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Gene: Neurl4 MGI:1921092

Gene Summary

Name:

neuralized E3 ubiquitin protein ligase 4

Synonyms:

0610025P10Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
enlarged gallbladder	Neurl4^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal eye morphology	Neurl4^em1(IMPC)Mbp	HOM	Late adult	0.00
eye hemorrhage	Neurl4^em1(IMPC)Mbp	HOM	Late adult	5.37×10^-06
abnormal spleen morphology	Neurl4^em1(IMPC)Mbp	HOM	Late adult	0.00
increased grip strength	Neurl4^em1(IMPC)Mbp	HOM	Late adult	2.30×10^-06
decreased prepulse inhibition	Neurl4^em1(IMPC)Mbp	HOM	Early adult	1.44×10^-06
abnormal skin morphology	Neurl4^em1(IMPC)Mbp	HOM	Late adult	0.00
small kidney	Neurl4^em1(IMPC)Mbp	HOM	Late adult	0.00
decreased neutrophil cell number	Neurl4^em1(IMPC)Mbp	HOM	Early adult	5.23×10^-05
increased grip strength	Neurl4^em1(IMPC)Mbp	HOM	Middle aged adult	4.89×10^-07
abnormal kidney morphology	Neurl4^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged spleen	Neurl4^em1(IMPC)Mbp	HOM	Late adult	0.00
absent seminal vesicle	Neurl4^em1(IMPC)Mbp	HOM	Late adult	0.00
decreased leukocyte cell number	Neurl4^em1(IMPC)Mbp	HOM	Late adult	2.43×10^-05
abnormal liver morphology	Neurl4^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal gallbladder morphology	Neurl4^em1(IMPC)Mbp	HOM	Late adult	0.00
decreased total body fat amount	Neurl4^em1(IMPC)Mbp	HOM	Early adult	1.42×10^-06
increased lean body mass	Neurl4^em1(IMPC)Mbp	HOM	Early adult	1.27×10^-06
small spleen	Neurl4^em1(IMPC)Mbp	HOM	Late adult	0.00
decreased heart weight	Neurl4^em1(IMPC)Mbp	HOM	Late adult	2.55×10^-05

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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 Whole Body Lateral Orientation

34 Images

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X-ray

XRay Images Whole Body Dorso Ventral

32 Images

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X-ray

XRay Images Whole Body Dorso Ventral

70 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Neurl4 mutations

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

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

Human diseases associated with Neurl4 (0 diseases)
Human diseases predicted to be associated with Neurl4 (715 diseases)

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

The table below shows human diseases predicted to be associated to Neurl4 by phenotypic similarity.

Disease	Matching phenotypes	Source
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia	OMIM:618310
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice	OMIM:224100
Immune Thrombocytopenia	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Hemorrhage of...	ORPHA:3002
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Beta-Thalassemia	Cholelithiasis, Hepatitis, Microcytic anemia, Hypertrophic cardiomyopathy, Abnormal hemoglobin, S...	ORPHA:848
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Failure to thrive, Neutropenia	OMIM:616022
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thromboc...	OMIM:615285
Cyclic Neutropenia	Cyclic neutropenia	OMIM:162800
Kaposiform Lymphangiomatosis	Epidural hemorrhage, Epistaxis, Abnormal bleeding, Bruising susceptibility, Hepatosplenomegaly, L...	ORPHA:464329
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Cholecystitis, Splenomegaly, No...	OMIM:613470
Immunodeficiency 50	Lymphopenia, Neutropenia	OMIM:300988
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Renal insufficiency, Sp...	OMIM:603903
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Reticulocytosis, Nonspherocytic h...	OMIM:235700
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ...	OMIM:202700
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, High-output conges...	ORPHA:231222
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Congestive heart failure, Microcytic anemia, Hemogl...	ORPHA:846
Whim Syndrome 2	Chronic neutropenia	OMIM:619407
Cholestasis, Progressive Familial Intrahepatic, 1	Epistaxis, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundi...	OMIM:211600
Gallbladder Disease 1	Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal...	OMIM:600803
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Splenomegaly, Reti...	OMIM:266200
Protoporphyria, Erythropoietic, X-Linked	Cholelithiasis, Iron deficiency anemia, Elevated circulating hepatic transaminase concentration	OMIM:300752
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia	OMIM:620534
Trimethylaminuria	Anemia, Splenomegaly, Neutropenia	OMIM:602079
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit...	ORPHA:53035
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Neutrophilia	OMIM:617585
Gaucher Disease Type 1	Gingival bleeding, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Hematuria, Cirrhosis, Hepatom...	ORPHA:77259
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Hyperbiliverdinemia	Cholestasis, Cholelithiasis, Green urine, Decreased liver function	OMIM:614156
Spherocytosis, Type 1	Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:182900
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Splenomegaly, Ret...	OMIM:194380
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Neutropenia	ORPHA:90023
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, 3-Methylglutaconic aciduria	OMIM:619813
Benign Recurrent Intrahepatic Cholestasis	Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio...	ORPHA:65682
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Splenomegaly, Hepatomegaly, Lymphocytosis, Neutropenia, Monocytosis, Leukemia, Auto...	OMIM:614470
Neutropenia, Chronic Familial	Neutropenia	OMIM:162700
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam...	ORPHA:69663
Crimean-Congo Hemorrhagic Fever	Gingival bleeding, Pancytopenia, Hematuria, Neutrophilia, Hepatomegaly, Tachycardia, Jaundice, Pu...	ORPHA:99827
Biliary Atresia, Extrahepatic	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Atretic gallbladder, Ci...	OMIM:210500
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Cholestasis, Stage ...	OMIM:616217
Congenital Bile Acid Synthesis Defect Type 1	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Abnormal bl...	ORPHA:79301
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro...	ORPHA:75564
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropenia, Anemia, Jaundice	OMIM:603552
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Enamel hypomineralization, Iron deficiency anemia, Neutropenia, Thrombocytopenia, Increased mean ...	ORPHA:494444
Hypereosinophilic Syndrome, Idiopathic	Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly, Eosinophilia, Hepatomegaly, Myelo...	OMIM:607685
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog...	ORPHA:3202
Gcgr-Related Hyperglucagonemia	Cholelithiasis, Neoplasm of the pancreas, Abnormal biliary tract morphology	ORPHA:438274
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Autosomal Erythropoietic Protoporphyria	Microcytic anemia, Cholelithiasis, Cirrhosis, Decreased liver function	ORPHA:79278
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Agammaglobulinemia 3, Autosomal Recessive	Absent circulating B cells, Failure to thrive, Neutropenia, Abnormal T cell morphology	OMIM:613501
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia	OMIM:619523
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Restrictive cardiomyopathy, Increased mean corpuscu...	ORPHA:822
Sickle Cell Anemia	Splenic infarction, Cholelithiasis, Hypochromic anemia, Pigment gallstones, Increased mean corpus...	ORPHA:232
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro...	OMIM:619041
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism	OMIM:183350
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Fanconi Anemia, Complementation Group G	Leukemia, Anemia, Neutropenia, Thrombocytopenia	OMIM:614082
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Asci...	OMIM:617394
Cholestasis, Benign Recurrent Intrahepatic, 2	Hepatomegaly, Intrahepatic cholestasis, Cholelithiasis, Jaundice	OMIM:605479
Gallbladder Disease 4	Cholelithiasis	OMIM:611465
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal bleeding, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia	ORPHA:231393
Protoporphyria, Erythropoietic, 1	Cholelithiasis, Hemolytic anemia, Hepatic failure	OMIM:177000
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Neutropenia, Abnormal T cell morphology	OMIM:615214
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Neutropenia	OMIM:610798
Immunodeficiency 46	Anemia, Failure to thrive, Neutropenia, Intermittent thrombocytopenia	OMIM:616740
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Congenital Alveolar Capillary Dysplasia	Aortic valve stenosis, Hypoplastic left heart, Annular pancreas, Tetralogy of Fallot, Atrioventri...	ORPHA:210122
Isolated Biliary Atresia	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Decreased liver fun...	ORPHA:30391
Hemochromatosis, Type 2B	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Conges...	OMIM:613313
Gray Platelet Syndrome	Epistaxis, Abnormal bleeding, Bruising susceptibility, Splenomegaly, Thrombocytopenia	ORPHA:721
Hemochromatosis, Type 3	Elevated circulating hepatic transaminase concentration, Lymphopenia, Cirrhosis, Neutropenia, Anemia	OMIM:604250
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Protein...	OMIM:620010
Immunodeficiency 104	Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy	OMIM:608971
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Specific Granule Deficiency 1	Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,...	OMIM:245480
Folate Malabsorption, Hereditary	Failure to thrive, Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:229050
Myotonic Dystrophy 1	Cholelithiasis, Atrial flutter, Hypogonadism, First degree atrioventricular block, Testicular atr...	OMIM:160900
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th...	ORPHA:444463
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen...	OMIM:133180
Tyrosinemia Type 1	Generalized aminoaciduria, Acute hepatic failure, Splenomegaly, Hepatomegaly, Hepatocellular carc...	ORPHA:882
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt...	OMIM:614172
Sialuria	Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Prol...	ORPHA:3166
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Refractory Anemia	Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Erythroid hypoplasia, Neut...	ORPHA:98826
Glycogen Storage Disease Xii	Normocytic anemia, Cholelithiasis, Cholecystitis, Splenomegaly, Hepatomegaly, Decreased erythrocy...	OMIM:611881
Glycogen Storage Disease Vii	Cholelithiasis, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Exercise-induced myoglo...	OMIM:232800
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Restrictive cardiomyopathy, Endocardial fibroelastosis, Hypopl...	OMIM:619313
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc...	ORPHA:567983
Glutathione Synthetase Deficiency	Hemolytic anemia, Neutropenia	OMIM:266130
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Lujo Hemorrhagic Fever	Hypotension, Oliguria, Elevated circulating hepatic transaminase concentration, Shock, Lymphopeni...	ORPHA:319213
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a...	OMIM:159550
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Elevated circulating hepatic tran...	OMIM:602347
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Neonatal cholestatic liver diseas...	ORPHA:1414
Thrombocytopenia 5	Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,...	OMIM:616216
Sea-Blue Histiocyte Disease	Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega...	OMIM:269600
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Pontocerebellar Hypoplasia, Type 15	Anemia, Chronic neutropenia, Thrombocytopenia	OMIM:619302
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega...	OMIM:237800
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Immunodeficiency 7	Failure to thrive, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia, Hep...	OMIM:615387
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive	Purpura, Vitreous hemorrhage, Pulmonary embolism	OMIM:612304
Pancreatic Colipase Deficiency	Exocrine pancreatic insufficiency, Cholelithiasis, Megaloblastic anemia	ORPHA:309108
Amyloidosis, Hereditary Systemic 2	Nephropathy, Cholestasis, Splenomegaly, Proteinuria, Hematuria, Hepatomegaly, Nephrotic syndrome,...	OMIM:105200
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat...	OMIM:603902
Galactose Epimerase Deficiency	Aminoaciduria, Hepatomegaly, Jaundice, Splenomegaly	ORPHA:79238
Congenital Bile Acid Synthesis Defect Type 4	Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Hematochezia, Elevated circulati...	ORPHA:79095
Mirizzi Syndrome	Cholelithiasis, Elevated circulating hepatic transaminase concentration, Dark urine, Tachycardia,...	ORPHA:521219
Galactosemia Iii	Aminoaciduria, Galactosuria, Splenomegaly, Hepatomegaly, Jaundice	OMIM:230350
Triosephosphate Isomerase Deficiency	Normocytic anemia, Cholelithiasis, Congestive heart failure, Cholecystitis, Macrocytic anemia, Sp...	OMIM:615512
Coproporphyria, Hereditary	Elevated urinary coproporphyrin level, Increased urinary porphobilinogen, Splenomegaly, Jaundice,...	OMIM:121300
Hereditary Elliptocytosis	Cholelithiasis, Stomatocytosis, Abnormal erythrocyte morphology, Congenital hemolytic anemia, Ret...	ORPHA:288
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Cholelithiasis, Hypertrophic cardiomyopathy, Ventricular septal defect, Persistent fetal circulat...	OMIM:618775
Lymphoproliferative Syndrome, X-Linked, 1	Abnormal T cell count, Hepatic failure, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal...	OMIM:308240
Primary Sclerosing Cholangitis	Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho...	ORPHA:171
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hematochezia, Hepatic failure, Hepatitis, El...	OMIM:613812
Hemochromatosis, Type 2A	Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Azoospermia, Splenomegaly, Hypo...	OMIM:602390
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Failure to thrive, Splenomegaly, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia	ORPHA:79312
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Exocrine pancreatic insufficiency, Elevated circulating hepatic transaminase concentration, Neutr...	OMIM:618752
Hemorrhagic Fever-Renal Syndrome	Chronic kidney disease, Hematuria, Glomerulonephritis, Tubulointerstitial nephritis, Tachycardia,...	ORPHA:340
Sandhoff Disease	Hepatomegaly, Splenomegaly, Congestive heart failure	ORPHA:796
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Lymphopenia, Excessive bleeding after a venipuncture, Jaun...	ORPHA:99826
Neonatal Severe Primary Hyperparathyroidism	Aminoaciduria, Hepatomegaly, Splenomegaly	ORPHA:417
Mu-Heavy Chain Disease	Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Anemia, Lymphadenopath...	ORPHA:100024
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
Combined Oxidative Phosphorylation Deficiency 59	Cholelithiasis, Congestive heart failure, Hypertrophic cardiomyopathy, Dicarboxylic aciduria, Sev...	OMIM:620646
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor...	OMIM:617514
Peroxisome Biogenesis Disorder 12A (Zellweger)	Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Abnorma...	OMIM:614886
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Spl...	OMIM:614480
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Melena, Hypertrophic card...	ORPHA:464321
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Neutropenia	OMIM:610738
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Reduced natural killer cell count, Hepatic failure, Elevated circulating hepatic transaminase con...	ORPHA:158057
Slc35A1-Cdg	Cellulitis, Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia	ORPHA:238459
Amegakaryocytic Thrombocytopenia, Congenital, 2	Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia	OMIM:620481
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Neutropenia, B lymphocytopenia, Intermittent throm...	OMIM:150550
Polycythemia Vera	Gastrointestinal hemorrhage, Budd-Chiari syndrome, Increased hematocrit, Cerebral hemorrhage, Cer...	OMIM:263300
Renal-Hepatic-Pancreatic Dysplasia 1	Aortic valve stenosis, Cholestasis, Cirrhosis, Atrial septal defect, Hepatomegaly, Polycystic kid...	OMIM:208540
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Cellulitis, Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly...	OMIM:618986
Retinal Capillary Malformation	Vitreous hemorrhage, Hyphema	ORPHA:71213
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Epistaxis, Elevated circulating hepatic transaminase c...	OMIM:619463
Thrombocytopenia With Beta-Thalassemia, X-Linked	Epistaxis, Increased RBC distribution width, Bruising susceptibility, Reduced platelet alpha gran...	OMIM:314050
Fetal Cytomegalovirus Syndrome	Elevated circulating hepatic transaminase concentration, Hepatitis, Retinal hemorrhage, Splenomeg...	ORPHA:294
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra...	OMIM:619658
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia	OMIM:616738
Babesiosis	Hepatic failure, Congestive heart failure, Leukopenia, Renal insufficiency, Splenomegaly, Thrombo...	ORPHA:108
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Leukocyte Adhesion Deficiency, Type Iii	Epistaxis, Abnormal bleeding, Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepat...	OMIM:612840
Immunodeficiency 69	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A...	OMIM:618963
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hepatomegaly, Fetal ascites, Splenomegaly	OMIM:619462
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia	ORPHA:289916
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Nephrocalcinosis, Male hypogonadism, Cholelithiasis, Chronic active hepatitis, Hypoparathyroidism...	OMIM:240300
Griscelli Syndrome Type 2	Hemophagocytosis, Pancytopenia, Splenomegaly, Neutropenia, Hepatomegaly, Jaundice	ORPHA:79477
Immunodeficiency 76	Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia	OMIM:619164
Cholestasis, Progressive Familial Intrahepatic, 10	Portal fibrosis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Ele...	OMIM:619868
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Failure to thrive, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly,...	ORPHA:169154
Congenital Disorder Of Glycosylation, Type Ik	Hypogonadism, Hepatomegaly, Splenomegaly, Cardiomyopathy	OMIM:608540
Diamond-Blackfan Anemia 8	Neutropenia, Increased mean corpuscular volume, Macrocytic anemia	OMIM:612563
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta...	OMIM:619849
Generalized Pseudohypoaldosteronism Type 1	Hypovolemic shock, Cholelithiasis, Recurrent tonsillitis, Arrhythmia	ORPHA:171876
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly	OMIM:618852
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Abnormal liver parenchyma morphology, Abnormality of the pancreas, ...	ORPHA:3032
Pentalogy Of Cantrell	Polysplenia, Tetralogy of Fallot, Abnormal pericardium morphology, Absent gallbladder, Ventricula...	ORPHA:1335
Agammaglobulinemia 4, Autosomal Recessive	Neutropenia, Abnormal T cell morphology	OMIM:613502
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Aggressive Systemic Mastocytosis	Decreased liver function, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increase...	ORPHA:98850
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Vasculitis, Hematochezia, Cervical lymphadenopathy, Lymphocytosis...	OMIM:617718
Specific Granule Deficiency 2	Failure to thrive, Absent neutrophil specific granules, Amelogenesis imperfecta, Thrombocytopenia...	OMIM:617475
Wolman Disease	Hepatomegaly, Splenomegaly, Acute hepatic failure	OMIM:620151
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Hepatic failure, Portal fibrosis, Elevated circulating hepatic transaminase con...	OMIM:616278
Meckel Syndrome, Type 6	Hepatic fibrosis, Horseshoe kidney, Absent gallbladder, Hepatic cysts, Renal cyst, Abnormal inter...	OMIM:612284
Pelger-Huet Anomaly	Giant platelets, Failure to thrive, Umbilical hernia, Hyposegmentation of neutrophil nuclei, Neut...	OMIM:169400
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Hepatoportal Sclerosis	Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of the hepatic vascul...	ORPHA:64743
Retinopathy Of Prematurity	Vitreous hemorrhage	ORPHA:90050
Progressive Familial Intrahepatic Cholestasis	Cholestasis, Hepatomegaly, Jaundice, Splenomegaly	ORPHA:172
Martinez-Frias Syndrome	Annular pancreas, Pancreatic hypoplasia, Hypoplasia of the gallbladder, Extrahepatic biliary duct...	OMIM:601346
Distal Duplication 5Q	Cryptorchidism, Ventricular septal defect, Aplasia/Hypoplasia of the gallbladder, Dextrocardia, H...	ORPHA:96097
Neonatal Lupus Erythematosus	Hepatic failure, Elevated circulating hepatic transaminase concentration, Aplastic anemia, Pancyt...	ORPHA:398124
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran...	OMIM:615513
Immunodeficiency 48	Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, ...	OMIM:269840
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Macrocytic anemia	OMIM:612527
Leptospirosis	Acute kidney injury, Hypotension, Subconjunctival hemorrhage, Hepatitis, Pulmonary hemorrhage, Re...	ORPHA:509
Stormorken Syndrome	Howell-Jolly bodies, Epistaxis, Abnormal bleeding, Bruising susceptibility, Hematuria, Subarachno...	OMIM:185070
Autoimmune Lymphoproliferative Syndrome, Type Iia	Nephritis, Gastrointestinal hemorrhage, Vasculitis, Chronic noninfectious lymphadenopathy, Follic...	OMIM:603909
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati...	OMIM:616828
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly, Bone-marrow foam cells	OMIM:607616
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Neutropenia, Megaloblastic anemia, Thrombocytopenia	OMIM:598500
Adult Idiopathic Neutropenia	Monocytopenia, Lymphopenia, Neutropenia, Monocytosis	ORPHA:2688
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Absent circulating B cells	OMIM:619707
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertension, Splen...	OMIM:617068
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Immunodeficiency With Hyper-Igm, Type 3	Neutropenia	OMIM:606843
Immunodeficiency 102	Nodular regenerative hyperplasia of liver, Reduced natural killer cell count, Increased proportio...	OMIM:301082
Caroli Syndrome	Hypersplenism, Congenital hepatic fibrosis, Cirrhosis, Abnormal ductus choledochus morphology, He...	ORPHA:480520
Infantile Sialic Acid Storage Disease	Congestive heart failure, Ascites, Splenomegaly, Cardiomegaly, Vacuolated lymphocytes, Hepatomega...	OMIM:269920
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos...	OMIM:615631
Mirage Syndrome	Microphallus, Decreased testicular size, Lymphopenia, Leukopenia, Cryptorchidism, Petechiae, Hypo...	OMIM:617053
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Ascites, Abnormality of the ureter, Splenomegaly, Anemia, Hypoplasia of penis, Hypospadias	ORPHA:1046
8P Inverted Duplication/Deletion Syndrome	Precocious puberty, Abnormal heart morphology, Tetralogy of Fallot, Cryptorchidism, Hydronephrosi...	ORPHA:96092
Cholestasis-Lymphedema Syndrome	Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple...	OMIM:214900
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly	OMIM:610539
Meckel Syndrome, Type 7	Aortic valve stenosis, Multicystic kidney dysplasia, Biliary cirrhosis, Cholestasis, Hepatospleno...	OMIM:267010
Primary Myelofibrosis	Abnormal bleeding, Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, ...	ORPHA:824
Immunodeficiency 67	Abnormal T cell count, Transient neutropenia, Abnormal B cell count, Abnormal natural killer cell...	OMIM:607676
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Hemochromatosis, Type 1	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Congestive heart failure...	OMIM:235200
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:66661
Autosomal Dominant Severe Congenital Neutropenia	Cellulitis, Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Mono...	ORPHA:486
Whim Syndrome 1	Neutropenia	OMIM:193670
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:86893
Immunodeficiency 42	Hepatomegaly, Hypoplasia of the thymus, Splenomegaly	OMIM:616622
Adams-Oliver Syndrome 6	Hepatic fibrosis, Renal hypoplasia, Tricuspid regurgitation, Portal hypertension, Splenomegaly, V...	OMIM:616589
Immunodeficiency 98 With Autoinflammation, X-Linked	Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, ...	OMIM:301078
Microcephalic Primordial Dwarfism, Toriello Type	Enamel hypoplasia, Neutropenia	ORPHA:2643
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Erythroid hyperplasi...	OMIM:616860
Spinocerebellar Ataxia, Autosomal Recessive 23	Neutropenia	OMIM:616949
Alpha-Heavy Chain Disease	Ascites, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly	ORPHA:100025
Sea-Blue Histiocytosis	Abnormal bleeding, Sea-blue histiocytosis, Splenomegaly, Petechiae, Thrombocytopenia, Hepatomegal...	ORPHA:158029
Splenoportal Vascular Anomalies	Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system	OMIM:271500
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Failure to thrive, Hepatitis, Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-posit...	OMIM:304790
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Bruising susceptibility, Leukocytosis, Splenomegaly,...	ORPHA:3226
Macrophage Activation Syndrome	Hemophagocytosis, Hepatitis, Decreased liver function, Elevated circulating aspartate aminotransf...	ORPHA:158061
Congenital Bile Acid Synthesis Defect Type 3	Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa...	ORPHA:79302
Congenital Pulmonary Lymphangiectasia	Congestive heart failure, Tricuspid regurgitation, Ascites, Splenomegaly, Pulmonary arterial hype...	ORPHA:2414
Ciliary Dyskinesia, Primary, 53	Abdominal situs inversus, Polysplenia, Situs inversus totalis, Patent foramen ovale, Cardiomegaly...	OMIM:620642
Essential Thrombocythemia	Acute leukemia, Abnormal bleeding, Bruising susceptibility, Transient ischemic attack, Leukocytos...	ORPHA:3318
Autoimmune Lymphoproliferative Syndrome	Vasculitis, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Autoimmune hemolytic a...	OMIM:601859
Immunodeficiency By Defective Expression Of Mhc Class Ii	Abnormal CD4:CD8 ratio, Failure to thrive, Pancytopenia, Decreased proportion of CD4-positive hel...	ORPHA:572
Gaucher Disease	Gingival bleeding, Aortic valve calcification, Pancytopenia, Hematuria, Cirrhosis, Hepatomegaly, ...	ORPHA:355
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, Decreased proportio...	OMIM:300853
Ppoma	Intrahepatic cholestasis, Cholelithiasis, Gastrointestinal hemorrhage, Pituitary adenoma, Abnorma...	ORPHA:97278
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an...	OMIM:619375
Leishmaniasis	Elevated circulating hepatic transaminase concentration, Abnormal bleeding, Leukopenia, Pancytope...	ORPHA:507
Gaucher Disease Type 2	Hepatomegaly, Cardiac arrest, Splenomegaly	ORPHA:77260
Porphyria, Congenital Erythropoietic	Cholelithiasis, Reduced erythrocyte uroporphyrinogen III cosynthase activity, Splenomegaly, Red u...	OMIM:263700
Grfoma	Intrahepatic cholestasis, Cholelithiasis, Gastrointestinal hemorrhage, Pituitary adenoma, Abnorma...	ORPHA:97261
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancytopenia, Ret...	ORPHA:35858
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil ...	OMIM:619220
Hurler-Scheie Syndrome	Cardiomyopathy, Abnormal heart valve morphology, Splenomegaly, Abnormality of the tonsils, Hepato...	ORPHA:93476
X-Linked Agammaglobulinemia	Cellulitis, Failure to thrive, Hepatitis, Weight loss, Thrombocytopenia, Neutropenia, Anemia, Rec...	ORPHA:47
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Micropenis, Decreased testicular size, Cholelithiasis, Cryptorchidism	OMIM:300534
Disabling Pansclerotic Morphea Of Childhood	Lymphopenia, Neutropenia, Joint contracture	OMIM:620443
Hereditary Hemorrhagic Telangiectasia	Nasal mucosa telangiectasia, Hematuria, Telangiectasia, Cirrhosis, Retinal telangiectasia, Cholel...	ORPHA:774
Retinoschisis 1, X-Linked, Juvenile	Vitreous hemorrhage	OMIM:312700
Mitchell-Riley Syndrome	Annular pancreas, Pancreatic hypoplasia, Cholestasis, Ascites, Absent gallbladder, Biliary atresi...	OMIM:615710
Schnitzler Syndrome	Vasculitis, Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly	ORPHA:37748
Cystic Echinococcosis	Cholestatic liver disease, Peritoneal abscess, Abnormality of the testis size, Elevated circulati...	ORPHA:400
Glycogen Storage Disease Ixc	Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen...	OMIM:613027
Bone Marrow Failure Syndrome 6	Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia	OMIM:618849
Idiopathic Aplastic Anemia	Gingival bleeding, Bone marrow hypocellularity, Epistaxis, Pancytopenia, Retinal hemorrhage, Ecch...	ORPHA:88
Harderoporphyria	Increased urinary porphobilinogen, Splenomegaly, Red urine, Reticulocytosis, Hepatomegaly, Prolon...	OMIM:618892
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Acute hepatic steatosis, Hepatitis, Cholestasis, Hepatic steatosis, Cholesterol gallstones, Macro...	ORPHA:209902
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Splenomegaly, Hepatomegaly	OMIM:616719
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Lymphopenia, Leukopenia, Splenomegaly, Ventricular septal defect, Hepatomegaly	OMIM:620210
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl...	ORPHA:2585
Aicardi-Goutieres Syndrome 4	Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Pancytopenia, Spleno...	OMIM:610333
Cimdag Syndrome	Hypogonadism, Hepatomegaly, Cholelithiasis, Microvesicular hepatic steatosis	OMIM:619273
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica...	OMIM:618534
Propionic Acidemia	Failure to thrive, Pancytopenia, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia	OMIM:606054
Microphthalmia, Syndromic 9	Hypoplastic left atrium, Renal hypoplasia, Multilobulated spleen, Horseshoe kidney, Tetralogy of ...	OMIM:601186
Neuraminidase Deficiency	Urinary excretion of sialylated oligosaccharides, Cardiomyopathy, Ascites, Increased urinary O-li...	OMIM:256550
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Autosomal Agammaglobulinemia	Cellulitis, Hepatitis, Failure to thrive, Neutropenia	ORPHA:33110
Lymphoproliferative Syndrome 1	Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ...	OMIM:613011
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Elliptocytosis, Macrocytic anemia, Anisocytosis, Neutropenia, P...	OMIM:300835
Erythrocytosis, Familial, 1	Increased hematocrit, Splenomegaly, Increased red blood cell mass, Increased circulating hemoglob...	OMIM:133100
Lathosterolosis	Hepatic fibrosis, Intrahepatic cholestasis, Horseshoe kidney, Elevated circulating aspartate amin...	OMIM:607330
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol...	ORPHA:766
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Jaundice, Megaloblastic anemia, Failure to thrive, Neutropenia	OMIM:250940
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Aortic valve calcification, Hepatic fibrosis, Cholelithiasis, Bacterial endocarditis, Abnormality...	ORPHA:2072
Aregenerative Anemia	Fatigable weakness of skeletal muscles, Pancytopenia, Decreased proportion of CD4-positive helper...	ORPHA:101096
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hepatitis, Hemophagocytosis, Pancytopenia, Splenomegaly, Hepatomegaly	OMIM:300635
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Neutropenia	OMIM:617243
Chronic Visceral Acid Sphingomyelinase Deficiency	Cholelithiasis, Hepatic failure, Abnormal bleeding, Decreased liver function, Abnormal heart valv...	ORPHA:77293
Wolcott-Rallison Syndrome	Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Exocrine pancreat...	ORPHA:1667
Felty Syndrome	Cellulitis, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly, Weight loss, Neutropenia,...	ORPHA:47612
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Failure to thrive, Umbilical hernia, Large for gestational age, Thrombocytopenia, Neutropenia, An...	OMIM:614520
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia	OMIM:613101
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Hepatic failure, Increased hepa...	OMIM:278000
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Cryptorchidism, Ventricular septal defect, Hydronephrosis, Anemia, Atrial sep...	ORPHA:163979
Immunodeficiency 32B	Failure to thrive, Impaired oxidative burst, Splenomegaly, Hepatomegaly, Eosinophilia, Monocytope...	OMIM:226990
Cryoglobulinemic Vasculitis	Vasculitis, Gastrointestinal hemorrhage, Abnormality of the liver, Renal insufficiency, Splenomeg...	ORPHA:91138
Immunodeficiency 27A	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis, Anemia, Enlarged...	OMIM:209950
Hb Bart'S Hydrops Fetalis	Congestive heart failure, Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly, Pericarditis	ORPHA:163596
Lissencephaly Syndrome, Norman-Roberts Type	Hypoplastic spleen, Atrial septal defect, Patent foramen ovale	ORPHA:89844
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho...	OMIM:607626
Congenital Enterovirus Infection	Hepatic failure, Hepatitis, Cholestasis, Leukopenia, Leukocytosis, Abnormal macrophage morphology...	ORPHA:292
Transaldolase Deficiency	Hepatic fibrosis, Clitoral hypertrophy, Micronodular cirrhosis, Decreased liver function, Hepatos...	OMIM:606003
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hypogonadism, Sideroblastic anemia, Azoospermia, Splenomegaly, Anemia, Elevated hepatic iron conc...	OMIM:615234
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Splenomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular ...	OMIM:613490
Basel-Vanagaite-Smirin-Yosef Syndrome	Cholelithiasis, Male urethral meatus stenosis, Ventricular septal defect, Hydronephrosis, Pulmona...	ORPHA:464738
Cholesteryl Ester Storage Disease	Hepatic failure, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice	ORPHA:75234
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Petechiae, Splenomegaly, Anemia, Vasculitis in the skin, Hepatomegaly, Purpura	OMIM:620296
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Absent circulating B cells	OMIM:620282
Waldenström Macroglobulinemia	Normocytic anemia, Gingival bleeding, Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Congest...	ORPHA:33226
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Absent circulating B cells, Decreased proportion of class-switched memory B cells, Neutropenia, B...	OMIM:619705
Mhc Class Ii Deficiency 1	Failure to thrive, Biliary tract abnormality, Neutropenia, Cholangitis, Viral hepatitis	OMIM:209920
Methylcobalamin Deficiency Type Cble	Increased mean corpuscular volume, Failure to thrive, Pancytopenia, Abnormality of the liver, Mac...	ORPHA:2169
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Anterior pituitary agenesis, Hypoplastic tricuspid valve, Pancreatic hypoplasia, Congenital defec...	ORPHA:2255
Immunodeficiency, Common Variable, 1	Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Lymph...	OMIM:607594
Fish-Eye Disease	Hepatomegaly, Angina pectoris, Splenomegaly, Lymphadenopathy	ORPHA:79292
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Failure to thrive, Inguinal hernia, Thrombocytopenia, Neutropenia, Normochromic anemia	OMIM:614857
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Ascites, Ac...	ORPHA:131
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hypertrophic cardiomyopathy, Hepat...	OMIM:613673
Meckel Syndrome, Type 3	Malformation of the hepatic ductal plate, Hepatic fibrosis, Multicystic kidney dysplasia, Hepatom...	OMIM:607361
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Renal insufficiency,...	OMIM:263200
Gaucher Disease, Type I	Aortic valve stenosis, Epistaxis, Pancytopenia, Hypersplenism, Splenomegaly, Mitral regurgitation...	OMIM:230800
Neonatal Alloimmune Neutropenia	Jaundice, Neutropenia in presence of anti-neutropil antibodies	ORPHA:464370
22Q11.2 Deletion Syndrome	Cryptorchidism, Ventricular septal defect, Atrial septal defect, Hypoparathyroidism, Purpura, Pol...	ORPHA:567
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Failure to thrive, Leukopenia, Pancreatitis, Thrombocytopenia, Neutropenia, Hepatomegaly	OMIM:251000
Immunodeficiency With Hyper-Igm, Type 1	Failure to thrive, Hepatitis, Chronic hepatitis, Splenomegaly, Sclerosing cholangitis, Cirrhosis,...	OMIM:308230
Trichohepatoneurodevelopmental Syndrome	Cholelithiasis, Decreased liver function, Exocrine pancreatic insufficiency, Splenomegaly, Ventri...	OMIM:618268
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom...	OMIM:619802
Trisomy 8P	Nephrocalcinosis, Annular pancreas, Tetralogy of Fallot, Abnormal left ventricle morphology, Cryp...	ORPHA:264450
Cyclic Neutropenia	Cellulitis, Lymphopenia, Cyclic neutropenia, Perianal abscess, Tooth abscess, Peritonitis, Thromb...	ORPHA:2686
Transcobalamin Ii Deficiency	Failure to thrive, Pancytopenia, Macrocytic anemia, Erythroid hypoplasia, Hepatomegaly, Reticuloc...	OMIM:275350
Letterer-Siwe Disease	Hepatosplenomegaly, Neutropenia, Thrombocytopenia, Anemia, Jaundice	OMIM:246400
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega...	ORPHA:98848
Follicular Lymphoma	Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy	ORPHA:545
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice	ORPHA:59303
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Hemophagocyto...	ORPHA:540
Metachromatic Leukodystrophy	Urinary incontinence, Hemobilia, Neoplasm of the gallbladder, Abnormal gallbladder morphology	ORPHA:512
Dyskeratosis Congenita, Autosomal Dominant 2	Hepatic fibrosis, Aplastic anemia, Failure to thrive, Pancytopenia, Leukopenia, Thrombocytopenia,...	OMIM:613989
Autoinflammatory Disease, Systemic, X-Linked	Hepatosplenomegaly, Panniculitis, Neutropenia, B lymphocytopenia	OMIM:301081
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Lymphoproliferative Syndrome 2	Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymph...	OMIM:615122
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra...	OMIM:619662
Familial Acute Necrotizing Encephalopathy	Choroid hemorrhage	ORPHA:88619
X-Linked Sideroblastic Anemia	Anemia, Elevated circulating hepatic transaminase concentration, Splenomegaly	ORPHA:75563
Immunodeficiency 54	Reduced natural killer cell count, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopa...	OMIM:609981
Developmental And Epileptic Encephalopathy 66	Anemia, Neutropenia	OMIM:618067
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly	OMIM:618495
Shwachman-Diamond Syndrome 1	Elevated circulating hepatic transaminase concentration, Failure to thrive, Persistence of hemogl...	OMIM:260400
Congenital Disorder Of Glycosylation, Type Iif	Macrothrombocytopenia, Thrombocytopenia, Neutropenia	OMIM:603585
Immunodeficiency, Common Variable, 2	Abnormal T cell count, Splenomegaly, Follicular hyperplasia, Lymphadenopathy, Hepatomegaly	OMIM:240500
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Anemia, Neutropenia	OMIM:617056
Fetal Gaucher Disease	Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly, Intracrani...	ORPHA:85212
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:42642
Gracile Bone Dysplasia	Micropenis, Asplenia, Hypoplastic spleen, Ascites	OMIM:602361
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Genital ulcers, Lymphopenia, Lymph node hyp...	OMIM:602450
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Chronic kidney disease, Hepatic fibrosis, Hepatic failure, Nephronophthisis, Cholestasis, Splenom...	OMIM:615630
Chediak-Higashi Syndrome	Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Hepatomegaly, Abnormal den...	OMIM:214500
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Recurrent tonsillitis, Lymphadenitis, Granuloma, Lymphopenia, Hepatosplenomeg...	OMIM:618935
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia	OMIM:231000
Bone Marrow Failure Syndrome 3	Aplastic anemia, Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin ...	OMIM:617052
Acute Generalized Exanthematous Pustulosis	Elevated circulating hepatic transaminase concentration, Cholestasis, Leukocytosis, Eosinophilia,...	ORPHA:293173
Cold Agglutinin Disease	Abnormal urinary color, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic anemia	ORPHA:56425
Heart Defects, Congenital, And Other Congenital Anomalies	Total absence of the pericardium, Hypoplastic tricuspid valve, Glycosuria, Pancreatic hypoplasia,...	OMIM:600001
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Petechiae, Anemia, Thrombocytopenia, Hepatomegaly	OMIM:611490
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di...	OMIM:254450
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Hyperparathyroidism, Anemia, Splenomegaly	OMIM:618107
Vitreoretinopathy, Neovascular Inflammatory	Posterior retinal neovascularization, Peripheral retinal neovascularization, Vitreous hemorrhage	OMIM:193235
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Hepatic sinusoidal dilatation, Tricuspid regurgitation, Splenic cyst, Cryptorchidism, Patent fora...	OMIM:620371
Cerebrotendinous Xanthomatosis	Angina pectoris, Cholelithiasis, Myocardial infarction	OMIM:213700
Pearson Marrow-Pancreas Syndrome	Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Exoc...	OMIM:557000
Gray Platelet Syndrome	Epistaxis, Abnormal bleeding, Bruising susceptibility, Abnormal number of alpha granules, Splenom...	OMIM:139090
Autosomal Recessive Polycystic Kidney Disease	Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun...	ORPHA:731
Refractory Anemia With Excess Blasts	Abnormal mean corpuscular volume, Bone marrow hypocellularity, Abnormal bleeding, Palpitations, L...	ORPHA:86839
Coach Syndrome 1	Unilateral renal agenesis, Hepatic fibrosis, Nephronophthisis, Abnormal abdomen morphology, Eleva...	OMIM:216360
Glycogen Storage Disease Ixb	Hepatomegaly, Splenomegaly, Increased hepatic glycogen content	OMIM:261750
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Pulmonary embolism, Splenomegaly, Reticulocyto...	OMIM:185000
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Hepatic failure, Splenomegaly	ORPHA:664
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Anemia, Splenomegaly, Thrombocytopenia	OMIM:615085
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hepatic steatosis	OMIM:612526
Autoinflammation With Infantile Enterocolitis	Reduced natural killer cell count, Diffuse alveolar hemorrhage, Pancytopenia, Splenomegaly, Throm...	OMIM:616050
Evans Syndrome	Jaundice, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of an...	ORPHA:1959
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Mucopolysaccharidosis, Type Iiib	Heparan sulfate excretion in urine, Splenomegaly, Cardiomegaly, Hepatomegaly, Asymmetric septal h...	OMIM:252920
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Gingival bleeding, Epistaxis, Stomatocytosis, Bruising susceptibility, Prolonged bleeding after d...	OMIM:153670
Typhoid	Epistaxis, Gastrointestinal hemorrhage, Splenomegaly, Arrhythmia, Hepatomegaly, Cardiac arrest	ORPHA:99745
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Precocious puberty, Cholelithiasis, Hepatosplenomegaly, Cholecystitis, Hepatomegaly	OMIM:301066
Ziegler-Huang Syndrome	Neutropenia, Macrocytic anemia, Persistence of hemoglobin F	OMIM:620501
Legionnaires Disease	Bone marrow hypocellularity, Hypotension, Hepatitis, Lymphopenia, Renal insufficiency, Splenomega...	ORPHA:549
Polycythemia Vera	Gingival bleeding, Epistaxis, Acute leukemia, Gastrointestinal hemorrhage, Pulmonary embolism, Po...	ORPHA:729
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Failure to thrive, Lymphopenia, Hepatosplenomegaly, Leukopenia, Inguinal hernia, Splenomegaly, Er...	OMIM:612541
Activated Pi3K-Delta Syndrome	Recurrent tonsillitis, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hepatomegaly	ORPHA:397596
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Micronodula...	OMIM:192315
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Ventricular septal defect, C...	OMIM:301068
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Cholelithiasis, Severe B lymphocytopenia, Pancreatic hypoplasia, Cryptorchidism, Hydronephrosis, ...	ORPHA:83617
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Drug-Induced Autoimmune Hemolytic Anemia	Congestive heart failure, Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Tach...	ORPHA:90037
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ...	OMIM:618641
Pgm3-Cdg	Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous abscess, Failure to thrive, ...	ORPHA:443811
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Lymphopenia, Reduced natural killer cell count, Cutaneous abscess, Neutropenia	OMIM:619752
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Hepatocel...	OMIM:601847
Griscelli Syndrome	Bone marrow hypocellularity, Hepatitis, Ascites, Leukopenia, Splenomegaly, Lymphadenopathy, Throm...	ORPHA:381
Wilson Disease	Elevated circulating hepatic transaminase concentration, Hepatitis, Bruising susceptibility, Acut...	ORPHA:905
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Spider hemangioma, Elevated circulating hepatic transaminase concent...	ORPHA:2137
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, E...	ORPHA:79303
Craniofacioskeletal Syndrome	Absent gallbladder, Cryptorchidism, Ventricular septal defect, Hydronephrosis, Atrial septal defe...	OMIM:300712
Agammaglobulinemia 8B, Autosomal Recessive	B Acute Lymphoblastic Leukemia, Pancytopenia, Splenomegaly, Increased proportion of effector memo...	OMIM:619824
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Congestive heart failure, Autoimmune hemolytic anemia, Splenomegaly, Chro...	ORPHA:90033
Nephronophthisis 13	Renal hypoplasia, Nephronophthisis, Stage 5 chronic kidney disease, Intrahepatic bile duct dilata...	OMIM:614377
Methylmalonic Aciduria, Cblb Type	Failure to thrive, Pancytopenia, Hepatomegaly, Thrombocytopenia, Neutropenia, Anemia	OMIM:251110
Pearson Syndrome	Pancytopenia, Hepatic steatosis, Neutropenia, Hepatomegaly, Hypoparathyroidism, Hypoplastic splee...	ORPHA:699
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Abnormal mesentery morphology, Abnormality of the gallbladder, Cryp...	ORPHA:2075
Acute Promyelocytic Leukemia	Pancytopenia, Leukopenia, Leukocytosis, Weight loss, Neutropenia, Thrombocytopenia, Anemia	ORPHA:520
Congenital Disorder Of Glycosylation, Type Iil	Unilateral renal agenesis, Proximal tubulopathy, Abnormal bleeding, Elevated circulating hepatic ...	OMIM:614576
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic tra...	OMIM:607765
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Lymphadenopathy	OMIM:611762
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatic fibrosis, Hematochezia, Dilated cardiomyopathy, Lymphadenitis, Elevated circulating hepat...	OMIM:615895
Fusariosis	Cellulitis, Granuloma, Brain abscess, Fasciitis, Abnormality of the spleen, Lymphopenia, Abnormal...	ORPHA:228119
Mitochondrial Complex I Deficiency, Nuclear Type 33	Small for gestational age, Neutropenia	OMIM:618253
Shwachman-Diamond Syndrome	Normocytic anemia, Elevated circulating hepatic transaminase concentration, Aplastic anemia, Incr...	ORPHA:811
Digeorge Syndrome	Unilateral renal agenesis, Cholelithiasis, Parathyroid hypoplasia, Tetralogy of Fallot, Renal ins...	OMIM:188400
Peutz-Jeghers Syndrome	Biliary tract neoplasm, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Abnormality of th...	ORPHA:2869
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:235555
Cohen Syndrome	Leukopenia, Childhood-onset truncal obesity, Small for gestational age, Neutropenia	OMIM:216550
Bohring-Opitz Syndrome	Cholelithiasis, Annular pancreas, Urinary retention, Cardiomegaly, Abnormal cardiac septum morpho...	ORPHA:97297
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Failure to thrive, Pancytopenia, Hepatomegaly, Megaloblastic anemia, Thrombocytopenia, Neutropeni...	OMIM:277380
Juvenile Xanthogranuloma	Myeloproliferative disorder, Hyphema	ORPHA:158000
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Prolidase Deficiency	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Petechiae, Prolonged...	OMIM:170100
Ketamine-Induced Biliary Dilatation	Dysuria, Abnormal biliary tract morphology	ORPHA:293807
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Microcytic anemia, Ascites, Elevated circulating aspartate aminotransfera...	OMIM:257200
Shwachman-Diamond Syndrome 2	Normocytic anemia, Failure to thrive, Exocrine pancreatic insufficiency, Hyperechogenic pancreas,...	OMIM:617941
Barth Syndrome	Failure to thrive, Cyclic neutropenia, Hypochromic microcytic anemia, Neutropenia, Granulocytopenia	OMIM:302060
Alkaptonuria	Aminoaciduria, Aortic valve stenosis, Aortic valve calcification, Elevated urinary homogentisic a...	ORPHA:56
Tafro Syndrome	Ascites, Hepatosplenomegaly, Renal insufficiency, Splenomegaly, Leukocytosis, Anemia, Lymphadenop...	ORPHA:457077
Methylmalonic Aciduria, Cbla Type	Failure to thrive, Pancytopenia, Hepatomegaly, Thrombocytopenia, Neutropenia, Anemia	OMIM:251100
Retinoblastoma	Pineoblastoma, Hyphema, Subretinal pigment epithelium hemorrhage, Vitreous hemorrhage, Leukemia	ORPHA:790
3-Methylglutaconic Aciduria Type 7	Elevated circulating hepatic transaminase concentration, Infection associated neutropenia, Hepati...	ORPHA:445038
Hemophagocytic Syndrome Associated With An Infection	Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Pancytopenia, Abnormal...	ORPHA:158048
Immunodeficiency 110 With Lymphoproliferation	Lymphopenia, Autoimmune hemolytic anemia, Neutropenia	OMIM:614868
Eales Disease	Epistaxis, Peripheral retinal neovascularization, Transient ischemic attack, Ischemic stroke, Vit...	ORPHA:40923
Schimke Immuno-Osseous Dysplasia	Abnormal proportion of naive CD4 T cells, Failure to thrive, Lymphopenia, Pancreatitis, Decreased...	ORPHA:1830
Mucopolysaccharidosis-Plus Syndrome	Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia, Thrombocytopenia, Anemia, Flexion contractur...	OMIM:617303
Symptomatic Form Of Hfe-Related Hemochromatosis	Cardiomyopathy, Congestive heart failure, Portal hypertension, Splenomegaly, Cardiomegaly, Hypogo...	ORPHA:465508
Sepsis In Premature Infants	Decreased liver function, Leukocytosis, Splenomegaly, Decreased body weight, Hepatomegaly, Thromb...	ORPHA:90051
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Renal insufficiency, Retinal hemorrhage, Hematuria, Renal cyst, Raynaud phenomenon, Supraventricu...	OMIM:611773
3-Methylglutaconic Aciduria, Type Viia	Anemia, Neutropenia, Anisopoikilocytosis	OMIM:619835
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated circulating hepatic transaminase concentration, Brain abscess, Weight loss, Neutrophilia...	ORPHA:54251
Congenital Disorder Of Glycosylation, Type Iic	Cellulitis, Reduction of neutrophil motility, Neutrophilia	OMIM:266265
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hepatomegaly, J...	OMIM:612714
Wolman Disease	Hepatic failure, Ascites, Splenomegaly, Anemia, Hepatomegaly, Bone-marrow foam cells	ORPHA:75233
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Hepatic failure, Increased mean corpuscular volume, Po...	OMIM:620367
Omenn Syndrome	Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Anemia, Eosinophilia, Lymphadenopathy...	ORPHA:39041
Triploidy	Abnormality of the gallbladder, Cryptorchidism, Ambiguous genitalia, Abnormal cardiac septum morp...	ORPHA:3376
Glycogen Storage Disease Ixa1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly	OMIM:306000
Mixed Connective Tissue Disease	Nephropathy, Gastrointestinal hemorrhage, Hemolytic anemia, Leukopenia, Splenomegaly, Purpura, Pu...	ORPHA:809
Pseudo-Torch Syndrome 1	Elevated circulating hepatic transaminase concentration, Decreased liver function, Renal insuffic...	OMIM:251290
American Trypanosomiasis	Cardiomyopathy, Congestive heart failure, Splenomegaly, Arrhythmia, Lymphadenopathy, Myocarditis,...	ORPHA:3386
Exudative Vitreoretinopathy 4	Vitreous hemorrhage	OMIM:601813
Q Fever	Vasculitis, Elevated circulating hepatic transaminase concentration, Granuloma, Hepatitis, Abnorm...	ORPHA:781
Adams-Oliver Syndrome 5	Hypersplenism, Splenomegaly, Patent foramen ovale, Portal vein thrombosis, Pulmonary arterial hyp...	OMIM:616028
Senior-Boichis Syndrome	Chronic kidney disease, Malformation of the hepatic ductal plate, Renal hypoplasia, Hepatic fibro...	ORPHA:84081
Spherocytosis, Type 4	Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:612653
Aspergillosis	Eosinophilia, Hepatitis, Neutropenia	ORPHA:1163
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Lymphopenia, Leukopenia, Neutropenia, Schistocytosis, Anemia, Thrombocytopenia, Hemolytic anemia	OMIM:301110
Trichothiodystrophy 3, Photosensitive	Lymphopenia, Failure to thrive, Neutropenia	OMIM:616395
Scrub Typhus	Hypotension, Abnormal bleeding, Renal insufficiency, Splenomegaly, Lymphadenopathy, Myocarditis	ORPHA:83317
Methylmalonic Acidemia With Homocystinuria Type Cblf	Reduced number of intrahepatic bile ducts, Megaloblastic anemia, Failure to thrive, Neutropenia	ORPHA:79284
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Pancytopenia, Splenomegaly	OMIM:614979
Dominant Beta-Thalassemia	Hepatic fibrosis, Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hematopoiesis, Per...	ORPHA:231226
Tyrosinemia, Type I	Acute hepatic failure, Cirrhosis, Glomerular sclerosis, Hepatomegaly, Gastrointestinal hemorrhage...	OMIM:276700
Immunodeficiency, Common Variable, 8, With Autoimmunity	Failure to thrive, Pancytopenia, Splenomegaly, Autoimmune hemolytic anemia, Decreased proportion ...	OMIM:614700
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hypotension, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chro...	ORPHA:98849
Spherocytosis, Type 2	Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:616649
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel...	OMIM:616005
Macrocephaly/Autism Syndrome	Lymphopenia, Penile freckling, Splenomegaly, Hepatomegaly, Hydrocele testis	OMIM:605309
Omenn Syndrome	Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Hepatomegaly, Anemia, Lymphadenopathy, Thro...	OMIM:603554
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutropenia, Thrombocytopenia, Ane...	ORPHA:508542
Adult-Onset Still Disease	Bone marrow hypocellularity, Elevated circulating hepatic transaminase concentration, Hepatitis, ...	ORPHA:829
Gamma-Heavy Chain Disease	Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Anemia, Lymphadenopath...	ORPHA:100026
3-Methylglutaconic Aciduria, Type Viib	Leukopenia, Hepatic steatosis, Thrombocytopenia, Neutropenia, Flexion contracture	OMIM:616271
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Splenomegaly, Pericarditis, Lymphadenopathy	ORPHA:85414
Necrotizing Enterocolitis	Leukocytosis, Peritonitis, Thrombocytopenia, Neutropenia, Small for gestational age	ORPHA:391673
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatic failure, Abnormality of the uterus, Pancreatic lymphangiectasis, Ascites, Hepatosplenomeg...	ORPHA:1655
Schimke Immunoosseous Dysplasia	Lymphopenia, Pancytopenia, Abnormal T cell morphology, Thrombocytopenia, Neutropenia, Anemia, Sma...	OMIM:242900
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis	OMIM:619281
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate...	OMIM:224120
Beta-Thalassemia Major	Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,...	ORPHA:231214
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab...	OMIM:608203
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Cardi...	ORPHA:264580
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal hypertrophy	OMIM:252900
Vacterl/Vater Association	Multicystic kidney dysplasia, Abnormality of the urethra, Bifid scrotum, Abnormal morphology of f...	ORPHA:887
Immunodeficiency 23	Failure to thrive, Lymphopenia, Abscess, Eosinophilia, Neutropenia, Hemolytic anemia	OMIM:615816
Hermansky-Pudlak Syndrome 2	Reduced natural killer cell count, Enlarged platelet dense granules, Hepatosplenomegaly, Decrease...	OMIM:608233
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Failure ...	OMIM:619644
Williams Syndrome	Cryptorchidism, Mitral regurgitation, Polycystic ovaries, Ventricular septal defect, Bicuspid aor...	ORPHA:904
Tetrasomy 9P	Horseshoe kidney, Absent gallbladder, Cryptorchidism, Abnormal mitral valve morphology, Biliary a...	ORPHA:3310
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Hepatitis, Failure to thrive in infancy, Acute hepatic failure, Hepatosplenomegaly, Pancytopenia,...	ORPHA:228426
Histiocytosis-Lymphadenopathy Plus Syndrome	Pancreatic hypoplasia, Decreased response to growth hormone stimulation test, Cervical lymphadeno...	OMIM:602782
Mcleod Syndrome	Dilated cardiomyopathy, Cardiomyopathy, Elevated circulating aspartate aminotransferase concentra...	OMIM:300842
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Generalized aminoaciduria, Depletion of mitochondrial DNA in liver, Periportal fibrosis, Hepatic ...	OMIM:251880
Pparg-Related Familial Partial Lipodystrophy	Congestive heart failure, Hypertrophic cardiomyopathy, Hepatic steatosis, Splenomegaly, Polycysti...	ORPHA:79083
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Uterus didelphys, Tetralogy of Fallot, Septate vagina, Absent gallbladder, Complete atrioventricu...	OMIM:617925
Immunodeficiency 10	Autoimmune hemolytic anemia, Splenomegaly, Abnormal lymphocyte count, Lymphadenopathy, Hepatomega...	OMIM:612783
Meckel Syndrome, Type 4	Renal cyst, Atrial septal defect, Bile duct proliferation, Ventricular septal defect	OMIM:611134
Exudative Vitreoretinopathy 1	Vitreous hemorrhage, Retinal neovascularization	OMIM:133780
Diamond-Blackfan Anemia 11	Neutropenia, Anemia of inadequate production	OMIM:614900
Atelis Syndrome 2	Vitreous hemorrhage, Thrombocytopenia, Anemia, Supravalvar pulmonary stenosis, Pulmonic stenosis	OMIM:620185
Hemophagocytic Lymphohistiocytosis, Familial, 2	Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Hepatosplenomegaly, Pa...	OMIM:603553
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hepatomegaly, Reduced renal corticomedullary differentiation, Splenomegaly	OMIM:618541
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatic failure, Pancreatic lymphangiectasis, Ascites, Cryptorchidism, Splenomegaly, Ventricular ...	OMIM:235255
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Familial Exudative Vitreoretinopathy	Vitreous hemorrhage, Retinal neovascularization, Macular telangiectasia	ORPHA:891
Developmental Delay, Hypotonia, And Impaired Language	Neutropenia	OMIM:620012
Gaucher Disease, Type Iiic	Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val...	OMIM:231005
Fanconi Anemia, Complementation Group E	Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia, Small for gesta...	OMIM:600901
Vitreoretinochoroidopathy	Vitreous hemorrhage, Retinal neovascularization	OMIM:193220
Tropical Endomyocardial Fibrosis	Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur...	ORPHA:75565
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Elevated circulating hepatic transaminase concentration, Hepatitis, Failure to thrive in infancy,...	ORPHA:37042
Elliptocytosis 1	Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis	OMIM:611804
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly, Autoimmune...	OMIM:616100
Immunodeficiency 47	Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Normocytic anemia, Elevated circul...	OMIM:300972
Syndromic Diarrhea	Aortic regurgitation, Hepatic fibrosis, Renal hypoplasia, Abnormal heart morphology, Lymphopenia,...	ORPHA:84064
Hermansky-Pudlak Syndrome 10	Hepatomegaly, Splenomegaly, Neutropenia	OMIM:617050
Meckel Syndrome, Type 5	Renal cyst, Bile duct proliferation	OMIM:611561
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Microcytic anemia, Hepatomegaly, Neutropenia	OMIM:251900
Steinert Myotonic Dystrophy	Male hypogonadism, Cholelithiasis, Dilated cardiomyopathy, Elevated circulating hepatic transamin...	ORPHA:273
Glycogen Storage Disease Ib	Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Decr...	OMIM:232220
Fanconi Anemia, Complementation Group I	Neutropenia, Decreased body weight	OMIM:609053
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Elevated circulating hepatic transaminase concentration, Failure to thrive, Small for gestational...	OMIM:615471
Cryohydrocytosis	Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis	OMIM:185020
Acute Panmyelosis With Myelofibrosis	Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye...	ORPHA:86843
Chédiak-Higashi Syndrome	Abnormality of neutrophil physiology, Elevated circulating hepatic transaminase concentration, He...	ORPHA:167
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi...	OMIM:264800
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Leukocytosis, Splenomegaly	OMIM:618042
Primary Hepatic Neuroendocrine Carcinoma	Elevated circulating hepatic transaminase concentration, Right ventricular failure, Ascites, Palp...	ORPHA:100085
Fanconi Anemia, Complementation Group C	Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia, Flexion contrac...	OMIM:227645
Fanconi Anemia, Complementation Group A	Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia, Small for gesta...	OMIM:227650
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Aminoaciduria, Nephrocalcinosis, Cardiomyopathy, Sideroblastic anemia, Splenomegaly, B lymphocyto...	OMIM:616084
Reynolds Syndrome	Gastrointestinal hemorrhage, Biliary cirrhosis, Elevated circulating hepatic transaminase concent...	OMIM:613471
Joubert Syndrome 6	Hepatic fibrosis, Stage 5 chronic kidney disease, Bile duct proliferation, Nephronophthisis	OMIM:610688
Heterotaxy, Visceral, 1, X-Linked	Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy...	OMIM:306955
Scheie Syndrome	Hepatomegaly, Aortic regurgitation, Mucopolysacchariduria, Splenomegaly	ORPHA:93474
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hemophagocytosis, Leukopenia, Splenomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Prolonged ...	OMIM:267700
Persistent Hyperplastic Primary Vitreous	Hemorrhage of the eye	ORPHA:91495
Trisomy 10P	Abnormal heart morphology, Rectovaginal fistula, Multiple renal cysts, Absent gallbladder	ORPHA:171929
Familial Thrombocytosis	Chronic myelogenous leukemia, Abnormal bleeding, Transient ischemic attack, Cerebral ischemia, Sp...	ORPHA:71493
Kasabach-Merritt Phenomenon	Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Neutropenia, Thrombocytopenia, An...	ORPHA:2330
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Exocrine pancreatic insufficiency, Hepatosplenomegaly, Autoimmune hemolytic anemia, Eosinophilia,...	OMIM:615952
Immunodeficiency 60 And Autoimmunity	Decreased proportion of memory B cells, Pancytopenia, Decreased basophil count, Splenomegaly	OMIM:618394
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Pulmonary arterial hypertension, Mediastinal lymphadenopathy, Splenomegaly	OMIM:612387
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Failure to thrive in infancy, Leukocytosis, Increased proportion of CD4-positive T cells, Lipodys...	OMIM:617099
Dyskeratosis Congenita, Autosomal Dominant 3	Aplastic anemia, Pancytopenia, Leukopenia, Macrocytic anemia, Neutropenia, Thrombocytopenia, Anemia	OMIM:613990
Rift Valley Fever	Gingival bleeding, Elevated circulating hepatic transaminase concentration, Abnormal bleeding, He...	ORPHA:319251
Steinfeld Syndrome	Abnormal heart morphology, Absent gallbladder	OMIM:184705
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Aortic valve stenosis, Multicystic kidney dysplasia, Hyphema, Cryptorchidism, Ventricular septal ...	ORPHA:261552
Peutz-Jeghers Syndrome	Intestinal bleeding, Uterine neoplasm, Bile duct polyp, Abnormality of the ureter, Ovarian cyst, ...	OMIM:175200
Uveal Melanoma	Vitreous hemorrhage	ORPHA:39044
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Minimal change glomerulonephritis, Hematochezia, Hepatitis, Leukocytosis, Autoimmune hemolytic an...	OMIM:620565
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Granuloma, Ch...	ORPHA:562639
Cartilage-Hair Hypoplasia	Lymphopenia, Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Conge...	OMIM:250250
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Anemia, Splenomegaly, Pancytopenia, Hemophagocytosis	OMIM:618398
Autoinflammatory Disease, Systemic, With Vasculitis	Hepatic fibrosis, Parotitis, Cholestasis, Elevated circulating aspartate aminotransferase concent...	OMIM:620376
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Nephrocalcinosis, Restrictive cardiomyopathy, Bruising susceptibilit...	ORPHA:758
Cerebrotendinous Xanthomatosis	Prolonged neonatal jaundice, Cholelithiasis, Abnormal atrial septum morphology	ORPHA:909
Poikiloderma With Neutropenia	Leukopenia, Splenomegaly, Neutropenia	OMIM:604173
Agammaglobulinemia 1, Autosomal Recessive	Rectal abscess, Failure to thrive, Neutropenia, B lymphocytopenia	OMIM:601495
Purine Nucleoside Phosphorylase Deficiency	Decreased urinary urate, Cerebral vasculitis, Elevated urinary inosine level, Lymphopenia, Lymph ...	OMIM:613179
Pancreatic Agenesis-Holoprosencephaly Syndrome	Absent gallbladder, Pancreatic aplasia	ORPHA:556955
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Neutropenia, Failure to thrive, Joint contracture	OMIM:618005
Primary Triglyceride Deposit Cardiomyovasculopathy	Cardiomyopathy, Coronary artery stenosis, Abnormal cardiomyocyte morphology, Palpitations, Spleno...	ORPHA:565612
Zttk Syndrome	Aortic regurgitation, Unilateral renal agenesis, Horseshoe kidney, Absent gallbladder, Ventricula...	OMIM:617140
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Bone marrow hypocellularity, Vasculitis, Dilated cardiomyopathy, Elevated circulating hepatic tra...	OMIM:615688
8P11.2 Deletion Syndrome	Hypogonadism, Azoospermia, Cryptorchidism, Splenomegaly, Mitral valve prolapse, Hypogonadotropic ...	ORPHA:251066
Gaucher Disease Type 3	Aortic valve calcification, Abnormal heart valve morphology, Pancytopenia, Splenomegaly, Hematuri...	ORPHA:77261
Liver Disease, Severe Congenital	Portal inflammation, Dilatation of the ventricular cavity, Hepatic steatosis, Ventricular septal ...	OMIM:619991
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia	OMIM:619183
Idiopathic Hypereosinophilic Syndrome	Hepatosplenomegaly, Thrombocytosis, Myocardial eosinophilic infiltration, Neutrophilia, Myeloprol...	ORPHA:3260
Diamond-Blackfan Anemia 7	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612562
Toxic Epidermal Necrolysis	Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Weight loss, Panc...	ORPHA:537
Ring Chromosome 13 Syndrome	Bifid scrotum, Ambiguous genitalia, Urogenital sinus anomaly, Hypoplasia of the gallbladder, Micr...	ORPHA:96176
Glycogen Storage Disease Ii	Sinus tachycardia, Splenomegaly, Shortened PR interval, Cardiomegaly, Hepatomegaly, Subarachnoid ...	OMIM:232300
Combined Oxidative Phosphorylation Deficiency 37	Elevated circulating hepatic transaminase concentration, Decreased liver function, Hypertrophic c...	OMIM:618329
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatic fibrosis, Pancreatic hypoplasia, Hepatitis, Cholestasis, Portal hypertension, Splenic cys...	OMIM:610199
Fucosidosis	Hepatomegaly, Abnormality of the gallbladder, Mucopolysacchariduria, Cardiomegaly	ORPHA:349
Autoimmune Lymphoproliferative Syndrome	Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport...	ORPHA:3261
Meckel Syndrome, Type 2	Renal cyst, Bile duct proliferation	OMIM:603194
Familial Mediterranean Fever	Stage 5 chronic kidney disease, Leukocytosis, Splenomegaly, Orchitis, Peritonitis, Neutrophilia, ...	OMIM:249100
Common Variable Immunodeficiency	Vasculitis, Elevated circulating hepatic transaminase concentration, Lymphopenia, Abnormality of ...	ORPHA:1572
Hereditary Orotic Aciduria	Aminoaciduria, Oroticaciduria, Abnormality of the ureter, Splenomegaly, Orotic acid crystalluria,...	ORPHA:30
Congenital Disorder Of Glycosylation, Type Iiw	Moderate albuminuria, Elevated circulating hepatic transaminase concentration, Increased hepatic ...	OMIM:619525
Familial Mediterranean Fever	Nephropathy, Vasculitis, Nephrocalcinosis, Ascites, Acute hepatic failure, Leukocytosis, Splenome...	ORPHA:342
Leigh Syndrome	Hepatic failure, Failure to thrive, Multiple joint contractures, Neutropenia, Anemia	ORPHA:506
Cockayne Syndrome Type 3	Unilateral renal agenesis, Renal hypoplasia, Elevated circulating hepatic transaminase concentrat...	ORPHA:90324
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Hyphema	OMIM:221900
Niemann-Pick Disease, Type C1	Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Fatal liver failure in infancy, Prolonged ne...	OMIM:257220
Brucellosis	Arteritis, Hypersplenism, Glomerulonephritis, Hepatomegaly, Purpura, Endocarditis, Epididymitis, ...	ORPHA:1304
Pediatric-Onset Graves Disease	Elevated circulating hepatic transaminase concentration, Failure to thrive, Splenomegaly, Thrombo...	ORPHA:525731
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Exocrine pancreatic insufficiency, Absent gallbladder, Elevated circulating alanine aminotransfer...	OMIM:618500
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Severe B lymphocytopenia, Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Reduced red cel...	OMIM:102700
Trichohepatoenteric Syndrome 1	Aortic regurgitation, Galactosuria, Hepatic fibrosis, Hepatic failure, Cholestasis, Tetralogy of ...	OMIM:222470
Gallbladder Neuroendocrine Tumor	Biliary tract neoplasm, Ascites, Chronic noninfectious lymphadenopathy, Cholecystitis, Intermitte...	ORPHA:100086
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Failure to thrive, Megaloblastic anemia, Thrombocytopenia, Neutropenia, Hepatomegaly, Small for g...	OMIM:277400
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated circulating hepatic transaminase concentration, Lymphopenia, Splenomegaly, Anemia, Lymph...	OMIM:617591
Fanconi Anemia, Complementation Group D2	Annular pancreas, Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemi...	OMIM:227646
Relapsing Fever	Elevated circulating hepatic transaminase concentration, Leukopenia, Leukocytosis, Thrombocytopen...	ORPHA:91547
Agammaglobulinemia, X-Linked	B lymphocytopenia, Enteroviral hepatitis, Neutropenia, Anemia, T lymphocytopenia, Hepatocellular ...	OMIM:300755
D-Bifunctional Protein Deficiency	Fetal ascites, Elevated circulating hepatic transaminase concentration, Cholestasis, Hepatic stea...	OMIM:261515
Immunodeficiency 55	Lymphopenia, Absent natural killer cells, Neutropenia	OMIM:617827
Trichothiodystrophy	Increased mean corpuscular hemoglobin concentration, Umbilical hernia, Absence of subcutaneous fa...	ORPHA:33364
Cranioectodermal Dysplasia 2	Portal fibrosis, Biliary cirrhosis, Elevated circulating hepatic transaminase concentration, Poly...	OMIM:613610
Khan-Khan-Katsanis Syndrome	Failure to thrive, Lymphopenia, Corneal scarring, Neutropenia, Joint contracture, Anemia	OMIM:618460
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Chronic kidney disease, Nephritis, Hepatic fibrosis, Renal insufficiency, Proteinuria, Renal cyst...	OMIM:208500
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Tetralogy of Fallot, Overriding aorta, Absent gallbladder	ORPHA:3186
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin...	ORPHA:124
Sitosterolemia 1	Stomatocytosis, Giant platelets, Abnormal bleeding, Reticulocytosis, Splenomegaly, Episodic hemol...	OMIM:210250
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:436159
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Polysplenia, Exocrine pancreatic insufficiency, Hepa...	OMIM:619418
Cohen Syndrome	Failure to thrive in infancy, Obesity, Neutropenia	ORPHA:193
Peters-Plus Syndrome	Renal hypoplasia, Cryptorchidism, Biliary tract abnormality, Hydronephrosis, Ventricular septal d...	OMIM:261540
Saul-Wilson Syndrome	Neutropenia	OMIM:618150
Retinoblastoma	Pinealoma, Vitreous hemorrhage, Leukemia	OMIM:180200
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Chronic leukemia,...	ORPHA:906
Chronic Granulomatous Disease	Splenomegaly, Hepatomegaly, Abnormality of neutrophils, Mediastinal lymphadenopathy, Liver abscess	ORPHA:379
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Failure to thrive, Hepatic steatosis, Increased hepatic glycogen content, Hepatomegaly, Hepatocel...	ORPHA:79259
Hyperparathyroidism, Neonatal Severe	Aminoaciduria, Hyperphosphaturia, Splenomegaly, Anemia, Hypercalciuria, Polyuria, Hepatomegaly, P...	OMIM:239200
Cartilage-Hair Hypoplasia	Failure to thrive, Hepatomegaly, Neutropenia, Anemia, Abnormality of the pancreas	ORPHA:175
Lysinuric Protein Intolerance	Aminoaciduria, Hyperlysinuria, Hemophagocytosis, Oroticaciduria, Leukopenia, Stage 5 chronic kidn...	OMIM:222700
Vici Syndrome	Failure to thrive, Lymphopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ...	OMIM:242840
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphopenia, Autoimmune thrombocytopenia, Neutropenia, T lymphocytopenia	OMIM:607944
Renal Cysts And Diabetes Syndrome	Unilateral renal agenesis, Renal hypoplasia, Elevated circulating hepatic transaminase concentrat...	OMIM:137920
Whim Syndrome	Cellulitis, Lymphopenia, Abnormal neutrophil morphology, Neutropenia	ORPHA:51636
Kikuchi-Fujimoto Disease	Vasculitis, Elevated circulating hepatic transaminase concentration, Abnormal lymph node morpholo...	ORPHA:50918
Biliary, Renal, Neurologic, And Skeletal Syndrome	Unbalanced atrioventricular canal defect, Cholestasis, Dark urine, Congenital hepatic fibrosis, V...	OMIM:619534
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Rectal ab...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Rectal ab...	OMIM:233710
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated circulating hepatic transaminase concentration, Polycythemia, Micronodular cirrhosis, Hy...	ORPHA:309854
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Mitral valve prolapse, Angina pectoris, Cerebral hemorrhage, Retinal...	OMIM:177850
Primary Biliary Cholangitis	Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Ascites, Portal hypertension, Sp...	ORPHA:186
Hyper-Igd Syndrome	Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Elevated urine mevalonic acid leve...	OMIM:260920
Fanconi Anemia, Complementation Group Q	Bone marrow hypocellularity, Primum atrial septal defect, Biliary atresia	OMIM:615272
Familial Tumoral Calcinosis	Hepatomegaly, Nephrocalcinosis, Splenomegaly	ORPHA:53715
Lipodystrophy, Congenital Generalized, Type 2	Clitoral hypertrophy, Elevated circulating hepatic transaminase concentration, Hypertrophic cardi...	OMIM:269700
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Rectal ab...	OMIM:233690
Metachromatic Leukodystrophy, Adult Form	Urinary incontinence, Orthostatic hypotension due to autonomic dysfunction, Neoplasm of the gallb...	ORPHA:309271
Lipodystrophy, Congenital Generalized, Type 1	Clitoral hypertrophy, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, La...	OMIM:608594
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Failure to thrive, Megaloblastic anemia, Thrombocytopenia, Neutropenia, Jaundice	ORPHA:79282
Glycogen Storage Disease Ic	Cyclic neutropenia, Chronic pancreatitis, Hepatoblastoma, Hepatomegaly, Hepatocellular carcinoma	OMIM:232240
Meckel Syndrome, Type 1	Malformation of the hepatic ductal plate, Accessory spleen, Abnormality of the uterus, Abnormalit...	OMIM:249000
Rothmund-Thomson Syndrome	Aplastic anemia, Leukemia, Abnormal dental enamel morphology, Neutropenia, Anemia, Small for gest...	ORPHA:2909
Psoriasis 14, Pustular	Cholangitis, Leukocytosis, Neutrophilia	OMIM:614204
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Vasculitis, Bruising susceptibility, Leukocytosis, Splenomegaly, Orchitis, Peritonitis, Abnormal ...	ORPHA:32960
Phacoanaphylactic Uveitis	Retinal arteritis, Hyphema	ORPHA:209959
Incontinentia Pigmenti	Supernumerary nipple, Breast aplasia, Breast hypoplasia, Leukocytosis, Hypoplastic nipples, Eosin...	OMIM:308300
Diamond-Blackfan Anemia 1	Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Elevated red c...	OMIM:105650
Zygomycosis	Cellulitis, Brain abscess, Hepatitis, Fasciitis, Peritonitis, Pancreatitis, Splenic abscess, Neut...	ORPHA:73263
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Unilateral renal agenesis, Horseshoe kidney, Abnormal heart morphology, Transient ischemic attack...	ORPHA:500150
Hermansky-Pudlak Syndrome	Abnormal dental enamel morphology, Weight loss, Neutropenia	ORPHA:79430
Retinal Arteries, Tortuosity Of	Retinal hemorrhage	OMIM:180000
Wilson Disease	Acute hepatic failure, Hepatic steatosis, Cirrhosis, Elevated circulating alanine aminotransferas...	OMIM:277900
Rothmund-Thomson Syndrome Type 1	Aplastic anemia, Leukemia, Abnormal dental enamel morphology, Neutropenia, Anemia, Small for gest...	ORPHA:221008
Tubulointerstitial Nephritis And Uveitis Syndrome	Aminoaciduria, Normocytic anemia, Sterile pyuria, Beta 2-microglobulinuria, Decreased glomerular ...	ORPHA:91500
Neutral Lipid Storage Disease With Myopathy	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Chronic pancreatitis, Sp...	OMIM:610717
Cryptogenic Organizing Pneumonia	Weight loss, Leukocytosis, Neutrophilia	ORPHA:1302
Granulomatous Disease, Chronic, X-Linked	Lymphadenitis, Granuloma, Ascites, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granu...	OMIM:306400
Rothmund-Thomson Syndrome Type 2	Aplastic anemia, Leukemia, Abnormal dental enamel morphology, Neutropenia, Anemia, Small for gest...	ORPHA:221016
Intellectual Developmental Disorder, Autosomal Dominant 54	Small for gestational age, Neutropenia	OMIM:617799
Fundus Dystrophy, Pseudoinflammatory, Recessive Form	Retinal hemorrhage	OMIM:264420
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Renal hypoplasia, Splenomegaly	OMIM:612918
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Failure to thrive in infancy, Splenomegaly, Abscess, Neutrophilia, Hepatomegaly	OMIM:612852
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Aciduria, Hepatic failure, Elevated circulating hepatic transaminase concentration, Micronodular ...	OMIM:203700
Revesz Syndrome	Macrocytic anemia, Aplastic anemia, Neutropenia	OMIM:268130
Macular Degeneration, Age-Related, 1	Macular hemorrhage	OMIM:603075
Cockayne Syndrome	Unilateral renal agenesis, Renal hypoplasia, Elevated circulating hepatic transaminase concentrat...	ORPHA:191
Lethal Congenital Contracture Syndrome 5	Retinal hemorrhage, Subdural hemorrhage	OMIM:615368
Incontinentia Pigmenti	Congestive heart failure, Supernumerary nipple, Cerebral ischemia, Eosinophilia, Pulmonary arteri...	ORPHA:464
Granulomatosis With Polyangiitis	Retinal hemorrhage, Localized pulmonary hemorrhage, Diffuse alveolar hemorrhage, Granulomatosis	OMIM:608710
Selective Igm Deficiency	Cellulitis, Decreased proportion of transitional B cells, Cutaneous abscess, Fasciitis, Decreased...	ORPHA:331235
Hyperlipoproteinemia, Type I	Jaundice, Hepatosplenomegaly, Acute pancreatitis, Splenomegaly	OMIM:238600
Combined Immunodeficiency-Enteropathy Spectrum	Peritoneal abscess, Hepatitis, Autoimmune hemolytic anemia, Ventricular septal defect, Hypoplasia...	ORPHA:436252
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Large for gestational age, Transient neutropenia, Inguinal hernia, Camptodactyly, Chronic neutrop...	ORPHA:500095
3-Methylglutaconic Aciduria, Type Viii	Jaundice, Failure to thrive, Neutropenia	OMIM:617248
X-Linked Intellectual Disability, Nascimento Type	Recurrent cutaneous abscess formation, Neutropenia	ORPHA:163956
Sarcoidosis, Susceptibility To, 1	Abnormal salivary gland morphology, Pancytopenia, Pericardial effusion, Splenomegaly, Hypercalciu...	OMIM:181000
Hyperlipoproteinemia, Type Id	Hepatomegaly, Recurrent pancreatitis, Pancreatitis, Splenomegaly	OMIM:615947
Central Retinal Vein Occlusion	Retinal neovascularization, Intraretinal hemorrhage	ORPHA:411527
Rajab Interstitial Lung Disease With Brain Calcifications 1	Small scrotum, Elevated circulating hepatic transaminase concentration, Decreased liver function,...	OMIM:613658
Thauvin-Robinet-Faivre Syndrome	Large for gestational age, Transient neutropenia, Inguinal hernia	OMIM:617107
Glutaryl-Coa Dehydrogenase Deficiency	Chronic kidney disease, Glutaric aciduria, Retinal hemorrhage, Subdural hemorrhage	ORPHA:25
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Nephrocalcinosis, Cortical nephrocalcinosis, Ascites, Medullary nephroca...	ORPHA:51608
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Neutropenia	OMIM:271510
Pneumocystosis	Abnormal neutrophil count, Weight loss	ORPHA:723
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Ventricular septal defect, Bradycardia, Retinal hemorrhage, Tachycardia, Hypertension	OMIM:614653
Familial Drusen	Macular hemorrhage	ORPHA:75376
Sweet Syndrome	Leukocytosis, Chronic lymphatic leukemia, Acute myeloid leukemia, Sterile abscess, Neutrophilia, ...	ORPHA:3243
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Hepatitis, Lymphopenia, Hepatosplenomegaly, Autoimmune hemolytic anemia, B lymphocytopenia, Neutr...	ORPHA:391487
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hydrometrocolpos, Horseshoe kidney, Atrioventricular canal defect, Splenomegaly, Hepatomegaly, Va...	OMIM:617088
Familial Adenomatous Polyposis	Pituitary adenoma, Goiter, Pancreatic adenocarcinoma, Biliary tract obstruction, Hepatoblastoma, ...	ORPHA:733
Neurofibroma	Intestinal bleeding, Enlargement of parotid gland, Abnormal biliary tract morphology	ORPHA:252183
Aspartylglucosaminuria	Hernia, Vacuolated lymphocytes, Neutropenia, Hepatomegaly	OMIM:208400
Smith-Lemli-Opitz Syndrome	Multicystic kidney dysplasia, Clitoral hypertrophy, Atrioventricular canal defect, Abnormality of...	ORPHA:818
Johanson-Blizzard Syndrome	Clitoral hypertrophy, Cryptorchidism, Ventricular septal defect, Elevated circulating alanine ami...	OMIM:243800
Wolf-Hirschhorn Syndrome	Abdominal situs inversus, Abnormal heart valve morphology, Abnormality of the gallbladder, Crypto...	ORPHA:280
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Anemia, Atypical scarring of skin, Elevated circulating hepatic transaminase concentration, Neutr...	ORPHA:95455
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Subretinal pigment epithelium hemorrhage	ORPHA:357074
Sponastrime Dysplasia	Small for gestational age, Neutropenia	ORPHA:93357
Pierson Syndrome	Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis, Retinal hemorrhage, Nep...	OMIM:609049
Trichinellosis	Retinal hemorrhage	ORPHA:863
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Ischemic stroke, Corneal neovascularization, Cerebral hemorrhage, Retinal hemorrhage, Hemolytic a...	OMIM:175780
Sympathetic Ophthalmia	Retinal hemorrhage	ORPHA:79098

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 Neurl4

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Neurl4.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Neuralized-like protein 4 (NEURL4) mediates ADP-ribosylation of mitochondrial proteins.	The Journal of cell biology (February 2022)	Neurl4^tm1(KOMP)Mbp	PMC8932523

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MGI Allele	Allele Type	Produced
Neurl4^tm1(KOMP)Mbp	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Neurl4^{tm1(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Neurl4^em1(IMPC)Mbp	Inter-exon deletion	Mice, Tissue

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Neurl4 MGI:1921092

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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Human diseases caused by Neurl4 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data