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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 eye 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
decreased prepulse inhibition	Neurl4^em1(IMPC)Mbp	HOM	Early adult	4.09×10^-06
abnormal skin morphology	Neurl4^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged gallbladder	Neurl4^em1(IMPC)Mbp	HOM	Late adult	0.00
increased grip strength	Neurl4^em1(IMPC)Mbp	HOM	Late adult	2.30×10^-06
abnormal kidney morphology	Neurl4^em1(IMPC)Mbp	HOM	Late adult	0.00
small kidney	Neurl4^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal spleen morphology	Neurl4^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged spleen	Neurl4^em1(IMPC)Mbp	HOM	Late adult	0.00
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
absent seminal vesicle	Neurl4^em1(IMPC)Mbp	HOM	Late adult	0.00
increased lean body mass	Neurl4^em1(IMPC)Mbp	HOM	Early adult	1.27×10^-06
eye hemorrhage	Neurl4^em1(IMPC)Mbp	HOM	Late adult	5.37×10^-06
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 leukocyte cell number	Neurl4^em1(IMPC)Mbp	HOM	Late adult	2.43×10^-05
decreased neutrophil cell number	Neurl4^em1(IMPC)Mbp	HOM	Early adult	5.23×10^-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

70 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

34 Images

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X-ray

XRay Images Whole Body Dorso Ventral

32 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 (695 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, Steroid-responsive anemia, Neutropenia	OMIM:618310
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly, Anemia	ORPHA:294
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Neutropenia, Failur...	OMIM:615285
Beta-Thalassemia	Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop...	ORPHA:848
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Failure to thrive, Neutropenia	OMIM:616022
Cyclic Neutropenia	Cyclic neutropenia	OMIM:162800
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Kaposiform Lymphangiomatosis	Abnormal bleeding, Epidural hemorrhage, Epistaxis, Pericardial effusion, Lymphangioma, Thrombocyt...	ORPHA:464329
Sickle Cell Disease	Hepatomegaly, Hemolytic anemia, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Leukoc...	OMIM:603903
Immunodeficiency 50	Lymphopenia, Neutropenia	OMIM:300988
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt...	ORPHA:231222
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Splenomegaly, Jaundice,...	OMIM:211600
Whim Syndrome 2	Chronic neutropenia	OMIM:619407
Gallbladder Disease 1	Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f...	OMIM:600803
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Protoporphyria, Erythropoietic, X-Linked	Elevated hepatic transaminase, Iron deficiency anemia, Cholelithiasis	OMIM:300752
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Trimethylaminuria	Splenomegaly, Anemia, Neutropenia	OMIM:602079
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Hyperbiliverdinemia	Cholelithiasis, Decreased liver function, Cholestasis, Green urine	OMIM:614156
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Neutropenia	ORPHA:90023
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c...	ORPHA:53035
Benign Recurrent Intrahepatic Cholestasis	Elevated hepatic transaminase, Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, He...	ORPHA:65682
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid	OMIM:206400
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, 3-Methylglutaconic aciduria	OMIM:619813
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr...	ORPHA:69663
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Monocyto...	OMIM:614470
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple...	ORPHA:232
Neutropenia, Chronic Familial	Neutropenia	OMIM:162700
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Abnormal left ventricular function, Leukopenia, Cholecystitis, Ecchymosis, I...	ORPHA:99827
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Splenomegaly, Jaundice, Thrombocytopenia, Hemophagocytosis, Neutropenia, Anemia	OMIM:603552
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ...	ORPHA:75564
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest...	OMIM:607685
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, T...	ORPHA:494444
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Congenital Bile Acid Synthesis Defect Type 1	Abnormal bleeding, Hepatomegaly, Gastrointestinal hemorrhage, Elevated hepatic transaminase, Sple...	ORPHA:79301
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Failure to thrive	OMIM:617585
Autosomal Erythropoietic Protoporphyria	Cholelithiasis, Decreased liver function, Cirrhosis, Microcytic anemia	ORPHA:79278
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia	ORPHA:46532
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Agammaglobulinemia 3, Autosomal Recessive	Failure to thrive, Neutropenia, Absent circulating B cells, Abnormal T cell morphology	OMIM:613501
Hereditary Spherocytosis	Hepatomegaly, Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno...	ORPHA:822
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Hereditary Hemorrhagic Telangiectasia	Conjunctival telangiectasia, Retinal telangiectasia, Pulmonary embolism, Microcytic anemia, Chole...	ORPHA:774
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Fanconi Anemia, Complementation Group G	Thrombocytopenia, Leukemia, Anemia, Neutropenia	OMIM:614082
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Cholestasis, Benign Recurrent Intrahepatic, 2	Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholelithiasis	OMIM:605479
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal bleeding, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Anemia	ORPHA:231393
Protoporphyria, Erythropoietic, 1	Hemolytic anemia, Hepatic failure, Cholelithiasis	OMIM:177000
Gallbladder Disease 4	Cholelithiasis	OMIM:611465
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Neutropenia	OMIM:610798
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Asplenia, Pulmonary valve a...	ORPHA:210122
Immunodeficiency 46	Failure to thrive, Neutropenia, Anemia, Intermittent thrombocytopenia	OMIM:616740
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly...	ORPHA:30391
Folate Malabsorption, Hereditary	Folate-responsive megaloblastic anemia, Leukopenia, Neutropenia, Failure to thrive, Thrombocytopenia	OMIM:229050
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Congestive heart failure, Cardiomyopat...	OMIM:613313
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Splenom...	OMIM:620010
Immunodeficiency 104	Splenomegaly, Hepatomegaly, T lymphocytopenia, Lymphadenopathy	OMIM:608971
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Elevated hepatic transaminase, Neutropenia, Exocrine pancreatic insufficiency	OMIM:618752
Hemochromatosis, Type 3	Elevated hepatic transaminase, Cirrhosis, Neutropenia, Lymphopenia, Anemia	OMIM:604250
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Gray Platelet Syndrome	Abnormal bleeding, Epistaxis, Splenomegaly, Bruising susceptibility, Thrombocytopenia	ORPHA:721
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc...	ORPHA:882
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly, Lymphocytosis	OMIM:606445
Glycogen Storage Disease Vii	Hemolytic anemia, Reticulocytosis, Exercise-induced myoglobinuria, Jaundice, Reduced erythrocyte ...	OMIM:232800
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega...	ORPHA:567983
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Myotonic Dystrophy 1	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Hypogonadism, Cholelith...	OMIM:160900
Glutathione Synthetase Deficiency	Hemolytic anemia, Neutropenia	OMIM:266130
Sialuria	Elevated hepatic transaminase, Hepatomegaly, Hepatosplenomegaly, Prolonged prothrombin time, Chol...	ORPHA:3166
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransf...	OMIM:611881
Lujo Hemorrhagic Fever	Shock, Elevated hepatic transaminase, Renal insufficiency, Microscopic hematuria, Excessive bleed...	ORPHA:319213
Pancreatic Colipase Deficiency	Cholelithiasis, Exocrine pancreatic insufficiency, Megaloblastic anemia	ORPHA:309108
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly	OMIM:619175
Amyloidosis, Familial Visceral	Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Hypertension, Nephrotic syndrome...	OMIM:105200
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia	OMIM:619302
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen...	OMIM:619313
Ataxia-Pancytopenia Syndrome	Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto...	OMIM:159550
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly	ORPHA:139406
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Neutropenia	OMIM:615214
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Sea-Blue Histiocyte Disease	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating...	OMIM:269600
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormali...	ORPHA:1414
Gcgr-Related Hyperglucagonemia	Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology	ORPHA:438274
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Transcobalamin Deficiency	Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria	OMIM:230350
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po...	OMIM:602347
Coproporphyria, Hereditary	Hepatomegaly, Tachycardia, Splenomegaly, Jaundice, Hypertension, Increased urinary porphobilinoge...	OMIM:121300
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Mirizzi Syndrome	Dark urine, Elevated hepatic transaminase, Tachycardia, Pancreatitis, Jaundice, Cholesterol galls...	ORPHA:521219
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Hematochezia, Cholestatic liver disease, Hyp...	ORPHA:79095
Galactose Epimerase Deficiency	Splenomegaly, Hepatomegaly, Jaundice, Aminoaciduria	ORPHA:79238
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Spider hemangioma, Hepatic fibrosis, Neopl...	ORPHA:171
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive	Pulmonary embolism, Vitreous hemorrhage, Purpura	OMIM:612304
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Congestive heart failure, Jaundice, Splen...	OMIM:615512
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Normochromic anemi...	OMIM:618775
Hemochromatosis, Type 2A	Hepatomegaly, Hypogonadotropic hypogonadism, Congestive heart failure, Splenomegaly, Dilated card...	OMIM:602390
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Neutropenia, Failure ...	OMIM:615387
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholest...	OMIM:613812
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Elevated hepatic transaminase, Acute myeloid leukemia, Pancytopenia, Splenomegaly, Thrombocytopen...	ORPHA:158057
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Splenomegaly, Thrombocytopenia, Neutropenia, Failure to thrive, Pancreatitis, Anemia	ORPHA:79312
Hemorrhagic Fever-Renal Syndrome	Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis...	ORPHA:340
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly, Aminoaciduria	ORPHA:417
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Neph...	ORPHA:100024
Sandhoff Disease	Splenomegaly, Congestive heart failure, Hepatomegaly	ORPHA:796
Marburg Hemorrhagic Fever	Leukopenia, Abnormal lymphocyte morphology, Internal hemorrhage, Abnormal bleeding, Reticulocytos...	ORPHA:99826
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Retinopathy Of Prematurity	Vitreous hemorrhage	ORPHA:90050
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated hepatic transaminase, Abnormality of the male genitalia, Renal tubular dysfunction, Atri...	OMIM:614886
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Neutropenia	OMIM:610738
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent throm...	OMIM:150550
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphocytosis, He...	OMIM:308240
Retinal Capillary Malformation	Vitreous hemorrhage, Hyphema	ORPHA:71213
Slc35A1-Cdg	Giant platelets, Neutropenia, Cellulitis, Abnormal platelet granules, Thrombocytopenia	ORPHA:238459
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Portal hypertension, Malformation...	OMIM:208540
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Retin...	ORPHA:464321
Polycythemia Vera	Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi...	OMIM:263300
Immunodeficiency 48	Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly	OMIM:269840
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia	ORPHA:2688
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Leukocyte Adhesion Deficiency, Type Iii	Abnormal bleeding, Hepatomegaly, Extramedullary hematopoiesis, Epistaxis, Splenomegaly, Leukocyto...	OMIM:612840
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Impaired neutrop...	OMIM:618986
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative...	OMIM:619463
Thrombocytopenia With Beta-Thalassemia, X-Linked	Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epi...	OMIM:314050
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia	ORPHA:289916
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Chronic active hepatitis, Female hypogonadism, Asplenia, Nephrocalcinosis, Ma...	OMIM:240300
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi...	OMIM:619868
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Spl...	ORPHA:398124
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Lymphopenia, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T ce...	ORPHA:169154
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Hepatomegaly, Fetal ascites	OMIM:619462
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Nphp3-Related Meckel-Like Syndrome	Abnormality of the pancreas, Multicystic kidney dysplasia, Abnormal biliary tract morphology, Abn...	ORPHA:3032
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Generalized Pseudohypoaldosteronism Type 1	Cholelithiasis, Hypovolemic shock, Recurrent tonsillitis, Arrhythmia	ORPHA:171876
Congenital Disorder Of Glycosylation, Type Ik	Splenomegaly, Cardiomyopathy, Hypogonadism, Hepatomegaly	OMIM:608540
Babesiosis	Hemolytic anemia, Hepatomegaly, Renal insufficiency, Myocardial infarction, Congestive heart fail...	ORPHA:108
Pentalogy Of Cantrell	Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Hypospadias, Poly...	ORPHA:1335
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Hemophagocytosis, Neutropenia	ORPHA:79477
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Cervical lymphadenopathy, Vasculitis, Decreased mean platelet volume, Lymphadenopathy, Hematochez...	OMIM:617718
Agammaglobulinemia 4, Autosomal Recessive	Neutropenia, Abnormal T cell morphology	OMIM:613502
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Meckel Syndrome, Type 6	Absent gallbladder, Abnormal internal genitalia, Renal cyst, Horseshoe kidney, Cystic liver disea...	OMIM:612284
Specific Granule Deficiency 2	Absent neutrophil specific granules, Thrombocytopenia, Neutropenia, Failure to thrive, Anemia, Am...	OMIM:617475
Aggressive Systemic Mastocytosis	Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Weight loss, He...	ORPHA:98850
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de...	OMIM:616278
Pelger-Huet Anomaly	Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ...	OMIM:169400
Hepatoportal Sclerosis	Abnormal bleeding, Gastrointestinal hemorrhage, Elevated hepatic transaminase, Portal hypertensio...	ORPHA:64743
Martinez-Frias Syndrome	Hypoplasia of the gallbladder, Hypospadias, Extrahepatic biliary duct atresia, Annular pancreas, ...	OMIM:601346
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt...	OMIM:615513
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia	OMIM:612527
Stormorken Syndrome	Abnormal bleeding, Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Asplenia, Thrombocyto...	OMIM:185070
Leptospirosis	Hepatomegaly, Pericarditis, First degree atrioventricular block, Cellular urinary casts, Jaundice...	ORPHA:509
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:598500
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosp...	OMIM:616828
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Absent circulating B cells	OMIM:619707
Whim Syndrome 1	Neutropenia	OMIM:193670
Immunodeficiency 102	Hepatomegaly, Autoimmune thrombocytopenia, Nodular regenerative hyperplasia of liver, Neutropenia...	OMIM:301082
Progressive Familial Intrahepatic Cholestasis	Splenomegaly, Hepatomegaly, Jaundice, Cholestasis	ORPHA:172
Caroli Syndrome	Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Leukopenia, Abnormal blee...	ORPHA:480520
Immunodeficiency 67	Liver abscess, Transient neutropenia	OMIM:607676
Niemann-Pick Disease, Type B	Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia	OMIM:607616
Distal Duplication 5Q	Ventricular septal defect, Dextrocardia, Hypospadias, Cryptorchidism, Aplasia/Hypoplasia of the g...	ORPHA:96097
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:610539
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Hepatomegaly, Portal hypertension, Elevated hepatic transaminase	OMIM:617068
Immunodeficiency With Hyper-Igm, Type 3	Neutropenia	OMIM:606843
Macrophage Activation Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Thromb...	ORPHA:158061
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Hypospadias, Splenomegaly, Abnormality of the ureter, Ascites, Anemia	ORPHA:1046
Autoimmune Lymphoproliferative Syndrome, Type Iia	Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lym...	OMIM:603909
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Vacuolated lymphocytes, Nephr...	OMIM:269920
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Lymphopenia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia,...	ORPHA:486
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Portal hypertension, Situs inversus totalis, Pancreatic cysts, Bili...	OMIM:267010
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Microcephalic Primordial Dwarfism, Toriello Type	Enamel hypoplasia, Neutropenia	ORPHA:2643
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome...	OMIM:616860
Spinocerebellar Ataxia, Autosomal Recessive 23	Neutropenia	OMIM:616949
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Congest...	OMIM:235200
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Neu...	OMIM:301078
8P Inverted Duplication/Deletion Syndrome	Dextrocardia, Precocious puberty, Cryptorchidism, Abnormal heart morphology, Aplasia/Hypoplasia o...	ORPHA:96092
Adams-Oliver Syndrome 6	Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly, Renal hypo...	OMIM:616589
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:86893
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholesta...	OMIM:214900
Congenital Bile Acid Synthesis Defect Type 3	Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala...	ORPHA:79302
Deafness-Lymphedema-Leukemia Syndrome	Prolonged bleeding time, Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acu...	ORPHA:3226
Ppoma	Gastrointestinal hemorrhage, Hepatomegaly, Neoplasm of the pancreas, Elevated circulating growth ...	ORPHA:97278
Sea-Blue Histiocytosis	Abnormal bleeding, Hepatomegaly, Petechiae, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue h...	ORPHA:158029
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites	OMIM:271500
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia	OMIM:616738
Immunodeficiency By Defective Expression Of Mhc Class Ii	Pancytopenia, Autoimmune hemolytic anemia, Abnormal CD4:CD8 ratio, Autoimmune thrombocytopenia, N...	ORPHA:572
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Proteinuria, Pericardial effusion, Hypersplenism, Thrombocytopenia, S...	ORPHA:77259
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Mediastinal lymphadeno...	OMIM:300853
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm...	OMIM:619375
Grfoma	Gastrointestinal hemorrhage, Hepatomegaly, Neoplasm of the pancreas, Elevated circulating growth ...	ORPHA:97261
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia	ORPHA:100025
Aicardi-Goutieres Syndrome 6	Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly	OMIM:615010
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:601859
Mirage Syndrome	Petechiae, Hypospadias, Hypergonadotropic hypogonadism, Thrombocytopenia, Cryptorchidism, Intracr...	OMIM:617053
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr...	OMIM:619220
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Cellulitis, Thrombocytopenia, Hepatitis, Weight loss, Neut...	ORPHA:47
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In...	OMIM:613027
Primary Myelofibrosis	Abnormal bleeding, Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytosis, Port...	ORPHA:824
Leishmaniasis	Abnormal bleeding, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Elevated hepatic t...	ORPHA:507
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Red urine, Cholelithiasis, Pink urine, Th...	OMIM:263700
Gaucher Disease Type 2	Splenomegaly, Hepatomegaly, Cardiac arrest	ORPHA:77260
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Leukocytosis, Vasculitis, Lymphadenopathy, Anemia	ORPHA:37748
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Cardiomy...	ORPHA:93476
Retinoschisis 1, X-Linked, Juvenile	Vitreous hemorrhage	OMIM:312700
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia	OMIM:618849
Mitchell-Riley Syndrome	Absent gallbladder, Biliary atresia, Cholestasis, Ascites, Acholic stools, Annular pancreas, Panc...	OMIM:615710
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Hepatitis, Coombs-positive hemolytic...	OMIM:304790
Cimdag Syndrome	Hypogonadism, Microvesicular hepatic steatosis, Cholelithiasis, Hepatomegaly	OMIM:619273
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy...	OMIM:300835
Harderoporphyria	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Splenome...	OMIM:618892
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Neutropenia	OMIM:617243
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis	OMIM:616719
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Ventricular septal defect, Splenomegaly, Leukopenia, Lymphopenia	OMIM:620210
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Tricuspid regurgitation, Congestive heart failure, Splenomegaly, Chylopericardium, ...	ORPHA:2414
Propionic Acidemia	Hepatomegaly, Pancytopenia, Thrombocytopenia, Neutropenia, Failure to thrive, Pancreatitis, Anemia	OMIM:606054
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Cholelithiasis, Micropenis, Decreased testicular size, Cryptorchidism	OMIM:300534
Aicardi-Goutieres Syndrome 4	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thro...	OMIM:610333
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Hepatomegaly, Leukopenia, Neutropenia, Failure to thrive, Pancreatitis, Thrombocytopenia	OMIM:251000
Chronic Visceral Acid Sphingomyelinase Deficiency	Abnormal bleeding, Hepatomegaly, Abnormal heart valve morphology, Autoimmune thrombocytopenia, Hy...	ORPHA:77293
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Neuraminidase Deficiency	Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel...	OMIM:256550
Idiopathic Aplastic Anemia	Pancytopenia, Epistaxis, Thrombocytopenia, Retinal hemorrhage, Reticulocytopenia, Gingival bleedi...	ORPHA:88
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Eosin...	ORPHA:400
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Mitral valve calcification, Pancytopenia, Aortic valve calcific...	ORPHA:2072
Autosomal Agammaglobulinemia	Failure to thrive, Neutropenia, Hepatitis, Cellulitis	ORPHA:33110
Felty Syndrome	Hepatomegaly, Splenomegaly, Thrombocytopenia, Weight loss, Neutropenia, Abnormal lymphocyte morph...	ORPHA:47612
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
Erythrocytosis, Familial, 1	Cerebral hemorrhage, Myocardial infarction, Splenomegaly, Increased hemoglobin, Increased red blo...	OMIM:133100
Aregenerative Anemia	Pancytopenia, Fatigable weakness of skeletal muscles, Erythroid hypoplasia, Reticulocytopenia, Ne...	ORPHA:101096
Wolcott-Rallison Syndrome	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Jaundice, Neutropenia, Iron d...	ORPHA:1667
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial...	OMIM:613011
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Poikilo...	OMIM:615234
Microphthalmia, Syndromic 9	Ventricular septal defect, Cryptorchidism, Hypoplastic left atrium, Multilobulated spleen, Hypopl...	OMIM:601186
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia	OMIM:613101
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hepatitis, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic s...	ORPHA:209902
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Hemophagocytosis	OMIM:300635
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Large for gestational age, Thrombocytopenia, Neutropenia, Umbilical hernia, Failure to thrive, An...	OMIM:614520
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs...	OMIM:226990
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B...	OMIM:607626
Congenital Enterovirus Infection	Abnormal macrophage morphology, Thrombocytopenia, Leukocytosis, Hepatitis, Cholestasis, Leukopeni...	ORPHA:292
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Hepatomegaly, Viral hepatitis, Renal insufficiency, Proteinuria, Med...	ORPHA:91138
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia	ORPHA:163596
Cholesteryl Ester Storage Disease	Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio...	OMIM:278000
Cholesteryl Ester Storage Disease	Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Hepatic failure	ORPHA:75234
Lissencephaly Syndrome, Norman-Roberts Type	Atrial septal defect, Hypoplastic spleen, Patent foramen ovale	ORPHA:89844
Transcobalamin Ii Deficiency	Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropen...	OMIM:275350
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent circulating B ce...	OMIM:619705
Basel-Vanagaite-Smirin-Yosef Syndrome	Ventricular septal defect, Hypospadias, Male urethral meatus stenosis, Atrial septal defect, Pulm...	ORPHA:464738
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Ureteral duplication, Double outlet left ventricle, Ventricular septal defect, Patent foramen ova...	ORPHA:2255
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Ventricular septal defect, Hypospadias, Thrombocytopenia, Cryptorchidism, Hea...	ORPHA:163979
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Clitoral hypertrophy, Ventricular septal defect, Thrombocytopenia, Mi...	OMIM:606003
Waldenström Macroglobulinemia	Gastrointestinal hemorrhage, Normocytic anemia, Hepatomegaly, Renal insufficiency, Epistaxis, Abn...	ORPHA:33226
Immunodeficiency 109 With Lymphoproliferation	Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells	OMIM:620282
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Hepatocellular carcinoma	OMIM:613490
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Inguinal hernia, Normochromic anemia, Neutropenia, Failure to thrive, Thrombocytopenia	OMIM:614857
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ...	OMIM:209950
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Letterer-Siwe Disease	Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Thrombocytopenia	OMIM:246400
Methylcobalamin Deficiency Type Cble	Macrocytic anemia, Pancytopenia, Abnormality of the liver, Increased mean corpuscular volume, Neu...	ORPHA:2169
Immunodeficiency With Hyper-Igm, Type 1	Hepatomegaly, Hemolytic anemia, Splenomegaly, Hepatitis, Chronic hepatitis, Sclerosing cholangiti...	OMIM:308230
Neonatal Alloimmune Neutropenia	Jaundice, Neutropenia in presence of anti-neutropil antibodies	ORPHA:464370
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Angina pectoris, Lymphadenopathy	ORPHA:79292
Cyclic Neutropenia	Cyclic neutropenia, Perianal abscess, Peritonitis, Cellulitis, Decreased eosinophil count, Lympho...	ORPHA:2686
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Cholangitis, Biliary tract abnormality, Neutropenia, Failure to thrive	OMIM:209920
Meckel Syndrome, Type 3	Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Bile duct p...	OMIM:607361
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Thrombocytopenia, Splenomegaly, Hypertensio...	OMIM:230800
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Splenomegaly, Anemia, Vasculitis in the skin, Petechiae, Purpura	OMIM:620296
Trichohepatoneurodevelopmental Syndrome	Hepatomegaly, Ventricular septal defect, Splenomegaly, Recurrent pancreatitis, Hypoplastic nipple...	OMIM:618268
22Q11.2 Deletion Syndrome	Hypoplasia of the thymus, Abnormality of the uterus, Vesicoureteral reflux, Atrial septal defect,...	ORPHA:567
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe...	OMIM:263200
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Thrombocytopenia, Cholestati...	ORPHA:540
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Hepatomegaly	ORPHA:2204
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,...	OMIM:619662
Autoinflammatory Disease, Systemic, X-Linked	Neutropenia, Panniculitis, B lymphocytopenia, Hepatosplenomegaly	OMIM:301081
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Acute hepatic failure, ...	ORPHA:131
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Leukopenia, Hepatic fibrosis, Neutropenia, Failure to thrive, Thro...	OMIM:613989
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ...	OMIM:619802
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis	ORPHA:59303
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Trisomy 8P	Abnormal atrioventricular connection, Cryptorchidism, Abnormal left ventricle morphology, Heart m...	ORPHA:264450
Lathosterolosis	Elevated hepatic transaminase, Bilobate gallbladder, Increased mean platelet volume, Acanthocytos...	OMIM:607330
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Metachromatic Leukodystrophy	Abnormal gallbladder morphology, Urinary incontinence, Hemobilia, Neoplasm of the gallbladder	ORPHA:512
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos...	ORPHA:98848
X-Linked Sideroblastic Anemia	Elevated hepatic transaminase, Splenomegaly, Anemia	ORPHA:75563
Developmental And Epileptic Encephalopathy 66	Anemia, Neutropenia	OMIM:618067
Familial Acute Necrotizing Encephalopathy	Choroid hemorrhage	ORPHA:88619
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H...	OMIM:615122
Immunodeficiency 54	Hepatomegaly, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopathy, Reduced natural ...	OMIM:609981
Shwachman-Diamond Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Small for gest...	OMIM:260400
Immunodeficiency, Common Variable, 1	Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo...	OMIM:607594
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Anemia, Neutropenia	OMIM:617056
Methylmalonic Aciduria, Cblb Type	Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Failure to thrive, Thrombocytopenia	OMIM:251110
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Splenomegaly, J...	OMIM:214500
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, S...	OMIM:602450
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio	OMIM:618495
Congenital Disorder Of Glycosylation, Type Iif	Macrothrombocytopenia, Thrombocytopenia, Neutropenia	OMIM:603585
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Abnormality of the spleen, Splenomegaly, Intracranial hemorrhage, Thr...	ORPHA:85212
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Ventricular septal defect, Splenomegaly, Chronic kidney disease, Cholestasis, Hepat...	OMIM:615630
Gracile Bone Dysplasia	Asplenia, Hypoplastic spleen, Ascites, Micropenis	OMIM:602361
Gaucher Disease, Type Iii	Splenomegaly, Hepatomegaly, Pancytopenia, Thrombocytopenia	OMIM:231000
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Petechiae, Splenomegaly, Anemia, Thrombocytopenia	OMIM:611490
Heart Defects, Congenital, And Other Congenital Anomalies	Absent gallbladder, Double outlet left ventricle, Ureteral duplication, Ventricular septal defect...	OMIM:600001
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Thrombocytopenia, Ne...	OMIM:617052
Glycogen Storage Disease Ixb	Splenomegaly, Hepatomegaly, Increased hepatic glycogen content	OMIM:261750
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Lymphadenitis, Splenomegaly, Rec...	OMIM:618935
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:42642
Acute Generalized Exanthematous Pustulosis	Elevated hepatic transaminase, Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Neutropenia	ORPHA:293173
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal h...	OMIM:252920
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:615085
Cerebrotendinous Xanthomatosis	Cholelithiasis, Angina pectoris, Myocardial infarction	OMIM:213700
Pearson Marrow-Pancreas Syndrome	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Sideroblastic anemia, Pancreatic ...	OMIM:557000
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
Cold Agglutinin Disease	Hemolytic anemia, Abnormal urinary color, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:56425
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Hepatomegaly, Hyperparathyroidism, Anemia	OMIM:618107
Ornithine Transcarbamylase Deficiency	Splenomegaly, Aminoaciduria, Hepatic failure	ORPHA:664
Gray Platelet Syndrome	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Abnormal number of alpha granules, Splenom...	OMIM:139090
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Vitreous hemorrhage, Posterior retinal neovascularization	OMIM:193235
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Unilateral renal agenesis, Abno...	OMIM:216360
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Diffuse alveolar hemorrhage, Splenomegaly, Anemia, Reduced natural killer cell coun...	OMIM:616050
Refractory Anemia With Excess Blasts	Abnormal bleeding, Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Retinal...	ORPHA:86839
Polycythemia Vera	Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo...	ORPHA:729
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Vesicoureteral...	OMIM:301068
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Jaundice, Stom...	OMIM:185000
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Precocious puberty, Hepatosplenomegaly, Cholecystitis, Cholelithiasis	OMIM:301066
Lipodystrophy, Congenital Generalized, Type 3	Splenomegaly, Hepatomegaly, Hepatic steatosis, Hepatosplenomegaly	OMIM:612526
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Inguinal hernia, Lymphopenia, Intermittent thrombocytopenia, Perianal abscess, Sple...	OMIM:612541
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Neutrophi...	ORPHA:829
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Poikilocytos...	OMIM:300908
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel...	OMIM:601847
Activated Pi3K-Delta Syndrome	Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia	ORPHA:397596
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole...	OMIM:618641
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Elevated hepatic transaminase, Proteinuria, Raynaud phenomenon, Micr...	OMIM:192315
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Epistaxis, Increased mean platelet volume, Splenomegaly, Thrombocytopenia, Stom...	OMIM:153670
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu...	ORPHA:381
Typhoid	Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cardiac arrest, Splenomegaly, Arrhythmia	ORPHA:99745
Evans Syndrome	Jaundice, Neutropenia in presence of anti-neutropil antibodies, Autoimmune hemolytic anemia, Auto...	ORPHA:1959
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Cutaneous abscess, Lymphopenia, Reduced natural killer cell count, Neutropenia	OMIM:619752
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Thrombocytopenia, Splenomegal...	ORPHA:905
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Viral hepatitis, Elevated hepatic transaminase, Diffuse hepatic stea...	ORPHA:2137
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Severe B lymphocytopenia, Biliary hyperplasia, Cryptorchidism, Perimembranous ventr...	ORPHA:83617
Drug-Induced Autoimmune Hemolytic Anemia	Abnormal urinary color, Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart ...	ORPHA:90037
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart ...	ORPHA:90033
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Elevated hepatic tr...	ORPHA:79303
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Lymphadenopathy	OMIM:611762
Pgm3-Cdg	Hemolytic anemia, Lymphopenia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnorma...	ORPHA:443811
Barth Syndrome	Cyclic neutropenia, Hypochromic microcytic anemia, Granulocytopenia, Neutropenia, Failure to thrive	OMIM:302060
Legionnaires Disease	Pericarditis, Renal insufficiency, Proteinuria, Myocarditis, Splenomegaly, Jaundice, Hepatitis, E...	ORPHA:549
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Splenomegaly, Jaundice, Intrah...	OMIM:607765
Shwachman-Diamond Syndrome	Elevated hepatic transaminase, Hepatomegaly, Normocytic anemia, Transient neutropenia, Aplastic a...	ORPHA:811
Pearson Syndrome	Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Neut...	ORPHA:699
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Pancreatic cysts, Renal hypoplasia, Stage 5 chronic kidne...	OMIM:614377
Peutz-Jeghers Syndrome	Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Biliary tract neoplasm, Enlarged polycyst...	ORPHA:2869
Congenital Disorder Of Glycosylation, Type Iil	Abnormal bleeding, Hepatomegaly, Pancytopenia, Elevated hepatic transaminase, Ventricular septal ...	OMIM:614576
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Hepatomegaly, Pancytopenia, Small for gestational age, Megaloblastic anemia, Thrombocytopenia, Ne...	OMIM:277380
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Lymphadenitis, Congestive heart failure, Dilated car...	OMIM:615895
Mitochondrial Complex I Deficiency, Nuclear Type 33	Small for gestational age, Neutropenia	OMIM:618253
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, He...	OMIM:235555
Cohen Syndrome	Small for gestational age, Leukopenia, Childhood-onset truncal obesity, Neutropenia	OMIM:216550
Fusariosis	Brain abscess, Fasciitis, Lung abscess, Abnormality of the spleen, Peritonitis, Neutropenia, Abno...	ORPHA:228119
Acute Promyelocytic Leukemia	Pancytopenia, Thrombocytopenia, Leukocytosis, Weight loss, Leukopenia, Neutropenia, Anemia	ORPHA:520
Bohring-Opitz Syndrome	Cardiomegaly, Abnormal cardiac septum morphology, Urinary retention, Bradycardia, Cholelithiasis,...	ORPHA:97297
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Abnorm...	ORPHA:158048
Juvenile Xanthogranuloma	Hyphema, Myeloproliferative disorder	ORPHA:158000
Craniofacioskeletal Syndrome	Absent gallbladder, Ventricular septal defect, Hypospadias, Cryptorchidism, Atrial septal defect,...	OMIM:300712
Shwachman-Diamond Syndrome 2	Normocytic anemia, Hepatomegaly, Neutropenia, Hyperechogenic pancreas, Failure to thrive, Thrombo...	OMIM:617941
Niemann-Pick Disease, Type A	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cel...	OMIM:257200
Necrotizing Enterocolitis	Small for gestational age, Leukocytosis, Peritonitis, Neutropenia, Thrombocytopenia	ORPHA:391673
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Retinoblastoma	Subretinal pigment epithelium hemorrhage, Hyphema, Pineoblastoma, Vitreous hemorrhage, Leukemia	ORPHA:790
3-Methylglutaconic Aciduria Type 7	Elevated hepatic transaminase, Hepatic steatosis, Infection associated neutropenia, Neutropenia	ORPHA:445038
Ketamine-Induced Biliary Dilatation	Abnormal biliary tract morphology, Dysuria	ORPHA:293807
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Abnormal mesentery morphology, Abnorma...	ORPHA:2075
Digeorge Syndrome	Renal insufficiency, Ventricular septal defect, Parathyroid agenesis, Unilateral renal agenesis, ...	OMIM:188400
Sepsis In Premature Infants	Hepatomegaly, Small for gestational age, Splenomegaly, Jaundice, Leukocytosis, Neutropenia, Throm...	ORPHA:90051
Eales Disease	Peripheral retinal neovascularization, Transient ischemic attack, Epistaxis, Vitreous hemorrhage,...	ORPHA:40923
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Splenomegaly, Thrombocytopenia, Flexion contracture, Leukopenia, Macrovesicular hep...	OMIM:617303
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Hypogonadotropic hypogonadism, Portal hypertension, Cardiomegal...	ORPHA:465508
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Brain abscess, Liver abscess, Neutrophilia, Abnormality of the pan...	ORPHA:54251
Glycogen Storage Disease Ixa1	Splenomegaly, Hepatomegaly, Elevated hepatic transaminase	OMIM:306000
Schimke Immuno-Osseous Dysplasia	Lymphopenia, Small for gestational age, Thrombocytopenia, Decreased proportion of naive CD8 T cel...	ORPHA:1830
Essential Thrombocythemia	Prolonged bleeding time, Transient ischemic attack, Myocardial infarction, Splenomegaly, Abnormal...	ORPHA:3318
Methylmalonic Aciduria, Cbla Type	Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Failure to thrive, Thrombocytopenia	OMIM:251100
3-Methylglutaconic Aciduria, Type Viia	Anisopoikilocytosis, Anemia, Neutropenia	OMIM:619835
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Hepatomegaly, Pericarditis, Lymphadenopathy	ORPHA:85414
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Renal insufficiency, Supraventricular arrhythmia, Raynaud phenomenon, Retinal hemorrhage, Renal c...	OMIM:611773
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Lymphopenia, Neutropenia	OMIM:614868
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Prolonged bleeding time, Pericarditis, Hemolytic anemia, Hepatomegal...	ORPHA:809
Congenital Disorder Of Glycosylation, Type Iic	Reduction of neutrophil motility, Neutrophilia, Cellulitis	OMIM:266265
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Hepatic failure, Ascites, Anemia	ORPHA:75233
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Omenn Syndrome	Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Nephrotic syndrome, Abno...	ORPHA:39041
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff...	OMIM:612714
Trichothiodystrophy 3, Photosensitive	Lymphopenia, Failure to thrive, Neutropenia	OMIM:616395
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Exudative Vitreoretinopathy 4	Vitreous hemorrhage	OMIM:601813
Tyrosinemia, Type I	Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Acute hepatic failure, Elevated h...	OMIM:276700
Senior-Boichis Syndrome	Elevated hepatic transaminase, Malformation of the hepatic ductal plate, Portal hypertension, Con...	ORPHA:84081
Prolidase Deficiency	Hepatomegaly, Petechiae, Elevated circulating aspartate aminotransferase concentration, Hyperimid...	OMIM:170100
Dubin-Johnson Syndrome	Hepatomegaly, Abnormal urinary color, Jaundice, Biliary tract abnormality, Abnormality of the liver	ORPHA:234
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
American Trypanosomiasis	Hepatomegaly, Myocarditis, Congestive heart failure, Splenomegaly, Lymphadenopathy, Cardiomyopath...	ORPHA:3386
Q Fever	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Peric...	ORPHA:781
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Triploidy	Hepatomegaly, Hypoplasia of penis, Hypospadias, Abnormality of the pancreas, Cryptorchidism, Abno...	ORPHA:3376
Dominant Beta-Thalassemia	Hypoparathyroidism, Hypopituitarism, Extramedullary hematopoiesis, Decreased mean corpuscular hem...	ORPHA:231226
Pseudo-Torch Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Petechiae, Splenomegaly, Jaundi...	OMIM:251290
Immunodeficiency 36 With Lymphoproliferation	Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion of transitional ...	OMIM:616005
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Tachycardia, Neutrophilia, Acute myeloid leukemia, Eosinophilia,...	ORPHA:98849
Adams-Oliver Syndrome 5	Portal vein thrombosis, Hypersplenism, Splenomegaly, Right atrial enlargement, Pulmonic stenosis,...	OMIM:616028
Methylmalonic Acidemia With Homocystinuria Type Cblf	Reduced number of intrahepatic bile ducts, Failure to thrive, Neutropenia, Megaloblastic anemia	ORPHA:79284
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
3-Methylglutaconic Aciduria, Type Viib	Flexion contracture, Leukopenia, Neutropenia, Hepatic steatosis, Thrombocytopenia	OMIM:616271
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Thrombocytopenia, Reticulocytopenia, Leukopenia, Panniculitis, B lymphocytopenia, Neutropenia, Ly...	ORPHA:508542
Schimke Immunoosseous Dysplasia	Pancytopenia, Small for gestational age, Thrombocytopenia, Abnormal T cell morphology, Neutropeni...	OMIM:242900
Aspergillosis	Eosinophilia, Hepatitis, Neutropenia	ORPHA:1163
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S...	OMIM:224120
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple...	OMIM:614700
Mucopolysaccharidosis, Type Iiia	Splenomegaly, Hepatomegaly, Heparan sulfate excretion in urine, Asymmetric septal hypertrophy	OMIM:252900
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Beta-Thalassemia Major	Extramedullary hematopoiesis, Hepatic fibrosis, Hypoparathyroidism, Hepatomegaly, Anemia of inade...	ORPHA:231214
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal erythrocyte enzyme level, Splenomegaly, Hep...	ORPHA:264580
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Scrub Typhus	Abnormal bleeding, Renal insufficiency, Myocarditis, Splenomegaly, Lymphadenopathy, Hypotension	ORPHA:83317
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Hepatosplenomeg...	OMIM:619644
Hermansky-Pudlak Syndrome 2	Hepatomegaly, Absent platelet dense granules, Splenomegaly, Hepatosplenomegaly, Enlarged platelet...	OMIM:608233
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	OMIM:251880
Mcleod Syndrome	Hepatomegaly, Atrial fibrillation, Elevated circulating aspartate aminotransferase concentration,...	OMIM:300842
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Ventricular septal defect, Decreased response to growth hormone stimulation test, H...	OMIM:602782
Myelofibrosis	Splenomegaly, Myeloproliferative disorder, Purpura	OMIM:254450
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Ventricular septal defect, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidis...	ORPHA:1655
Immunodeficiency 23	Hemolytic anemia, Failure to thrive, Abscess, Eosinophilia, Neutropenia, Lymphopenia	OMIM:615816
Vacterl/Vater Association	Bifid scrotum, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Ectopic kidney, Ab...	ORPHA:887
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Septate vagina, Complete atrioventricular canal defect, Uterus didelphys, Mic...	OMIM:617925
Diamond-Blackfan Anemia 11	Anemia of inadequate production, Neutropenia	OMIM:614900
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Congestive heart failure, Splenomegaly, Polycystic ovaries, Hypertension, Cirrhosis...	ORPHA:79083
Tetrasomy 9P	Absent gallbladder, Pericarditis, Dextrocardia, Raynaud phenomenon, Cryptorchidism, Jaundice, Bil...	ORPHA:3310
Macrocephaly/Autism Syndrome	Hepatomegaly, Penile freckling, Splenomegaly, Hydrocele testis, Lymphopenia	OMIM:605309
Atelis Syndrome 2	Thrombocytopenia, Supravalvar pulmonary stenosis, Vitreous hemorrhage, Pulmonic stenosis, Anemia	OMIM:620185
Williams Syndrome	Hypoplasia of penis, Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Nephrocalcinosis...	ORPHA:904
Exudative Vitreoretinopathy 1	Vitreous hemorrhage, Retinal neovascularization	OMIM:133780
Meckel Syndrome, Type 4	Atrial septal defect, Bile duct proliferation, Ventricular septal defect, Renal cyst	OMIM:611134
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Developmental Delay, Hypotonia, And Impaired Language	Neutropenia	OMIM:620012
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Splenomegaly, Hepatomegaly, Reduced renal corticomedullary differentiation	OMIM:618541
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Hepatocellular car...	OMIM:232220
Familial Exudative Vitreoretinopathy	Vitreous hemorrhage, Macular telangiectasia, Retinal neovascularization	ORPHA:891
Chédiak-Higashi Syndrome	Elevated hepatic transaminase, Abnormal leukocyte morphology, Pancytopenia, Splenomegaly, Jaundic...	ORPHA:167
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Acute hepatic failure, Pancytopenia, Failure to thrive in infancy, Cholangitis, Portal hypertensi...	ORPHA:228426
Fanconi Anemia, Complementation Group E	Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thromb...	OMIM:600901
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Aortic valve calcification,...	OMIM:231005
Vitreoretinochoroidopathy	Vitreous hemorrhage, Retinal neovascularization	OMIM:193220
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop...	OMIM:616100
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Hepatomegaly, Neutropenia, Microcytic anemia	OMIM:251900
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Hepatomegaly, Tricuspid regurgitation, Elevated hepatic tran...	OMIM:300972
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Elevated hepatic transaminase, Failure to thrive, Small for gestational age, Neutropenia	OMIM:615471
Hemophagocytic Lymphohistiocytosis, Familial, 2	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Thrombocytopenia, Splenomegaly, Jaundi...	OMIM:603553
Meckel Syndrome, Type 5	Bile duct proliferation, Renal cyst	OMIM:611561
Syndromic Diarrhea	Aortic regurgitation, Hepatomegaly, Lymphopenia, Ventricular septal defect, Bicuspid aortic valve...	ORPHA:84064
Hermansky-Pudlak Syndrome 10	Splenomegaly, Hepatomegaly, Neutropenia	OMIM:617050
Fanconi Anemia, Complementation Group I	Neutropenia, Decreased body weight	OMIM:609053
Steinert Myotonic Dystrophy	Elevated hepatic transaminase, Endometrial carcinoma, Atrial fibrillation, Prolonged QRS complex,...	ORPHA:273
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Elevated hepatic transaminase, Autoimmune hemolytic anemia, Failure to thrive in infancy, Cachexi...	ORPHA:37042
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy...	ORPHA:86843
Fanconi Anemia, Complementation Group C	Pancytopenia, Small for gestational age, Thrombocytopenia, Flexion contracture, Reticulocytopenia...	OMIM:227645
Fanconi Anemia, Complementation Group A	Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thromb...	OMIM:227650
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymph...	OMIM:235255
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Nephrocalcinos...	OMIM:616084
Steinfeld Syndrome	Absent gallbladder, Abnormal heart morphology	OMIM:184705
Trisomy 10P	Absent gallbladder, Multiple renal cysts, Rectovaginal fistula, Abnormal heart morphology	ORPHA:171929
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Leukopenia, Hepatic hemangioma, Microangiopathic hemolytic ane...	ORPHA:2330
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov...	OMIM:264800
Familial Thrombocytosis	Abnormal bleeding, Acute myeloid leukemia, Transient ischemic attack, Thrombocytosis, Splenomegal...	ORPHA:71493
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal...	OMIM:306955
Joubert Syndrome 6	Bile duct proliferation, Hepatic fibrosis, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:610688
Persistent Hyperplastic Primary Vitreous	Hemorrhage of the eye	ORPHA:91495
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Leukopenia, Prolonged pr...	OMIM:267700
Uveal Melanoma	Vitreous hemorrhage	ORPHA:39044
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Lipodystrophy, Failure to thrive in infancy, Leukocytosis, Panniculitis, Increased ...	OMIM:617099
Immunodeficiency 60 And Autoimmunity	Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count	OMIM:618394
Reynolds Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Raynaud phenomenon, Spl...	OMIM:613471
Scheie Syndrome	Aortic regurgitation, Hepatomegaly, Mucopolysacchariduria, Splenomegaly	ORPHA:93474
Sarcoidosis, Susceptibility To, 2	Splenomegaly, Pulmonary arterial hypertension, Mediastinal lymphadenopathy, Hepatomegaly	OMIM:612387
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile...	ORPHA:562639
Rift Valley Fever	Abnormal bleeding, Elevated hepatic transaminase, Hematemesis, Thrombocytopenia, Jaundice, Retina...	ORPHA:319251
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bifid scrotum, Bicuspid aortic valve, Urinary incontinence, Asplenia, Vesicoureteral reflux, Webb...	ORPHA:261552
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla...	OMIM:250250
Pseudoxanthoma Elasticum	Abnormal endocardium morphology, Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of ...	ORPHA:758
Poikiloderma With Neutropenia	Splenomegaly, Leukopenia, Neutropenia	OMIM:604173
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia	OMIM:618398
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Joint contracture, Failure to thrive, Neutropenia	OMIM:618005
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Bile duct polyp, Biliary tract abnormality, Abnormality of the ureter, ...	OMIM:175200
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chr...	ORPHA:100085
Pancreatic Agenesis-Holoprosencephaly Syndrome	Absent gallbladder, Pancreatic aplasia	ORPHA:556955
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b...	ORPHA:3261
Agammaglobulinemia 1, Autosomal Recessive	B lymphocytopenia, Failure to thrive, Rectal abscess, Neutropenia	OMIM:601495
Zttk Syndrome	Aortic regurgitation, Absent gallbladder, Ventricular septal defect, Polyuria, Unilateral renal a...	OMIM:617140
Cerebrotendinous Xanthomatosis	Cholelithiasis, Abnormal atrial septum morphology, Prolonged neonatal jaundice	ORPHA:909
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Portal hypertension, Raynaud phenomeno...	OMIM:615688
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Angina pectoris, Splenomegaly, Vacuolated lymphocytes, Low-output congestive heart ...	ORPHA:565612
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Urinary incontinence, Subarac...	OMIM:232300
Gaucher Disease Type 3	Hepatomegaly, Mitral valve calcification, Pancytopenia, Abnormal heart valve morphology, Proteinu...	ORPHA:77261
Ring Chromosome 13 Syndrome	Bifid scrotum, Hypoplasia of the gallbladder, Hypospadias, Ambiguous genitalia, Abnormal renal ph...	ORPHA:96176
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Prolonged prothrombin time, 3-Methylglutaconic aciduria, Bile duct...	OMIM:618329
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Leukopenia, Aminoaciduria,...	OMIM:619991
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Renal ...	OMIM:610199
Diamond-Blackfan Anemia 7	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612562
Meckel Syndrome, Type 2	Bile duct proliferation, Renal cyst	OMIM:603194
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy	OMIM:619183
Metachromatic Leukodystrophy, Adult Form	Urinary incontinence, Cholecystitis, Orthostatic hypotension due to autonomic dysfunction, Neopla...	ORPHA:309271
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop...	OMIM:615952
Leigh Syndrome	Multiple joint contractures, Hepatic failure, Neutropenia, Failure to thrive, Anemia	ORPHA:506
Toxic Epidermal Necrolysis	Acute hepatic failure, Elevated hepatic transaminase, Thrombocytopenia, Weight loss, Neutropenia,...	ORPHA:537
Hereditary Orotic Aciduria	Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Oroticaciduria,...	ORPHA:30
8P11.2 Deletion Syndrome	Hemolytic anemia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Splenomegaly, Cryptorchidis...	ORPHA:251066
Idiopathic Hypereosinophilic Syndrome	Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Neutrophil...	ORPHA:3260
Common Variable Immunodeficiency	Elevated hepatic transaminase, Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Vascu...	ORPHA:1572
Fucosidosis	Hepatomegaly, Mucopolysacchariduria, Abnormality of the gallbladder, Cardiomegaly	ORPHA:349
Niemann-Pick Disease, Type C1	Hepatomegaly, Fatal liver failure in infancy, Fetal ascites, Bone-marrow foam cells, Splenomegaly...	OMIM:257220
Gaisböck Syndrome	Angina pectoris, Myocardial infarction, Splenomegaly, Hypovolemia, Increased mean corpuscular hem...	ORPHA:90041
Brucellosis	Liver abscess, Leukopenia, Abnormality of the liver, Hepatomegaly, Leukocytosis, Epididymitis, Ly...	ORPHA:1304
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Stag...	OMIM:249100
Pediatric-Onset Graves Disease	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Neutropenia in presence of a...	ORPHA:525731
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Ventricula...	OMIM:619525
Agammaglobulinemia, X-Linked	Hepatocellular carcinoma, Enteroviral hepatitis, T lymphocytopenia, B lymphocytopenia, Neutropeni...	OMIM:300755
Cockayne Syndrome Type 3	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Neurogenic bladder, Hydroureter...	ORPHA:90324
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Absent gallbladder, Pancreatic aplasia, Elevated circulating alanine aminotransferase concentrati...	OMIM:618500
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Hyphema	OMIM:221900
Trichohepatoenteric Syndrome 1	Aortic regurgitation, Hepatomegaly, Ventricular septal defect, Hypospadias, Increased mean platel...	OMIM:222470
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit...	ORPHA:100086
Fanconi Anemia, Complementation Group D2	Pancytopenia, Small for gestational age, Thrombocytopenia, Reticulocytopenia, Leukemia, Neutropen...	OMIM:227646
Familial Mediterranean Fever	Acute hepatic failure, Pericarditis, Proteinuria, Myocardial infarction, Orchitis, Splenomegaly, ...	ORPHA:342
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Neutropenia	OMIM:617827
D-Bifunctional Protein Deficiency	Elevated hepatic transaminase, Hepatomegaly, Fetal ascites, Splenomegaly, Cholestasis, Renal cyst...	OMIM:261515
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia,...	OMIM:102700
Trichothiodystrophy	Multiple joint contractures, Absence of subcutaneous fat, Increased mean corpuscular hemoglobin c...	ORPHA:33364
Khan-Khan-Katsanis Syndrome	Failure to thrive, Corneal scarring, Neutropenia, Joint contracture, Lymphopenia, Anemia	OMIM:618460
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder, Overriding aorta, Tetralogy of Fallot	ORPHA:3186
Diamond-Blackfan Anemia	Acute myeloid leukemia, Small for gestational age, Pure red cell aplasia, Erythroid hypoplasia, R...	ORPHA:124
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Lymphadenopathy, Anemia, Lymphopenia, ...	OMIM:617591
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Renal insufficiency, Polycystic liver disease, Pancreatic fibrosis, Proteinuria, Pancreatic cysts...	OMIM:208500
Relapsing Fever	Elevated hepatic transaminase, Neutrophilia, Thrombocytopenia, Jaundice, Leukocytosis, Leukopenia...	ORPHA:91547
Cranioectodermal Dysplasia 2	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Cholangitis, Splenomegaly, Bili...	OMIM:613610
Purine Nucleoside Phosphorylase Deficiency	Lymphopenia, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Spl...	OMIM:613179
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp...	ORPHA:436159
Hyperparathyroidism, Neonatal Severe	Hepatomegaly, Hyperphosphaturia, Polyuria, Splenomegaly, Primary hyperparathyroidism, Hypercalciu...	OMIM:239200
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Ventricular septal defect, Microvesicular hepatic steatosis, Sple...	OMIM:619418
Wilson Disease	Acute hepatic failure, Aminoaciduria, Hepatic steatosis, Hypoparathyroidism, Hepatomegaly, Hemoly...	OMIM:277900
Sitosterolemia 1	Abnormal bleeding, Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytos...	OMIM:210250
Cohen Syndrome	Failure to thrive in infancy, Obesity, Neutropenia	ORPHA:193
Retinoblastoma	Vitreous hemorrhage, Leukemia, Pinealoma	OMIM:180200
Saul-Wilson Syndrome	Neutropenia	OMIM:618150
Lysinuric Protein Intolerance	Hepatomegaly, Splenomegaly, Stage 5 chronic kidney disease, Anemia, Leukopenia, Aminoaciduria, Hy...	OMIM:222700
Peters-Plus Syndrome	Ureteral duplication, Hypoplasia of the vagina, Ventricular septal defect, Bilobate gallbladder, ...	OMIM:261540
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatomegaly, Failure to thrive, Chronic neutropenia, Hepatocellular adenoma, Hepatocellular carc...	ORPHA:79259
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Failure to thrive, Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:277400
Spondyloenchondrodysplasia With Immune Dysregulation	T lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Neutropenia	OMIM:607944
Vici Syndrome	Lymphopenia, Leukopenia, T lymphocytopenia, Neutropenia, Decreased proportion of CD4-positive hel...	OMIM:242840
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le...	ORPHA:906
Chronic Granulomatous Disease	Hepatomegaly, Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lymphadenopathy	ORPHA:379
Whim Syndrome	Lymphopenia, Neutropenia, Abnormal neutrophil morphology, Cellulitis	ORPHA:51636
Kikuchi-Fujimoto Disease	Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Myocarditis, Cervical l...	ORPHA:50918
Cartilage-Hair Hypoplasia	Hepatomegaly, Abnormality of the pancreas, Neutropenia, Failure to thrive, Anemia	ORPHA:175
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Secundum atrial septal defect, Primum atrial septal defect, Inlet ...	OMIM:619534
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233710
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	ORPHA:309854
Renal Cysts And Diabetes Syndrome	Elevated hepatic transaminase, Hypospadias, Proteinuria, Unilateral renal agenesis, Biliary tract...	OMIM:137920
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, Retinal hemorrhage, Mitral val...	OMIM:177850
Rothmund-Thomson Syndrome	Aplastic anemia, Small for gestational age, Abnormal dental enamel morphology, Neutropenia, Leuke...	ORPHA:2909
Hyper-Igd Syndrome	Neutrophilia, Lymphadenitis, Leukocytosis, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Ren...	OMIM:260920
Familial Tumoral Calcinosis	Splenomegaly, Hepatomegaly, Nephrocalcinosis	ORPHA:53715
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233690
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Megaloblastic anemia, Jaundice, Neutropenia, Failure to thrive, Thrombocytopenia	ORPHA:79282
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Splenom...	OMIM:269700
Fanconi Anemia, Complementation Group Q	Biliary atresia, Bone marrow hypocellularity, Primum atrial septal defect	OMIM:615272
Rothmund-Thomson Syndrome Type 1	Aplastic anemia, Small for gestational age, Abnormal dental enamel morphology, Neutropenia, Leuke...	ORPHA:221008
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Splenomegaly, Labial hypertrophy...	OMIM:608594
Glycogen Storage Disease Ic	Hepatomegaly, Cyclic neutropenia, Chronic pancreatitis, Hepatocellular carcinoma, Hepatoblastoma	OMIM:232240
Meckel Syndrome, Type 1	Accessory spleen, External genital hypoplasia, Malformation of the hepatic ductal plate, Asplenia...	OMIM:249000
Psoriasis 14, Pustular	Leukocytosis, Neutrophilia, Cholangitis	OMIM:614204
Incontinentia Pigmenti	Eosinophilia, Supernumerary nipple, Leukocytosis, Retinal hemorrhage, Breast aplasia, Hypoplastic...	OMIM:308300
Phacoanaphylactic Uveitis	Hyphema, Retinal arteritis	ORPHA:209959
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Pericarditis, Orchitis, Splenomegaly, Leukocytosis, Vasculitis, Peritonitis, Lymphadenopathy, Abn...	ORPHA:32960
Apolipoprotein C-Ii Deficiency	Splenomegaly, Hepatomegaly, Pancreatitis	OMIM:207750
Rothmund-Thomson Syndrome Type 2	Aplastic anemia, Small for gestational age, Abnormal dental enamel morphology, Neutropenia, Leuke...	ORPHA:221016
Retinal Arteries, Tortuosity Of	Retinal hemorrhage	OMIM:180000
Hermansky-Pudlak Syndrome	Neutropenia, Abnormal dental enamel morphology, Weight loss	ORPHA:79430
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Transient ischemic attack, Unilateral renal agenesis, Horseshoe kidney, Abnor...	ORPHA:500150
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Sterile pyuria, Renal tubular epithelial necrosis, Beta 2-microglobulinuria, V...	ORPHA:91500
Primary Biliary Cholangitis	Orthostatic hypotension, Portal hypertension, Jaundice, Hepatic failure, Biliary cirrhosis, Hepat...	ORPHA:186
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Zygomycosis	Brain abscess, Fasciitis, Peritonitis, Neutropenia, Hepatitis, Cellulitis, Splenic abscess, Pancr...	ORPHA:73263
Intellectual Developmental Disorder, Autosomal Dominant 54	Small for gestational age, Neutropenia	OMIM:617799
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:306400
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Splenomegaly, Renal hypoplasia	OMIM:612918
Fundus Dystrophy, Pseudoinflammatory, Recessive Form	Retinal hemorrhage	OMIM:264420
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Neutrophilia, Failure to thrive in infancy, Abscess, Splenomegaly	OMIM:612852
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly	OMIM:238600
Macular Degeneration, Age-Related, 1	Macular hemorrhage	OMIM:603075
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aciduria, Microvesicular hepa...	OMIM:203700
Familial Adenomatous Polyposis	Cholangiocarcinoma, Pancreatic adenocarcinoma, Goiter, Pituitary adenoma, Neoplasm of the gallbla...	ORPHA:733
Granulomatosis With Polyangiitis	Retinal hemorrhage, Granulomatosis, Localized pulmonary hemorrhage, Diffuse alveolar hemorrhage	OMIM:608710
Lethal Congenital Contracture Syndrome 5	Subdural hemorrhage, Retinal hemorrhage	OMIM:615368
Incontinentia Pigmenti	Telangiectasia of the skin, Eosinophilia, Supernumerary nipple, Congestive heart failure, Retinal...	ORPHA:464
Cockayne Syndrome	Elevated hepatic transaminase, Hepatomegaly, Neurogenic bladder, Renal insufficiency, Proteinuria...	ORPHA:191
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Inguinal hernia, Transient neutropenia, Chronic neutropenia, Large for gestational age, Camptodac...	ORPHA:500095
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Ventricular septal defect, Hepatitis, Hypoplasia of the thymus, Rect...	ORPHA:436252
Selective Igm Deficiency	Decreased proportion of CD4-positive T cells, Fasciitis, Autoimmune thrombocytopenia, Decreased p...	ORPHA:331235
3-Methylglutaconic Aciduria, Type Viii	Jaundice, Failure to thrive, Neutropenia	OMIM:617248
Hyperlipoproteinemia, Type Id	Splenomegaly, Hepatomegaly, Recurrent pancreatitis, Pancreatitis	OMIM:615947
Central Retinal Vein Occlusion	Intraretinal hemorrhage, Retinal neovascularization	ORPHA:411527
X-Linked Intellectual Disability, Nascimento Type	Recurrent cutaneous abscess formation, Neutropenia	ORPHA:163956
Glutaryl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Chronic kidney disease, Subdural hemorrhage, Retinal hemorrhage	ORPHA:25
Thauvin-Robinet-Faivre Syndrome	Inguinal hernia, Transient neutropenia, Large for gestational age	OMIM:617107
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Pericardial effusion, Mediastinal lympha...	OMIM:181000
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated hepatic transaminase, Pancytopenia, Small scrotum, Portal hypertension, Cholestasis, Bil...	OMIM:613658
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Hyperphosphaturia, Transient ischemic attack, Cardiomegaly, Pericardial ...	ORPHA:51608
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Neutropenia	OMIM:271510
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Hepatitis, Neutropenia in presence of a...	ORPHA:391487
Pneumocystosis	Abnormal neutrophil count, Weight loss	ORPHA:723
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Ventricular septal defect, Retinal hemorrhage, Hypertension, Bradycardia	OMIM:614653
Sweet Syndrome	Acute myeloid leukemia, Neutrophilia, Leukocytosis, Chronic lymphatic leukemia, Panniculitis, Ane...	ORPHA:3243
Familial Drusen	Macular hemorrhage	ORPHA:75376
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hepatomegaly, Splenomegaly, Hydrometrocolpos, Horseshoe kidney, Atrioventricular canal defect, Va...	OMIM:617088
Aspartylglucosaminuria	Hepatomegaly, Vacuolated lymphocytes, Hernia, Neutropenia	OMIM:208400
Neurofibroma	Enlargement of parotid gland, Intestinal bleeding, Abnormal biliary tract morphology	ORPHA:252183
Smith-Lemli-Opitz Syndrome	Ureteropelvic junction obstruction, Hypoplasia of penis, Multicystic kidney dysplasia, Ventricula...	ORPHA:818
Johanson-Blizzard Syndrome	Hepatic fibrosis, Atrial septal defect, Micropenis, Hepatomegaly, Hypospadias, Elevated circulati...	OMIM:243800
Wolf-Hirschhorn Syndrome	Abnormal heart valve morphology, Hypospadias, Cryptorchidism, Abnormality of the gallbladder, Abn...	ORPHA:280
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Atypical scarring of skin, Neutropenia, Anemia, Elevated hepatic transaminase	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	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Retinal hemorrhage, Hyp...	OMIM:609049
Trichinellosis	Retinal hemorrhage	ORPHA:863
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hemolytic anemia, Cerebral hemorrhage, Retinal hemorrhage, Ischemic stroke, Corneal neovasculariz...	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 20.1 Data