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Gene: Fhip2b MGI:3036290

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Gene Summary

Name:
FHF complex subunit HOOK interacting protein 2B
Synonyms:
G430067P06Rik,  Fam160b2,  Rai16

Order Alleles

IMPC Data Collections

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 System Allele Zyg Sex Life Stage P Value
enlarged heart Fhip2bem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal thymus morphology Fhip2bem1(IMPC)Ccpcz HOM Early adult 0.00
enlarged spleen Fhip2bem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal spleen morphology Fhip2bem1(IMPC)Ccpcz HOM Early adult 0.00
enlarged thymus Fhip2bem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal heart morphology Fhip2bem1(IMPC)Ccpcz HOM Early adult 0.00

Download data as:  TSV  XLS

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

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X-ray

XRay Images Hind Leg and Hip

32 Images

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X-ray

XRay Images Forepaw

16 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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X-ray

XRay Images Skull Lateral Orientation

16 Images

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X-ray

XRay Images Whole Body Dorso Ventral

32 Images

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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.

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 Similarity of
phenotypes		 Matching phenotypes Source
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Acne, Recurrent skin infection... OMIM:300635
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... OMIM:614480
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly, Anemia ORPHA:294
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Ethanolaminosis
Cardiomegaly OMIM:227150
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... OMIM:616829
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Elevated circulating C-reactive protein concentration, Leukocytosis, Ulcerative colitis, Bloody d... OMIM:619398
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Conjugated ... OMIM:607765
Macrophage Activation Syndrome
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... ORPHA:158061
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Acne, Elevated circulating C-reactive protein concentration, Microcytic anemia, Elb... OMIM:604416
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg... OMIM:613101
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopeni... OMIM:278000
Diarrhea 13
Elevated hepatic transaminase, Secretory diarrhea, Hypoalbuminemia, Vomiting, Failure to thrive, ... OMIM:620357
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Splenomeg... OMIM:612526
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:619868
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase OMIM:618400
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypersplenism, Splenomegaly, Thrombocytopenia, Hypocholesterolemia, Anemia OMIM:610539
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... OMIM:610717
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Hypertriglyceridemia, Skin rash, Failure to thrive in infancy, Splenomegaly OMIM:619175
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ... OMIM:232700
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... OMIM:619802
Chylomicron Retention Disease
Failure to thrive, Diarrhea, Malnutrition, Accumulation of lipid droplets in small-bowel enterocy... OMIM:246700
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... OMIM:613812
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... OMIM:616828
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra... ORPHA:139507
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest... OMIM:607685
Immunodeficiency 76
B-cell lymphoma, Splenomegaly, Chronic diarrhea, Recurrent pneumonia, Lymphadenopathy, T lymphocy... OMIM:619164
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Increased LDL cholesterol... OMIM:615703
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia ORPHA:46532
Autoimmune Hepatitis
Fulminant hepatitis, Increased circulating IgG level, Inflammation of the large intestine, Acute ... ORPHA:2137
Immunodeficiency 104
Hepatomegaly, Eczema, Pneumonia, Splenomegaly, Diarrhea, Chronic mucocutaneous candidiasis, Lymph... OMIM:608971
Chylomicron Retention Disease
Elevated hepatic transaminase, Hypertriglyceridemia, Acanthocytosis, Abdominal distention, Diarrh... ORPHA:71
X-Linked Agammaglobulinemia
Sinusitis, Glossoptosis, Neoplasm, Conjunctivitis, Hypocalcemia, Neutropenia, Chronic otitis medi... ORPHA:47
Immunodeficiency 69
Pancytopenia, Skin rash, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis... OMIM:618963
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Neutrophi... ORPHA:829
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Failure to thrive, Skin rash, Villous atrophy, Elevated circulating C-reactive prot... OMIM:616050
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Elevated circulating C-reactive protein concentration, Squamous cell carcinoma, Prostate cancer, ... ORPHA:158057
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent... ORPHA:540
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Failure to thrive in infancy, Microcytic anemia, Elevated circulating alanine amino... OMIM:618805
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... OMIM:615395
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Eosinophilia, Pneumonia, Anorexia, Diarrhea, Recurrent pneumonia, Hepatitis, Erythro... ORPHA:169160
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... ORPHA:79303
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Pancytopenia, Failure to thrive, Elevated circulating creatinine concentration, Vom... OMIM:617872
Complement Component C1S Deficiency
Hepatitis, Hashimoto thyroiditis OMIM:613783
Lipodystrophy, Partial, Acquired, Susceptibility To
Membranoproliferative glomerulonephritis, Progressive loss of facial adipose tissue, Loss of trun... OMIM:608709
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Congenital Disorder Of Glycosylation, Type Iir
Elevated hepatic transaminase, Hepatomegaly, Decreased proportion of CD4-positive T cells, Jaundi... OMIM:301045
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Skin rash, Splenomegaly, Increased circulating ferritin conce... OMIM:603552
Cholesteryl Ester Storage Disease
Nausea and vomiting, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Diarrhea, Esopha... ORPHA:75234
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Hypoalbuminemia, Obesity, Cardiomegaly ORPHA:88643
Galactosemia Iii
Hepatomegaly, Splenomegaly, Jaundice, Decreased beta-galactosidase activity, Vomiting, Hypergalac... OMIM:230350
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Small for gestational age, Portal h... ORPHA:567983
Trichohepatoenteric Syndrome 2
Hepatomegaly, Villous atrophy, Small for gestational age, Decreased serum iron, Diarrhea, Chronic... OMIM:614602
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:255120
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami... OMIM:615558
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Feeding difficulties... OMIM:619048
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy OMIM:312500
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Hepatomegaly, Lymphocytosis OMIM:606445
Patent Ductus Venosus
Hepatic steatosis, Hypergalactosemia, Hyperammonemia, Decreased liver function OMIM:601466
Hepatocellular Carcinoma
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis OMIM:114550
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... ORPHA:280356
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated circulating C-reactiv... OMIM:308240
Griscelli Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Pyloric stenosis, Hepatitis, De... ORPHA:381
Alpha-Heavy Chain Disease
Hepatomegaly, Abnormal small intestine morphology, Dysgammaglobulinemia, Malabsorption, Abdominal... ORPHA:100025
Hemochromatosis, Type 4
Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Oste... OMIM:606069
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Conjugated hyperbilirubinemia, Spleno... OMIM:214900
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Idiopathic Copper-Associated Cirrhosis
Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre... ORPHA:209919
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cholestasis, Neoplasm, Hypocalcemia, Failure... ORPHA:172
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Elevated ci... OMIM:214950
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Throm... ORPHA:905
Graft Versus Host Disease
Fasciitis, Myositis, Gastrointestinal inflammation, Vomiting, Acute hepatitis, Nausea, Dupuytren ... ORPHA:39812
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Bloody diarrhea, Hypoplasia of the thymus, Psoriasiform dermatitis, Leukocytosis, ... OMIM:243150
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Reticulocytosis, Splenomegaly, Increased circulating ferritin concentration, Jaundi... OMIM:194380
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:600649
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Hepatitis, Cholestasis, Obesity, Increased LDL cholesterol concentration, A... ORPHA:209902
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Malabsorption, Cellulitis, Diarrh... ORPHA:33110
Hyperlipoproteinemia, Type Id
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre... OMIM:615947
Immunodeficiency 48
Hepatomegaly, Failure to thrive, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Diarrh... OMIM:269840
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:620010
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Poor appetite, Hypoalbuminemia, Elevated gamma-glutamylt... ORPHA:247598
Peroxisome Biogenesis Disorder 3B
Hepatomegaly, Very long chain fatty acid accumulation, Elevated circulating phytanic acid concent... OMIM:266510
Combined Oxidative Phosphorylation Deficiency 52
Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulating asparta... OMIM:619386
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, ... ORPHA:848
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Secretory diarrhea, Abnormal blood ion concentration, Iron deficiency anemia, Tubuloint... ORPHA:37042
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hepatomegaly, Hemolytic ... OMIM:308230
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Porphyria Cutanea Tarda
Abnormal circulating porphyrin concentration, Elevated hepatic iron concentration, Hepatic steato... ORPHA:101330
Lipodystrophy, Familial Partial, Type 6
Lipodystrophy, Elevated circulating creatine kinase concentration, Hyperlipidemia, Abdominal obes... OMIM:615980
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Secondary Intestinal Lymphangiectasia
Intestinal bleeding, Hypoalbuminemia, Vomiting, Hypocholesterolemia, Constrictive pericarditis, A... ORPHA:90363
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st... OMIM:605814
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... OMIM:618528
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Rectal fistula, Elev... OMIM:616433
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Decreased circu... OMIM:618394
Congenital Disorder Of Glycosylation, Type Iih
Failure to thrive in infancy, Elevated circulating aspartate aminotransferase concentration, Elev... OMIM:611182
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Hepatic steatosis, Increased C-peptide level OMIM:615238
Immunodeficiency 27A
Increased inflammatory response, Pneumonia, Anorexia, Splenomegaly, Leukocytosis, Diarrhea, Hepat... OMIM:209950
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... OMIM:603471
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Chronic diarrhea, Recurrent pneumonia, Decreased circulating total Ig... OMIM:619281
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Hypertriglyceridemia, Generalized lymphadenopathy, Splenomegaly, Bronchiectasis, Ho... OMIM:620282
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... ORPHA:42
Autoimmune Lymphoproliferative Syndrome
Non-Hodgkin lymphoma, Uveitis, Increased circulating IgG level, Colitis, Thyroid carcinoma, Lymph... ORPHA:3261
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Nausea and vomiting, Portal hypertension, Abdominal pa... ORPHA:1414
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula... ORPHA:436159
Niemann-Pick Disease, Type B
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel... OMIM:607616
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Hepatic steatosis ORPHA:436182
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatic failure, Hepatitis ORPHA:60
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Abnormal CD4:CD8 ratio, Acute otitis media, T lymphocytopenia, Neutropenia, Autoimmune... ORPHA:572
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Increased sarcoplasmic glycogen, Increased bo... ORPHA:264580
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435660
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Complement Component 4B Deficiency
Chronic active hepatitis, Chronic diarrhea, Recurrent pneumonia, Recurrent sinusitis, Recurrent o... OMIM:614379
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Elevated circulating alpha-fetopr... OMIM:251880
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Psoriasiform dermatitis, Decreased LDL cholesterol conce... OMIM:616834
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Increased circulating ferritin concentration, Elevat... OMIM:613313
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, Chronic diarrhea, Lymphadenop... ORPHA:911
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Chronic diarrhea, Anemia, Leukopenia, I... OMIM:615285
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hypertriglyceridemia, Microcytic anemia, Feeding difficulties in i... OMIM:619013
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Pseudomyxoma Peritonei
Abnormal peritoneum morphology, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Lymp... ORPHA:26790
Amoebiasis Due To Entamoeba Histolytica
Elevated hepatic transaminase, Intestinal obstruction, Liver abscess, Acute colitis, Lung abscess... ORPHA:67
Glycogen Storage Disease Ixb
Hepatomegaly, Splenomegaly, Diarrhea, Increased muscle glycogen content, Hyperuricemia, Increased... OMIM:261750
Rotor Syndrome
Abnormal circulating enzyme concentration or activity, Conjugated hyperbilirubinemia, Jaundice, I... ORPHA:3111
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Thrombocy... OMIM:304790
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Generalized lymphadenopathy, Villous atrophy, Uveitis, Inflammation of the la... OMIM:614700
Alpha-1-Antitrypsin Deficiency
Elevated hepatic transaminase, Splenomegaly, Bronchiectasis, Cirrhosis, Hepatocellular carcinoma,... OMIM:613490
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Failure to thrive, Hepatic steatosis, Feeding d... ORPHA:26792
Lipodystrophy, Familial Partial, Type 4
Lipoatrophy, Lipodystrophy, Hypertriglyceridemia, Hepatic steatosis OMIM:613877
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Increas... OMIM:616860
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Necrotizing enterocolitis, Elevated circulating creatine kinase concentration, Card... OMIM:201475
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Hepatocellular carcinoma ORPHA:882
Immunodeficiency 47
Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal... OMIM:300972
Immunodeficiency 70
Decreased circulating total IgG, Furuncle, Celiac disease, Decreased circulating antibody level, ... OMIM:618969
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:212140
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Decreased proportion of naive T cells, Elevated circulating C-reactive protein c... OMIM:619381
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614582
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, El... OMIM:615559
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Hepatomegaly, Fetal ascites OMIM:619462
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... OMIM:619658
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Biliary tract abnormality, Chronic ... OMIM:209920
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... OMIM:616278
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Minimal chan... OMIM:617006
Primary Biliary Cholangitis
Portal hypertension, Increased circulating IgA level, Conjugated hyperbilirubinemia, Celiac disea... ORPHA:186
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435651
Congenital Bile Acid Synthesis Defect Type 1
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Malabsorption, Splenome... ORPHA:79301
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Intrahepatic cholestasis, Jaundic... OMIM:235555
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:614921
Avian Influenza
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu... ORPHA:454836
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, B-cell lymphoma, Elevated ci... OMIM:613011
Congenital Enterovirus Infection
Abnormal macrophage morphology, Skin rash, Fetal ascites, Thrombocytopenia, Leukocytosis, Myocard... ORPHA:292
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... ORPHA:228305
Liver Failure, Infantile, Transient
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Feeding difficulties in infan... OMIM:613070
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatomegaly, Protein avoidance, Hyperammonemia, Hyperornithinemia, Decreased liver function, Acu... OMIM:238970
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Abdominal colic, Hyperlipidemia, Diarrhea, Hypoalbuminemia, Vomiting, Protein-lo... OMIM:615863
Citrullinemia Type Ii
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... ORPHA:247585
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Splenomegaly, Diarrhea, In... OMIM:601847
Pancreatic Lipase Deficiency
Fat malabsorption, Steatorrhea, Hypocholesterolemia OMIM:614338
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Intrahepatic cholestasis, Jaundice, S... OMIM:602347
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Granuloma... ORPHA:562639
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:615895
Trimethylaminuria
Splenomegaly, Anemia, Neutropenia OMIM:602079
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Peroxisomal Acyl-Coa Oxidase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Dysphagia, ... OMIM:264470
Acquired Partial Lipodystrophy
Lipoatrophy, Hepatic steatosis, Lymphocytosis ORPHA:79087
Primary Sclerosing Cholangitis
Acute hepatic failure, Abnormal eosinophil morphology, Uveitis, Hypoalbuminemia, Hepatic fibrosis... ORPHA:171
Legionnaires Disease
Hyponatremia, Nausea and vomiting, Pericarditis, Anorexia, Abdominal pain, Splenomegaly, Jaundice... ORPHA:549
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, H... OMIM:306000
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Hepatic steatosis, Pancreatitis, Lipoatrophy ORPHA:79084
Harderoporphyria
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Increased circulating ferritin con... OMIM:618892
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Elevated circulating C-reactive protein concentration, Abdominal pain, Erythema nodosu... OMIM:611762
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, B-cell lymphoma, Anorexia, Splenomegaly, Lymphoma, Breast carcinoma, Lymphadenopath... ORPHA:86893
Congenital Disorder Of Glycosylation, Type Iil
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase c... OMIM:614576
Immunodeficiency 56
Recurrent infection of the gastrointestinal tract, Failure to thrive, Cholangitis, Chronic diarrh... OMIM:615207
Immunodeficiency, Common Variable, 11
Failure to thrive, Mucoid diarrhea, Increased circulating IgE level, Decreased proportion of clas... OMIM:615767
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Hemolytic anemia, Lymphoproliferative disorder, Autoimmune thrombocyt... OMIM:614470
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Hepatomegaly, Portal hypertension OMIM:617068
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hyper... OMIM:618641
Congenital Generalized Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Adipose tissue loss, Macroglossia, Cirrhosis, ... ORPHA:528
Activated Pi3K-Delta Syndrome
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Lymphoma, Bronchiectasis, Lymphaden... ORPHA:397596
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Macrocytic anemia, Failure to... OMIM:615438
Gracile Syndrome
Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce... ORPHA:53693
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, B... OMIM:226990
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... OMIM:604367
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Reduced intraabdominal a... ORPHA:363400
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorex... ORPHA:507
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis OMIM:269600
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Increased cir... ORPHA:36234
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Hepatic steatosis OMIM:261650
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Elevated circul... OMIM:613327
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Increased intraabdominal fat, Hepatic steatosis ORPHA:79085
Hepatoportal Sclerosis
Portal vein thrombosis, Leukopenia, Hypoalbuminemia, Portal hypertension, Intrahepatic portal vei... ORPHA:64743
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Failure to thrive, Villous atrophy, Fe... OMIM:212065
Immunodeficiency, Common Variable, 2
Hepatomegaly, Follicular hyperplasia, Splenomegaly, Diarrhea, Recurrent pneumonia, Lymphoma, Bron... OMIM:240500
Galactose Epimerase Deficiency
Nausea and vomiting, Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Feeding difficulties ORPHA:79238
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619662
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... ORPHA:79095
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Eosinophilia, Elevated circulating C-reactive protein ... ORPHA:2070
Combined Oxidative Phosphorylation Deficiency 21
Hyperalaninemia, Hepatic steatosis, Hyperprolinemia OMIM:615918
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... OMIM:207750
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Abdominal distention, Hyperlipide... ORPHA:369
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ... OMIM:614300
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hypert... OMIM:615381
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Hip contracture, Necrotizing enterocolitis, Inguinal hernia, Elevated circulating creatine kinase... OMIM:616809
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Increased circulati... ORPHA:766
Familial Partial Lipodystrophy, Dunnigan Type
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:2348
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia, Pneumonia, Increased circulating IgE level, Chronic diarrhea, Atopic dermatitis, Ul... OMIM:617638
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Poor appetite, Abdomina... ORPHA:319218
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Increased circulating interleukin 6 concentration, Skin rash, Elevated circula... OMIM:301074
Caroli Disease
Liver abscess, Cholangitis, Anorexia, Conjugated hyperbilirubinemia, Hepatic fibrosis, Vomiting, ... ORPHA:53035
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septal defect, Hyp... OMIM:620135
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Shigellosis
Anorexia, Intestinal perforation, Abnormal blood ion concentration, Uveitis, Bloody diarrhea, Par... ORPHA:810
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hepatomegaly, Hashimoto thyroiditis, Poor appetite, Jaundice, Fulm... OMIM:618549
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,... OMIM:613404
Coproporphyria, Hereditary
Hepatomegaly, Increased fecal coproporphyrin III:coproporphyrin I ratio, Increased fecal copropor... OMIM:121300
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, P... OMIM:618398
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated hepatic transaminase, Abnormality of the gastrointestinal tract, Small intestinal dysmot... ORPHA:298
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites OMIM:271500
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Hepatomega... OMIM:151660
Sepsis In Premature Infants
Hepatomegaly, Increased circulating interleukin 6 concentration, Small for gestational age, Eleva... ORPHA:90051
Potocki-Lupski Syndrome
Small for gestational age, Oral-pharyngeal dysphagia, Feeding difficulties in infancy, Gastroesop... OMIM:610883
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Lymphoproliferative disorder, B-cell lymphoma, Auto... OMIM:300853
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl... OMIM:617514
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Bronchiectasis, Lymphadenopathy, Decreased proportion of class-switched memory B ce... OMIM:615513
Ficolin 3 Deficiency
Necrotizing enterocolitis, Verrucae OMIM:613860
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Cardiomegaly, Hypoalbuminemia, Hepatic fibrosis, Vomitin... ORPHA:14
Macrocephaly-Intellectual Disability-Autism Syndrome
Intestinal polyposis, Hurthle cell thyroid adenoma, Multiple lipomas, Thyroid carcinoma, Lymphoid... ORPHA:210548
Immunodeficiency 57 With Autoinflammation
Failure to thrive, Gastritis, Skin rash, Perianal abscess, Diarrhea, Bronchiectasis, Decreased ci... OMIM:618108
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Eczema, Anal fissure, Abscess, Perianal abscess, Splenomega... OMIM:618935
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Conjuga... OMIM:617093
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Combined Saposin Deficiency
Splenomegaly, Hepatomegaly, Abnormal glycosphingolipid metabolism, Feeding difficulties OMIM:611721
Interstitial Lung And Liver Disease
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, E... OMIM:615486
Ddost-Cdg
Elevated hepatic transaminase, Lipodystrophy, Gastroesophageal reflux, Constipation, Failure to t... ORPHA:300536
Pparg-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipoatrophy, Sp... ORPHA:79083
Squalene Synthase Deficiency
Failure to thrive in infancy, Increased circulating farnesol concentration, Elbow flexion contrac... OMIM:618156
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Myositis, Hypertriglyceridemia, Sinusitis, Skin rash... OMIM:617591
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly ORPHA:417
Immunodeficiency, Common Variable, 1
Hepatomegaly, Pneumonia, Splenomegaly, Diarrhea, Recurrent pneumonia, Neutropenia in presence of ... OMIM:607594
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
5-Oxoprolinase Deficiency
Abdominal pain, Diarrhea, Enterocolitis, Reduced 5-oxoprolinase level, Vomiting OMIM:260005
Hemochromatosis, Type 2A
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Arthritis, Increased se... OMIM:602390
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Eosinophilia, Pustule, Myocardit... ORPHA:139402
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Hepatomegaly, Viral hepatitis, Abdominal pain, Splenomegaly, Mediast... ORPHA:91138
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Feeding difficulties, Hepatic steatosis, Bloody diarrhea OMIM:615119
Familial Chylomicronemia Syndrome
Nausea and vomiting, Acute pancreatitis, Hypertriglyceridemia, Perianal abscess, Hyperlipidemia, ... ORPHA:444490
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Portal hypertension, Gastrostomy tube f... OMIM:613385
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam... ORPHA:71212
Dpm1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... ORPHA:79322
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Abdominal pain, Perianal abscess, Perit... ORPHA:2686
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Villous atrophy, Elevated circulating C-reactive protein concentration, Secre... OMIM:619573
Sandhoff Disease
Splenomegaly, Hepatomegaly, Abnormal glycosphingolipid metabolism, Failure to thrive ORPHA:796
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Conjugated hyperb... OMIM:208085
Lipodystrophy, Familial Partial, Type 1
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride... OMIM:608600
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Lymphopenia, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatit... OMIM:616100
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Sple... OMIM:615234
Sweet Syndrome
Predominantly dermal neutrophilic infiltrate, Increased circulating interleukin 6 concentration, ... ORPHA:3243
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Ascites, Anemia ORPHA:858
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Failure to thrive, Eczema, Absent peripheral lymph nodes in presence of infection, Abnormal immun... ORPHA:98813
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kina... OMIM:266200
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Infectious ence... OMIM:616098
Wilson Disease
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Hypoalb... OMIM:277900
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Lymphocytic interstitial pneumonia,... OMIM:618495
Congenital Isolated Acth Deficiency
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hepatitis, Prolonged neonatal j... ORPHA:199296
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Melioidosis
Foot osteomyelitis, Brain abscess, Liver abscess, Lung abscess, Pneumonia, Abnormality of the spl... ORPHA:31202
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Bile Acid Malabsorption, Primary, 2
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:619481
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr... ORPHA:231226
Wolman Disease
Nausea and vomiting, Hepatomegaly, Bone-marrow foam cells, Cachexia, Splenomegaly, Abdominal dist... ORPHA:75233
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Acanthocytosis, Abnorma... ORPHA:96180
Isolated Sedoheptulokinase Deficiency
Inguinal hernia, Portal hypertension, Flexion contracture, Hepatitis, Cholestasis, Hypochromic mi... ORPHA:440713
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Spl... OMIM:211600
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Generalized lymphadenopathy, Bloody diarrhea, Hepatic steatosis, Hepatomegaly... OMIM:615846
Late-Onset Isolated Acth Deficiency
Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Macrocytic anemia, Nausea ... ORPHA:199299
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... OMIM:267700
Pfapa Syndrome
Nausea and vomiting, Hepatomegaly, Malabsorption, Abdominal pain, Splenomegaly, Lymphadenopathy, ... ORPHA:42642
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia ORPHA:721
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Obesit... ORPHA:98907
Budd-Chiari Syndrome
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Gastrointestinal hemorrhage, ... ORPHA:131
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Decreased proportion of naive T cells, Aplasia of the thymus, Sinusitis, Pneum... ORPHA:83471
Schnitzler Syndrome
Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Lymphoma, Lymphadenopathy, Increased circula... ORPHA:37748
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Colitis, Pyoderma, Crohn's disease OMIM:613148
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Elevated circulating acylcarnitine concentr... ORPHA:99901
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Microvesicular hepatic steatosis, Vacuolated lymphocytes, Hepatic fibrosi... ORPHA:275761
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium OMIM:616868
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Eosinophilia, Atopic dermatitis, Hepatosplenomegaly, Membranous ... OMIM:618999
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Hyperlipoproteinemia, Type I
Nausea, Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Episodic abdominal pain, Lact... OMIM:238600
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Increased circulating thyroglobulin level, Portal hypertension, Hiatus hernia, Panc... OMIM:610199
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Acute hepatic failure, Pancytopenia, Failure to thrive in infancy, Cholangitis, Portal hypertensi... ORPHA:228426
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Enamel hypoplasia, Hepatitis ORPHA:363523
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Inflammation o... OMIM:266600
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Weight loss, Increased circul... ORPHA:100024
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating creatine kinase concentration, ... ORPHA:369840
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... OMIM:615595
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Lymphoproliferative disorder, Splenomegaly, Recurren... OMIM:615122
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundi... OMIM:612714
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ... ORPHA:412
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Feeding difficulties in infancy, Hepatomegaly, Hypocholesterolemia OMIM:618810
Q Fever
Anorexia, Abnormality of the liver, Cholecystitis, Infectious encephalitis, Hepatomegaly, Maculop... ORPHA:781
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Oropharyngeal squamous cell carcinoma, Villous atrophy, T lymphocytopenia, Infectious encephaliti... ORPHA:391487
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Abnormal circulating enzyme concentration or activity, Gastroesophageal reflux, Decreased liver f... ORPHA:70472
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Anterior uveitis, Skin rash, Colitis, Ileal ulcer, Lymphopenia, Thrombocytopenia OMIM:616744
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i... OMIM:619220
Hurler-Scheie Syndrome
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Cardiomy... ORPHA:93476
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Failure to thrive, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta T... OMIM:619824
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Nausea and vomiting, Hepatomegaly, Anorexia, Abdominal pain, Splenomegaly, Thrombocytopenia, Hype... ORPHA:79312
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ... OMIM:603554
Autoimmune Polyendocrine Syndrome, Type Ii
Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Chronic mucocutaneous candidiasis, Iron deficien... OMIM:269200
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... ORPHA:75564
Obesity And Hypopigmentation
Hepatic steatosis, Obesity OMIM:620195
Aggressive Systemic Mastocytosis
Anorexia, Neutropenia, Maculopapular exanthema, Portal hypertension, Abdominal pain, Leukocytosis... ORPHA:98850
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Pericarditis, Anterior uveitis, Skin rash, Elevated circulating C-reactive protein ... ORPHA:85414
Ghosal Hematodiaphyseal Dysplasia
Splenomegaly, Anemia ORPHA:1802
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Griscelli Syndrome Type 2
Nausea and vomiting, Hepatomegaly, Pancytopenia, Splenomegaly, Hyperlipidemia, Jaundice, Lymphade... ORPHA:79477
Syndromic Diarrhea
Hepatomegaly, Villous atrophy, Dependency on intravenous nutrition, Gastritis, Small for gestatio... ORPHA:84064
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct prolif... OMIM:613027
B4Galt1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Inflammatory abnormality of the skin, Abnormal circu... ORPHA:79332
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Abdominal pain, Mi... OMIM:619377
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Low plasma citrulline, Elevated circulating alanine aminotransferase concentration,... OMIM:261680
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Astrocytoma, Lymphoma, Generalized lipody... ORPHA:79086
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Mpi-Cdg
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal circulating enzyme concentration or activity,... ORPHA:79319
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... OMIM:619375
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Failure to thrive, Macrovesicular hepatic steatosis OMIM:618234
Indolent Systemic Mastocytosis
Hepatomegaly, Maculopapular exanthema, Skin rash, Hematological neoplasm, Splenomegaly, Lymphaden... ORPHA:98848
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Ascites OMIM:269920
Aspergillosis
Sinusitis, Osteomyelitis, Eosinophilia, Pneumonia, Hematological neoplasm, Keratitis, Increased c... ORPHA:1163
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Periodontitis, Hepatic steatosis, Hepatomegaly, Anemia, Hepa... ORPHA:79259
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Feeding difficulties, Decreased s... ORPHA:541423
Alg12-Cdg
Hypoalbuminemia, Gastroesophageal reflux, Hypocholesterolemia, Hyponatremia, Partial absence of s... ORPHA:79324
Pediatric Hepatocellular Carcinoma
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Abdominal pain, Portal vein t... ORPHA:33402
Congenital Disorder Of Glycosylation, Type Iij
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Splenomegaly, Chronic diarrhea, F... OMIM:613489
Tangier Disease
Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Abdominal... ORPHA:31150
Immunodeficiency 92
Hepatomegaly, Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Chronic diarrhea, Decreased pr... OMIM:619652
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Recur... OMIM:617718
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Microvesicula... OMIM:619418
Heme Oxygenase 1 Deficiency
Hepatomegaly, Increased circulating interleukin 6 concentration, Hemolytic anemia, Increased circ... OMIM:614034
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating creatine kinase concentration, Cardiomegaly, Feeding difficulties in infancy... OMIM:608836
Congenital Macroglossia
Macroglossia, Neurofibroma, Abnormal hepatic glycogen storage ORPHA:2430
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Intestinal perforation, Rectal prolapse, Bloody diarrhea, Vomiting, Acute colitis, Hyponatremia, ... ORPHA:90038
Cinca Syndrome
Skin rash, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Uve... OMIM:607115
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Pancytopenia, Sk... OMIM:603553
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Hyperlipidemia, N... OMIM:232220
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... OMIM:617388
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Celiac disease, Iridocyclitis... ORPHA:227990
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reduced haptoglobin level, Reticulocytosis OMIM:612126
Alstrom Syndrome
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Chronic act... OMIM:203800
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Abdominal pain, Splenomegaly, Jaundice, Leukocytosis, Unconjugated... OMIM:300908
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hemolytic anemia, Pericarditis, ... OMIM:619487
Aicardi-Goutieres Syndrome 6
Hepatomegaly, Hemolytic anemia, Chilblains, Splenomegaly, Feeding difficulties, Thrombocytopenia OMIM:615010
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, A... OMIM:619079
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Classic Mycosis Fungoides
Hepatomegaly, Skin rash, Eczema, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Lymphadenopat... ORPHA:2584
Epidermolysis Bullosa Acquisita
Atypical scarring of skin, Inflammation of the large intestine, Abdominal pain ORPHA:46487
Lichen Planopilaris
Neoplasm of the oral cavity, Abnormal intestine morphology, Hepatitis ORPHA:525
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Splenomegaly, Anemia, Abnormality of iron homeostasis ORPHA:75563
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Liver abscess, Cholangitis, Cholecystitis, Decreased circulating IgG level, Ps... ORPHA:183675
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... ORPHA:73263
Gaucher Disease Type 2
Splenomegaly, Hepatomegaly, Flexion contracture, Dysphagia ORPHA:77260
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Cardiomegaly OMIM:300886
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:212138
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Protein avoidance, Hepatitis, Hyp... ORPHA:415
Idiopathic Hypereosinophilic Syndrome
Generalized lymphadenopathy, Cholangitis, Feeding difficulties in infancy, Colitis, Vomiting, Neu... ORPHA:3260
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly, Diarrhea, Hype... OMIM:615387
Familial Atrial Myxoma
Cardiomegaly, Pulmonic valve myxoma, Jaundice, Cardiac myxoma, Cholestasis, Bacterial endocarditi... ORPHA:615
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Barrett esophagus, Intestinal m... OMIM:619350
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Hepatomega... ORPHA:280365
Congenital Disorder Of Glycosylation, Type Ik
Splenomegaly, Hepatomegaly, Cardiomyopathy OMIM:608540
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Celiac disease, Iridocyclitis... ORPHA:227982
Portal Hypertension, Noncirrhotic, 2
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi... OMIM:619463
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly OMIM:252920
Dehydrated Hereditary Stomatocytosis
Portal vein thrombosis, Polycythemia, Congenital hemolytic anemia, Abnormal blood potassium conce... ORPHA:3202
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Abdominal colic, Liver abscess, Cholangitis, Overweight, Intrahepa... ORPHA:69663
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Anorexia, Abnormality of the spleen, Lymphadenitis, Vomiting, I... ORPHA:2552
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar... OMIM:603903
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... ORPHA:228308
Agammaglobulinemia, X-Linked
T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circulating ... OMIM:300755
Sickle Cell Anemia
Pigment gallstones, Hemolytic anemia, Reticulocytosis, Increased circulating lactate dehydrogenas... ORPHA:232
Neuraminidase Deficiency
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Cardiom... OMIM:256550
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hepatic failure, Pyloric stenosis, Hyperammonemia ORPHA:664
Hemophagocytic Syndrome Associated With An Infection
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Increased circul... ORPHA:158048
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Elevated hepatic transaminase, Failure to thrive, Conjugated hyperbilirubinemia... OMIM:617156
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Increased circulating lactate dehydroge... ORPHA:824
Sitosterolemia 1
Reticulocytosis, Hyperapobetalipoproteinemia, Increased circulating lactate dehydrogenase concent... OMIM:210250
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Increased circulating free fatty acid level, Enlarged tonsils, Truncal... ORPHA:293964
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Microvesicular hepatic steatosis, Osteomyelitis leading to amputation due ... OMIM:256810
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... OMIM:602450
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Elevated circulating C-reactive protein concentrati... ORPHA:324964
Immunodeficiency, Common Variable, 7
Splenomegaly, Chronic (near) absent circulating IgG4, Chronic diarrhea, Reduced isohemagglutinin ... OMIM:614699
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:79240
Congenital Disorder Of Glycosylation, Type Ie
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:608799
Cronkhite-Canada Syndrome
Intestinal polyposis, Hepatomegaly, Cachexia, Anorexia, Abdominal pain, Splenomegaly, Diarrhea, M... ORPHA:2930
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Enterocolitis, Ulcerative colitis, Decreased proportion of class-switched memory B cells, Decreas... OMIM:614878
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis OMIM:616719
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Lymphopenia, Recurrent skin infections, Splenomegaly, Cleft palate, Decreased circu... OMIM:620210
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased circulating lactate dehydrogenase conc... OMIM:224120
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Vomiting OMIM:201450
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:205400
Laterality Defects, Autosomal Dominant
Asplenia, Situs inversus totalis OMIM:601086
Classic Hodgkin Lymphoma
Hepatomegaly, Skin rash, Anorexia, Poor appetite, Splenomegaly, Lymphoma, Lymphadenopathy, Weight... ORPHA:391
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia ORPHA:163596
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... OMIM:613673
Relapsing Fever
Elevated hepatic transaminase, Neutrophilia, Elevated circulating C-reactive protein concentratio... ORPHA:91547
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, I... OMIM:601859
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Skin rash, Failure to thrive in infancy, Elevated circulating C-reactive protein co... OMIM:617099
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy, Cirrhosis, Hepatocellular carcinoma, As... OMIM:235200
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Diarrhea, Recurrent pneu... OMIM:150550
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:348
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Very long chain fatty acid acc... ORPHA:98908
Amyloidosis, Familial Visceral
Splenomegaly, Hepatomegaly, Cholestasis OMIM:105200
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614924
Mevalonic Aciduria
Elevated hepatic transaminase, Normocytic hypoplastic anemia, Failure to thrive, Skin rash, Eleva... OMIM:610377
Immunodeficiency 58
Recurrent cutaneous abscess formation, Helicobacter pylori infection, Eczema, Allergic rhinitis, ... OMIM:618131
Niemann-Pick Disease, Type A
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, B... OMIM:257200
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Nonspherocytic h... OMIM:235700
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Conjugated hyperbilirubin... ORPHA:30391
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
Desmoplastic Small Round Cell Tumor
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Nausea and vomiting, Test... ORPHA:83469
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Failure to thrive, Anisocytosis, Cardiomegaly, M... OMIM:618278
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:79292
Bile Acid Conjugation Defect 1
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:619232
Caroli Syndrome
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho... ORPHA:480520
Aicardi-Goutieres Syndrome 4
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Feed... OMIM:610333
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Elevated circulating alkaline phosphatase concentration, Hepatic steatosis, Elevated circulating ... ORPHA:52430
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting OMIM:142623
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgG level, Iron deficiency anemia, Increased B cell count, Nephritis, Eleva... OMIM:603909
Mcleod Syndrome
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:300842
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Splenomegaly, Thrombocytopenia, Recurrent pneumonia, Flexion contracture, Increased... OMIM:617303
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Deafness-Lymphedema-Leukemia Syndrome
Nausea and vomiting, Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute l... ORPHA:3226
Biliary Atresia, Extrahepatic
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... OMIM:210500
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis OMIM:611804
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Elevated circulating C-reactive protein concentration, Abdominal pain, Diarrhea, Colitis, Recurre... OMIM:613960
Isolated Anencephaly
Thymus hyperplasia ORPHA:563609
Combined Immunodeficiency-Enteropathy Spectrum
Omphalocele, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Intestinal malrotation, Abdomi... ORPHA:436252
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Splenomegaly, Hepatomegaly ORPHA:2204
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ... OMIM:249100
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Bardet-Biedl Syndrome 19
Hepatic steatosis, Obesity OMIM:615996
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Acne, Paradoxical increased cortisol secretion on dexamethasone suppression test, Dorsocervical f... ORPHA:189427
Omenn Syndrome
Hepatomegaly, Failure to thrive, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Chronic dia... ORPHA:39041
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephri... ORPHA:91139
Hereditary Chronic Pancreatitis
Abnormal circulating enzyme concentration or activity, Elevated circulating C-reactive protein co... ORPHA:676
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Hepatomegaly, Hyperparathyroidism, Anemia OMIM:618107
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Mccune-Albright Syndrome
Pancytopenia, Cutaneous myxoma, Hepatitis, Cholestasis, Hepatocellular adenoma, Breast carcinoma,... ORPHA:562
Thymoma
Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Neoplasm of head and neck, ... ORPHA:99867
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hyperammonemia, Feeding difficulties in infancy, Acute hepatic steatosis, Vomiting, Failure... OMIM:210200
Cinca Syndrome
Nausea and vomiting, Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive pr... ORPHA:1451
Felty Syndrome
Episcleritis, Hepatomegaly, Pericarditis, Sinusitis, Splenomegaly, Thrombocytopenia, Recurrent pn... ORPHA:47612
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Eleva... OMIM:611881
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Babesiosis
Nausea and vomiting, Hepatomegaly, Hemolytic anemia, Anorexia, Splenomegaly, Jaundice, Leukopenia... ORPHA:108
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ... OMIM:231005
Lipodystrophy, Congenital Generalized, Type 2
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Lipodystro... OMIM:269700
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... OMIM:612840
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis ORPHA:66518
Beta-Thalassemia Intermedia
Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ... ORPHA:231222
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Lipodystrophy, Congenital Generalized, Type 1
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Lipodystro... OMIM:608594
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Pneumonia, Enteroviral hepatitis, Diarrhea, Epididymitis, Prostatitis, Pyoderma, Conju... OMIM:307200
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Feeding difficulties, Anemia, Failure to thrive, Thrombocytopenia OMIM:615085
Dubowitz Syndrome
Inguinal hernia, Aplastic anemia, Eczema, Feeding difficulties in infancy, Velopharyngeal insuffi... OMIM:223370
Myasthenia Gravis
Hemolytic anemia, Myositis, Pure red cell aplasia, Hepatitis, Abnormal thymus morphology, Rheumat... ORPHA:589
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Inguinal hernia, Hyperhomocystinemia, High palate, Hypermethioninemia, Failure to thrive, Hepatic... OMIM:236200
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Myeloid leukemia, Nausea, Hepatomegaly, Neutrophilia, Myelodysplasia, Abdomina... ORPHA:98849
Linear Iga Dermatosis
Renal neoplasm, Inflammation of the large intestine, Bladder neoplasm ORPHA:46488
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly, Lymphadenopath... OMIM:301078
Cirrhosis, Familial
Abdominal distention, Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, E... OMIM:215600
Mucopolysaccharidosis Type 7
Inguinal hernia, Splenomegaly, Hepatitis, Umbilical hernia, Ascites ORPHA:584
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Anorexia, Reye syndrome-like epi... ORPHA:20
Postinfectious Vasculitis
Abnormal circulating protein concentration, Viral hepatitis, Inflammatory abnormality of the skin... ORPHA:48435
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Jaundice, Vomiting, Elevated circulating glutaric acid concentration, Hepatic perip... OMIM:231680
Liver Disease, Severe Congenital
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Vomiting, Hypocalcemia, Lymphoc... OMIM:619991
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Pyoderma Gangrenosum
Myositis, Myelodysplasia, Pustule, Inflammation of the large intestine, Atrophic scars, Increased... ORPHA:48104
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... OMIM:612567
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hepatomegaly, Neutrophilia, Osteomyelitis, Skin rash, Elevated circulating C-reactive protein con... OMIM:612852
Majeed Syndrome
Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Cachexia, Congenital hyp... ORPHA:77297
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Splenomegaly, Decreased beta-glucocerebrosidase level, Decreased body... OMIM:231000
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, B-cell lymphoma, Splenomegaly, Chronic diarrhea, Enlarged tonsils, Bronchiectasis, C... OMIM:616005
Adrenomyodystrophy
Failure to thrive, Hepatic steatosis, Abnormal intestine morphology ORPHA:977
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Feeding difficulties, Hypoalbuminemia, Macrovesicular hepatic stea... OMIM:618329
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated circulating C-reactive protein concentration, Leukopenia, Hashimoto thyroiditis, Hepatom... OMIM:615688
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Decreased circulating antibody level, Leukopenia, Colitis, Bone marrow hypoc... OMIM:615190
Psoriasis 14, Pustular
Psoriasiform dermatitis, Neutrophilia, Cholangitis, Elevated circulating C-reactive protein conce... OMIM:614204
Progeria-Short Stature-Pigmented Nevi Syndrome
Elevated hepatic transaminase, Neoplasm of the pancreas, Multiple joint contractures, Small for g... ORPHA:2959
Fanconi-Bickel Syndrome
Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Elevated circulating aspartate aminotransf... ORPHA:2088
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Splenomegaly, Chylopericardium, Pulmonic stenosis, Ascites ORPHA:2414
Sézary Syndrome
Hepatomegaly, Cutaneous T-cell lymphoma, Abnormal immunoglobulin level, Splenomegaly, Lymphoma, L... ORPHA:3162
Generalized Pustular Psoriasis
Hyponatremia, Elevated hepatic transaminase, Elevated circulating C-reactive protein concentratio... ORPHA:247353
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia ORPHA:158029
Joubert Syndrome 33
Splenomegaly OMIM:617767
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Intestinal perforation, Secretory diarrhea, Bl... ORPHA:544482
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:615356
Immunodeficiency 54
Hepatomegaly, Failure to thrive, Lymphoproliferative disorder, Splenomegaly, Lymphadenopathy, Red... OMIM:609981
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Skin rash, Autoimmune thrombocytopenia, Splenomegaly, ... ORPHA:100026
3-Methylglutaconic Aciduria, Type V
Elevated circulating aspartate aminotransferase concentration, Microvesicular hepatic steatosis, ... OMIM:610198
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Myopathy With Extrapyramidal Signs
Extremely elevated creatine kinase, Hepatomegaly, Elevated hepatic transaminase, Elevated circula... OMIM:615673
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Cardiomegaly OMIM:618838
Rajab Interstitial Lung Disease With Brain Calcifications 1
High palate, Hypoalbuminemia, Hypocalcemia, Vomiting, Gastroesophageal reflux, Hepatic steatosis,... OMIM:613658
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Abnormal dental enamel morphology, Portal hypertension, Splenomegaly, Jaundice, Sca... ORPHA:59303
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Adams-Oliver Syndrome 6
Ventricular septal defect, Portal hypertension, Splenomegaly, Hepatic fibrosis, Truncus arteriosus OMIM:616589
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Chronic active hepatitis, Malabsorption, Asplenia, Iridocyclitis, Diarrhea, C... OMIM:240300
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Fructose Intolerance, Hereditary
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Abdominal pain, Jaundic... OMIM:229600
Leptospirosis
Nausea and vomiting, Hepatomegaly, Pericarditis, Skin rash, Anorexia, Abdominal pain, Jaundice, D... ORPHA:509
Attrv30M Amyloidosis
Cardiomyopathy, Cardiomegaly ORPHA:85447
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Sinusitis, Hepatomegaly, B-cell lymphoma, Autoimmune thrombocytopenia, ... OMIM:102700
Rift Valley Fever
Elevated hepatic transaminase, Skin rash, Anorexia, Hematemesis, Thrombocytopenia, Jaundice, Hepa... ORPHA:319251
Hereditary Spherocytosis
Hepatomegaly, Reticulocytosis, Extramedullary hematopoiesis, Spontaneous hemolytic crises, Maculo... ORPHA:822
Pearson Syndrome
Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Hepatomegaly, Reticulocyt... ORPHA:699
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Feeding difficulties in infancy, Hepatic necrosis, Decreased 3-hydroxy... OMIM:231530
Seckel Syndrome 10
Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated circulating aspartate... OMIM:617253
Glycogen Storage Disease Ic
Hepatomegaly, Stomatitis, Cyclic neutropenia, Chronic pancreatitis, Hyperlipidemia, Gout, Xanthel... OMIM:232240
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Inflammatory Bowel Disease 11
Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine OMIM:191390
Fumarase Deficiency
Reduced subcutaneous adipose tissue, Necrotizing enterocolitis, Failure to thrive, Decreased fuma... OMIM:606812
Attrv122I Amyloidosis
Cardiomegaly, Cardiac amyloidosis, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Res... ORPHA:85451
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
Brucellosis
Liver abscess, Elevated circulating C-reactive protein concentration, Anorexia, Knee osteoarthrit... ORPHA:1304
Pseudo-Torch Syndrome 3
Cardiomegaly, Lymphadenitis, Leukocytosis, Congenital thrombocytopenia, Anemia OMIM:618886
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Fetal ascit... OMIM:261515
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Cold Agglutinin Disease
Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly ORPHA:56425
Tyrosinemia, Type I
Acute hepatic failure, Hypertyrosinemia, Hepatomegaly, Elevated hepatic transaminase, Gastrointes... OMIM:276700
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis OMIM:275630
19P13.12 Microdeletion Syndrome
Hyperlipidemia, Obesity, Cleft palate, Arthrogryposis multiplex congenita, Hepatic steatosis ORPHA:254346
Neonatal Lupus Erythematosus
Elevated hepatic transaminase, Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Mac... ORPHA:398124
Smith-Lemli-Opitz Syndrome
Facial capillary hemangioma, Gastrointestinal dysmotility, Hypoalbuminemia, Vomiting, Gastroesoph... OMIM:270400
Farber Lipogranulomatosis
Hepatomegaly, Splenomegaly, Arthritis, Lipogranulomatosis, Failure to thrive, Decreased acid cera... OMIM:228000
Ppoma
Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Intermittent jaundice, Episodic abdo... ORPHA:97278
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Abnormal circulating fatt... ORPHA:263455
Spondyloenchondrodysplasia
Enchondroma, Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Autoimmune thromboc... ORPHA:1855
Bloom Syndrome
Small for gestational age, Elevated hemoglobin A1c, Lymphoma, Bronchiectasis, Malar rash, Squamou... OMIM:210900
Gaucher Disease
Hepatomegaly, Pancytopenia, Osteomyelitis, Elevated circulating C-reactive protein concentration,... ORPHA:355
Kawasaki Disease
Nausea and vomiting, Pericarditis, Skin rash, Abdominal pain, Myocarditis, Leukocytosis, Cervical... ORPHA:2331
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f... OMIM:618652
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Adams-Oliver Syndrome 5
Portal vein thrombosis, Splenomegaly, Hypersplenism, Right ventricular hypertrophy, Pulmonic sten... OMIM:616028
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Sinusitis, Hypouricemia, Increased circulating guanosine concentrati... OMIM:613179
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Autoimmune hemolytic anemia, Myositis, Splenomegaly, Flexion contracture, Lymphaden... OMIM:619183
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abdominal pain, Abnormal erythrocyte morphology, Splenomegaly,... ORPHA:288
Common Variable Immunodeficiency
Elevated hepatic transaminase, Hemolytic anemia, Failure to thrive in infancy, Pneumonia, Autoimm... ORPHA:1572
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Increased circulating interleukin 8 concentration, Failure to thrive in infancy, Chronic diarrhea... OMIM:301220
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Increased serum pyruvate, Macrocytic anemia, Feeding difficulties in infancy, Splenomegaly, Hyper... OMIM:619046
Somatostatinoma
Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Intermittent jaundice, Episodic abdo... ORPHA:97283
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Intestinal obstruction, Fasciitis, Myositis, Pericarditis, Elevated circulating C-reactive protei... ORPHA:32960
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta... ORPHA:309854
Prolidase Deficiency
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Eczema, Splenomegaly... OMIM:170100
Grfoma
Anorexia, Poor appetite, Neoplasm of the thymus, Lack of bowel sounds, Zollinger-Ellison syndrome... ORPHA:97261
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Combined Oxidative Phosphorylation Deficiency 27
Microvesicular hepatic steatosis, Failure to thrive, Hyperammonemia, Feeding difficulties OMIM:616672
Myelofibrosis
Splenomegaly, Myeloproliferative disorder OMIM:254450
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Hepatomegaly, Anemia OMIM:620296
Primary Sjögren Syndrome
Normocytic anemia, Myositis, Chronic active hepatitis, Xerostomia, Leukopenia, Tubulointerstitial... ORPHA:289390
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Hepatocellular carcinoma, Cardiomegaly, In... ORPHA:465508
Typhoid
Gastrointestinal hemorrhage, Hepatomegaly, Skin rash, Abdominal pain, Splenomegaly, Diarrhea, Con... ORPHA:99745
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumulation, Decreased circulating antibo... OMIM:618042
Muckle-Wells Syndrome
Episcleritis, Hepatomegaly, Skin rash, Camptodactyly of finger, Abdominal pain, Splenomegaly, Uve... ORPHA:575
American Trypanosomiasis
Hepatomegaly, Skin rash, Aganglionic megacolon, Abnormal large intestine physiology, Abdominal pa... ORPHA:3386
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Small for gestational age, Splenomegaly, Micronodular cirrhosis, Thro... OMIM:606003
Nodular Non-Suppurative Panniculitis
Nausea and vomiting, Hepatomegaly, Abdominal pain, Splenomegaly, Weight loss, Panniculitis, Infla... ORPHA:33577
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Esophageal stricture, Pancolitis, Inflammation of the large intestine, B lymphocyto... OMIM:620133
Gaisböck Syndrome
Hypertriglyceridemia, Peptic ulcer, Overweight, Splenomegaly, Increased mean corpuscular hemoglob... ORPHA:90041
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Leukopenia, Tubulointerstitial nephritis, Vomiting, Hepa... ORPHA:470
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pericardial constriction, Ascites OMIM:253250
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... OMIM:233710
Congenital Rubella Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Jaundice, Anemia, Atrial septal defect, Th... ORPHA:290
Chronic Mucocutaneous Candidiasis
Skin rash, Abnormal dental enamel morphology, Feeding difficulties in infancy, Cheilitis, Hepatitis ORPHA:1334
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Flexion contracture, High pa... ORPHA:85212
Lysinuric Protein Intolerance
Hepatomegaly, Hypolysinemia, Nausea, Protein avoidance, Increased circulating ferritin concentrat... OMIM:222700
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... ORPHA:555874
Hyper-Igd Syndrome
Neutrophilia, Skin rash, Increased circulating IgA level, Abdominal pain, Splenomegaly, Lymphaden... OMIM:260920
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia OMIM:611490
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Pyloric stenosis, Jaundice, Aplasia/Hypoplasia of the pancreas, Ab... ORPHA:93111
Whipple Disease
Hyponatremia, Hepatomegaly, Gastrointestinal hemorrhage, Myositis, Pericarditis, Cachexia, Anorex... ORPHA:3452
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Iron deficiency anemia, Hepatosplenomegaly, Cardiomegaly ORPHA:99931
Chronic Granulomatous Disease
Hepatomegaly, Liver abscess, Sinusitis, Eczema, Abnormality of neutrophils, Malabsorption, Spleno... ORPHA:379
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Vomiting, Decreased liver function, Diffuse hepatic steatosis, Failure to thrive, A... ORPHA:436271
Sapho Syndrome
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Recurrent skin infections, Pustule, Neop... ORPHA:793
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... OMIM:233690
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Hepatic steatosis, Decreased liver function, Feeding difficulties OMIM:614922
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... OMIM:115197
Zollinger-Ellison Syndrome
Pituitary corticotropic cell adenoma, Multiple lipomas, Zollinger-Ellison syndrome, Pituitary pro... ORPHA:913
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Feeding difficulties, Bone marrow hypocellularity, Infection assoc... ORPHA:445038
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Pancytopenia, Osteomyelitis, Splenomegaly, Anemia, Elevated circulating alkaline ph... OMIM:259700
Congenital Disorder Of Glycosylation, Type Iiw
Microcytic anemia, Vomiting, Gastroesophageal reflux, Elevated gamma-glutamyltransferase level, H... OMIM:619525
Lujo Hemorrhagic Fever
Elevated hepatic transaminase, Maculopapular exanthema, Skin rash, Elevated circulating C-reactiv... ORPHA:319213
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Inguinal hernia, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymphangiectasi... OMIM:235255
Monosomy 13Q34
Hematochezia, Hepatic steatosis, Hypercalcemia, Obesity ORPHA:96168
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Feeding difficulties in infancy, Gastroesophageal reflux, Vomiting, Nausea, Eosinophilic infiltra... ORPHA:411696
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Iron deficiency anemia, Keratoconjun... ORPHA:309031
Biotinidase Deficiency
Hepatomegaly, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Feeding difficulties i... OMIM:253260
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Inflammatory abnormality of ... ORPHA:565612
Glucagonoma
Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Acanthocytosis, Intermittent jaundic... ORPHA:97280
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Hypertrophic cardiomyopathy, Ascites, Cardiomegaly OMIM:614702
Mitochondrial Trifunctional Protein Deficiency
Failure to thrive in infancy, Feeding difficulties in infancy, Cholestasis, Hypocalcemia, Left ve... ORPHA:746
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Left ventricular ... OMIM:300280
3-Methylglutaconic Aciduria, Type Viib
Recurrent pneumonia, Flexion contracture, Feeding difficulties, Leukopenia, Neutropenia, Hepatic ... OMIM:616271
Wiskott-Aldrich Syndrome
Iron deficiency anemia, Inflammation of the large intestine, Absent microvilli on the surface of ... OMIM:301000
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure, Thrombocytopenia OMIM:611126
Cimdag Syndrome
Hepatomegaly, Lipodystrophy, Microvesicular hepatic steatosis, Feeding difficulties, Cholelithiasis OMIM:619273
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Eleva... OMIM:256040
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... ORPHA:3092
Beta-Thalassemia Major
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... ORPHA:231214
Kaufman Oculocerebrofacial Syndrome
Intestinal malrotation, Feeding difficulties in infancy, High palate, Constipation, Hypocholester... OMIM:244450
Reynolds Syndrome
Calcinosis, Hepatomegaly, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Erythema no... OMIM:613471
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Small for gestational age, Limb j... ORPHA:404454
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Poor appetite, Splenomegaly, Diarrhea, Low alkaline phosphatase, Decreased serum zi... OMIM:201100
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Pancreatic fibrosis, Achilles tendon contracture, Hepatic fibrosis, Steatorrhea, Fa... OMIM:616263
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... OMIM:306955
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Increased circulating... OMIM:618213
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Atrial septal defect, Pancreatic fibrosis, Malformation of the hepatic ductal plate... OMIM:208540
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Hemolytic anemia, Pneumonia, Splenomegaly, Lymphadenopathy, Amelogenesis imperfecta... ORPHA:169090
Acute Liver Failure
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Skin rash, Jaundice, Diarrhea, Hepati... ORPHA:90062
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vomiting, Intrahepatic bile duct dil... OMIM:301068
Aredyld Syndrome
Hepatomegaly, Lipoatrophy, Abnormal dental enamel morphology, Cachexia, Splenomegaly, Refractory ... ORPHA:1133
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... OMIM:607626
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Inguinal hernia, Splenomegaly, Pancreatic lymphangiectasis, Abdominal distention, P... ORPHA:1655
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hepatomegaly, Hypercalcemia, Feeding difficulties in infancy, Splenomegaly, Constipat... OMIM:239200
Proteus-Like Syndrome
Splenomegaly, Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland ORPHA:2969
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Anorexia, Abdominal pain, Hypersplenism, Splenomegaly, Thrombocytopen... ORPHA:77259
Occipital Horn Syndrome
Inguinal hernia, Gastroparesis, Femoral hernia, Scarring, Hiatus hernia, High, narrow palate, Jau... ORPHA:198
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... OMIM:614162
Urachal Cyst
Abdominal mass, Abscess, Elevated circulating C-reactive protein concentration, Abdominal pain, L... ORPHA:488
Acute Disseminated Encephalomyelitis
Viral hepatitis, Herpes simplex encephalitis, Vomiting, Optic neuritis, Nausea, Myelitis ORPHA:83597
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Acute myeloid leukemia, Single lineage myelodysplasia... ORPHA:86839
Multiple Endocrine Neoplasia, Type I
Pancreatic islet cell adenoma, Hypercalcemia, Peptic ulcer, Diarrhea, Insulinoma, Pituitary adeno... OMIM:131100
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Hepatomegaly, Nausea and vomiting, Skin rash, Abdominal pain, Splenomegaly, Diarrhe... ORPHA:36412
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia ORPHA:90037
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Aortic valve stenosis, Thrombocy... OMIM:230800
Glycogen Storage Disease Ii
Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase... OMIM:232300
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Inguinal hernia, Splenomegaly, Diarrhea, Umbilical hernia OMIM:252900
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Methylmalonic acidemia, Hepatomegaly, Elevated hepatic transaminase, Abnormal circulating enzyme ... ORPHA:17
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... ORPHA:86843
Poikiloderma With Neutropenia
Skin rash, Elevated circulating creatine kinase concentration, Splenomegaly, Recurrent pneumonia,... OMIM:604173
Trichohepatoenteric Syndrome 1
Hepatomegaly, Failure to thrive, Villous atrophy, Small for gestational age, Increased mean plate... OMIM:222470
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:619051
Niemann-Pick Disease, Type C1
Hepatomegaly, Fatal liver failure in infancy, Fetal ascites, Bone-marrow foam cells, Low choleste... OMIM:257220
Oculoskeletodental Syndrome
Hepatomegaly, Small for gestational age, Hypercalcemia, Splenomegaly, Elbow flexion contracture, ... OMIM:618440
Macrocephaly/Autism Syndrome
Hepatomegaly, Large for gestational age, Splenomegaly, Obesity, Decreased circulating antibody le... OMIM:605309
Kikuchi-Fujimoto Disease
Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Anorexia, Leu... ORPHA:50918
Necrotizing Enterocolitis
Hyponatremia, Small for gestational age, Abdominal distention, Leukocytosis, Peritonitis, Diarrhe... ORPHA:391673
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Decreased response to growth hormone stimulation test, C... OMIM:602782
Dilated Cardiomyopathy With Ataxia
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hypochromic microcytic anemia, N... ORPHA:66634
Pseudo-Torch Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, High palate, Decreased liver... OMIM:251290
Chédiak-Higashi Syndrome
Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal natural killer cell morphology, Hypo... ORPHA:167
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Hepatomegaly, Hemolytic anemia, Myositis, Gastritis, Pericarditis, S... ORPHA:809
Iga Pemphigus
Neutrophilic infiltration of the skin, Eosinophilia, Monoclonal elevation of circulating IgA, Inc... ORPHA:555905
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypertyrosinemia, Elevated hepatic transaminase, Decreased mitochondrial complex III activity in ... OMIM:124000
Relapsing Polychondritis
Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Hepatitis, Uveitis, Scle... ORPHA:728
Plague
Glossitis, Hepatomegaly, Chapped lip, Skin rash, Anorexia, Abdominal pain, Hematemesis, Splenomeg... ORPHA:707
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... OMIM:306400
Kindler Epidermolysis Bullosa
Recurrent skin infections, Abnormal dental enamel morphology, Camptodactyly of finger, Esophageal... ORPHA:2908
Congenital Factor Xiii Deficiency
Myeloid leukemia, Hepatic failure, Inflammation of the large intestine ORPHA:331
Congenital Disorder Of Glycosylation, Type Iie
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:608779
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Cleft soft palate, Intestinal malrotation, Leukocytosis, Flexion contracture, Abdominal obesity, ... OMIM:619321
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Inflammation of the large intestine... ORPHA:906
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Macroorchidism, ... ORPHA:324410
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, E... ORPHA:731
Coronary Arterial Fistula
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... ORPHA:2041
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Myelodysplasia, Portal vein throm... ORPHA:729
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, High palate, Decreased liver function, Increased intramyocellular lipid droplets, I... OMIM:220110
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Overriding aorta, Hypoplasia of the thymus, Cardiomegaly OMIM:617022
Multiple Endocrine Neoplasia Type 4
Pituitary corticotropic cell adenoma, Angiofibromas, Zollinger-Ellison syndrome, Pituitary prolac... ORPHA:276152
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Anorexia, Splenomegaly, Mediastinal lymp... OMIM:181000
Aromatase Deficiency
Eunuchoid habitus, Enlarged polycystic ovaries, Hyperlipidemia, Obesity, Hepatic steatosis ORPHA:91
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Essential Thrombocythemia
Splenomegaly, Abnormal platelet morphology, Acute leukemia ORPHA:3318
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Erythema nodosum, Splenomegaly, Mediastinal lymphadenopathy, Bronchiectasis, Uveitis OMIM:612387
Cantu Syndrome
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly OMIM:239850
Timothy Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly OMIM:601005
Combined Oxidative Phosphorylation Deficiency 14
Copper accumulation in liver, Feeding difficulties, Anemia, Elevated hepatic iron concentration, ... OMIM:614946
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hepatomegaly, Hemolytic anemia, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperkalem... OMIM:608885
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Autoimmune thrombocy... ORPHA:77293
Sandhoff Disease
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly OMIM:268800
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... ORPHA:439
Cocaine Intoxication
Elevated circulating creatine kinase concentration, Glomerulonephritis, Abdominal pain, Intestina... ORPHA:90068
Multiple Myeloma
Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating creatinine con... ORPHA:29073
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Recurrent bacterial skin infections, Abn... OMIM:214500
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Failure to thrive, Inguinal hernia, Intermittent thrombocytopenia, Perianal abscess... OMIM:612541
Cirrhotic Cardiomyopathy
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Jaundice, Cirrhosis, Left ventricular hypert... ORPHA:57777
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Gastrointestinal hemorrhage, Abnormality of neutrophils, Anorexi... ORPHA:33226
Autoimmune Hemolytic Anemia, Warm Type
Splenomegaly, Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia ORPHA:90033
Acute Generalized Exanthematous Pustulosis
Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosino... ORPHA:293173
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Thrombocyto... OMIM:259720
Niemann-Pick Disease, Type C2
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Low cholesterol esterification rate, Splenom... OMIM:607625
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Cardiomegaly, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Ascites, Anemia OMIM:608013
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Microvesic... OMIM:203700
Kaposiform Lymphangiomatosis
Pancreatic cysts, Splenomegaly, Pericardial effusion, Abnormality of the lymphatic system, Hepato... ORPHA:464329
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... ORPHA:1457
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hematemesis, Esophageal varix,... OMIM:263200
Combined Oxidative Phosphorylation Deficiency 33
Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly OMIM:617713
Mogs-Cdg
Hepatomegaly, Atrial septal defect, Cardiomegaly, Hepatosplenomegaly, Hydrocele testis, Left vent... ORPHA:79330
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated hemoglobin A1c, Flexi... OMIM:619127
Gaucher Disease, Type Ii
Hepatomegaly, Splenomegaly, Feeding difficulties, Anemia, Gastroesophageal reflux, Protuberant ab... OMIM:230900
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p... ORPHA:3427
Hermansky-Pudlak Syndrome 2
Hepatomegaly, Absent platelet dense granules, Chronic oral candidiasis, Splenomegaly, Recurrent p... OMIM:608233
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia, Abnormal number of alpha granules OMIM:139090
Refsum Disease, Classic
Cardiomyopathy, Cardiomegaly OMIM:266500
Congenital Erythropoietic Porphyria
Anisocytosis, Increased stool urobilinogen concentration, Abnormal circulating porphyrin concentr... ORPHA:79277
Pachydermoperiostosis
Gastrointestinal hemorrhage, Hepatomegaly, Osteomyelitis, Acne, Peptic ulcer, Seborrheic dermatit... ORPHA:2796
Porphyria, Congenital Erythropoietic
Hepatomegaly, Hemolytic anemia, Splenomegaly, Jaundice, Increased fecal coproporphyrin 1, Corneal... OMIM:263700
Yellow Fever
Increased circulating interleukin 6 concentration, Acute pancreatitis, Neutrophilia, Elevated cir... ORPHA:99829
Digeorge Syndrome
High, narrow palate, Abnormal thymus morphology, Hypoplasia of the thymus, Hypocalcemia, Gastroes... OMIM:188400
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated hepatic transaminase, Increased circulating lactate dehydrogenase concentr... ORPHA:94093
Crimean-Congo Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Anorexia, Increased circulating IgG level, Le... ORPHA:99827
Chronic Thromboembolic Pulmonary Hypertension
Osteomyelitis, Elevated circulating C-reactive protein concentration, Obesity, Inflammation of th... ORPHA:70591
Leukocyte Adhesion Deficiency, Type I
Osteomyelitis, Elevated circulating C-reactive protein concentration, Leukocytosis, Chronic diarr... OMIM:116920
Familial Mediterranean Fever
Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Pericarditis, Skin rash, Abdo... ORPHA:342
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Splenomegaly, Recurrent pneumonia, Anemia, Decreased circulating total IgM, Decreas... OMIM:612301
Hermansky-Pudlak Syndrome 1
Hematochezia, Inflammation of the large intestine, Colitis, Abdominal pain OMIM:203300
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Bronchiectasis, Knee flexion contracture, Inflammation of the large intestine, Rectovaginal fistu... OMIM:619708
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Ascites, Ventricular septal defect, Cardiomegaly OMIM:616897
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hepatomegaly, Hip contracture, Seborrheic dermatitis, Large for gestational age, Microvesicular h... OMIM:300868
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Intellectual Developmental Disorder, Autosomal Dominant 68
Feeding difficulties, Gastroesophageal reflux, Constipation, High palate, Joint contracture of th... OMIM:619934
Arterial Calcification, Generalized, Of Infancy, 2
Right atrial enlargement, Cardiomegaly OMIM:614473
Arima Syndrome
Hepatomegaly, Esophageal varix, Hepatic fibrosis, Cirrhosis, Hepatic steatosis, Anemia OMIM:243910
Atypical Werner Syndrome
Renal neoplasm, Hypertriglyceridemia, Lipoatrophy, Neoplasm of the small intestine, Ovarian neopl... ORPHA:79474
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Failure to thrive, Splenomegaly, Jaundice... OMIM:615512
Truncus Arteriosus
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... ORPHA:3384
Fucosidosis
Hepatomegaly, Abnormality of the gallbladder, Cardiomegaly ORPHA:349
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Thrombocytopenia OMIM:153670
Spondyloarthropathy, Susceptibility To, 1
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... OMIM:106300
Complete Atrioventricular Septal Defect
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... ORPHA:1329
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Cardiomyopathy... OMIM:616084
Ectodermal Dysplasia And Immunodeficiency 2
Hepatomegaly, Splenomegaly, Defective production of NFKB1-dependent cytokines, Chronic diarrhea, ... OMIM:612132
Gaucher Disease Type 3
Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Pericard... ORPHA:77261
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Reactive Arthritis
Pericarditis, Osteomyelitis, Abdominal pain, Pustule, Diarrhea, Enthesitis, Weight loss, Arthriti... ORPHA:29207
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... ORPHA:363705
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
High, narrow palate, Vomiting, High palate, Otitis media, Hepatic steatosis, Abdominal pain, Over... OMIM:619475
Beckwith-Wiedemann Syndrome
Congenital diaphragmatic hernia, Cardiomegaly, Large for gestational age, Feeding difficulties in... ORPHA:116
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Ogden Syndrome
Cardiomegaly, Microvesicular hepatic steatosis, Iron deficiency anemia, Vomiting, Macrovesicular ... OMIM:300855
Turner Syndrome Due To Structural X Chromosome Anomalies
Elevated hepatic transaminase, Atypical scarring of skin, Failure to thrive in infancy, Celiac di... ORPHA:99413
Mosaic Monosomy X
Elevated hepatic transaminase, Atypical scarring of skin, Failure to thrive in infancy, Celiac di... ORPHA:99228
Monosomy X
Elevated hepatic transaminase, Atypical scarring of skin, Failure to thrive in infancy, Celiac di... ORPHA:99226
Turner Syndrome
Elevated hepatic transaminase, Atypical scarring of skin, Failure to thrive in infancy, Celiac di... ORPHA:881
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Increased hepatic glycogen content, Cardiomegaly OMIM:619259
Danon Disease
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... OMIM:300257
Fucosidosis
Splenomegaly, Hepatomegaly, Vacuolated lymphocytes, Cardiomegaly OMIM:230000
Familial Tumoral Calcinosis
Splenomegaly, Hepatomegaly, Skin rash, Neoplasm of the skin ORPHA:53715
1P36 Deletion Syndrome
Camptodactyly of finger, Feeding difficulties in infancy, Abnormality of the spleen, Pyloric sten... ORPHA:1606
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Fetal ascites, Flexion contracture, Knee flexion contracture, High palate, Hypocalcemia, Chronic ... OMIM:619503
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hepatomegaly, Aganglionic megacolon, Abdominal pain, Splenomegaly, Ileus, Constipation, Arthrogry... ORPHA:163746
Alström Syndrome
Hepatic fibrosis, Gastroesophageal reflux, Otitis media, Elevated gamma-glutamyltransferase level... ORPHA:64
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... OMIM:601214
Hereditary Orotic Aciduria
Splenomegaly, Anemia ORPHA:30
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:308552
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Cardiomegaly OMIM:105210
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... OMIM:261740
Cantú Syndrome
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Inguinal hernia, Small for gestational age, Microvesicular hepatic steatosis, Hyperammonemia, Fee... OMIM:220111
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Cardiomegaly, Right atrial enlargement, Abnormality of the hepatic vasculature, Atr... ORPHA:1677
Mucopolysaccharidosis Type 3
Hepatomegaly, Cardiomegaly, Adenoiditis, Splenomegaly, Recurrent tonsillitis, Abnormal aortic val... ORPHA:581
Developmental And Epileptic Encephalopathy 95
Cryptorchidism, Hepatomegaly, Cardiomegaly OMIM:618143
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Abnormal thymus morphology, Cardiomegaly ORPHA:2463
Hepatoerythropoietic Porphyria
Hemolytic anemia, Recurrent bacterial skin infections, Abnormal circulating enzyme concentration ... ORPHA:95159
Lethal Acantholytic Erosive Disorder
Cardiomyopathy, Cardiomegaly ORPHA:158687
Frontometaphyseal Dysplasia 2
Hip contracture, Elbow contracture, Feeding difficulties in infancy, Pyloric stenosis, Ulcerative... OMIM:617137
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Cardiomegaly OMIM:208000
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Atrial septal defect, Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Left ventricula... OMIM:245600
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Hypoalbuminemia, Hepatic fibrosis, Gastroesophageal reflux, Elevat... OMIM:619534
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Recurrent skin infections, Slender bui... ORPHA:3455
Tropical Endomyocardial Fibrosis
Hepatomegaly, Right ventricular cardiomyopathy, Eosinophilia, Left atrial enlargement, Cardiomega... ORPHA:75565
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Right ventricular hypertrophy, Cardiomegaly ORPHA:268
Neurodegeneration And Seizures Due To Copper Transport Defect
Cardiomegaly OMIM:620306
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Enlarged kidney OMIM:252500
Blau Syndrome
Clear cell renal cell carcinoma, Pericarditis, Skin rash, Camptodactyly of finger, Keratitis, Spl... ORPHA:90340
Absence Of The Pulmonary Artery
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... ORPHA:980
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch... OMIM:300967
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Hepatic steatosis ORPHA:391665
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Cardiomyopathy, Hepatoblastom... OMIM:130650
Paternal Uniparental Disomy Of Chromosome 6
Cryptorchidism, Hepatomegaly, Ventricular septal defect, Cardiomegaly ORPHA:96191
Johanson-Blizzard Syndrome
Conjugated hyperbilirubinemia, Anteriorly placed anus, Hepatic fibrosis, Hypocalcemia, Elevated g... OMIM:243800
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... ORPHA:95430
Bohring-Opitz Syndrome
Cholelithiasis, Annular pancreas, Abnormal cardiac septum morphology, Cardiomegaly ORPHA:97297
Aicardi-Goutières Syndrome
Neonatal alloimmune thrombocytopenia, Cardiomegaly, Hepatosplenomegaly, Chronic lymphatic leukemi... ORPHA:51
Histiocytoid Cardiomyopathy
Hepatomegaly, Polycystic ovaries, Ventricular septal defect, Cardiomegaly ORPHA:137675
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... ORPHA:99125
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Glycogen Storage Disease Due To Acid Maltase Deficiency
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:365
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Mowat-Wilson Syndrome
Dependency on intravenous nutrition, Aganglionic megacolon, Bowel incontinence, Asplenia, Pyloric... ORPHA:2152
Proteus Syndrome
Thymus hyperplasia, Testicular neoplasm, Neoplasm of the thymus, Splenomegaly, Enlarged polycysti... ORPHA:744
Yunis-Varon Syndrome
Ventricular septal defect, Cardiomegaly, Cryptorchidism, Cardiomyopathy, Atrial septal defect, Te... ORPHA:3472
Williams Syndrome
Abnormal endocardium morphology, Overriding aorta, Bicuspid aortic valve, Ventricular septal defe... ORPHA:904
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Cardiomegaly, Pericardial effusion, Hepatic calcification, Myocardial ca... ORPHA:51608
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis... 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
Fhip2bem1(IMPC)Ccpcz Exon Deletion Mice, Tissue
Fhip2btm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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