...	ORPHA:79324
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Thymoma, Aplasia/Hypoplasia of the spleen, Biliary cirrhosis, Non-caseating e...	ORPHA:227990
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Elevated gamma-glutamyltransferase level, Elevated cir...	OMIM:619463
Immunodeficiency 92	Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta...	OMIM:619652
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Vomiting, Failure to thrive, Polysplenia, Exocrine p...	OMIM:619418
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Diarrhea, Microangiopathic hemolytic anemia, Abdominal pain, Unconjugated hyperbilirubinemia, Rec...	ORPHA:90038
Follicular Lymphoma	Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy	ORPHA:545
Bile Acid Malabsorption, Primary, 2	Elevated gamma-glutamyltransferase level, Periportal fibrosis, Decreased circulating chenodeoxych...	OMIM:619481
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Diarrhea, Lipid accumulation in hepatocytes, Feeding difficulties in infancy, Elevated circulatin...	OMIM:608836
Ciliary Dyskinesia, Primary, 53	Polysplenia, Abdominal situs inversus, Situs inversus totalis, Patent foramen ovale, Cardiomegaly...	OMIM:620642
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hemo...	OMIM:603553
Zygomycosis	Cellulitis, Diarrhea, Ileitis, Pustule, Hematological neoplasm, Acute infectious pneumonia, Neutr...	ORPHA:73263
Hyperlipoproteinemia, Type I	Lactescent serum, Vomiting, Increased circulating chylomicron concentration, Hepatosplenomegaly, ...	OMIM:238600
Congenital Macroglossia	Abnormal hepatic glycogen storage, Macroglossia, Neurofibroma	ORPHA:2430
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Unconjugated hyperbilirubinemia, Leukocytosis, Splenomegaly, Reticulocytosis, Anisocytosis, Heinz...	OMIM:300908
Gaucher Disease Type 1	Hepatosplenomegaly, Hypersplenism, Pancytopenia, Increased circulating antibody level, Cirrhosis,...	ORPHA:77259
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Diarrhea, Micronodular cirrho...	OMIM:619849
Inflammatory Bowel Disease (Crohn Disease) 30	Protein-losing enteropathy, Vomiting, Esophagitis, Pancolitis, Duodenitis, Ileitis, Abnormal inte...	OMIM:619079
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Cellulitis, Inflammation of the large intestine, Recurrent pneumo...	OMIM:617718
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Immunodeficiency 7	Diarrhea, Failure to thrive, Recurrent otitis media, Hypereosinophilia, Splenomegaly, Autoimmune ...	OMIM:615387
Cinca Syndrome	Hepatosplenomegaly, Leukocytosis, Skin rash, Eosinophilia, Anemia, Lymphadenopathy, Arthritis, El...	OMIM:607115
Primary Myelofibrosis	Increased circulating lactate dehydrogenase concentration, Extramedullary hematopoiesis, Anorexia...	ORPHA:824
Classic Mycosis Fungoides	Neoplasm of the skin, Eczematoid dermatitis, Lymphoma, Abnormal lymphocyte morphology, Splenomega...	ORPHA:2584
Gaucher Disease Type 2	Hepatomegaly, Flexion contracture, Dysphagia, Splenomegaly	ORPHA:77260
Tangier Disease	Hypocholesterolemia, Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Left ventricular ...	ORPHA:31150
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Splenomegaly, Reduced haptoglobin level, Reticulocytosis	OMIM:612126
Lichen Planopilaris	Abnormal intestine morphology, Hepatitis, Neoplasm of the oral cavity	ORPHA:525
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatitis, Decreased li...	ORPHA:415
Pediatric Hepatocellular Carcinoma	Hepatic fibrosis, Vomiting, Hepatic necrosis, Portal vein thrombosis, Hepatomegaly, Abdominal pai...	ORPHA:33402
Familial Atrial Myxoma	Pulmonic valve myxoma, Bacterial endocarditis, Cholestasis, Ascites, Cardiomegaly, Cardiac myxoma...	ORPHA:615
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Hepatosplenomegaly, Chronic hepatitis, Feeding difficulties...	ORPHA:3260
Epidermolysis Bullosa Acquisita	Abdominal pain, Atypical scarring of skin, Inflammation of the large intestine	ORPHA:46487
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Celiac ...	ORPHA:183675
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Hyperbili...	OMIM:616689
Aicardi-Goutieres Syndrome 9	Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failu...	OMIM:619487
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Splenomegaly, Cardiomyopathy	OMIM:608540
Autoinflammation With Arthritis And Dyskeratosis	Failure to thrive, Laryngeal papilloma, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic ane...	OMIM:617388
Tafro Syndrome	Increased circulating lactate dehydrogenase concentration, Increased circulating interleukin 6 co...	ORPHA:457077
Heme Oxygenase 1 Deficiency	Nephritis, Increased circulating lactate dehydrogenase concentration, Increased circulating inter...	OMIM:614034
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg...	OMIM:603903
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Cholecystitis, Reticulocytos...	OMIM:235700
X-Linked Sideroblastic Anemia	Anemia, Abnormality of iron homeostasis, Elevated circulating hepatic transaminase concentration,...	ORPHA:75563
Dehydrated Hereditary Stomatocytosis	Neonatal hyperbilirubinemia, Anemia of inadequate production, Increased circulating hemoglobin co...	ORPHA:3202
Visceral Myopathy 2	Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m...	OMIM:619350
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Elevated gamma-glutamyltransferase level, Diarrhea, Cholestasis, Acute hepatic failure, Hepatic s...	OMIM:256810
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Increased adipose tissue around the neck, Decreased HDL cholesterol concentration, Increased faci...	ORPHA:280365
Agammaglobulinemia, X-Linked	Recurrent otitis media, Lymph node hypoplasia, Prostatitis, Neutropenia, Epididymitis, Pyoderma, ...	OMIM:300755
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Thymoma, Aplasia/Hypoplasia of the spleen, Biliary cirrhosis, Non-caseating e...	ORPHA:227982
Ornithine Transcarbamylase Deficiency	Hyperammonemia, Hepatic failure, Splenomegaly, Pyloric stenosis	ORPHA:664
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c...	OMIM:617156
Cryohydrocytosis	Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis	OMIM:185020
Inflammatory Bowel Disease 13	Inflammation of the large intestine	OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19	Inflammation of the large intestine	OMIM:612278
Neuraminidase Deficiency	Cardiomyopathy, Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, Bone-m...	OMIM:256550
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	High, narrow palate, Elevated circulating acylcarnitine concentration, Hepatic failure, Decreased...	ORPHA:228308
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Lymphoma, Neoplasm, Splenomegaly, Skin rash, Weight loss, Lymphadeno...	ORPHA:391
Relapsing Fever	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	ORPHA:91547
Sitosterolemia 1	Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Increased circulating lactate dehyd...	OMIM:210250
Immunodeficiency, Common Variable, 7	Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag...	OMIM:614699
Microsporidiosis	Lymphadenitis, Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Ke...	ORPHA:2552
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Diarrhea, Vomiting, Ab...	ORPHA:79240
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega...	OMIM:616217
Indolent Systemic Mastocytosis	Mastocytosis, Elevated total serum tryptase, Increased proportion of CD25+ mast cells, Splenomega...	ORPHA:98848
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Splenomegaly, Hepatomegaly	OMIM:616719
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Increased circulating lactate dehydrogenase concentration, E...	OMIM:224120
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Diarrhea, Lymphopenia, Lymph node hypoplasia, Decreased proportion of CD4-positive helper T cells...	ORPHA:276
Bile Acid Conjugation Defect 1	Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Elevated circulat...	OMIM:619232
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Lymphopenia, Leukopenia, Splenomegaly, Decreased circulating tot...	OMIM:620210
Isolated Biliary Atresia	Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans...	ORPHA:30391
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly	OMIM:252920
Caroli Syndrome	Hypersplenism, Hyperbilirubinemia, Congenital hepatic fibrosis, Elevated circulating alkaline pho...	ORPHA:480520
Laterality Defects, Autosomal Dominant	Asplenia, Situs inversus totalis	OMIM:601086
Hirschsprung Disease, Susceptibility To, 1	Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Enterocolitis, Constipatio...	OMIM:142623
Autoimmune Lymphoproliferative Syndrome, Type Iia	Follicular hyperplasia, Increased circulating IgA level, Hepatomegaly, Autoimmune thrombocytopeni...	OMIM:603909
Fructose-1,6-Bisphosphatase Deficiency	Neonatal hyperbilirubinemia, Elevated circulating hepatic transaminase concentration, Diarrhea, V...	ORPHA:348
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Vomiting, Acute hepatic steatosis, Failure to thrive, Reduced 3-methylcrotonyl CoA carboxylase ac...	OMIM:210200
Anemia, Congenital Dyserythropoietic, Type Iv	Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubinemia, Reduced haptoglobin level, A...	OMIM:613673
Desmoplastic Small Round Cell Tumor	Abdominal distention, Ascites, Ileus, Nausea and vomiting, Cachexia, Weight loss, Anemia, Lymphad...	ORPHA:83469
Congenital Disorder Of Glycosylation, Type Ie	High, narrow palate, Ankle flexion contracture, Elevated circulating hepatic transaminase concent...	OMIM:608799
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Anemia, Pericarditis	ORPHA:163596
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Cellulitis, Decreased circulating IgA level, Interstitial pneumonitis, Enterocolitis, Decreased p...	OMIM:614878
Autoimmune Lymphoproliferative Syndrome	Chronic noninfectious lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia, Follicular hype...	OMIM:601859
Hemophagocytic Syndrome Associated With An Infection	Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Increased circulating ...	ORPHA:158048
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Pneumonia, Failure to thrive, Panhypogammag...	OMIM:602450
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl...	ORPHA:2585
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E...	OMIM:618052
Hemochromatosis, Type 1	Cardiomyopathy, Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Cirrhosis, Testicular atrophy,...	OMIM:235200
Spherocytosis, Type 4	Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:612653
Tangier Disease	Decreased HDL cholesterol concentration, Splenomegaly, Elevated circulating apolipoprotein A-II c...	OMIM:205400
Aicardi-Goutieres Syndrome 4	Elevated circulating hepatic transaminase concentration, Pancytopenia, Hepatosplenomegaly, Spleno...	OMIM:610333
Biliary Atresia, Extrahepatic	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Unconjugated hyperbilir...	OMIM:210500
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:79292
Niemann-Pick Disease, Type A	Vomiting, Failure to thrive, Sea-blue histiocytosis, Ascites, Elevated circulating aspartate amin...	OMIM:257200
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Diarrhea, Failure to thrive, Hepatocellular necrosis, Hepatosple...	OMIM:618278
Cronkhite-Canada Syndrome	Gastrointestinal carcinoma, Diarrhea, Furrowed tongue, Stomach cancer, Intestinal polyposis, Neop...	ORPHA:2930
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam...	ORPHA:69663
Mevalonic Aciduria	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	OMIM:610377
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Diarrhea, Failure to thrive in infancy, Leukocytosis, Skin rash, Chronic diarrhea, Increased prop...	OMIM:617099
Neutral Lipid Storage Myopathy	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	ORPHA:98908
Immunodeficiency 58	Allergic rhinitis, Recurrent pneumonia, Verrucae, Bronchiectasis, Failure to thrive, Cutaneous ab...	OMIM:618131
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin rash, Palmoplan...	ORPHA:324964
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Recurrent pneumonia, Abnormal CD4:CD8 ratio, Diarrhea, Recurrent aphthous stomatitis, Splenomegal...	OMIM:150550
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Splenomegaly	ORPHA:2204
Isolated Anencephaly	Thymus hyperplasia	ORPHA:563609
Mucopolysaccharidosis-Plus Syndrome	Hypoalbuminemia, Nephritis, Recurrent pneumonia, Bone marrow hypocellularity, Leukopenia, Splenom...	OMIM:617303
Congenital Pulmonary Lymphangiectasia	Ascites, Splenomegaly, Hepatomegaly, Chylopericardium, Pulmonic stenosis	ORPHA:2414
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Nausea and vomiting, Wei...	ORPHA:3226
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Pancytopenia, Splenomegaly	OMIM:614979
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Pneumonia, Abnormal T cell count, Diarrhea, Panhypogammaglobulinemia, Recurrent otitis media, Pyo...	OMIM:307200
Babesiosis	Hepatic failure, Leukopenia, Nausea and vomiting, Splenomegaly, Thrombocytopenia, Anorexia, Hepat...	ORPHA:108
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Hepatic steatosis, Elevated circulating alkaline phosphatase concentration, Elevated circulating ...	ORPHA:52430
Granulomatous Disease, Chronic, Autosomal Recessive, 3	Perioral eczema, Diarrhea, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent sinusiti...	OMIM:613960
Combined Immunodeficiency-Enteropathy Spectrum	Peritoneal abscess, Abdominal distention, Hepatitis, Jejunoileal ulceration, Intestinal malrotati...	ORPHA:436252
Bardet-Biedl Syndrome 19	Obesity, Hepatic steatosis	OMIM:615996
Elliptocytosis 1	Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis	OMIM:611804
Osteopetrosis, Autosomal Dominant 3	Anemia, Hyperparathyroidism, Splenomegaly, Hepatomegaly	OMIM:618107
Combined Oxidative Phosphorylation Deficiency 12	Failure to thrive, Cholestasis, Elevated circulating aspartate aminotransferase concentration, El...	OMIM:614924
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Mcleod Syndrome	Elevated gamma-glutamyltransferase level, Increased circulating lactate dehydrogenase concentrati...	OMIM:300842
Kawasaki Disease	Hypoalbuminemia, Strawberry tongue, Diarrhea, Hepatitis, Conjunctivitis, Cervical lymphadenopathy...	ORPHA:2331
Omenn Syndrome	Pneumonia, Failure to thrive, Lymphoma, Abnormal lymphocyte morphology, Leukocytosis, Splenomegal...	ORPHA:39041
Glycogen Storage Disease Xii	Normocytic anemia, Cholelithiasis, Increased circulating lactate dehydrogenase concentration, Hyp...	OMIM:611881
Spherocytosis, Type 1	Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:182900
Familial Mediterranean Fever	Diarrhea, Vomiting, Erysipelas, Leukocytosis, Splenomegaly, Chronic constipation, Crohn's disease...	OMIM:249100
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Meningioma, Hyp...	ORPHA:189427
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Hypermethioninemia, Failure to thrive, Hepatic steatosis, Inguinal hernia, Reduced cystathionine ...	OMIM:236200
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Hepatic failure, Portal fibr...	OMIM:617394
Amyloidosis, Hereditary Systemic 2	Hepatomegaly, Cholestasis, Splenomegaly	OMIM:105200
Gaucher Disease, Type Iiic	Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val...	OMIM:231005
Thymoma	Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Ulcerative colitis, Neopl...	ORPHA:99867
Mccune-Albright Syndrome	Bone marrow hypocellularity, Gastroesophageal reflux, Increased circulating cortisol level, Hepat...	ORPHA:562
Simple Cryoglobulinemia	Nephritis, Monoclonal immunoglobulin M proteinemia, Gastrointestinal hemorrhage, Paraproteinemia,...	ORPHA:91139
Cinca Syndrome	Leukocytosis, Splenomegaly, Nausea and vomiting, Inflammatory abnormality of the eye, Anemia, Ele...	ORPHA:1451
Spherocytosis, Type 2	Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:616649
Lipodystrophy, Congenital Generalized, Type 2	Elevated circulating hepatic transaminase concentration, Umbilical hernia, Hepatic steatosis, Spl...	OMIM:269700
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Gaucher Disease	Pancytopenia, Increased circulating antibody level, Feeding difficulties in infancy, Cirrhosis, P...	ORPHA:355
Beta-Thalassemia Intermedia	Abnormality of iron homeostasis, Cholelithiasis, Decreased liver function, Extramedullary hematop...	ORPHA:231222
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S...	OMIM:612840
Hereditary Chronic Pancreatitis	Abnormal circulating enzyme concentration or activity, Leukocytosis, Pancreatic calcification, Re...	ORPHA:676
Generalized Pseudohypoaldosteronism Type 1	Atopic dermatitis, Cholelithiasis, Vomiting, Recurrent tonsillitis, Failure to thrive in infancy,...	ORPHA:171876
3-Hydroxy-3-Methylglutaric Aciduria	Elevated circulating hepatic transaminase concentration, Diarrhea, Anorexia, Leukopenia, Leukocyt...	ORPHA:20
Lipodystrophy, Congenital Generalized, Type 1	Elevated circulating hepatic transaminase concentration, Umbilical hernia, Hepatic steatosis, Spl...	OMIM:608594
Mucopolysaccharidosis Type 7	Hepatitis, Umbilical hernia, Ascites, Splenomegaly, Inguinal hernia	ORPHA:584
Felty Syndrome	Cellulitis, Bone marrow hypocellularity, Recurrent pneumonia, Lymphoma, Abnormal lymphocyte morph...	ORPHA:47612
Cirrhosis, Familial	Biliary cirrhosis, Micronodular cirrhosis, Ascites, Increased level of propylene glycol in blood,...	OMIM:215600
Multiple Acyl-Coa Dehydrogenase Deficiency	Vomiting, Elevated circulating glutaric acid concentration, Hepatic periportal necrosis, Hepatic ...	OMIM:231680
Dubowitz Syndrome	Decreased circulating IgG level, Gastroesophageal reflux, Aplastic anemia, Eczematoid dermatitis,...	OMIM:223370
Fanconi-Bickel Syndrome	Hepatic failure, Abdominal distention, Failure to thrive, Elevated circulating aspartate aminotra...	ORPHA:2088
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Decreased circulating IgG level, Hemophagocytosis, Agranulocytosis, ...	OMIM:301078
Systemic Mastocytosis With Associated Hematologic Neoplasm	Diarrhea, Chronic lymphatic leukemia, Hematological neoplasm, Acute myeloid leukemia, Weight loss...	ORPHA:98849
Linear Iga Dermatosis	Renal neoplasm, Inflammation of the large intestine, Bladder neoplasm	ORPHA:46488
Immunodeficiency 10	Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati...	OMIM:612783
Osteopetrosis, Autosomal Recessive 8	Failure to thrive, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly, Feeding difficulties	OMIM:615085
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:614096
Myasthenia Gravis	Rheumatoid arthritis, Hepatitis, Myositis, Hashimoto thyroiditis, Dysphagia, Abnormal thymus morp...	ORPHA:589
Liver Disease, Severe Congenital	Diarrhea, Portal inflammation, Recurrent otitis media, Hyperbilirubinemia, Hepatic steatosis, Abn...	OMIM:619991
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Erythema nodosum, Elevated...	OMIM:615688
Dyskeratosis Congenita, Autosomal Recessive 5	Bone marrow hypocellularity, Leukopenia, Colitis, Decreased circulating antibody level, Esophagea...	OMIM:615190
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto...	OMIM:185000
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome...	ORPHA:846
Radiation Proctitis	Hematochezia, Arteritis, Diarrhea, Tenesmus, Abnormality of connective tissue, Abnormal rectum mo...	ORPHA:70475
Postinfectious Vasculitis	Pneumonia, Bacterial endocarditis, Inflammatory abnormality of the skin, Elevated haptoglobin lev...	ORPHA:48435
Adrenomyodystrophy	Abnormal intestine morphology, Hepatic steatosis, Failure to thrive	ORPHA:977
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Failure to thrive in infancy, Osteomyelitis, Splenomegaly, Abscess, Skin rash, Pustule, Elevated ...	OMIM:612852
Combined Oxidative Phosphorylation Deficiency 37	Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transamin...	OMIM:618329
Progeria-Short Stature-Pigmented Nevi Syndrome	Bifid uvula, Elevated circulating hepatic transaminase concentration, Small for gestational age, ...	ORPHA:2959
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro...	OMIM:616005
Gaucher Disease, Type Iii	Pancytopenia, Splenomegaly, Decreased body weight, Decreased beta-glucocerebrosidase level, Throm...	OMIM:231000
Rajab Interstitial Lung Disease With Brain Calcifications 1	Cholestasis, Slender build, Pancytopenia, Hepatic steatosis, Cirrhosis, Unconjugated hyperbilirub...	OMIM:613658
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Inflammatory Bowel Disease 25, Autosomal Recessive	Folliculitis, Pancolitis, Perianal abscess, Enterocutaneous fistula, Enterocolitis, Rectovaginal ...	OMIM:612567
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:158029
Pyoderma Gangrenosum	Inflammation of the large intestine, Rheumatoid arthritis, Atrophic scars, Increased circulating ...	ORPHA:48104
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Majeed Syndrome	Inflammatory abnormality of the skin, Failure to thrive, Osteomyelitis, Malabsorption, Leukocytos...	ORPHA:77297
Combined Oxidative Phosphorylation Deficiency 41	Anemia, Cardiomegaly	OMIM:618838
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Elevated circulating hepatic transaminase concentration, Esophagitis, Hepatic steatosis, Elevated...	OMIM:615356
3-Methylglutaconic Aciduria, Type V	Failure to thrive, Normochromic microcytic anemia, Elevated circulating aspartate aminotransferas...	OMIM:610198
Joubert Syndrome 33	Splenomegaly	OMIM:617767
Sézary Syndrome	Neoplasm of the skin, Lymphoma, Abnormal lymphocyte morphology, Splenomegaly, Abnormal immunoglob...	ORPHA:3162
Immunodeficiency 54	Reduced natural killer cell count, Failure to thrive, Splenomegaly, Lymphadenopathy, Hepatomegaly...	OMIM:609981
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Cholestasis, Abnormal dental enamel morphology, Portal hypertension, Splenomegaly, Scarring alope...	ORPHA:59303
Alstrom Syndrome	Nephritis, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Decrease...	OMIM:203800
Psoriasis 14, Pustular	Furrowed tongue, Psoriasiform dermatitis, Leukocytosis, Pustule, Oligoarthritis, Geographic tongu...	OMIM:614204
Fructose Intolerance, Hereditary	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Vomiting, F...	OMIM:229600
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Adams-Oliver Syndrome 6	Hepatic fibrosis, Portal hypertension, Splenomegaly, Truncus arteriosus, Ventricular septal defect	OMIM:616589
Rift Valley Fever	Elevated circulating hepatic transaminase concentration, Hepatitis, Increased circulating IgG lev...	ORPHA:319251
Attrv30M Amyloidosis	Cardiomegaly, Cardiomyopathy	ORPHA:85447
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatic necrosis, Fulminant hepatic failure, Hepatic steatosis, Feeding difficulties in infancy, ...	OMIM:231530
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No...	OMIM:613470
Myopathy With Extrapyramidal Signs	Elevated circulating hepatic transaminase concentration, Extremely elevated creatine kinase, Leuk...	OMIM:615673
Gamma-Heavy Chain Disease	Rheumatoid arthritis, Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, ...	ORPHA:100026
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration...	ORPHA:822
Fumarase Deficiency	Intrahepatic cholestasis, Hepatic failure, Cutaneous leiomyoma, Failure to thrive, Polycythemia, ...	OMIM:606812
Infection-Related Hemolytic Uremic Syndrome	Diarrhea, Abdominal pain, Hyperkalemia, Intestinal perforation, Abnormal circulating chemokine co...	ORPHA:544482
Leptospirosis	Uveitis, Diarrhea, Hepatitis, Nausea and vomiting, Skin rash, Elevated serum transaminases during...	ORPHA:509
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Diarrhea, Increased circulating IgE level, Lymphopenia, Apl...	OMIM:102700
Pearson Syndrome	Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Hepatomegaly, Hypoplastic spleen,...	ORPHA:699
Generalized Pustular Psoriasis	Hypoalbuminemia, Cheilitis, Elevated circulating hepatic transaminase concentration, Lymphopenia,...	ORPHA:247353
Seckel Syndrome 10	Elevated circulating aspartate aminotransferase concentration, Hepatic steatosis, Elevated circul...	OMIM:617253
Neurooculocardiogenitourinary Syndrome	Bilateral cryptorchidism, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial s...	OMIM:618652
Glycogen Storage Disease Ic	Inflammation of the large intestine, Cyclic neutropenia, Xanthelasma, Chronic pancreatitis, Hyper...	OMIM:232240
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Cholelithiasis, Diarrhea, Chronic mucocutaneous candidiasis, Malabsorption, K...	OMIM:240300
Attrv122I Amyloidosis	Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef...	ORPHA:85451
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect	OMIM:619170
Inflammatory Bowel Disease 11	Hematochezia, Inflammation of the large intestine, Diarrhea, Weight loss, Abdominal pain	OMIM:191390
Congenitally Uncorrected Transposition Of The Great Arteries	Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo...	ORPHA:860
Prolidase Deficiency	Recurrent pneumonia, Failure to thrive, Eczematoid dermatitis, Elevated circulating aspartate ami...	OMIM:170100
Pseudo-Torch Syndrome 3	Lymphadenitis, Leukocytosis, Cardiomegaly, Congenital thrombocytopenia, Anemia	OMIM:618886
Cold Agglutinin Disease	Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy	ORPHA:56425
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di...	OMIM:254450
D-Bifunctional Protein Deficiency	Fetal ascites, Elevated circulating hepatic transaminase concentration, Increased circulating ver...	OMIM:261515
Chanarin-Dorfman Syndrome	Hepatomegaly, Hepatic steatosis	OMIM:275630
19P13.12 Microdeletion Syndrome	Obesity, Hyperlipidemia, Hepatic steatosis, Arthrogryposis multiplex congenita, Cleft palate	ORPHA:254346
Tyrosinemia, Type I	Hypermethioninemia, Elevated circulating alpha-fetoprotein concentration, Hepatic failure, Elevat...	OMIM:276700
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Anemia, Hepatomegaly, Splenomegaly	OMIM:620296
Adams-Oliver Syndrome 5	Hypersplenism, Splenomegaly, Patent foramen ovale, Portal vein thrombosis, Right atrial enlargeme...	OMIM:616028
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red...	OMIM:133100
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated circulating hepatic transaminase concentration, Diarrhea, Vomiting, Large for gestationa...	ORPHA:263455
Farber Lipogranulomatosis	Failure to thrive, Splenomegaly, Lipogranulomatosis, Decreased acid ceramidase activity, Arthriti...	OMIM:228000
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Failure to thrive, Splenomegaly, Macrocytic anemia, Hyperprolinemia, Feeding difficulties in infa...	OMIM:619046
Smith-Lemli-Opitz Syndrome	Recurrent otitis media, Facial capillary hemangioma, Hepatic steatosis, Cirrhosis, Abdominal dist...	OMIM:270400
Ppoma	Diarrhea, Increased circulating cortisol level, Nausea and vomiting, Intestinal obstruction, Weig...	ORPHA:97278
Brucellosis	Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Weight loss, Glomerulonephri...	ORPHA:1304
Spondyloenchondrodysplasia	Pneumonia, Granuloma, Hepatitis, Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Enchondrom...	ORPHA:1855
Bloom Syndrome	Decreased circulating IgG level, Bronchiectasis, Lymphoma, Decreased circulating IgA level, Malar...	OMIM:210900
Proteasome-Associated Autoinflammatory Syndrome 4	Generalized lipodystrophy, Splenomegaly, Autoimmune hemolytic anemia, Myositis, Lymphadenopathy, ...	OMIM:619183
Neonatal Lupus Erythematosus	Hepatic failure, Elevated circulating hepatic transaminase concentration, Aplastic anemia, Abnorm...	ORPHA:398124
Somatostatinoma	Diarrhea, Increased circulating cortisol level, Nausea and vomiting, Intestinal obstruction, Weig...	ORPHA:97283
Common Variable Immunodeficiency	Pneumonia, Elevated circulating hepatic transaminase concentration, Bronchiectasis, Lymphoma, Fai...	ORPHA:1572
Primary Sjögren Syndrome	Arteritis, Xerostomia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Lymphocy...	ORPHA:289390
Combined Oxidative Phosphorylation Deficiency 27	Feeding difficulties, Hyperammonemia, Failure to thrive, Microvesicular hepatic steatosis	OMIM:616672
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Cardiomegaly	OMIM:619064
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal blood inorganic cation concentration, Elevated circulating hepatic transaminase concentr...	ORPHA:309854
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Hepatosplenomegaly, Iron deficiency anemia, Cardiomegaly	ORPHA:99931
Typhoid	Gastrointestinal hemorrhage, Diarrhea, Skin rash, Splenomegaly, Infectious encephalitis, Constipa...	ORPHA:99745
American Trypanosomiasis	Diarrhea, Skin rash, Splenomegaly, Infectious encephalitis, Aganglionic megacolon, Achalasia, Lym...	ORPHA:3386
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Recurrent pneumonia, Increased circulating interleukin 8 concentration, Failure to thrive in infa...	OMIM:301220
Grfoma	Diarrhea, Increased circulating cortisol level, Nausea and vomiting, Intestinal obstruction, Weig...	ORPHA:97261
Symptomatic Form Of Hfe-Related Hemochromatosis	Increased circulating ferritin concentration, Portal hypertension, Splenomegaly, Cardiomegaly, Ch...	ORPHA:465508
Transaldolase Deficiency	Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Failure to thrive, Hepatosple...	OMIM:606003
Congenital Tricuspid Valve Dysplasia	Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ...	ORPHA:555874
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Cellulitis, Uveitis, Diarrhea, Vomiting, Erysipelas, Fasciitis, Leukocytosis, Splenomegaly, Skin ...	ORPHA:32960
Nodular Non-Suppurative Panniculitis	Nausea and vomiting, Splenomegaly, Inflammatory abnormality of the eye, Weight loss, Hepatomegaly...	ORPHA:33577
Muckle-Wells Syndrome	Camptodactyly of finger, Recurrent aphthous stomatitis, Episcleritis, Splenomegaly, Skin rash, He...	ORPHA:575
Dyskeratosis Congenita, Autosomal Recessive 8	Bone marrow hypocellularity, Reduced natural killer cell count, Inflammation of the large intesti...	OMIM:620133
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Leukocytosis, Splenomegaly	OMIM:618042
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Ascites...	OMIM:115197
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2	Enterocolitis	OMIM:620425
Congenital Rubella Syndrome	Splenomegaly, Ventricular septal defect, Hepatomegaly, Atrial septal defect, Thrombocytopenia, An...	ORPHA:290
Chronic Mucocutaneous Candidiasis	Hepatitis, Abnormal dental enamel morphology, Skin rash, Feeding difficulties in infancy, Cheilitis	ORPHA:1334
Mulibrey Nanism	Ascites, Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial fibrosis	OMIM:253250
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated circulating hepatic transaminase concentration, Abnormality of exocrine pancreas physiol...	ORPHA:93111
Lysinuric Protein Intolerance	Diarrhea, Intraalveolar phospholipid accumulation, Failure to thrive, Hemophagocytosis, Increased...	OMIM:222700
Fetal Gaucher Disease	Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia, High palate, Hepatomegal...	ORPHA:85212
Lujo Hemorrhagic Fever	Abdominal cramps, Elevated circulating hepatic transaminase concentration, Increased circulating ...	ORPHA:319213
Hyper-Igd Syndrome	Diarrhea, Lymphadenitis, Vomiting, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Skin rash, Ren...	OMIM:260920
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Cellulitis, Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteom...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Cellulitis, Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteom...	OMIM:233710
Congenital Disorder Of Glycosylation, Type Iiw	Elevated gamma-glutamyltransferase level, Microcytic anemia, Recurrent otitis media, Ankyloglossi...	OMIM:619525
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Hepatic failure, Increased mean corpuscular volume, Po...	OMIM:620367
Reynolds Syndrome	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Biliary cir...	OMIM:613471
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Vomiting, Failure to thrive, Decreased liver function, Anemia, Hepatomegaly, Diffuse hepatic stea...	ORPHA:436271
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:611490
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia	Allergic rhinitis, Eosinophilic microabscess formation in the esophagus, Esophagitis, Eosinophili...	ORPHA:411696
3-Methylglutaconic Aciduria Type 7	Bone marrow hypocellularity, Infection associated neutropenia, Elevated circulating hepatic trans...	ORPHA:445038
Sickle Cell Anemia	Splenic infarction, Cholelithiasis, Pigment gallstones, Hypochromic anemia, Increased mean corpus...	ORPHA:232
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Feeding difficulties, Hepatic steatosis, Decreased liver function	OMIM:614922
Monosomy 13Q34	Hematochezia, Obesity, Hypercalcemia, Hepatic steatosis	ORPHA:96168
Pancreatic Triacylglycerol Lipase Deficiency	Diarrhea, Exocrine pancreatic insufficiency, Abdominal pain, Keratoconjunctivitis sicca, Weight l...	ORPHA:309031
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Pneumonia, Failure to thrive, Lymphoma, Pure red cell aplasia, Lymphopenia, Lymph n...	OMIM:613179
Combined Oxidative Phosphorylation Deficiency 10	Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial effusion, Ascites	OMIM:614702
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Protein-losing enteropathy, Hepatic failure, Pancreatic lymphangiectasis, Ascites, Splenomegaly, ...	OMIM:235255
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Left atrial e...	OMIM:300280
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hepatic failure, Elevated circulating hepatic transaminase concentration, Thrombocytopenia, Micro...	OMIM:611126
Beta-Thalassemia Major	Hepatic fibrosis, Abnormality of iron homeostasis, Diarrhea, Reduced hemoglobin A, Extramedullary...	ORPHA:231214
Zollinger-Ellison Syndrome	Diarrhea, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Pituitary null ...	ORPHA:913
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Cellulitis, Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteom...	OMIM:233690
Whipple Disease	Uveitis, Diarrhea, Gastrointestinal hemorrhage, Anorexia, Malabsorption, Splenomegaly, Infectious...	ORPHA:3452
Glucagonoma	Diarrhea, Increased circulating cortisol level, Acanthocytosis, Nausea and vomiting, Intestinal o...	ORPHA:97280
Biotinidase Deficiency	Diarrhea, Vomiting, Hyperammonemia, Skin rash, Splenomegaly, Feeding difficulties in infancy, Seb...	OMIM:253260
Chronic Granulomatous Disease	Pyloric stenosis, Eczematoid dermatitis, Malabsorption, Splenomegaly, Otitis media, Inflammatory ...	ORPHA:379
Fixed Subaortic Stenosis	Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep...	ORPHA:3092
Primary Triglyceride Deposit Cardiomyovasculopathy	Inflammatory abnormality of the skin, Abnormal circulating enzyme concentration or activity, Hype...	ORPHA:565612
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Vomiting, Diarrhea, Failure to thrive, Hyperaldosteronism, Hyponatremia, Hyperkalemia, Feeding di...	OMIM:177735
3-Methylglutaconic Aciduria, Type Viib	Recurrent pneumonia, Leukopenia, Hepatic steatosis, Tube feeding, Thrombocytopenia, Neutropenia, ...	OMIM:616271
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatic fibrosis, Failure to thrive, Exocrine pancreatic insufficiency, Hepatic steatosis, Pancre...	OMIM:616263
Early-Onset Familial Hypoaldosteronism	Vomiting, Failure to thrive, Hyponatremia, Elevated serum 11-deoxycortisol, Abnormal circulating ...	ORPHA:556030
Acute Liver Failure	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Diarrhea, H...	ORPHA:90062
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Hypochromic anemia, Anoperineal fistula, Failure to thrive, Increased circulating IgE level, Leuk...	OMIM:618213
Wiskott-Aldrich Syndrome	Inflammation of the large intestine, Diarrhea, Decreased proportion of CD8-positive T cells, Lymp...	OMIM:301000
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio...	ORPHA:404454
Late-Onset Familial Hypoaldosteronism	Vomiting, Failure to thrive, Hyponatremia, Elevated serum 11-deoxycortisol, Abnormal circulating ...	ORPHA:556037
Mitochondrial Trifunctional Protein Deficiency	Poor suck, Cholestasis, Failure to thrive in infancy, Hypocalcemia, Chronic hepatic failure, Left...	ORPHA:746
Heterotaxy, Visceral, 1, X-Linked	Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy...	OMIM:306955
Sapho Syndrome	Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Malabsorption, Skin ...	ORPHA:793
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating interleukin 8 concentration, Microcytic anemia, Recurrent otitis media, Chr...	OMIM:256040
Hereditary Elliptocytosis	Cholelithiasis, Neonatal hyperbilirubinemia, Stomatocytosis, Hyperbilirubinemia, Elliptocytosis, ...	ORPHA:288
Osteopetrosis, Autosomal Recessive 1	Increased circulating lactate dehydrogenase concentration, Failure to thrive, Osteomyelitis, Panc...	OMIM:259700
Kaufman Oculocerebrofacial Syndrome	Failure to thrive, Intestinal malrotation, Hypocholesterolemia, Feeding difficulties in infancy, ...	OMIM:244450
Cimdag Syndrome	Cholelithiasis, Microvesicular hepatic steatosis, Lipodystrophy, Hepatomegaly, Feeding difficulties	OMIM:619273
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Diarrhea, Failure to thrive, Splenomegaly, Low alkaline phosphatase, Decreased serum zinc, Hepato...	OMIM:201100
Immunodeficiency 31C	Protein-losing enteropathy, Diarrhea, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, I...	OMIM:614162
Mucopolysaccharidosis, Type Iiia	Diarrhea, Reduced leukocyte N-sulfoglucosamine sulfohydrolase activity, Umbilical hernia, Inguina...	OMIM:252900
Hypocomplementemic Urticarial Vasculitis	Diarrhea, Lymphoma, Ascites, Episcleritis, Splenomegaly, Skin rash, Nausea and vomiting, Inflamma...	ORPHA:36412
Renal-Hepatic-Pancreatic Dysplasia 1	Aortic valve stenosis, Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrho...	OMIM:208540
Multiple Endocrine Neoplasia, Type I	Thyroid adenoma, Diarrhea, Pituitary adenoma, Adrenocortical adenoma, Pituitary prolactin cell ad...	OMIM:131100
Proteus-Like Syndrome	Splenomegaly, Thymus hyperplasia, Abnormality of the parathyroid gland, Polycystic ovaries	ORPHA:2969
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Protein-losing enteropathy, Hepatic failure, Pancreatic lymphangiectasis, Ascites, Hepatosplenome...	ORPHA:1655
Aredyld Syndrome	Abnormal dental enamel morphology, Splenomegaly, Cachexia, Hepatomegaly, Lipoatrophy, Refractory ...	ORPHA:1133
Polycythemia Vera	Early satiety, Acute leukemia, Gastrointestinal hemorrhage, Polycythemia, Portal hypertension, Sp...	ORPHA:729
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Hyperbilirubinemia, Cleft so...	OMIM:301068
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho...	OMIM:607626
Corticosterone Methyloxidase Type Ii Deficiency	Increased circulating 18-hydroxycortisone level, Failure to thrive, Hyponatremia, Increased circu...	OMIM:610600
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90037
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly	OMIM:619051
Trichohepatoenteric Syndrome 1	Cholestasis, Cirrhosis, Hepatomegaly, Jaundice, Villous atrophy, Small for gestational age, Abnor...	OMIM:222470
Combined Immunodeficiency Due To Crac Channel Dysfunction	Pneumonia, Neoplasm, Splenomegaly, Amelogenesis imperfecta, Lymphadenopathy, Thrombocytopenia, Hy...	ORPHA:169090
Occipital Horn Syndrome	High, narrow palate, Atypical scarring of skin, Keloids, Gastroesophageal reflux, Hepatitis, Chol...	ORPHA:198
Acute Disseminated Encephalomyelitis	Myelitis, Vomiting, Herpes simplex encephalitis, Optic neuritis, Nausea, Viral hepatitis	ORPHA:83597
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Elevated circulating hepatic transaminase concentration, Gastroesophageal reflux, Failure to thri...	ORPHA:17
Pseudo-Torch Syndrome 1	Elevated circulating hepatic transaminase concentration, Failure to thrive, Decreased liver funct...	OMIM:251290
Macrocephaly/Autism Syndrome	Recurrent otitis media, Lymphopenia, Obesity, Large for gestational age, Splenomegaly, Hepatomega...	OMIM:605309
Gaucher Disease, Type I	Aortic valve stenosis, Pancytopenia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia,...	OMIM:230800
Oculoskeletodental Syndrome	Protein-losing enteropathy, Elbow flexion contracture, Splenomegaly, Hypocalcemia, Hepatomegaly, ...	OMIM:618440
Acute Panmyelosis With Myelofibrosis	Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye...	ORPHA:86843
Refractory Anemia With Excess Blasts	Abnormal mean corpuscular volume, Bone marrow hypocellularity, Leukocytosis, Anemia of inadequate...	ORPHA:86839
Glycogen Storage Disease Ii	Reduced muscle alpha-1,4-glucosidase activity, Increased circulating lactate dehydrogenase concen...	OMIM:232300
Urachal Cyst	Neoplasm, Leukocytosis, Abscess, Peritonitis, Elevated circulating C-reactive protein concentrati...	ORPHA:488
Niemann-Pick Disease, Type C1	Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Fatal liver failure in infancy, Prolonged ne...	OMIM:257220
Dilated Cardiomyopathy With Ataxia	Elevated circulating hepatic transaminase concentration, Elevated circulating glutaric acid conce...	ORPHA:66634
Poikiloderma With Neutropenia	Recurrent pneumonia, Increased circulating lactate dehydrogenase concentration, Recurrent otitis ...	OMIM:604173
Gaisböck Syndrome	Increased red blood cell count, Peptic ulcer, Increased mean corpuscular hemoglobin concentration...	ORPHA:90041
Hyperparathyroidism, Neonatal Severe	Failure to thrive, Splenomegaly, Anemia, Hypophosphatemia, Constipation, Feeding difficulties in ...	OMIM:239200
Plague	Inflammation of the large intestine, Diarrhea, Lymphadenitis, Ileitis, Acute infectious pneumonia...	ORPHA:707
Histiocytosis-Lymphadenopathy Plus Syndrome	Pancreatic hypoplasia, Decreased response to growth hormone stimulation test, Cervical lymphadeno...	OMIM:602782
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans...	OMIM:124000
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Mitral valve prolapse, Cardiomegaly, Abnormal atrioventricular valve morph...	ORPHA:324410
Kikuchi-Fujimoto Disease	Abnormal lymph node morphology, Pustule, Weight loss, Neutropenia, Anorexia, Elevated circulating...	ORPHA:50918
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Bone marrow hypocellularity, Enterocolitis, Failure to thrive	OMIM:301108
Iga Pemphigus	Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Eosinophilia, Increased circul...	ORPHA:555905
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Gastroesophageal reflux, Xerostomia, Mediastinal lymphadenopathy, Le...	ORPHA:809
Kindler Epidermolysis Bullosa	Cheilitis, Atypical scarring of skin, Inflammation of the large intestine, Periodontitis, Camptod...	ORPHA:2908
Granulomatous Disease, Chronic, X-Linked	Cellulitis, Discoid lupus rash, Recurrent pneumonia, Granuloma, Lymphadenitis, Eczematoid dermati...	OMIM:306400
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Vomiting, Hyperaldosteronism, Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620126
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Intestinal malrotation, Cleft soft palate, Leukocytosis, Hepatic steatosis, Abdominal obesity, Fl...	OMIM:619321
Congenital Factor Xiii Deficiency	Hepatic failure, Inflammation of the large intestine, Myeloid leukemia	ORPHA:331
Necrotizing Enterocolitis	Diarrhea, Vomiting, Abdominal distention, Bloody diarrhea, Ascites, Hypoactive bowel sounds, Leuk...	ORPHA:391673
Wiskott-Aldrich Syndrome	Acute leukemia, Abnormal eosinophil morphology, Inflammation of the large intestine, Microcytic a...	ORPHA:906
Chédiak-Higashi Syndrome	Periodontitis, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Jaundice, Hypopro...	ORPHA:167
Relapsing Polychondritis	Uveitis, Keratitis, Hepatitis, Anteriorly placed anus, Recurrent aphthous stomatitis, Chondritis,...	ORPHA:728
Coronary Arterial Fistula	Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C...	ORPHA:2041
Congenital Disorder Of Glycosylation, Type Iie	Gastroesophageal reflux, Failure to thrive, Decreased liver function, Elevated circulating aspart...	OMIM:608779
Aorta Coarctation	Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ...	ORPHA:1457
Autosomal Recessive Polycystic Kidney Disease	Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Hypersplenism, Congeni...	ORPHA:731
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Pancytopenia, Splenomegaly, Increased circulating antibody l...	OMIM:181000
Lethal Congenital Contracture Syndrome 10	Cardiomegaly, Hypoplasia of the thymus, Overriding aorta, Ventricular septal defect	OMIM:617022
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Failure to thrive, Decreased liver function, Anemia, Increased intramyocellular lipid droplets, H...	OMIM:220110
Timothy Syndrome	Tetralogy of Fallot, Cardiomegaly, Patent foramen ovale, Ventricular septal defect	OMIM:601005
Multiple Endocrine Neoplasia Type 4	Diarrhea, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Pituitary null ...	ORPHA:276152
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly	ORPHA:3137
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Elevated gamma-glutamyltransferase level, Stomatocytosis, Hemolytic anemia, Splenomegaly, Hepatom...	OMIM:608885
Aromatase Deficiency	Obesity, Eunuchoid habitus, Hyperlipidemia, Hepatic steatosis, Enlarged polycystic ovaries	ORPHA:91
Cirrhotic Cardiomyopathy	Ascites, Cardiomegaly, Left atrial enlargement, Left ventricular hypertrophy, Cirrhosis, Jaundice...	ORPHA:57777
Cantu Syndrome	Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion	OMIM:239850
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig...	ORPHA:439
Sarcoidosis, Susceptibility To, 2	Splenomegaly, Erythema nodosum, Hepatomegaly, Mediastinal lymphadenopathy, Bronchiectasis, Uveitis	OMIM:612387
Long-Olsen-Distelmaier Syndrome	Cardiomegaly, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect	OMIM:620609
Chronic Visceral Acid Sphingomyelinase Deficiency	Cholelithiasis, Hepatic failure, Decreased liver function, Abnormal circulating lipid concentrati...	ORPHA:77293
Hypocalcemic Vitamin D-Dependent Rickets	Hypochromic anemia, Failure to thrive, Leukocytosis, Splenomegaly, Hypocalcemia, Elevated circula...	ORPHA:289157
Combined Oxidative Phosphorylation Deficiency 14	Increased hepatic glycogen content, Copper accumulation in liver, Thrombocytopenia, Elevated hepa...	OMIM:614946
Sandhoff Disease	Hepatomegaly, Hepatosplenomegaly, Cardiomegaly	OMIM:268800
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Gastroesophageal reflux, Vomiting, Failure to thrive, Hilar lymph node enlargement, Cholestasis, ...	OMIM:620233
Multiple Myeloma	Elevated circulating creatinine concentration, Functional abnormality of the gastrointestinal tra...	ORPHA:29073
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Hepatic failure, Elevated circulating hepatic transaminase concentration, Vomiting, Micronodular ...	OMIM:203700
Poems Syndrome	Visceromegaly, Polycythemia, Ascites, Splenomegaly, Increased circulating antibody level, Hemangi...	ORPHA:2905
Double Outlet Left Ventricle	Cryptorchidism, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary valv...	ORPHA:3427
Kaposiform Lymphangiomatosis	Hepatosplenomegaly, Splenomegaly, Lymphangioma, Abnormality of the lymphatic system, Abnormal lym...	ORPHA:464329
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Failure to thrive, Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Inguinal hernia, Ot...	OMIM:612541
Acute Generalized Exanthematous Pustulosis	Elevated circulating hepatic transaminase concentration, Cholestasis, Predominantly dermal neutro...	ORPHA:293173
Chediak-Higashi Syndrome	Periodontitis, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Anemia, Abn...	OMIM:214500
Autoimmune Hemolytic Anemia, Warm Type	Chronic lymphatic leukemia, Jaundice, Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90033
Cocaine Intoxication	Vomiting, Increased circulating lactate dehydrogenase concentration, Gastrointestinal infarctions...	ORPHA:90068
Mogs-Cdg	Hepatosplenomegaly, Cardiomegaly, Left ventricular hypertrophy, Atrial septal defect, Thrombocyto...	ORPHA:79330
Osteopetrosis, Autosomal Recessive 5	Hepatic failure, Extramedullary hematopoiesis, Ascites, Hepatosplenomegaly, Hyperbilirubinemia, P...	OMIM:259720
Gaucher Disease, Perinatal Lethal	Ascites, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:608013
Niemann-Pick Disease, Type C2	Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Low cholesterol esterification...	OMIM:607625
Garg-Mishra Progeroid Syndrome	Increased circulating lactate dehydrogenase concentration, Microvesicular hepatic steatosis	OMIM:620601
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Hepatic cysts, Splenomegaly, Hemateme...	OMIM:263200
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Cardiomyopathy	OMIM:617713
Waldenström Macroglobulinemia	Normocytic anemia, Monoclonal immunoglobulin M proteinemia, Diarrhea, Gastrointestinal hemorrhage...	ORPHA:33226
Porphyria, Congenital Erythropoietic	Cholelithiasis, Joint contracture of the hand, Atypical scarring of skin, Conjunctivitis, Elevate...	OMIM:263700
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated circulating hepatic transaminase concentration, Generalized lipodystrophy, High palate, ...	OMIM:619127
Gaucher Disease, Type Ii	Gastroesophageal reflux, Failure to thrive, Splenomegaly, Anemia, Thrombocytopenia, Protuberant a...	OMIM:230900
Hermansky-Pudlak Syndrome 2	Reduced natural killer cell count, Recurrent pneumonia, Periodontitis, Enlarged platelet dense gr...	OMIM:608233
Refsum Disease, Classic	Cardiomegaly, Cardiomyopathy	OMIM:266500
Gray Platelet Syndrome	Splenomegaly, Abnormal number of alpha granules, Thrombocytopenia	OMIM:139090
Familial Mediterranean Fever	Diarrhea, Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Ery...	ORPHA:342
Digeorge Syndrome	Recurrent otitis media, Hepatic steatosis, High palate, High, narrow palate, Cholelithiasis, Gast...	OMIM:188400
Congenital Erythropoietic Porphyria	Neoplasm of the skin, Reduced haptoglobin level, Increased connective tissue, Keratoconjunctiviti...	ORPHA:79277
Chronic Thromboembolic Pulmonary Hypertension	Inflammation of the large intestine, Increased HDL cholesterol concentration, Osteomyelitis, Obes...	ORPHA:70591
Neuroleptic Malignant Syndrome	Elevated circulating hepatic transaminase concentration, Hyperphosphatemia, Increased circulating...	ORPHA:94093
Yellow Fever	Diarrhea, Vomiting, Pancreatic hyperplasia, Elevated circulating aspartate aminotransferase conce...	ORPHA:99829
Crimean-Congo Hemorrhagic Fever	Diarrhea, Morbilliform rash, Pancytopenia, Nausea and vomiting, Erythema nodosum, Neutrophilia, H...	ORPHA:99827
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypertrophic cardiomyopathy, Cardiomegaly, Ascites, Ventricular septal defect	OMIM:616897
Hermansky-Pudlak Syndrome 1	Colitis, Inflammation of the large intestine, Hematochezia, Abdominal pain	OMIM:203300
Alopecia Totalis	Inflammation of the large intestine	ORPHA:700
Osteopetrosis, Autosomal Recessive 7	Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level, Splenomega...	OMIM:612301
Leukocyte Adhesion Deficiency, Type I	Periodontitis, Chronic mucocutaneous candidiasis, Osteomyelitis, Leukocytosis, Rectal abscess, El...	OMIM:116920
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:391428
Pachydermoperiostosis	Neoplasm of the skin, Gastrointestinal hemorrhage, Peptic ulcer, Eczematoid dermatitis, Osteomyel...	ORPHA:2796
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Inflammation of the large intestine, Lymphopenia, Knee flexion contracture, Absent uvula, Intesti...	OMIM:619708
Arterial Calcification, Generalized, Of Infancy, 2	Cardiomegaly, Right atrial enlargement	OMIM:614473
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Elbow flexion contracture, Large for gestational age, Hip contracture, Microvesicular hepatic ste...	OMIM:300868
Intellectual Developmental Disorder, Autosomal Dominant 68	Gastroesophageal reflux, Joint contracture of the 5th finger, Hepatic steatosis, Constipation, Hi...	OMIM:619934
Fucosidosis	Hepatomegaly, Abnormality of the gallbladder, Cardiomegaly	ORPHA:349
Triosephosphate Isomerase Deficiency	Normocytic anemia, Cholelithiasis, Failure to thrive, Cholecystitis, Splenomegaly, Macrocytic ane...	OMIM:615512
Arima Syndrome	Hepatic fibrosis, Hepatic steatosis, Anemia, Cirrhosis, Hepatomegaly, Esophageal varix	OMIM:243910
Atypical Werner Syndrome	Neoplasm of the skin, Chondrocalcinosis, Failure to thrive, Neoplasm of the oral cavity, Meningio...	ORPHA:79474
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Increased mean platelet volume	OMIM:153670
Truncus Arteriosus	Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morphology, Ventricular sept...	ORPHA:3384
Beck-Fahrner Syndrome	Cardiomegaly, Ventricular septal defect	OMIM:618798
Complete Atrioventricular Septal Defect	Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph...	ORPHA:1329
Bardet-Biedl Syndrome	Hepatic fibrosis, Inflammation of the large intestine, Elevated circulating hepatic transaminase ...	ORPHA:110
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia	OMIM:619036
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Cardiomyopathy, Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic ane...	OMIM:616084
Ectodermal Dysplasia And Immunodeficiency 2	Failure to thrive, Recurrent infection of the gastrointestinal tract, Splenomegaly, Defective pro...	OMIM:612132
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly	OMIM:613320
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Ankyloglossia, Hyperbilirubinemia, Hepatic steatosis, Decreased body weight, Abdominal pain, Jaun...	OMIM:619475
Gaucher Disease Type 3	Aortic valve calcification, Abnormal heart valve morphology, Pancytopenia, Splenomegaly, Hepatome...	ORPHA:77261
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Abnormal heart valve morphology, Ventricular septal defect, Cardiomegaly, ...	ORPHA:363705
Ogden Syndrome	Diarrhea, Recurrent otitis media, Hyperbilirubinemia, Jaundice, Minimal subcutaneous fat, Tube fe...	OMIM:300855
Turner Syndrome Due To Structural X Chromosome Anomalies	Cholestatic liver disease, Hepatic fibrosis, Atypical scarring of skin, Elevated circulating hepa...	ORPHA:99413
Mosaic Monosomy X	Cholestatic liver disease, Hepatic fibrosis, Atypical scarring of skin, Elevated circulating hepa...	ORPHA:99228
Monosomy X	Cholestatic liver disease, Hepatic fibrosis, Atypical scarring of skin, Elevated circulating hepa...	ORPHA:99226
Turner Syndrome	Cholestatic liver disease, Hepatic fibrosis, Atypical scarring of skin, Elevated circulating hepa...	ORPHA:881
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Danon Disease	Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Myocardia...	OMIM:300257
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, Cardiomyopathy, Increased hepatic glycogen content	OMIM:619259
Spondyloarthropathy, Susceptibility To, 1	Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthritis, Psoriasiform derma...	OMIM:106300
Reactive Arthritis	Inflammation of the large intestine, Diarrhea, Osteomyelitis, Recurrent aphthous stomatitis, Pust...	ORPHA:29207
Beckwith-Wiedemann Syndrome	Congenital diaphragmatic hernia, Hepatoblastoma, Feeding difficulties in infancy, Hepatomegaly, V...	ORPHA:116
1P36 Deletion Syndrome	Gastroesophageal reflux, Annular pancreas, Failure to thrive, Camptodactyly of finger, Abnormalit...	ORPHA:1606
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Cholestasis, Recurrent otitis media, Hepatosplenomegaly, Cleft soft palate, Hepatic steatosis, Hi...	OMIM:619503
Familial Tumoral Calcinosis	Hepatomegaly, Neoplasm of the skin, Skin rash, Splenomegaly	ORPHA:53715
Fucosidosis	Hepatomegaly, Vacuolated lymphocytes, Cardiomegaly, Splenomegaly	OMIM:230000
Naxos Disease	Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly...	OMIM:601214
Alström Syndrome	Elevated gamma-glutamyltransferase level, Hepatosplenomegaly, Hepatic steatosis, Cirrhosis, Glome...	ORPHA:64
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Microcolon, Ileus, Splenomegaly, Aganglionic megacolon, Constipation, Hepatomegaly, Abdominal pai...	ORPHA:163746
Hereditary Orotic Aciduria	Anemia, Splenomegaly	ORPHA:30
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Ascites, Cardiomegaly, Pe...	OMIM:261740
Amyloidosis, Hereditary Systemic 1	Cardiomegaly, Cardiomyopathy	OMIM:105210
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy	ORPHA:308552
Mucopolysaccharidosis Type 3	Recurrent tonsillitis, Adenoiditis, Splenomegaly, Abnormal mitral valve morphology, Abnormal aort...	ORPHA:581
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Vomiting, Failure to thrive, Anteriorly placed anus, Hyperammonemia, Inguinal hernia, Microvesicu...	OMIM:220111
Cantú Syndrome	Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology	ORPHA:1517
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Cardiomegaly, Cryptorchidism	OMIM:618143
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ...	OMIM:620066
Familial Idiopathic Dilatation Of The Right Atrium	Abnormality of the hepatic vasculature, Cardiomegaly, Hepatomegaly, Right atrial enlargement, Atr...	ORPHA:1677
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly, Abnormal thymus morphology	ORPHA:2463
Interatrial Communication	Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s...	ORPHA:1478
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Cardiomyopathy	ORPHA:158687
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aortic valve, Left ventricula...	OMIM:245600
Hepatoerythropoietic Porphyria	Seborrhoeic blepharitis, Erythroid hyperplasia, Abnormal circulating enzyme concentration or acti...	ORPHA:95159
Arterial Calcification, Generalized, Of Infancy, 1	Cardiomegaly, Dilated cardiomyopathy	OMIM:208000
Frontometaphyseal Dysplasia 2	Bifid uvula, Keloids, Gastroesophageal reflux, Elbow contracture, Hip contracture, Feeding diffic...	OMIM:617137
Wiedemann-Rautenstrauch Syndrome	Increased subcutaneous truncal adipose tissue, Failure to thrive, Camptodactyly of finger, Recurr...	ORPHA:3455
Biliary, Renal, Neurologic, And Skeletal Syndrome	Elevated gamma-glutamyltransferase level, Cholestasis, Hyperbilirubinemia, Congenital hepatic fib...	OMIM:619534
Mucolipidosis Ii Alpha/Beta	Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly, Hepatomegaly, Enlarged kidney	OMIM:252500
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Hepatic sinusoidal dilatation, Splenic cyst, Cryptorchidism, Patent foramen ovale, Cardiomegaly, ...	OMIM:620371
Neurodegeneration And Seizures Due To Copper Transport Defect	Cardiomegaly	OMIM:620306
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Cardiomegaly, Right ventricular hypertrophy	ORPHA:268
Tropical Endomyocardial Fibrosis	Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Ascites, Right ventri...	ORPHA:75565
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Cardiomegaly, Cryptorchidism, Ventricular septal defect	ORPHA:96191
Beckwith-Wiedemann Syndrome	Pancreatic hyperplasia, Cardiomyopathy, Cryptorchidism, Cardiomegaly, Hepatoblastoma, Hepatomegal...	OMIM:130650
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Cryptorchidism, Pa...	OMIM:300967
Congenital Tracheomalacia	Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Atrial s...	ORPHA:95430
Absence Of The Pulmonary Artery	Abnormal heart morphology, Tetralogy of Fallot, Patent foramen ovale, Truncus arteriosus, Cardiom...	ORPHA:980
Blau Syndrome	Posterior uveitis, Keratitis, Xerostomia, Camptodactyly of finger, Abnormality of the liver, Clea...	ORPHA:90340
Homozygous Familial Hypercholesterolemia	Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Hepatic steatosis	ORPHA:391665
Johanson-Blizzard Syndrome	Elevated gamma-glutamyltransferase level, Elevated circulating alanine aminotransferase concentra...	OMIM:243800
Bohring-Opitz Syndrome	Cardiomegaly, Cholelithiasis, Annular pancreas, Abnormal cardiac septum morphology	ORPHA:97297
Histiocytoid Cardiomyopathy	Hepatomegaly, Cardiomegaly, Ventricular septal defect, Polycystic ovaries	ORPHA:137675
Aicardi-Goutières Syndrome	Neonatal alloimmune thrombocytopenia, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Chronic ly...	ORPHA:51
Congenital Total Pulmonary Venous Return Anomaly	Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous...	ORPHA:99125
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy	ORPHA:365
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Cardiomegaly, Bicuspid aortic valve	ORPHA:91387
Mowat-Wilson Syndrome	Bifid uvula, Submucous cleft of soft and hard palate, Vomiting, Recurrent otitis media, Decreased...	ORPHA:2152
Proteus Syndrome	Thymus hyperplasia, Neoplasm of the thymus, Splenomegaly, Lymphangioma, Enlarged polycystic ovari...	ORPHA:744
Yunis-Varon Syndrome	Cardiomyopathy, Tetralogy of Fallot, Cryptorchidism, Ventricular septal defect, Cardiomegaly, Atr...	ORPHA:3472
Williams Syndrome	Cholelithiasis, Hypertrophic cardiomyopathy, Tetralogy of Fallot, Cryptorchidism, Mitral valve pr...	ORPHA:904
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Ascites, Pancreatic calcification, Cardiomegaly, Hepatic calcification, ...	ORPHA:51608
Singleton-Merten Syndrome 1	Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Mitral valve calcification, Subv...	OMIM:182250

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Fhip2b

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Fhip2b.

No publications found that use IMPC mice or data for Fhip2b.

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MGI Allele	Allele Type	Produced
Fhip2b^{em1(IMPC)Ccpcz}	Exon Deletion	Mice, Tissue
Fhip2b^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Fhip2b MGI:3036290

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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X-ray

X-ray

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X-ray

Human diseases caused by Fhip2b mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data