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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
abnormal spleen morphology	Neurl4^em1(IMPC)Mbp	HOM	Late adult	0.00
small kidney	Neurl4^em1(IMPC)Mbp	HOM	Late adult	0.00
eye hemorrhage	Neurl4^em1(IMPC)Mbp	HOM	Late adult	1.76×10^-06
enlarged gallbladder	Neurl4^em1(IMPC)Mbp	HOM	Late adult	0.00
decreased heart weight	Neurl4^em1(IMPC)Mbp	HOM	Late adult	3.38×10^-05
decreased total body fat amount	Neurl4^em1(IMPC)Mbp	HOM	Early adult	7.51×10^-06
enlarged spleen	Neurl4^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal kidney morphology	Neurl4^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal liver morphology	Neurl4^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal eye morphology	Neurl4^em1(IMPC)Mbp	HOM	Late adult	0.00
small spleen	Neurl4^em1(IMPC)Mbp	HOM	Late adult	0.00
increased lean body mass	Neurl4^em1(IMPC)Mbp	HOM	Early adult	9.07×10^-06
absent seminal vesicle	Neurl4^em1(IMPC)Mbp	HOM	Late adult	0.00
decreased prepulse inhibition	Neurl4^em1(IMPC)Mbp	HOM	Early adult	4.41×10^-06
abnormal gallbladder morphology	Neurl4^em1(IMPC)Mbp	HOM	Late adult	0.00
decreased leukocyte cell number	Neurl4^em1(IMPC)Mbp	HOM	Late adult	2.80×10^-05
abnormal skin morphology	Neurl4^em1(IMPC)Mbp	HOM	Late adult	0.00
decreased neutrophil cell number	Neurl4^em1(IMPC)Mbp	HOM	Early adult	5.14×10^-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 Dorso Ventral

54 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 Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

18 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 (757 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
Thrombocytopenia, Cyclic	Thrombocytopenia, Neutropenia, Cyclic neutropenia	OMIM:188020
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia	OMIM:618310
Cyclic Neutropenia	Neutropenia, Cyclic neutropenia	OMIM:162800
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Neutropenia, Hepatomegaly, Thrombocytopenia, Leukopenia, Splenomega...	OMIM:615285
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Cholelithiasis, Jaundice, Anemia of inadequate production, Splenomegaly	OMIM:224100
Fetal Cytomegalovirus Syndrome	Hepatomegaly, Anemia, Splenomegaly	ORPHA:294
Alpha-Thalassemia	Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Anemia, Splenomegaly, Hypersplenis...	ORPHA:846
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Marburg Hemorrhagic Fever	Abnormal bleeding, Hematuria, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Subconj...	ORPHA:99826
Beta-Thalassemia	Microcytic anemia, Cholelithiasis, Thrombocytopenia, Hepatomegaly, Hepatitis, Anemia, Splenomegal...	ORPHA:848
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Neutropenia, Failure to thrive	OMIM:616022
Kaposiform Lymphangiomatosis	Abnormal bleeding, Multiple renal cysts, Epidural hemorrhage, Enlarged kidney, Pancreatic cysts, ...	ORPHA:464329
Neutropenia, Severe Congenital, X-Linked	Neutropenia	OMIM:300299
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Nonspherocytic hemolytic anemia, Cholecystitis, Impaired neutrophil bactericidal activity, Cholel...	OMIM:613470
Erythrocytosis, Familial, 8	Nonspherocytic hemolytic anemia, Cholecystitis, Polycythemia, Cholelithiasis, Normocytic anemia, ...	OMIM:222800
Sickle Cell Anemia	Hemolytic anemia, Hematuria, Leukocytosis, Cholelithiasis, Hypertension, Hepatomegaly, Jaundice, ...	OMIM:603903
Congenital Bile Acid Synthesis Defect Type 3	Elevated hepatic transaminase, Gastrointestinal hemorrhage, Neonatal cholestatic liver disease, B...	ORPHA:79302
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Nonspherocytic hemolytic anemia, Reticulocytosis, Cholecystitis, Cholelithiasis, Normocytic anemi...	OMIM:235700
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Immunodeficiency 50	Lymphopenia, Neutropenia	OMIM:300988
Protoporphyria, Erythropoietic, X-Linked	Iron deficiency anemia, Elevated hepatic transaminase, Cholelithiasis	OMIM:300752
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A...	OMIM:202700
Beta-Thalassemia Intermedia	Persistence of hemoglobin F, Jaundice, Decreased liver function, High-output congestive heart fai...	ORPHA:231222
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Nonspherocytic hemolytic anemia, Jaundice, Elevated urinary delta-aminolevulinic acid, Splenomegaly	OMIM:206400
Congenital Bile Acid Synthesis Defect Type 2	Abnormal bleeding, Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, ...	ORPHA:79303
Agammaglobulinemia 7, Autosomal Recessive	Neutropenia	OMIM:615214
Neutropenia, Lethal Congenital, With Eosinophilia	Neutropenia, Eosinophilia	OMIM:257100
Agammaglobulinemia 3, Autosomal Recessive	Neutropenia, Failure to thrive	OMIM:613501
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Cholelithiasis, Jaundice, Splenomegaly, Spherocytosis	OMIM:182900
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations	Lymphopenia, Neutropenia	OMIM:614868
Hyperbiliverdinemia	Green urine, Decreased liver function, Cholelithiasis, Cholestasis	OMIM:614156
Apolipoprotein A-I Deficiency	Lymphadenopathy, Abnormality of the liver, Anemia, Splenomegaly	ORPHA:425
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Increased red cell hemolysi...	OMIM:194380
Trimethylaminuria	Neutropenia, Hypertension, Tachycardia, Anemia, Splenomegaly, Trimethylaminuria	OMIM:602079
Caroli Disease	Cirrhosis, Leukocytosis, Intrahepatic cholestasis, Biliary cirrhosis, Elevated circulating alanin...	ORPHA:53035
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Reticulocytosis, Cholecystitis, Cholelithiasis, Jaundice, Splenomegaly	OMIM:266200
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
Specific Granule Deficiency 2	Absent neutrophil specific granules, Neutropenia, Thrombocytopenia, Failure to thrive, Anemia	OMIM:617475
Hypereosinophilic Syndrome, Idiopathic	Restrictive cardiomyopathy, Hepatomegaly, Endocardial fibrosis, Splenomegaly, Myeloproliferative ...	OMIM:607685
Neutrophilia, Hereditary	Neutrophilia, Hepatosplenomegaly	OMIM:162830
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly	ORPHA:46532
Congenital Bile Acid Synthesis Defect Type 1	Abnormal bleeding, Cirrhosis, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Neonata...	ORPHA:79301
Benign Recurrent Intrahepatic Cholestasis	Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Cholelithiasis, Jaundice, Cho...	ORPHA:65682
Glycogen Storage Disease Xii	Nonspherocytic hemolytic anemia, Cholelithiasis, Normocytic anemia, Jaundice, Normochromic anemia...	OMIM:611881
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Hemorrhagic Fever-Renal Syndrome	Arrhythmia, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Leukocytosis, Intracrania...	ORPHA:340
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Neutropenia	ORPHA:90023
Ras-Associated Autoimmune Leukoproliferative Disorder	Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Hepatomeg...	OMIM:614470
Gcgr-Related Hyperglucagonemia	Neoplasm of the pancreas, Abnormal biliary tract morphology, Cholelithiasis	ORPHA:438274
Neutropenia, Chronic Familial	Neutropenia	OMIM:162700
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio	OMIM:613978
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly	OMIM:183350
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive	Hepatomegaly, T lymphocytopenia, Lymphadenopathy, Splenomegaly	OMIM:608971
Gallbladder Disease 1	Elevated hepatic transaminase, Cholesterol gallstones, Cholelithiasis, Hepatic fibrosis, Jaundice...	OMIM:600803
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Neutropenia, Hepatomegaly, Jaundice, Thrombocytopenia, Anemia, Splenomegaly	OMIM:603552
Sickle Cell Anemia	Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a...	ORPHA:232
Hemochromatosis, Type 2B	Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Congestive heart failure, Anemia, Splenom...	OMIM:613313
Dehydrated Hereditary Stomatocytosis	Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Hemolytic anemia, Increased ...	ORPHA:3202
Acquired Idiopathic Sideroblastic Anemia	Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment...	ORPHA:75564
Nephronophthisis 19	Nephronophthisis, Cholestasis, Hepatic fibrosis, Hepatomegaly, Stage 5 chronic kidney disease, Sp...	OMIM:616217
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal bleeding, Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Biliary Atresia, Extrahepatic	Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Extrahepatic biliary duct atresia,...	OMIM:210500
Glycogen Storage Disease Vii	Hemolytic anemia, Reticulocytosis, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Chol...	OMIM:232800
Mantle Cell Lymphoma	Lymphadenopathy, Splenomegaly	ORPHA:52416
Autosomal Erythropoietic Protoporphyria	Cirrhosis, Decreased liver function, Cholelithiasis, Microcytic anemia	ORPHA:79278
Gray Platelet Syndrome	Abnormal bleeding, Epistaxis, Thrombocytopenia, Splenomegaly, Bruising susceptibility	ORPHA:721
Hereditary Spherocytosis	Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Restrictive cardiomyopathy,...	ORPHA:822
Sea-Blue Histiocyte Disease	Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly	OMIM:269600
Tyrosinemia Type 1	Generalized aminoaciduria, Hepatocellular carcinoma, Acute hepatic failure, Hepatomegaly, Splenom...	ORPHA:882
Immunodeficiency 48	Hepatomegaly, Splenomegaly	OMIM:269840
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti...	ORPHA:444463
Gallbladder Disease 4	Cholelithiasis	OMIM:611465
Hereditary Elliptocytosis	Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Abnormal erythrocyte morpholog...	ORPHA:288
Cholestasis With Gallstone, Ataxia, And Visual Disturbance	Jaundice, Cholelithiasis, Giant cell hepatitis	OMIM:214980
Immunodeficiency 21	Myeloid leukemia, Monocytopenia, Abnormal natural killer cell morphology, Lymphopenia, Neutropeni...	OMIM:614172
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia	ORPHA:231401
Amyloidosis, Familial Visceral	Hematuria, Nephropathy, Cholestasis, Hepatomegaly, Hypertension, Nephrotic syndrome, Splenomegaly...	OMIM:105200
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Hepatomegaly, Anemia, Splenomega...	OMIM:133180
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Protoporphyria, Erythropoietic, 1	Hepatic failure, Hemolytic anemia, Cholelithiasis	OMIM:177000
Anemia, Congenital Dyserythropoietic, Type Iv	Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Splenomegaly, Anemia, Anemia of inadequate ...	OMIM:613673
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly	OMIM:618495
Fanconi Anemia, Complementation Group G	Thrombocytopenia, Leukemia, Neutropenia, Anemia	OMIM:614082
Immunodeficiency 47	Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jau...	OMIM:300972
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Hereditary Hemorrhagic Telangiectasia	Conjunctival telangiectasia, Hematuria, Pulmonary embolism, Retinal telangiectasia, Cerebral hemo...	ORPHA:774
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Congenital Alveolar Capillary Dysplasia	Pulmonary valve atresia, Atrial septal defect, Ventricular septal defect, Atrioventricular canal ...	ORPHA:210122
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu...	OMIM:619041
Triosephosphate Isomerase Deficiency	Chronic hemolytic anemia, Hemolytic anemia, Cholelithiasis, Normocytic anemia, Jaundice, Normochr...	OMIM:615512
Cholestasis, Benign Recurrent Intrahepatic, 2	Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholelithiasis	OMIM:605479
Hemochromatosis, Type 3	Cirrhosis, Elevated hepatic transaminase, Lymphopenia, Neutropenia, Anemia	OMIM:604250
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hepatomegaly, Splenomegaly	OMIM:614480
Galactosemia Iii	Aminoaciduria, Hepatomegaly, Jaundice, Galactosuria, Splenomegaly	OMIM:230350
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Splenomegaly, Anemia of inadequat...	OMIM:237800
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hypochromia, Azoospermia, Hepatomegaly, Hypogonadism, Anemia, Splenomegaly, Decreased mean corpus...	OMIM:615234
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Biliary hyperplasia, Cholelithiasis,...	ORPHA:567983
Myotonic Dystrophy 1	Atrial flutter, Atrial fibrillation, Cholelithiasis, Testicular atrophy, First degree atrioventri...	OMIM:160900
Isolated Biliary Atresia	Cirrhosis, Dark yellow urine, Elevated hepatic transaminase, Atretic gallbladder, Prolonged proth...	ORPHA:30391
Galactose Epimerase Deficiency	Hepatomegaly, Jaundice, Aminoaciduria, Splenomegaly	ORPHA:79238
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Neutropenia	OMIM:610798
Cholestasis-Lymphedema Syndrome	Abnormality of urine homeostasis, Cirrhosis, Gastrointestinal hemorrhage, Neonatal cholestatic li...	ORPHA:1414
Mu-Heavy Chain Disease	Nephropathy, Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Anemia, Splenomegaly, ...	ORPHA:100024
Hemochromatosis, Type 2A	Cirrhosis, Arrhythmia, Azoospermia, Hepatomegaly, Congestive heart failure, Splenomegaly, Dilated...	OMIM:602390
Refractory Anemia	Erythroid hypoplasia, Neutropenia, Normocytic anemia, Thrombocytopenia, Normochromic anemia, Anem...	ORPHA:98826
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Elevated hepatic transaminase, Exocrine pancreatic insufficiency, Neutropenia	OMIM:618752
Glutathione Synthetase Deficiency	Hemolytic anemia, Neutropenia	OMIM:266130
Immunodeficiency 16	Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly	OMIM:615593
Coproporphyria, Hereditary	Hypertension, Hepatomegaly, Jaundice, Tachycardia, Splenomegaly, Increased urinary porphobilinoge...	OMIM:121300
Hyperlipoproteinemia, Type Id	Hepatomegaly, Splenomegaly	OMIM:615947
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Aminoaciduria, Splenomegaly	ORPHA:417
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive	Vitreous hemorrhage, Pulmonary embolism, Purpura	OMIM:612304
Polycythemia Vera	Thrombocytosis, Increased hematocrit, Gastrointestinal hemorrhage, Leukocytosis, Budd-Chiari synd...	OMIM:263300
Immunodeficiency 46	Failure to thrive, Intermittent thrombocytopenia, Neutropenia, Anemia	OMIM:616740
Microgastria-Limb Reduction Defects Association	Cryptorchidism, Horseshoe kidney, Type I truncus arteriosus, Cystic renal dysplasia, Secundum atr...	OMIM:156810
Mirizzi Syndrome	Elevated hepatic transaminase, Gallbladder perforation, Cholesterol gallstones, Dark urine, Chole...	ORPHA:521219
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Splen...	OMIM:602347
3-Methylglutaconic Aciduria, Type Vii	Neutropenia	OMIM:616271
Sandhoff Disease	Hepatomegaly, Congestive heart failure, Splenomegaly	ORPHA:796
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Neutropenia, Pancytopenia, Thrombocytopenia, Hypoplastic anemia, A...	OMIM:159550
Felty Syndrome	Neutropenia, Splenomegaly	OMIM:134750
Retinal Venous Beading	Retinal neovascularization, Nephritis, Neutropenia, Vitreous hemorrhage	OMIM:180080
Autoimmune Hemolytic Anemia, Cold Type	Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly	ORPHA:228312
Leukocyte Adhesion Deficiency, Type Iii	Abnormal bleeding, Leukocytosis, Extramedullary hematopoiesis, Epistaxis, Hepatomegaly, Petechiae...	OMIM:612840
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Hypogonadism, Cardiomyopathy, Splenomegaly	OMIM:608540
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hepatomegaly, Splenomegaly	OMIM:618541
Peroxisome Biogenesis Disorder 12A (Zellweger)	Atrial septal defect, Elevated hepatic transaminase, Cholelithiasis, Double outlet right ventricl...	OMIM:614886
Immunodeficiency 69	Thrombocytosis, Leukocytosis, Pancytopenia, Anemia, Splenomegaly, Hepatosplenomegaly	OMIM:618963
Primary Sclerosing Cholangitis	Jaundice, Palmar telangiectasia, Renal insufficiency, Cirrhosis, Acute hepatic failure, Abnormal ...	ORPHA:171
Lymphoproliferative Syndrome, X-Linked, 1	Lymphocytosis, Hemophagocytosis, Neutropenia, Hepatomegaly, Pancytopenia, Thrombocytopenia, Fulmi...	OMIM:308240
Pancreatic Colipase Deficiency	Megaloblastic anemia, Exocrine pancreatic insufficiency, Cholelithiasis	ORPHA:309108
Sialuria	Elevated hepatic transaminase, Cholelithiasis, Hepatomegaly, Hepatosplenomegaly, Prolonged prothr...	ORPHA:3166
Babesiosis	Hemolytic anemia, Thrombocytopenia, Jaundice, Hepatomegaly, Myocardial infarction, Congestive hea...	ORPHA:108
Lcat Deficiency	Hemolytic anemia, Hematuria, Hypertension, Hepatomegaly, Splenomegaly, Renal insufficiency, Lymph...	ORPHA:650
Retinal Capillary Malformation	Vitreous hemorrhage, Hyphema	ORPHA:71213
Red Cell Phospholipid Defect With Hemolysis	Reticulocytosis, Intermittent jaundice, Splenomegaly	OMIM:179700
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy	OMIM:618852
Agammaglobulinemia 4, Autosomal Recessive	Neutropenia	OMIM:613502
Immunodeficiency 76	T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly, Lymphadenopathy	OMIM:619164
Retinopathy Of Prematurity	Vitreous hemorrhage	ORPHA:90050
Transcobalamin Deficiency	Thrombocytopenia, Lymphopenia, Pancytopenia, Neutropenia	ORPHA:859
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Male hypogonadism, Chronic active hepatitis, Cholelithiasis, Female hypogonadism, Asplenia, Nephr...	OMIM:240300
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	T lymphocytopenia, Restrictive cardiomyopathy, Impaired lymphocyte transformation with phytohemag...	OMIM:619313
Autoimmune Lymphoproliferative Syndrome, Type Iii	Decreased proportion of class-switched memory B cells, Elevated circulating aspartate aminotransf...	OMIM:615559
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Ventricular septal defect, Pericardial effusion, Cholelithiasis, Thrombocytopenia, Normochromic a...	OMIM:618775
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Bone-marrow foam cells, Splenomegaly, Hepatomegaly	OMIM:607616
Immunodeficiency 52	Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Lymphopenia, Increased proportion ...	OMIM:617514
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Neutropenia, Hepatomegaly, Thrombocytopenia, Splenomegaly, Anemia, Pancreatitis, Failure to thrive	ORPHA:79312
Alpha-Heavy Chain Disease	Hepatomegaly, Ascites, Anemia, Splenomegaly, Premature ovarian insufficiency, Lymphadenopathy	ORPHA:100025
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy	ORPHA:66661
Thrombocytopenia With Beta-Thalassemia, X-Linked	Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Epistaxis, Thrombocytopenia, Petechia...	OMIM:314050
Sclerosing Cholangitis, Neonatal	Cirrhosis, Elevated hepatic transaminase, Sclerosing cholangitis, Biliary cirrhosis, Cholestasis,...	OMIM:617394
Thrombocytopenia 5	Thrombocytopenia, Neutropenia, Anemia	OMIM:616216
Renal-Hepatic-Pancreatic Dysplasia 1	Cirrhosis, Atrial septal defect, Enlarged kidney, Hepatic cysts, Pancreatic cysts, Polysplenia, B...	OMIM:208540
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:617068
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Neutropenia	OMIM:610738
Bile Acid Synthesis Defect, Congenital, 5	Iron deficiency anemia, Elevated hepatic transaminase, Portal hypertension, Hepatomegaly, Jaundic...	OMIM:616278
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	T lymphocytopenia, Monocytopenia, Cellulitis, Lymphopenia, Abnormally low T cell receptor excisio...	OMIM:618986
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anisocytosis, Anemia of inadequat...	OMIM:615631
Combined Saposin Deficiency	Hepatomegaly, Splenomegaly	OMIM:611721
Pentalogy Of Cantrell	Atrial septal defect, Ventricular septal defect, Polysplenia, Abnormal pericardium morphology, Te...	ORPHA:1335
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomega...	OMIM:150550
Neonatal Lupus Erythematosus	Abnormal bleeding, Heart block, Hemolytic anemia, Elevated hepatic transaminase, Abnormal electro...	ORPHA:398124
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphology, Neutropenia, Thrombocytope...	OMIM:300835
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Jaundice, Splenomegaly, Cholestasis	ORPHA:172
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Erythroid hypoplasia, Monocytosis, Cryptorchidism, Atrial septal defect, Lymphopenia, Neutropenia...	OMIM:612541
Cholestasis-Lymphedema Syndrome	Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Hepatomegaly, Jaund...	OMIM:214900
Slc35A1-Cdg	Cellulitis, Neutropenia, Thrombocytopenia, Giant platelets, Abnormal platelet granules	ORPHA:238459
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Lymphadenopathy, Splenomegaly	ORPHA:86893
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Gastrointestinal hemorrhage, Hematemesis, Intracranial hemorrhage, Muscle hemorrhage, Hematochezi...	ORPHA:464321
Martinez-Frias Syndrome	Extrahepatic biliary duct atresia, Pancreatic hypoplasia, Hypospadias, Annular pancreas, Hypoplas...	OMIM:601346
Leptospirosis	Pulmonary hemorrhage, Elevated serum transaminases during infections, Arrhythmia, Acute kidney in...	ORPHA:509
Hemochromatosis, Type 1	Cirrhosis, Arrhythmia, Azoospermia, Elevated hepatic transaminase, Hepatocellular carcinoma, Hepa...	OMIM:235200
Nphp3-Related Meckel-Like Syndrome	Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphol...	ORPHA:3032
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Lymphocytosis, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Autoimmune thromb...	ORPHA:169154
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Neutropenia, Hepatomegaly, Thrombocytopenia, Anemia, Pancreatitis	ORPHA:289916
Generalized Pseudohypoaldosteronism Type 1	Recurrent tonsillitis, Hypovolemic shock, Cholelithiasis, Arrhythmia	ORPHA:171876
Distal Trisomy 5Q	Cryptorchidism, Ventricular septal defect, Aplasia/Hypoplasia of the gallbladder, Dextrocardia, H...	ORPHA:96097
Immunodeficiency 14A, Autosomal Dominant	Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased proportion of...	OMIM:615513
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic fibrosis, Hepatomegaly, Hepatic failure, Splenomegaly	OMIM:616719
Autoimmune Lymphoproliferative Syndrome, Type Iia	Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD...	OMIM:603909
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Hypochromia, Elevated hepatic transaminase, Erythroid hyperplasia, Hepatomegaly, Jaund...	OMIM:616860
Congenital Disorder Of Glycosylation, Type Iio	Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Prolonged neonatal jaundice, Cholestatic ...	OMIM:616828
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia	OMIM:619302
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Autoimmu...	OMIM:619375
Sea-Blue Histiocytosis	Abnormal bleeding, Thrombocytopenia, Sea-blue histiocytosis, Hepatomegaly, Petechiae, Splenomegal...	ORPHA:158029
Folate Malabsorption, Hereditary	Folate-responsive megaloblastic anemia, Neutropenia, Thrombocytopenia, Failure to thrive, Leukopenia	OMIM:229050
Diamond-Blackfan Anemia 8	Increased mean corpuscular volume, Neutropenia, Macrocytic anemia	OMIM:612563
Griscelli Syndrome Type 2	Hemophagocytosis, Neutropenia, Hepatomegaly, Jaundice, Pancytopenia, Splenomegaly	ORPHA:79477
Immunodeficiency 55	Neutropenia	OMIM:617827
Deafness-Lymphedema-Leukemia Syndrome	Myeloproliferative disorder, Prolonged bleeding time, Leukocytosis, Intracranial hemorrhage, Brui...	ORPHA:3226
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Macrocytic anemia, Neutropenia, Reticulocytopenia	OMIM:612527
Meckel Syndrome, Type 7	Atrial septal defect, Situs inversus totalis, Pancreatic cysts, Biliary cirrhosis, Cholestasis, M...	OMIM:267010
Splenoportal Vascular Anomalies	Cirrhosis, Hepatic fibrosis, Anomalous splenoportal venous system, Ascites, Splenomegaly	OMIM:271500
Infantile Sialic Acid Storage Disease	Vacuolated lymphocytes, Hepatomegaly, Splenomegaly, Congestive heart failure, Cardiomegaly, Ascit...	OMIM:269920
Caroli Syndrome	Melena, Jaundice, Hypersplenism, Leukopenia, Cirrhosis, Intrahepatic cholestasis, Thrombocytopeni...	ORPHA:480520
Lysosomal Acid Lipase Deficiency	Bone-marrow foam cells, Cirrhosis, Elevated circulating aspartate aminotransferase concentration,...	OMIM:278000
Autoimmune Lymphoproliferative Syndrome	Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD...	OMIM:601859
Pelger-Huet Anomaly	Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Neutropenia, Umbilical hernia,...	OMIM:169400
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Abnormality of the ureter, Splenomegaly, Ascites, Anemia, Hypoplasia of penis, Hypospadias	ORPHA:1046
Pontocerebellar Hypoplasia, Type 14	Thrombocytopenia, Chronic neutropenia	OMIM:619301
Immunodeficiency 67	Transient neutropenia, Liver abscess	OMIM:607676
Barth Syndrome	Granulocytopenia, Neutropenia, Failure to thrive	OMIM:302060
Wolfram Syndrome, Mitochondrial Form	Megaloblastic anemia, Thrombocytopenia, Neutropenia, Sideroblastic anemia	OMIM:598500
Aggressive Systemic Mastocytosis	Increased proportion of CD25+ mast cells, Leukocytosis, Neutropenia, Weight loss, Pancytopenia, T...	ORPHA:98850
8P Inverted Duplication/Deletion Syndrome	Cryptorchidism, Abnormal heart morphology, Aplasia/Hypoplasia of the gallbladder, Dextrocardia, H...	ORPHA:96092
Schnitzler Syndrome	Leukocytosis, Hepatomegaly, Anemia, Splenomegaly, Vasculitis, Lymphadenopathy	ORPHA:37748
Ppoma	Increased circulating gonadotropin level, Elevated circulating growth hormone concentration, Extr...	ORPHA:97278
Leishmaniasis	Abnormal bleeding, Elevated hepatic transaminase, Abnormal macrophage morphology, Pancytopenia, T...	ORPHA:507
Gaucher Disease Type 2	Hepatomegaly, Cardiac arrest, Splenomegaly	ORPHA:77260
Gaucher Disease Type 1	Cirrhosis, Hematuria, Pericardial effusion, Pulmonary arterial hypertension, Biliary tract obstru...	ORPHA:77259
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Prolonged neonatal j...	OMIM:224120
Glycogen Storage Disease Ixc	Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation	OMIM:613027
Primary Myelofibrosis	Poikilocytosis, Ecchymosis, Abnormal bleeding, Thrombocytosis, Purpura, Leukocytosis, Extramedull...	ORPHA:824
Hurler-Scheie Syndrome	Abnormal heart valve morphology, Hepatomegaly, Splenomegaly, Abnormality of the tonsils, Cardiomy...	ORPHA:93476
Aicardi-Goutieres Syndrome 7	Thrombocytopenia, Hepatomegaly, Splenomegaly, Nephrotic syndrome, Vasculitis	OMIM:615846
Grfoma	Increased circulating gonadotropin level, Elevated circulating growth hormone concentration, Extr...	ORPHA:97261
Adult Idiopathic Neutropenia	Monocytosis, Monocytopenia, Neutropenia, Lymphopenia	ORPHA:2688
Idiopathic Aplastic Anemia	Neutropenia, Epistaxis, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Retinal hemorrhage, Gi...	ORPHA:88
Isolated Splenogonadal Fusion	Hydrocele testis, Abnormality of the scrotum, Abnormal penis morphology, Polysplenia, Bilateral c...	ORPHA:457083
Glycosylphosphatidylinositol Biosynthesis Defect 1	Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Harderoporphyria	Hemolytic anemia, Reticulocytosis, Prolonged neonatal jaundice, Hepatomegaly, Increased urinary p...	OMIM:618892
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Erythrocytosis, Familial, 1	Increased hematocrit, Increased hemoglobin, Hypertension, Increased red blood cell mass, Myocardi...	OMIM:133100
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Congenital hemolytic ...	ORPHA:766
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Thrombocytopenia, Hepatomegaly, Petechiae, Anemia, Splenomegaly, Hepatosplenomegaly	OMIM:611490
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Hepatomegaly, Neutropenia, Microcytic anemia	OMIM:251900
Mitchell-Riley Syndrome	Annular pancreas, Biliary atresia, Cholestasis, Pancreatic hypoplasia, Absent gallbladder, Acholi...	OMIM:615710
Immunodeficiency 64	Abnormal CD4:CD8 ratio, Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimm...	OMIM:618534
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Renal insufficiency, Tubulointerstitial fibrosis, Enlarged kidney, Hepatic cysts, Periportal fibr...	OMIM:263200
Agammaglobulinemia 1, Autosomal Recessive	B lymphocytopenia, Neutropenia, Failure to thrive	OMIM:601495
Aicardi-Goutieres Syndrome 4	Elevated hepatic transaminase, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Hepato...	OMIM:610333
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Thrombocytopenia, Anemia, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy	OMIM:613101
Mirage Syndrome	Cryptorchidism, Microphallus, Intracranial hemorrhage, Hypergonadotropic hypogonadism, Lymphopeni...	OMIM:617053
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Autoimmune thrombocytopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD4:C...	OMIM:300853
Retinoschisis 1, X-Linked, Juvenile	Vitreous hemorrhage	OMIM:312700
Ataxia-Pancytopenia Syndrome	Abnormality of neutrophils, Abnormal macrophage morphology, Acute myelomonocytic leukemia, Hypopl...	ORPHA:2585
Microcephalic Primordial Dwarfism, Toriello Type	Enamel hypoplasia, Neutropenia	ORPHA:2643
Spinocerebellar Ataxia, Autosomal Recessive 23	Neutropenia	OMIM:616949
Neuraminidase Deficiency	Bone-marrow foam cells, Vacuolated lymphocytes, Hepatomegaly, Urinary excretion of sialylated oli...	OMIM:256550
Immunodeficiency By Defective Expression Of Mhc Class Ii	Chronic hepatitis due to cryptosporidium infection, T lymphocytopenia, Abnormal CD4:CD8 ratio, Au...	ORPHA:572
Reticular Dysgenesis	Congenital agranulocytosis, Lymphopenia, Leukopenia, Hypoplasia of the thymus	OMIM:267500
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Stomatocytosis, Prolonged bleeding after dental extraction, Increased mean plat...	OMIM:153670
Hodgkin Lymphoma	Hepatomegaly, Lymphadenopathy, Splenomegaly	ORPHA:98293
Dubin-Johnson Syndrome	Jaundice, Biliary tract abnormality	OMIM:237500
Autosomal Dominant Severe Congenital Neutropenia	Monocytosis, Cellulitis, Lymphopenia, Leukemia, Neutropenia, Acute myeloid leukemia, Aplastic ane...	ORPHA:486
Microphthalmia, Syndromic 9	Cryptorchidism, Atrial septal defect, Horseshoe kidney, Single ventricle, Truncus arteriosus, Ven...	OMIM:601186
Cystic Echinococcosis	Ovarian cyst, Peritoneal abscess, Elevated hepatic transaminase, Abnormal heart morphology, Hepat...	ORPHA:400
Immunodeficiency With Hyper-Igm, Type 3	Neutropenia	OMIM:606843
Immunodeficiency With Hyper-Igm, Type 1	Cirrhosis, Hemolytic anemia, Sclerosing cholangitis, Neutropenia, Hepatomegaly, Chronic hepatitis...	OMIM:308230
Transaldolase Deficiency	Micronodular cirrhosis, Cirrhosis, Atrial septal defect, Ventricular septal defect, Pancytopenia,...	OMIM:606003
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic steatosis, Cholestasis, Hepatit...	ORPHA:209902
Cryoglobulinemic Vasculitis	Vasculitis, Hematuria, Gastrointestinal hemorrhage, Purpura, Viral hepatitis, Hepatomegaly, Petec...	ORPHA:91138
Osteopetrosis, Autosomal Recessive 8	Thrombocytopenia, Splenomegaly, Anemia, Hepatomegaly	OMIM:615085
Lymphoproliferative Syndrome, X-Linked, 2	Hemophagocytosis, Pancytopenia, Hepatomegaly, Hepatitis, Aplastic anemia, Splenomegaly	OMIM:300635
X-Linked Agammaglobulinemia	Cellulitis, Neutropenia, Weight loss, Thrombocytopenia, Hepatitis, Recurrent cutaneous abscess fo...	ORPHA:47
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop...	OMIM:619220
Lymphoproliferative Syndrome 1	Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased proportion of CD4-positive he...	OMIM:613011
Hb Bart'S Hydrops Fetalis	Pericarditis, Hepatomegaly, Congestive heart failure, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Cholesteryl Ester Storage Disease	Cirrhosis, Hepatomegaly, Jaundice, Hepatic failure, Splenomegaly	ORPHA:75234
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Indolent Systemic Mastocytosis	Increased proportion of CD25+ mast cells, Hepatomegaly, Splenomegaly, Abnormal mast cell morpholo...	ORPHA:98848
Congenital Pulmonary Lymphangiectasia	Tricuspid regurgitation, Hepatomegaly, Pulmonic stenosis, Congestive heart failure, Ascites, Sple...	ORPHA:2414
Fanconi Anemia, Complementation Group V	Thrombocytopenia, Neutropenia, Anemia	OMIM:617243
Microcephalic Primordial Dwarfism, Toriello Type	Enamel hypoplasia, Neutropenia	OMIM:251190
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Thrombocytopenia, Hep...	OMIM:304790
Immunodeficiency 27A	Thrombocytosis, Leukocytosis, Histiocytosis, Anemia, Splenomegaly, Enlarged mesenteric lymph node...	OMIM:209950
Whim Syndrome 1	Neutropenia	OMIM:193670
Niemann-Pick Disease Type B	Abnormal bleeding, Cirrhosis, Autoimmune thrombocytopenia, Abnormal heart valve morphology, Acute...	ORPHA:77293
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Hepatomeg...	OMIM:616689
3-Methylglutaconic Aciduria, Type Viii	Neutropenia	OMIM:617248
Retinitis Pigmentosa 89	Micronodular cirrhosis, Hepatic fibrosis, Intrahepatic bile duct dilatation, Bicuspid aortic valv...	OMIM:618955
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Pink urine, Cholelithiasis, Thrombocytopenia, Splenomegaly	OMIM:263700
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Hepat...	OMIM:613812
Fish-Eye Disease	Hepatomegaly, Angina pectoris, Lymphadenopathy, Splenomegaly	ORPHA:79292
Chronic Myeloid Leukemia	Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro...	ORPHA:521
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Thrombocytopenia, Congenital thrombocytopenia, Neutropenia, Anemia	OMIM:616738
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Azoospermia, Spontaneous, recurrent epistaxis, Mitral valve calcification, Cholelithiasis, Pancyt...	ORPHA:2072
Lathosterolosis	Horseshoe kidney, Elevated hepatic transaminase, Ambiguous genitalia, male, Intrahepatic cholesta...	OMIM:607330
Lymphoproliferative Syndrome 2	Hemophagocytosis, Pancytopenia, Hepatomegaly, Aplastic anemia, Ascites, Splenomegaly, Hepatosplen...	OMIM:615122
X-Linked Sideroblastic Anemia	Elevated hepatic transaminase, Anemia, Splenomegaly	ORPHA:75563
Autoimmune Hemolytic Anemia	Arrhythmia, Abnormal urinary color, Hemolytic anemia, Congestive heart failure, Splenomegaly, Abn...	ORPHA:98375
Combined Immunodeficiency Due To Partial Rag1 Deficiency	T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod...	ORPHA:231154
Immunodeficiency, Common Variable, 1	Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ...	OMIM:607594
Dysplastic Cortical Hyperostosis	Hepatomegaly, Splenomegaly	ORPHA:2204
Farber Lipogranulomatosis	Hepatomegaly, Lipogranulomatosis, Splenomegaly	OMIM:228000
Developmental And Epileptic Encephalopathy 66	Neutropenia, Anemia	OMIM:618067
Gaucher Disease, Type I	Epistaxis, Hypertension, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Aortic valve...	OMIM:230800
Follicular Lymphoma	Mediastinal lymphadenopathy, Abnormality of the peritoneum, Lymphadenopathy, Splenomegaly	ORPHA:545
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Cryptorchidism, Atrial septal defect, Ventricular septal defect, Intracranial hemorrhage, Thrombo...	ORPHA:163979
Omenn Syndrome	Severe B lymphocytopenia, Thrombocytopenia, Hypoplasia of the thymus, Hepatomegaly, Eosinophilia,...	OMIM:603554
Congenital Enterovirus Infection	Leukocytosis, Abnormal macrophage morphology, Neutropenia, Cholestasis, Thrombocytopenia, Hepatit...	ORPHA:292
Felty Syndrome	Cellulitis, Abnormal lymphocyte morphology, Neutropenia, Weight loss, Hepatomegaly, Thrombocytope...	ORPHA:47612
Aregenerative Anemia	Erythroid hypoplasia, Fatigable weakness of skeletal muscles, Decreased proportion of CD4-positiv...	ORPHA:101096
Autosomal Agammaglobulinemia	Cellulitis, Hepatitis, Neutropenia, Failure to thrive	ORPHA:33110
Cimdag Syndrome	Hepatomegaly, Hypogonadism, Microvesicular hepatic steatosis, Cholelithiasis	OMIM:619273
Budd-Chiari Syndrome	Peritonitis, Cirrhosis, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Cholecystitis...	ORPHA:131
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatomegaly, Jaundice, Splenomegaly	OMIM:211600
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume	OMIM:618849
Classic Mycosis Fungoides	Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy, Splenomegaly	ORPHA:2584
Disorder Of Bile Acid Synthesis	Abnormal bleeding, Elevated hepatic transaminase, Biliary tract abnormality, Cholestasis, Abnorma...	ORPHA:79168
Trichohepatoneurodevelopmental Syndrome	Cholelithiasis, Hepatomegaly, Hypoplastic nipples, Decreased liver function, Splenomegaly	OMIM:618268
Waldenström Macroglobulinemia	Gastrointestinal hemorrhage, Purpura, Abnormality of neutrophils, Epistaxis, Normocytic anemia, H...	ORPHA:33226
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Cholestasis, Hepatomegaly, Jaundice, Splenomegaly, Portal hypertension	ORPHA:59303
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Hyperparathyroidism, Anemia, Splenomegaly	OMIM:618107
Gaucher Disease, Type Iii	Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatomegaly	OMIM:231000
Letterer-Siwe Disease	Neutropenia, Thrombocytopenia, Jaundice, Anemia, Hepatosplenomegaly	OMIM:246400
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Neutropenia, Umbilical hernia, Thrombocytopenia, Failure to thrive, Anemia, Large for gestational...	OMIM:614520
Immunodeficiency 54	Hepatomegaly, Reduced natural killer cell count, Adrenocorticotropic hormone excess, Splenomegaly...	OMIM:609981
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Hepatic failure, Splenomegaly	ORPHA:664
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hepatic steatosis, Hepatosplenomegaly, Splenomegaly	OMIM:612526
Wolcott-Rallison Syndrome	Iron deficiency anemia, Lymphocytosis, Elevated hepatic transaminase, Exocrine pancreatic insuffi...	ORPHA:1667
Cold Agglutinin Disease	Abnormal urinary color, Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:56425
Lichtenstein Syndrome	Enamel hypoplasia, Neutropenia	OMIM:246550
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Neutropenia, Biliary tract abnormality, Cholangitis, Failure to thrive	OMIM:209920
Gray Platelet Syndrome	Abnormal bleeding, Prolonged bleeding time, Abnormal number of alpha granules, Epistaxis, Thrombo...	OMIM:139090
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Recurrent tonsillitis, Hemolytic anemia, Lymphadenitis, Lymphopenia, Impaired oxidative burst, Gr...	OMIM:618935
Fetal Gaucher Disease	Intracranial hemorrhage, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Abnormality ...	ORPHA:85212
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Hypoplastic tricuspid valve, Atrial septal defect, Exocrine pancreatic insufficiency, Ventricular...	ORPHA:2255
Trisomy 8P	Cryptorchidism, Aplasia/Hypoplasia of the gallbladder, Heart murmur, Hydronephrosis, Abnormal lef...	ORPHA:264450
Propionic Acidemia	Neutropenia, Hepatomegaly, Pancytopenia, Thrombocytopenia, Anemia, Pancreatitis, Failure to thrive	OMIM:606054
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Nephronophthisis, Ventricular septal defect, Cholestasis, Hepatic fibrosis, Hepatomegaly, Chronic...	OMIM:615630
Pfapa Syndrome	Hepatomegaly, Lymphadenopathy, Splenomegaly	ORPHA:42642
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis	OMIM:612690
Macrocephaly/Autism Syndrome	Hepatomegaly, Lymphopenia, Splenomegaly	OMIM:605309
Basel-Vanagaite-Smirin-Yosef Syndrome	Atrial septal defect, Ventricular septal defect, Cholelithiasis, Male urethral meatus stenosis, H...	ORPHA:464738
Meckel Syndrome, Type 3	Malformation of the hepatic ductal plate, Multicystic kidney dysplasia, Hepatic fibrosis, Hepatom...	OMIM:607361
Thrombocythemia 1	Thrombocytosis, Splenomegaly	OMIM:187950
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency	Cirrhosis, Elevated hepatic transaminase, Abnormal heart morphology, Hepatocellular adenoma, Hepa...	ORPHA:370
Infantile Liver Failure Syndrome 3	Elevated hepatic transaminase, Hepatic steatosis, Hepatic bridging fibrosis, Acute hepatic failur...	OMIM:618641
Cyclic Neutropenia	Peritonitis, Cellulitis, Decreased eosinophil count, Tooth abscess, Lymphopenia, Thrombocytopenia...	ORPHA:2686
Hardikar Syndrome	Elevated hepatic transaminase, Patent foramen ovale, Hydroureter, Ventricular septal defect, Hepa...	OMIM:612726
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Thrombocytopenia, Inguinal hernia, Neutropenia, Anemia	OMIM:614857
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Hemoglobinuria, Prolonged neon...	OMIM:300908
Adult-Onset Still Disease	Elevated hepatic transaminase, Pericarditis, Leukocytosis, Myocarditis, Generalized lymphadenopat...	ORPHA:829
Methylmalonic Aciduria, Cblb Type	Neutropenia, Hepatomegaly, Thrombocytopenia, Pancytopenia, Anemia, Failure to thrive	OMIM:251110
Spondylometaphyseal Dysplasia, Axial	Splenomegaly	OMIM:602271
Drug-Induced Autoimmune Hemolytic Anemia	Abnormal urinary color, Autoimmune hemolytic anemia, Congestive heart failure, Tachycardia, Splen...	ORPHA:90037
Wilson Disease	Acute hepatitis, Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failu...	ORPHA:905
Congenital Rubella Syndrome	Atrial septal defect, Ventricular septal defect, Thrombocytopenia, Jaundice, Hepatomegaly, Anemia...	ORPHA:290
22Q11.2 Deletion Syndrome	Cryptorchidism, Vesicoureteral reflux, Corneal neovascularization, Abnormality of the tonsils, Mu...	ORPHA:567
Methylcobalamin Deficiency Type Cble	Neutropenia, Pancytopenia, Failure to thrive, Increased mean corpuscular volume, Abnormality of t...	ORPHA:2169
Chediak-Higashi Syndrome	Hemophagocytosis, Abnormal dense granules, Impaired neutrophil bactericidal activity, Neutropenia...	OMIM:214500
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Autoimmune hemolytic anemia, Chronic lymphatic leukemia, Jaundice, Conges...	ORPHA:90033
Vitreoretinopathy, Neovascular Inflammatory	Vitreous hemorrhage, Posterior retinal neovascularization, Peripheral retinal neovascularization	OMIM:193235
Familial Acute Necrotizing Encephalopathy	Choroid hemorrhage	ORPHA:88619
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cryptorchidism, Abnormal heart morphology, Intrahepatic biliary dysgenesis, Hepatomegaly, Jaundic...	OMIM:614866
Shwachman-Diamond Syndrome 1	Exocrine pancreatic insufficiency, Elevated hepatic transaminase, Persistence of hemoglobin F, Ne...	OMIM:260400
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Elevate...	OMIM:251880
Familial Hemophagocytic Lymphohistiocytosis	Abnormal renal physiology, Hemophagocytosis, Ecchymosis, Elevated hepatic transaminase, Purpura, ...	ORPHA:540
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy...	ORPHA:3203
Polycythemia Vera	Gastrointestinal hemorrhage, Intermittent claudication, Angina pectoris, Budd-Chiari syndrome, Ep...	ORPHA:729
Griscelli Syndrome	Abnormality of neutrophils, Thrombocytopenia, Jaundice, Hepatomegaly, Hepatitis, Ascites, Leukope...	ORPHA:381
Autosomal Recessive Polycystic Kidney Disease	Acute kidney injury, Jaundice, Hypersplenism, Renal insufficiency, Enlarged kidney, Periportal fi...	ORPHA:731
Mucopolysaccharidosis, Type Iiib	Asymmetric septal hypertrophy, Hepatomegaly, Splenomegaly, Cardiomegaly, Heparan sulfate excretio...	OMIM:252920
Juvenile Xanthogranuloma	Hyphema, Myeloproliferative disorder	ORPHA:158000
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Decreased testicular size, Hypogonadism, Splenomegaly	OMIM:201100
Lissencephaly Syndrome, Norman-Roberts Type	Patent foramen ovale, Hypoplastic spleen, Atrial septal defect	ORPHA:89844
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Neutropenia, Anemia	OMIM:617056
Metachromatic Leukodystrophy	Urinary incontinence, Neoplasm of the gallbladder, Abnormal gallbladder morphology, Hemobilia	ORPHA:512
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Stomatocytosis, Reticulocytosis, Hepatomegaly, Jaundice, Splenomegaly	OMIM:185000
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Reduced natural killer cell count, Thrombocytopenia, Diffuse alveolar hemorrhage, A...	OMIM:616050
Immunodeficiency 32B	Splenomegaly	OMIM:226990
Poikiloderma With Neutropenia	Neutropenia, Splenomegaly	OMIM:604173
Coach Syndrome 1	Nephronophthisis, Cirrhosis, Elevated hepatic transaminase, Abnormal abdomen morphology, Unilater...	OMIM:216360
Methylmalonic Aciduria, Cbla Type	Neutropenia, Hepatomegaly, Thrombocytopenia, Pancytopenia, Anemia, Failure to thrive	OMIM:251100
Cerebrotendinous Xanthomatosis	Angina pectoris, Myocardial infarction, Cholelithiasis	OMIM:213700
Cholestasis, Progressive Familial Intrahepatic, 2	Cirrhosis, Intrahepatic cholestasis, Hepatocellular carcinoma, Hepatomegaly, Intermittent jaundic...	OMIM:601847
Diamond-Blackfan Anemia 11	Neutropenia, Anemia, Anemia of inadequate production	OMIM:614900
Legionnaires Disease	Arrhythmia, Hematuria, Pericarditis, Endocarditis, Hypotension, Myocarditis, Lymphopenia, Jaundic...	ORPHA:549
Tyrosinemia, Type I	Abnormal bleeding, Cirrhosis, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Enlarge...	OMIM:276700
Typhoid	Arrhythmia, Gastrointestinal hemorrhage, Epistaxis, Hepatomegaly, Cardiac arrest, Splenomegaly	ORPHA:99745
Sialidosis Type 2	Hepatomegaly, Ascites, Nephropathy, Splenomegaly	ORPHA:87876
Autoimmune Hepatitis	Acute hepatitis, Cirrhosis, Spider hemangioma, Elevated hepatic transaminase, Gastrointestinal he...	ORPHA:2137
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Pancytopenia, Splenomegaly	OMIM:614979
Genitopalatocardiac Syndrome	Abnormality of mesentery morphology, Cryptorchidism, Multicystic kidney dysplasia, Gonadal dysgen...	ORPHA:2075
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis	OMIM:612653
Refractory Anemia With Excess Blasts	Abnormal bleeding, Palpitations, Leukocytosis, Thrombocytopenia, Acute myeloid leukemia, Retinal ...	ORPHA:86839
Bile Acid Synthesis Defect, Congenital, 1	Cirrhosis, Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hepatom...	OMIM:607765
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Hepatic failure,...	OMIM:235555
Familial Cold Autoinflammatory Syndrome 2	Leukocytosis, Lymphadenopathy, Splenomegaly	OMIM:611762
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Asymmetric septal hypertrophy, Heparan sulfate excretion in urine, Splenomegaly	OMIM:252900
Heart Defects, Congenital, And Other Congenital Anomalies	Hypoplastic tricuspid valve, Truncus arteriosus, Atrial septal defect, Ventricular septal defect,...	OMIM:600001
Symptomatic Form Of Hemochromatosis Type 1	Cirrhosis, Arrhythmia, Hepatocellular carcinoma, Elevated jugular venous pressure, Chronic hepati...	ORPHA:465508
Pseudo-Torch Syndrome 1	Elevated hepatic transaminase, Thrombocytopenia, Jaundice, Hepatomegaly, Decreased liver function...	OMIM:251290
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Severe B lymphocytopenia, Cryptorchidism, Cholelithiasis, Biliary hyperplasia, Hepatomegaly, Peri...	ORPHA:83617
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Acanthocytosis, Spherocytosis	OMIM:616649
Ketamine-Induced Biliary Dilatation	Dysuria, Abnormal biliary tract morphology	ORPHA:293807
Essential Thrombocythemia	Prolonged bleeding time, Myocardial infarction, Transient ischemic attack, Splenomegaly, Abnormal...	ORPHA:3318
Immunodeficiency, Common Variable, 2	Hepatomegaly, Follicular hyperplasia, Lymphadenopathy, Splenomegaly	OMIM:240500
Retinoblastoma	Subretinal pigment epithelium hemorrhage, Vitreous hemorrhage, Hyphema, Leukemia, Pineoblastoma	ORPHA:790
Gaucher Disease, Type Ii	Thrombocytopenia, Splenomegaly, Anemia, Hepatomegaly	OMIM:230900
Congenital Disorder Of Glycosylation, Type Iil	Abnormal bleeding, Cirrhosis, Atrial septal defect, Elevated hepatic transaminase, Ventricular se...	OMIM:614576
Roifman Syndrome	Noncompaction cardiomyopathy, Ventricular septal defect, Lymphadenopathy, Hepatomegaly, Splenomeg...	OMIM:616651
Wolman Disease	Bone-marrow foam cells, Hepatomegaly, Splenomegaly, Ascites, Hepatic failure, Anemia	ORPHA:75233
Congenital Disorder Of Glycosylation, Type Iif	Thrombocytopenia, Neutropenia, Macrothrombocytopenia	OMIM:603585
Craniofacioskeletal Syndrome	Cryptorchidism, Atrial septal defect, Ventricular septal defect, Hydronephrosis, Hypospadias, Abs...	OMIM:300712
Primary Lipodystrophy	Cirrhosis, Angina pectoris, Hepatic steatosis, Hypertension, Polycystic ovaries, Congestive heart...	ORPHA:90970
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Pericarditis, Lymphadenopathy, Splenomegaly	ORPHA:85414
Mixed Connective Tissue Disease	Hemolytic anemia, Pericarditis, Prolonged bleeding time, Purpura, Gastrointestinal hemorrhage, Pu...	ORPHA:809
Shwachman-Diamond Syndrome 2	Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Neutropenia, Normocytic anemia, Hepat...	OMIM:617941
Congenital Disorder Of Glycosylation, Type Iij	Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Splenomegaly	OMIM:613489
Shwachman-Diamond Syndrome	Exocrine pancreatic insufficiency, Elevated hepatic transaminase, Chronic neutropenia, Neutropeni...	ORPHA:811
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Micronodular cirrhosis, Hematuria, Elevated hepatic transaminase, Punctate vasculitis skin lesion...	OMIM:192315
American Trypanosomiasis	Arrhythmia, Lymphadenopathy, Hepatomegaly, Splenomegaly, Congestive heart failure, Myocarditis, C...	ORPHA:3386
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Exocrine pancreatic insufficiency, Hepatomegaly, Jaundice, Splenomegaly, Anemia, Anemia of inadeq...	OMIM:612714
Cohen Syndrome	Childhood-onset truncal obesity, Small for gestational age, Neutropenia, Leukopenia	OMIM:216550
Evans Syndrome	Autoimmune hemolytic anemia, Jaundice, Neutropenia in presence of anti-neutropil antibodies, Auto...	ORPHA:1959
Transcobalamin Ii Deficiency	Neutropenia, Reticulocytopenia, Pancytopenia, Failure to thrive, Macrocytic anemia	OMIM:275350
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency	Neutropenia	OMIM:600351
Gracile Bone Dysplasia	Hypoplastic spleen, Micropenis, Ascites, Asplenia	OMIM:602361
Peutz-Jeghers Syndrome	Biliary tract neoplasm, Multiple renal cysts, Gastrointestinal hemorrhage, Enlarged polycystic ov...	ORPHA:2869
Pgm3-Cdg	T lymphocytopenia, Abnormal CD4:CD8 ratio, Cutaneous abscess, Hemolytic anemia, Decreased proport...	ORPHA:443811
Thrombocytopenia, Anemia, And Myelofibrosis	Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly	OMIM:617441
Mevalonic Aciduria	Splenomegaly	ORPHA:29
Systemic Mastocytosis With Associated Hematologic Neoplasm	Myeloid leukemia, Leukocytosis, Hypotension, Chronic lymphatic leukemia, Lymphadenopathy, Thrombo...	ORPHA:98849
Elliptocytosis 1	Jaundice, Hemolytic anemia, Elliptocytosis, Splenomegaly	OMIM:611804
Omenn Syndrome	Leukocytosis, Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly, Nephrotic syndrome, ...	ORPHA:39041
Pearson Syndrome	Cardiac conduction abnormality, Reticulocytosis, Neutropenia, Pancreatic fibrosis, Pancytopenia, ...	ORPHA:699
Prolidase Deficiency	Elevated circulating aspartate aminotransferase concentration, Diffuse telangiectasia, Thrombocyt...	OMIM:170100
Bohring-Opitz Syndrome	Cholelithiasis, Urinary retention, Cardiomegaly, Abnormal cardiac septum morphology, Bradycardia,...	ORPHA:97297
Heterotaxy, Visceral, 1, X-Linked	Atrial septal defect, Horseshoe kidney, Single ventricle, Ventricular septal defect, Mitral atres...	OMIM:306955
Dominant Beta-Thalassemia	Hypochromic microcytic anemia, Cirrhosis, Arrhythmia, Decreased mean corpuscular hemoglobin conce...	ORPHA:231226
Fusariosis	Peritonitis, Lung abscess, Cellulitis, Lymphopenia, Panniculitis, Granuloma, Neutropenia, Fasciit...	ORPHA:228119
Tangier Disease	Hepatomegaly, Myocardial infarction, Left ventricular hypertrophy, Splenomegaly	OMIM:205400
Mucopolysaccharidosis-Plus Syndrome	Macrovesicular hepatic steatosis, Flexion contracture, Neutropenia, Hepatomegaly, Thrombocytopeni...	OMIM:617303
X-Linked Lymphoproliferative Disease	Lymphocytosis, Pancytopenia, Histiocytosis, Decreased liver function, Increased B cell count, Myo...	ORPHA:2442
Myelofibrosis	Purpura, Myeloproliferative disorder, Splenomegaly	OMIM:254450
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Weight loss, Abnormality of the pancreas, Anemia, Neutrophilia, Br...	ORPHA:54251
Acute Promyelocytic Leukemia	Leukocytosis, Neutropenia, Weight loss, Pancytopenia, Thrombocytopenia, Anemia, Leukopenia	ORPHA:520
Scrub Typhus	Abnormal bleeding, Hypotension, Splenomegaly, Myocarditis, Renal insufficiency, Lymphadenopathy	ORPHA:83317
Necrotizing Enterocolitis	Peritonitis, Leukocytosis, Neutropenia, Thrombocytopenia, Small for gestational age	ORPHA:391673
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hepatomegaly, Jaundice, Hemolytic anemia, Splenomegaly	OMIM:608885
Beta-Thalassemia Major	Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Reduced hemoglo...	ORPHA:231214
Exudative Vitreoretinopathy 4	Vitreous hemorrhage	OMIM:601813
Caspase 8 Deficiency	Decreased CD4:CD8 ratio, Lymphadenopathy, Splenomegaly	OMIM:607271
Osteopetrosis, Autosomal Recessive 5	Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Hepatomegaly, Absence of renal cort...	OMIM:259720
Q Fever	Hematuria, Elevated hepatic transaminase, Pericarditis, Purpura, Endocarditis, Abnormal heart val...	ORPHA:781
Classic Hodgkin Lymphoma	Hepatomegaly, Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly	ORPHA:391
Meckel Syndrome, Type 6	Abnormal internal genitalia, Hepatic fibrosis, Cystic liver disease, Renal cyst, Bile duct prolif...	OMIM:612284
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Cirrhosis, Elevated hepatic transaminase, Hepatocellular adenoma, Hepatic steatosis, Myoglobinuri...	ORPHA:264580
Cinca Syndrome	Purpura, Abnormality of neutrophils, Leukocytosis, Abnormal granulocyte morphology, Hepatomegaly,...	ORPHA:1451
Dubin-Johnson Syndrome	Abnormal urinary color, Biliary tract abnormality, Hepatomegaly, Jaundice, Abnormality of the liver	ORPHA:234
Schimke Immuno-Osseous Dysplasia	Abnormal proportion of naive CD4 T cells, Lymphopenia, Decreased proportion of naive CD8 T cells,...	ORPHA:1830
Solute carrier family 4 (anion exchanger), member 1	Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Jaundice, Splenomegaly, Acanth...	OMIM:109270
Aicardi-Goutieres Syndrome 1	Elevated hepatic transaminase, Purpura, Thrombocytopenia, Hepatomegaly, Prolonged neonatal jaundi...	OMIM:225750
Sitosterolemia 1	Abnormal bleeding, Episodic hemolytic anemia, Chronic hemolytic anemia, Stomatocytosis, Reticuloc...	OMIM:210250
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema	Neutropenia, Failure to thrive	OMIM:608809
Saul-Wilson Syndrome	Neutropenia	OMIM:618150
Gaucher Disease, Type Iiic	Mitral valve calcification, Pancytopenia, Hepatomegaly, Cardiomegaly, Mitral stenosis, Splenomega...	OMIM:231005
3-Methylglutaconic Aciduria Type 7	Hepatic steatosis, Infection associated neutropenia, Elevated hepatic transaminase, Neutropenia	ORPHA:445038
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Pancreatic lymphangiectasis, Cryptorchidism, Abnormality of the uterus, Ventricular septal defect...	ORPHA:1655
Opitz Gbbb Syndrome, Type Ii	Cryptorchidism, Atrial septal defect, Bifid scrotum, Ventricular septal defect, Abnormality of th...	OMIM:145410
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Hematuria, Supraventricular arrhythmia, Nephropathy, Renal cyst, Renal insufficiency, Retinal hem...	OMIM:611773
Exudative Vitreoretinopathy 1	Retinal neovascularization, Vitreous hemorrhage	OMIM:133780
Sepsis In Premature Infants	Leukocytosis, Neutropenia, Decreased body weight, Hepatomegaly, Jaundice, Thrombocytopenia, Decre...	ORPHA:90051
Meacham Syndrome	Cryptorchidism, Anomalous pulmonary venous return, Crossed fused renal ectopia, Horseshoe kidney,...	ORPHA:3097
Triploidy	Cryptorchidism, Ambiguous genitalia, Hepatomegaly, Abnormality of the pancreas, Abnormality of th...	ORPHA:3376
Cryohydrocytosis	Reticulocytosis, Hemolytic anemia, Stomatocytosis, Splenomegaly	OMIM:185020
Niemann-Pick Disease, Type A	Bone-marrow foam cells, Elevated circulating aspartate aminotransferase concentration, Microcytic...	OMIM:257200
Gamma-Heavy Chain Disease	Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal lymphocyte morphology, Thrombo...	ORPHA:100026
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Pancreatic lymphangiectasis, Cryptorchidism, Ventricular septal defect, Hepatomegaly, Thyroid lym...	OMIM:235255
Histiocytosis-Lymphadenopathy Plus Syndrome	Atrial septal defect, Azoospermia, Ventricular septal defect, Hypergonadotropic hypogonadism, Dec...	OMIM:602782
Schimke Immunoosseous Dysplasia	Lymphopenia, Neutropenia, Thrombocytopenia, Abnormal T cell morphology, Anemia	OMIM:242900
Familial Partial Lipodystrophy, Dunnigan Type	Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Congestive heart failure, Pancreatitis, Sple...	ORPHA:2348
Methylmalonic Acidemia With Homocystinuria Type Cblf	Megaloblastic anemia, Failure to thrive, Neutropenia, Reduced number of intrahepatic bile ducts	ORPHA:79284
Methylmalonic Aciduria And Homocystinuria, Cblf Type

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Gene: Neurl4 MGI:1921092

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lacZ Expression

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Human diseases caused by Neurl4 mutations