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Gene: Dnase2a MGI:1329019

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

deoxyribonuclease II alpha

Synonyms:

N/A

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No 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.

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.

Phenotype associated images not available

Human diseases caused by Dnase2a 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 Dnase2a (1 diseases)
Human diseases predicted to be associated with Dnase2a (428 diseases)

The table below shows human diseases associated to Dnase2a by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Autoinflammatory-Pancytopenia Syndrome		Type I diabetes mellitus, Pancytopenia, Hemophagocytosis, Hepatosplenomegaly	OMIM:619858

The table below shows human diseases predicted to be associated to Dnase2a by phenotypic similarity.

Disease	Matching phenotypes	Source
Diamond-Blackfan Anemia 19	Erythroid hypoplasia, Steroid-responsive anemia, Anemia	OMIM:618312
Diamond-Blackfan Anemia-Like	Steroid-responsive anemia, Pure red cell aplasia	OMIM:617911
Transient Erythroblastopenia Of Childhood	Transient erythroblastopenia, Anemia	OMIM:227050
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death, Congenital diaphragmatic hernia	OMIM:226735
Hernia, Anterior Diaphragmatic	Neonatal death, Congenital diaphragmatic hernia	OMIM:306950
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Diamond-Blackfan Anemia 17	Anemia	OMIM:617409
Fetal Cytomegalovirus Syndrome	Splenomegaly, Anemia	ORPHA:294
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Anemia, Sideroblastic, 4	Abnormal erythrocyte morphology, Sideroblastic anemia	OMIM:182170
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Reticular Dysgenesis	Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus	OMIM:267500
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Hemoglobin E-Beta-Thalassemia Syndrome	Abnormal hemoglobin, Anemia	ORPHA:231249
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia	OMIM:618310
Reticuloendotheliosis, X-Linked	Lymphadenopathy, Anemia, Hepatosplenomegaly	OMIM:312500
Diaphragmatic Hernia, Congenital	Congenital diaphragmatic hernia	OMIM:142340
Diaphragmatic Hernia 3	Congenital diaphragmatic hernia	OMIM:610187
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia	Anemia	ORPHA:2802
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia	OMIM:205950
Diamond-Blackfan Anemia 13	Normocytic anemia	OMIM:615909
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia	ORPHA:46532
Heinz Body Anemias	Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia	OMIM:140700
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Anemia, Hepatosplenomegaly	OMIM:273680
Hereditary Continuous Muscle Fiber Activity	Congenital diaphragmatic hernia, Type 1 muscle fiber predominance	ORPHA:972
Chromosome 5Q Deletion Syndrome	Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia	OMIM:153550
Hemoglobin H Disease	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Immunodeficiency 42	Splenomegaly, Hypoplasia of the thymus	OMIM:616622
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Leukocytosis, Anemia	OMIM:619398
Nephronophthisis	Anemia	ORPHA:655
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia	OMIM:133180
Isobutyryl-Coa Dehydrogenase Deficiency	Anemia	OMIM:611283
Congenital Atransferrinemia	Hypothyroidism, Anemia	ORPHA:1195
Acute Erythroid Leukemia	Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocellularity, Anemia	ORPHA:318
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Spastic Paraplegia And Evans Syndrome	Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia	OMIM:601608
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Neuronal Intestinal Pseudoobstruction	Patent ductus arteriosus, Congenital diaphragmatic hernia	ORPHA:99811
8p23.1 deletion syndrome	Congenital diaphragmatic hernia	DECIPHER:39
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Bone Marrow Failure Syndrome 2	Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:615715
Distal 7Q11.23 Microduplication Syndrome	Patent ductus arteriosus, Congenital diaphragmatic hernia	ORPHA:261102
Glutathione Peroxidase Deficiency	Heinz bodies, Compensated hemolytic anemia	OMIM:614164
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Trimethylaminuria	Splenomegaly, Anemia, Neutropenia	OMIM:602079
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Diamond-Blackfan Anemia 16	Anemia	OMIM:617408
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Hyperbilirubinemia, Shunt, Primary	Splenomegaly, Reticulocytosis, Anemia of inadequate production, Erythroid hyperplasia	OMIM:237800
Microphthalmia, Syndromic 12	Neonatal death, Congenital diaphragmatic hernia	OMIM:615524
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Omenn Syndrome	Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Hypoplas...	OMIM:603554
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly	OMIM:608898
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Diamond-Blackfan Anemia 9	Anemia	OMIM:613308
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Cholelithi...	ORPHA:846
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane	Nonspherocytic hemolytic anemia	OMIM:206300
Adenosine Triphosphatase Deficiency, Anemia Due To	Nonspherocytic hemolytic anemia	OMIM:102800
Hemolytic Anemia With Thermal Sensitivity Of Red Cells	Congenital hemolytic anemia	OMIM:235370
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain	Compensated hemolytic anemia	OMIM:142309
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Adenylate Kinase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:612631
6-Phosphogluconolactonase Deficiency	Hemolytic anemia	OMIM:172150
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Anemia	OMIM:616176
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Cutis Laxa-Marfanoid Syndrome	Flexion contracture, Congenital diaphragmatic hernia	ORPHA:171719
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery...	OMIM:615631
Fetal Encasement Syndrome	Omphalocele, Congenital diaphragmatic hernia	OMIM:613630
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Hypoplasia of the ...	OMIM:300400
Anemia, Hypochromic Microcytic, With Iron Overload 1	Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia	OMIM:206100
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia	OMIM:615285
Hyperlysinemia, Type I	Anemia	OMIM:238700
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Congenital diaphragmatic hernia	OMIM:614100
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Isolated Anencephaly	Omphalocele, Thymus hyperplasia, Congenital diaphragmatic hernia	ORPHA:563609
Acute Myelomonocytic Leukemia	Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia	ORPHA:517
Glutathione Synthetase Deficiency	Hemolytic anemia	ORPHA:32
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto...	ORPHA:67044
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:617241
Congenital Diaphragmatic Hernia	Aplasia/Hypoplasia of the diaphragm, Congenital diaphragmatic hernia	ORPHA:2140
Bleeding Disorder, Platelet-Type, 16	Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Thrombocytopenia	OMIM:187800
Anemia, Sideroblastic, 1	Sideroblastic anemia, Macrocytic anemia, Anemia of inadequate production, Hypochromic microcytic ...	OMIM:300751
Hydrops Fetalis, Nonimmune	Anemia	OMIM:236750
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Congenital diaphragmatic hernia	ORPHA:438134
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Omphalocele, Congenital diaphragmatic hernia	ORPHA:2141
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:230450
Anemia, Congenital Dyserythropoietic, Type Ii	Splenomegaly, Reticulocytosis, Cholelithiasis, Anemia of inadequate production	OMIM:224100
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin, Elevated circulating erythropoietin con...	OMIM:617907
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Diamond-Blackfan Anemia 10	Macrocytic anemia, Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia, Patent ductus ...	OMIM:613309
Fanconi Anemia, Complementation Group G	Thrombocytopenia, Leukemia, Anemia, Neutropenia	OMIM:614082
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Omphalocele, Abnormality of the diaphragm, Congenital diaphragmatic hernia	OMIM:601163
Diamond-Blackfan Anemia 20	Erythroid hypoplasia, Anemia	OMIM:618313
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,...	OMIM:619313
Fetal Parvovirus Syndrome	Thrombocytopenia, Anemia	ORPHA:295
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin, Elevated circulating erythropoietin con...	OMIM:611783
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Anemia	ORPHA:1802
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal...	OMIM:612690
Greig Cephalopolysyndactyly Syndrome	Umbilical hernia, Congenital diaphragmatic hernia	ORPHA:380
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic anemia, Macrocytic dyserythropoietic anemia	OMIM:619789
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom...	ORPHA:75564
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:616435
Acrocallosal Syndrome	Inguinal hernia, Congenital diaphragmatic hernia	ORPHA:36
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Diaphragmatic Hernia 2	Agenesis of the diaphragm, Congenital diaphragmatic hernia	OMIM:222400
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Hemophagocytic Lymphohistiocytosis, Familial, 4	Splenomegaly, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia	OMIM:603552
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Macrocytic anemia, Granulocytopenia, Congenital diaphragmatic hernia	OMIM:606164
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Type II diabet...	OMIM:616860
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Mu-Heavy Chain Disease	Splenomegaly, Abnormal B cell count, Anemia, Lymphadenopathy	ORPHA:100024
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Malaria	Anemia, Thrombocytopenia	ORPHA:673
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog...	OMIM:616689
Ataxia-Pancytopenia Syndrome	Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto...	OMIM:159550
Formiminoglutamic Aciduria	Anemia, Megaloblastic anemia	ORPHA:51208
Niemann-Pick Disease, Type B	Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia	OMIM:607616
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
X-Linked Sideroblastic Anemia	Splenomegaly, Anemia	ORPHA:75563
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Increased muscle glycogen content, Skeletal muscle atrophy, Anemia	ORPHA:371
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Elliptocytosis, Anemia of inadequate production	OMIM:166910
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity	OMIM:616871
Anemia, Hypochromic Microcytic, With Iron Overload 2	Splenomegaly, Decreased mean corpuscular volume, Hypogonadism, Poikilocytosis, Hypochromia, Anemia	OMIM:615234
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypersplenism, Thrombocytopenia, Anemia, Splenomegaly	OMIM:610539
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Stormorken-Sjaastad-Langslet Syndrome	Asplenia, Anemia	ORPHA:3204
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Congenital diaphragmatic hernia	ORPHA:1166
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Anemia	OMIM:613101
Fanconi Anemia, Complementation Group V	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:617243
Glutamate-Cysteine Ligase Deficiency	Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis	ORPHA:33574
Linear Skin Defects With Multiple Congenital Anomalies 2	Congenital diaphragmatic hernia	OMIM:300887
Immunodeficiency 46	Neutropenia, Anemia, Intermittent thrombocytopenia	OMIM:616740
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut...	OMIM:618849
Pernicious Anemia	Megaloblastic anemia	OMIM:170900
Alpha-Heavy Chain Disease	Splenomegaly, Anemia, Lymphadenopathy	ORPHA:100025
Donnai-Barrow Syndrome	Omphalocele, Umbilical hernia, Congenital diaphragmatic hernia	ORPHA:2143
Dohle Bodies And Leukemia	Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia	OMIM:223350
Diamond-Blackfan Anemia 12	Macrocytic anemia, Reticulocytopenia, Normochromic anemia	OMIM:615550
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Multicentric Carpotarsal Osteolysis Syndrome	Congenital diaphragmatic hernia	OMIM:166300
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia	OMIM:612527
Orthostatic Hypotension 2	Anemia	OMIM:618182
Schisis Association	Omphalocele, Congenital diaphragmatic hernia	ORPHA:63862
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Thrombocytopenia, Anemia	OMIM:615085
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis	OMIM:616649
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hydrocele testis, Anemia, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia	OMIM:616738
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Spherocytosis, Type 4	Splenomegaly, Hemolytic anemia, Spherocytosis, Reticulocytosis	OMIM:612653
Bone Marrow Failure Syndrome 4	Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:618116
Immunodeficiency 9	Hypoplasia of the thymus	OMIM:612782
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Increased connective tissue, Scarring alopecia of scalp, Motheaten muscle fibers, Muscular dystro...	OMIM:226670
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt...	OMIM:243150
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis	OMIM:206200
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Anemia	OMIM:614514
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hyperparathyroidism, Anemia	ORPHA:2668
Reticular Dysgenesis	Anemia, Leukopenia, Aplasia/Hypoplasia of the thymus, Abnormality of neutrophils	ORPHA:33355
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Normochromic anemia, Nonspherocytic hemolytic a...	OMIM:235700
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Death in infancy, Patent ductus arteriosus, Congenital diaphragmatic hernia	ORPHA:1120
Craniofrontonasal Dysplasia	Camptodactyly of finger, Congenital diaphragmatic hernia	ORPHA:1520
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Cebalid Syndrome	Congenital diaphragmatic hernia	OMIM:618774
Coffin-Siris Syndrome 3	Macroglossia, Umbilical hernia, Inguinal hernia, Central diaphragmatic hernia	OMIM:614608
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Hyperparathyroidism, Anemia	OMIM:618107
Pyropoikilocytosis, Hereditary	Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis	OMIM:266140
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple...	ORPHA:232
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, S...	OMIM:224120
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis	OMIM:300367
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Beta-Thalassemia	Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Chol...	ORPHA:848
Tonne-Kalscheuer Syndrome	Congenital diaphragmatic hernia	OMIM:300978
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Cholelithiasis	OMIM:182900
Xp22.13P22.2 Duplication Syndrome	Umbilical hernia, Congenital diaphragmatic hernia	ORPHA:284180
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Intermittent thrombocytopenia, Erythroid hypoplasia, Thrombocytopenia, Splenomegaly, Cryptorchidi...	OMIM:612541
Hemochromatosis, Type 2B	Splenomegaly, Hypogonadism, Anemia	OMIM:613313
Spherocytosis, Type 3	Hemolytic anemia, Spherocytosis	OMIM:270970
Amed Syndrome, Digenic	Acute myeloid leukemia, Adrenal hypoplasia, Anemia, Leukopenia, Bone marrow hypocellularity, Thro...	OMIM:619151
Gillessen-Kaesbach-Nishimura Syndrome	Omphalocele, Flexion contracture, Congenital diaphragmatic hernia	OMIM:263210
1Q41Q42 Microdeletion Syndrome	Hyposegmentation of neutrophil nuclei, Congenital diaphragmatic hernia	ORPHA:250999
Cooper-Jabs Syndrome	Umbilical hernia, Camptodactyly of finger, Congenital diaphragmatic hernia	ORPHA:1488
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:231095
Pericardial And Diaphragmatic Defect	Patent ductus arteriosus, Aplasia of the left hemidiaphragm, Congenital diaphragmatic hernia	ORPHA:2847
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Enlarged mesenteric lymph node, ...	OMIM:209950
Lesch-Nyhan Syndrome	Anemia	ORPHA:510
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnormal lymph node...	OMIM:612840
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Thrombocytopenia	ORPHA:88
Oslam Syndrome	Anemia	OMIM:165660
Diamond-Blackfan Anemia 5	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Leukopenia	OMIM:612528
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Elliptocytosis	OMIM:611804
Mitochondrial Complex I Deficiency, Nuclear Type 16	Aplasia of the left hemidiaphragm	OMIM:618238
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia	OMIM:611490
Proximal 16P11.2 Microduplication Syndrome	Congenital diaphragmatic hernia	ORPHA:370079
Elliptocytosis 3	Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia	OMIM:617948
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lymph node hypopl...	OMIM:602450
Senior-Loken Syndrome 4	Anemia	OMIM:606996
Non-Syndromic Posterior Hypospadias	Omphalocele, Congenital diaphragmatic hernia	ORPHA:95706
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Hypothyroidism, Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decreased mean corpus...	ORPHA:300298
Lymphoproliferative Syndrome 1	Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop...	OMIM:613011
Schnitzler Syndrome	Splenomegaly, Leukocytosis, Anemia, Lymphadenopathy	ORPHA:37748
Hydatidiform Mole	Hyperthyroidism, Anemia	ORPHA:99927
Acitretin/Etretinate Embryopathy	Hypoplasia of the thymus	ORPHA:40366
Ovalocytosis, Southeast Asian	Hemolytic anemia, Elliptocytosis	OMIM:166900
Serkal Syndrome	Congenital diaphragmatic hernia	ORPHA:139466
Elliptocytosis 2	Hemolytic anemia, Elliptocytosis, Reticulocytosis	OMIM:130600
15Q24 Microdeletion Syndrome	Hernia, Congenital diaphragmatic hernia	ORPHA:94065
Hemolytic Anemia, Congenital, X-Linked	Hemolytic anemia	OMIM:301015
Vitamin B12-Responsive Methylmalonic Acidemia	Anemia	ORPHA:28
Emanuel Syndrome	Torticollis, Inguinal hernia, Congenital diaphragmatic hernia, Patent ductus arteriosus, Joint co...	OMIM:609029
Jansen-De Vries Syndrome	Central diaphragmatic hernia	OMIM:617450
13Q12.3 Microdeletion Syndrome	Congenital diaphragmatic hernia, Camptodactyly	ORPHA:412035
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci...	OMIM:242700
Immunodeficiency 32B	Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytopenia, Thromb...	OMIM:226990
Transaldolase Deficiency	Thrombocytopenia, Anemia, Hepatosplenomegaly	ORPHA:101028
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Ferguson-Bonni Neurodevelopmental Syndrome	Congenital diaphragmatic hernia	OMIM:619699
Intellectual Disability-Strabismus Syndrome	Congenital diaphragmatic hernia, Patent ductus arteriosus, Achilles tendon contracture, Congenita...	ORPHA:363528
Trisomy 1Q	Omphalocele, Patent ductus arteriosus, Camptodactyly of finger, Congenital diaphragmatic hernia	ORPHA:261344
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia	OMIM:618398
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Aplasia of the thymus	ORPHA:3004
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Elbow flexion contracture, Congenital diaphragmatic hernia	OMIM:618022
Microphthalmia, Syndromic 9	Inguinal hernia, Congenital diaphragmatic hernia, Patent ductus arteriosus, Multilobulated spleen...	OMIM:601186
Zaki Syndrome	Patent ductus arteriosus, Congenital diaphragmatic hernia	OMIM:619648
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Inguinal hernia, Congenital diaphragmatic hernia	ORPHA:2063
Leishmaniasis	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia, Leukopenia, ...	ORPHA:507
Thoracoabdominal Syndrome	Omphalocele, Patent ductus arteriosus, Congenital diaphragmatic hernia, Ventral hernia	OMIM:313850
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Pancytopenia, Aplastic anemia, Mediastinal lymphadenopathy, Bone marrow hypocellularity, Myeloid ...	OMIM:614742
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Lymphad...	ORPHA:100026
46,Xx Sex Reversal 5	Aplasia of the left hemidiaphragm	OMIM:618901
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Axial Mesodermal Dysplasia Spectrum	Omphalocele, Abnormality of the spleen, Congenital diaphragmatic hernia	ORPHA:1834
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Anemia	OMIM:620296
Halperin-Birk Syndrome	Inguinal hernia, Congenital diaphragmatic hernia, Flexion contracture, Death in childhood, Umbili...	OMIM:618651
Hemochromatosis, Type 3	Lymphopenia, Hypogonadotropic hypogonadism, Anemia, Neutropenia	OMIM:604250
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le...	ORPHA:906
Primary Myelofibrosis	Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatos...	ORPHA:824
Emanuel Syndrome	Patent ductus arteriosus, Inguinal hernia, Multiple joint contractures, Congenital diaphragmatic ...	ORPHA:96170
Donnai-Barrow Syndrome	Omphalocele, Diaphragmatic eventration, Umbilical hernia, Congenital diaphragmatic hernia	OMIM:222448
Autosomal Recessive Spondylocostal Dysostosis	Umbilical hernia, Inguinal hernia, Camptodactyly of finger, Congenital diaphragmatic hernia	ORPHA:2311
Diffuse Neonatal Hemangiomatosis	Thrombocytopenia, Anemia	ORPHA:2123
Cinca Syndrome	Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia	OMIM:607115
Wolman Disease	Adrenal calcification, Bone-marrow foam cells, Splenomegaly, Adrenal insufficiency, Anemia	ORPHA:75233
Chromosome 15Q25 Deletion Syndrome	Inguinal hernia, Polysplenia, Macrocytic anemia, Congenital diaphragmatic hernia	OMIM:614294
Matthew-Wood Syndrome	Abnormal spleen morphology, Congenital diaphragmatic hernia	ORPHA:2470
Peroxisome Biogenesis Disorder 2A (Zellweger)	Cryptorchidism, Hypoplasia of the thymus	OMIM:214110
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,...	ORPHA:98870
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Central hypothyroidism, Lymphoc...	ORPHA:514
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Anemia	OMIM:613092
Copper Deficiency, Familial Benign	Anemia	OMIM:121270
Cutis Laxa, Autosomal Recessive, Type Ia	Umbilical hernia, Inguinal hernia, Congenital diaphragmatic hernia	OMIM:219100
Bone Marrow Failure Syndrome 5	Pure red cell aplasia, Erythroid hypoplasia, Hypogonadism, Testicular atrophy, Anemia	OMIM:618165
Lowry-Maclean Syndrome	Inguinal hernia, Congenital diaphragmatic hernia	ORPHA:2409
Familial Pseudohyperkalemia	Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume	ORPHA:90044
Good Syndrome	Abnormal leukocyte morphology, Diabetes mellitus, Mediastinal lymphadenopathy, Thymoma, Anemia, A...	ORPHA:169105
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Neutrophilia, Abnormality of the lymphatic system, Abnormal lymph node morphology, Abnormal testi...	ORPHA:54251
Fetal Alcohol Syndrome	Congenital diaphragmatic hernia	ORPHA:1915
Abcd Syndrome	Neonatal death, Polycythemia	OMIM:600501
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Stomatocytosis,...	ORPHA:288
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Lymphadenopathy, Anemia, Coombs-positive hemolytic ane...	OMIM:304790
Craniorachischisis	Omphalocele, Congenital diaphragmatic hernia	ORPHA:63260
Rh-Null, Regulator Type	Hemolytic anemia, Stomatocytosis	OMIM:268150
Vitamin B12-Unresponsive Methylmalonic Acidemia	Thrombocytopenia, Leukopenia, Macrocytic anemia, Anemia	ORPHA:27
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Hypoplasia of the thymus, Type I diabetes mellitus, Abnormal ductus ...	ORPHA:436252
Meacham Syndrome	Accessory spleen, Death in infancy, Aplasia of the right hemidiaphragm, Patent ductus arteriosus,...	OMIM:608978
Sitosterolemia 1	Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly...	OMIM:210250
Familial Benign Copper Deficiency	Anemia	ORPHA:1551
Oculocerebrocutaneous Syndrome	Congenital diaphragmatic hernia	ORPHA:1647
Orotic Aciduria	Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi...	OMIM:258900
Denys-Drash Syndrome	Posterolateral diaphragmatic hernia, Neonatal death, Congenital diaphragmatic hernia	OMIM:194080
Ataxia-Telangiectasia	Diabetes mellitus, Female hypogonadism, Acute lymphoblastic leukemia, T lymphocytopenia, Hypoplas...	OMIM:208900
Focal Dermal Hypoplasia	Omphalocele, Inguinal hernia, Abnormal dental enamel morphology, Congenital diaphragmatic hernia,...	ORPHA:2092
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volume	OMIM:185000
White-Sutton Syndrome	Patent ductus arteriosus, Facial hypotonia, Congenital diaphragmatic hernia	OMIM:616364
2Q37 Microdeletion Syndrome	Umbilical hernia, Congenital diaphragmatic hernia	ORPHA:1001
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome...	ORPHA:71275
8P23.1 Microdeletion Syndrome	Patent ductus arteriosus, Congenital diaphragmatic hernia	ORPHA:251071
Lethal Congenital Contracture Syndrome 10	Hypoplasia of the thymus	OMIM:617022
Ataxia-Telangiectasia-Like Disorder 2	Joint contracture, Congenital diaphragmatic hernia	OMIM:615919
Hereditary Spherocytosis	Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Splenomegaly, Sphero...	ORPHA:822
Chromosome 1Q41-Q42 Deletion Syndrome	Congenital diaphragmatic hernia	OMIM:612530
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Anemia, Neutropenia	OMIM:617056
Letterer-Siwe Disease	Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly	OMIM:246400
Combined Oxidative Phosphorylation Deficiency 41	Decreased circulating cortisol level, Anemia	OMIM:618838
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612926
Multiple Pterygium Syndrome, Escobar Variant	Inguinal hernia, Multiple joint contractures, Congenital diaphragmatic hernia, Weakness of facial...	OMIM:265000
Pentalogy Of Cantrell	Omphalocele, Polysplenia, Congenital diaphragmatic hernia	ORPHA:1335
Genitopalatocardiac Syndrome	Congenital diaphragmatic hernia	ORPHA:2075
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Cryptorchidism, Anemia, Type I diabetes mellitus, Lymphopenia, Thrombocytopenia	OMIM:620365
Desmoplastic Small Round Cell Tumor	Neoplasm of the pancreas, Testicular neoplasm, Mediastinal lymphadenopathy, Lymphadenopathy, Ovar...	ORPHA:83469
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia	OMIM:616959
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:266120
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Anemia	ORPHA:3405
Erythrocytosis, Familial, 2	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin, Elevated circulating e...	OMIM:263400
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Er...	OMIM:617021
Hemochromatosis, Type 5	Anemia	OMIM:615517
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Adrenal cortical sclerosis, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the...	OMIM:102700
Cutis Laxa, Autosomal Recessive, Type Ic	Posterolateral diaphragmatic hernia, Death in infancy, Inguinal hernia, Accessory spleen, Morgagn...	OMIM:613177
Syndromic Diarrhea	Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus, Thrombocytosis, Lymphopen...	ORPHA:84064
Czeizel-Losonci Syndrome	Posterolateral diaphragmatic hernia, Aplasia of the left hemidiaphragm	ORPHA:2437
Arterial Tortuosity Syndrome	Inguinal hernia, Congenital diaphragmatic hernia, Hiatus hernia, Flexion contracture, Umbilical h...	OMIM:208050
3-Methylglutaconic Aciduria, Type Viia	Anisopoikilocytosis, Anemia, Neutropenia	OMIM:619835
Pseudo-Torch Syndrome 3	Lymphadenitis, Leukocytosis, Congenital thrombocytopenia, Anemia	OMIM:618886
Proximal 16P11.2 Microdeletion Syndrome	Congenital diaphragmatic hernia	ORPHA:261197
Combined Oxidative Phosphorylation Deficiency 40	Neonatal death, Decreased circulating cortisol level, Anemia	OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42	Neonatal death, Decreased circulating cortisol level, Anemia	OMIM:618839
Osteopetrosis, Autosomal Recessive 9	Hyperparathyroidism, Anemia	OMIM:620366
Congenital Heart Defects And Skeletal Malformations Syndrome	Congenital diaphragmatic hernia, Camptodactyly	OMIM:617602
Seckel Syndrome 9	Congenital diaphragmatic hernia	OMIM:616777
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612925
Corticosteroid-Binding Globulin Deficiency	Decreased circulating cortisol level, Anemia	OMIM:611489
Mosaic Trisomy 1	Omphalocele, Elbow flexion contracture, Camptodactyly of finger, Congenital diaphragmatic hernia	ORPHA:1692
White-Sutton Syndrome	Ventral hernia, Inguinal hernia, Facial hypotonia, Congenital diaphragmatic hernia	ORPHA:468678
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Thyroiditis, Lymphadenopathy, T lym...	ORPHA:83471
Vacterl/Vater Association	Omphalocele, Congenital diaphragmatic hernia	ORPHA:887
Anemia, Congenital Dyserythropoietic, Type Iiia	Macrocytic anemia, Anemia of inadequate production, Congenital hypoplastic anemia	OMIM:105600
Developmental Delay With Or Without Dysmorphic Facies And Autism	Omphalocele, Inguinal hernia, Congenital diaphragmatic hernia, Patent ductus arteriosus, Umbilica...	OMIM:618454
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:259710
Acro-Renal-Mandibular Syndrome	Congenital diaphragmatic hernia	ORPHA:958
Gaucher Disease, Type I	Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:230800
Stormorken Syndrome	Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia	OMIM:185070
Aceruloplasminemia	Diabetes mellitus, Anemia	OMIM:604290
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Patent ductus arteriosus, Congenital diaphragmatic hernia	OMIM:614080
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Left ventricular hypertrophy, Inguinal hernia, Elbow flexion contracture, Congenital diaphragmati...	OMIM:245600
Meacham Syndrome	Abnormality of the spleen, Patent ductus arteriosus, Congenital diaphragmatic hernia	ORPHA:3097
Thakker-Donnai Syndrome	Congenital diaphragmatic hernia	ORPHA:1780
Pagod Syndrome	Omphalocele, Death in infancy, Abnormality of the spleen, Congenital diaphragmatic hernia	ORPHA:991
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Congenital diaphragmatic hernia	OMIM:611812
Fryns Syndrome	Omphalocele, Congenital diaphragmatic hernia	ORPHA:2059
Tempi Syndrome	Increased hematocrit, Polycythemia	ORPHA:284227
Cornelia De Lange Syndrome 1	Inguinal hernia, Congenital diaphragmatic hernia, Hiatus hernia, Elbow flexion contracture, Throm...	OMIM:122470
Trisomy 18	Omphalocele, Hernia, Camptodactyly of finger, Congenital diaphragmatic hernia	ORPHA:3380
Opitz Gbbb Syndrome	Omphalocele, Inguinal hernia, Congenital diaphragmatic hernia, Patent ductus arteriosus, Umbilica...	ORPHA:2745
Aymé-Gripp Syndrome	Patent ductus arteriosus, Inguinal hernia, Congenital diaphragmatic hernia, Camptodactyly	ORPHA:1272
Fraser Syndrome 2	Hypoplasia of the thymus	OMIM:617666
Simpson-Golabi-Behmel Syndrome	Omphalocele, Death in infancy, Inguinal hernia, Camptodactyly of finger, Congenital diaphragmatic...	ORPHA:373
7Q11.23 Microduplication Syndrome	Patent ductus arteriosus, Inguinal hernia, Congenital diaphragmatic hernia	ORPHA:96121
Oligomeganephronia	Congenital diaphragmatic hernia	ORPHA:2260
Digeorge Syndrome	Parathyroid agenesis, Decreased circulating parathyroid hormone level, Splenomegaly, Parathyroid ...	OMIM:188400
Glycogen Storage Disease Xii	Normocytic anemia, Splenomegaly, Normochromic anemia, Delayed puberty, Nonspherocytic hemolytic a...	OMIM:611881
Craniofrontonasal Syndrome	Umbilical hernia, Congenital diaphragmatic hernia	OMIM:304110
Nephronophthisis 4	Anemia	OMIM:606966
Hereditary Orotic Aciduria	Splenomegaly, Anemia	ORPHA:30
Treacher-Collins Syndrome	Cryptorchidism, Abnormality of the adrenal glands, Hypoplasia of the thymus, Thyroid hypoplasia	ORPHA:861
Holoprosencephaly	Omphalocele, Abnormality of the spleen, Congenital diaphragmatic hernia	ORPHA:2162
Mycophenolate Mofetil Embryopathy	Congenital diaphragmatic hernia	ORPHA:268249
Eec Syndrome	Anterior hypopituitarism, Hypoplasia of the thymus, Decreased response to growth hormone stimulat...	ORPHA:1896
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly	OMIM:259730
Developmental And Epileptic Encephalopathy 50	Schistocytosis, Anisopoikilocytosis, Anemia, Acanthocytosis	OMIM:616457
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, Microangiopa...	ORPHA:2330
Perlman Syndrome	Hypoplasia of the abdominal wall musculature, Congenital diaphragmatic hernia	OMIM:267000
22Q11.2 Deletion Syndrome	Hypoparathyroidism, Hyperthyroidism, Abnormality of the tonsils, Splenomegaly, Cryptorchidism, Hy...	ORPHA:567
Monosomy 22	Aplasia of the thymus, Hypochromic microcytic anemia, Hepatosplenomegaly	ORPHA:96123
Proteus-Like Syndrome	Splenomegaly, Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland	ORPHA:2969
Castleman Disease	Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, Lymphadenopathy...	ORPHA:160
Heart Defects, Congenital, And Other Congenital Anomalies	Inguinal hernia, Congenital diaphragmatic hernia, Patent ductus arteriosus, Aplasia of the left h...	OMIM:600001
Diets-Jongmans Syndrome	Umbilical hernia, Inguinal hernia, Congenital diaphragmatic hernia	OMIM:618846
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Congenital diaphragmatic hernia	OMIM:616546
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,...	OMIM:618223
Malt Lymphoma	Abnormality of the thyroid gland, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:52417
Beckwith-Wiedemann Syndrome	Omphalocele, Inguinal hernia, Diastasis recti, Rhabdomyosarcoma, Congenital diaphragmatic hernia,...	ORPHA:116
Acrofacial Dysostosis 1, Nager Type	Patent ductus arteriosus, Congenital diaphragmatic hernia	OMIM:154400
Carney Triad	Mediastinal lymphadenopathy, Adrenal overactivity, Lymphadenopathy, Adrenocortical adenoma, Pheoc...	ORPHA:139411
Acrorenal-Mandibular Syndrome	Elbow flexion contracture, Congenital diaphragmatic hernia	OMIM:200980
Smith-Lemli-Opitz Syndrome	Patent ductus arteriosus, Abnormal dental enamel morphology, Congenital diaphragmatic hernia	ORPHA:818
Iniencephaly	Omphalocele, Arthrogryposis multiplex congenita, Congenital diaphragmatic hernia	ORPHA:63259
Monosomy 9P	Hernia, Congenital diaphragmatic hernia	ORPHA:261112
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Anemia	ORPHA:329971
Linear Skin Defects With Multiple Congenital Anomalies 1	Congenital diaphragmatic hernia	OMIM:309801
Tetraamelia Syndrome 1	Asplenia, Congenital diaphragmatic hernia	OMIM:273395
Distal Deletion 15Q	Patent ductus arteriosus, Congenital diaphragmatic hernia	ORPHA:1596
Tangier Disease	Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Anemia, Thr...	ORPHA:31150
Poland Syndrome	Aplasia of the pectoralis major muscle, Absence of subcutaneous fat, Congenital diaphragmatic her...	ORPHA:2911
Kabuki Syndrome	Congenital diaphragmatic hernia	ORPHA:2322
Wolf-Hirschhorn Syndrome	Hernia, Congenital diaphragmatic hernia	ORPHA:280
C Syndrome	Omphalocele, Death in infancy, Aplasia/Hypoplasia of the abdominal wall musculature, Congenital d...	ORPHA:1308
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia	OMIM:619036
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Umbilical hernia, Patent ductus arteriosus, Hernia, Congenital diaphragmatic hernia	ORPHA:2255
Mullegama-Klein-Martinez Syndrome	Facial palsy, Congenital diaphragmatic hernia	OMIM:301022
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Congenital diaphragmatic hernia	OMIM:617641
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Contracture of the proximal interphalangeal joint of the 3rd finger, Congenital diaphragmatic her...	OMIM:301044
Cutis Laxa, Autosomal Recessive, Type Ib	Inguinal hernia, Congenital diaphragmatic hernia	OMIM:614437
Pseudoaminopterin Syndrome	Posterolateral diaphragmatic hernia, Inguinal hernia, Asplenia	ORPHA:221120
Cardiac-Urogenital Syndrome	Accessory spleen, Patent ductus arteriosus, Congenital diaphragmatic hernia	OMIM:618280
Focal Dermal Hypoplasia	Omphalocele, Inguinal hernia, Diastasis recti, Congenital diaphragmatic hernia, Hiatus hernia, Um...	OMIM:305600
Limb Body Wall Complex	Ventral hernia, Diastasis recti, Congenital diaphragmatic hernia	ORPHA:2369
Microphthalmia With Linear Skin Defects Syndrome	Abnormal dental enamel morphology, Congenital diaphragmatic hernia	ORPHA:2556
Senior-Loken Syndrome 1	Anemia	OMIM:266900
Simpson-Golabi-Behmel Syndrome, Type 1	Inguinal hernia, Facial hypotonia, Diastasis recti, Congenital diaphragmatic hernia, Splenomegaly...	OMIM:312870
Coffin-Siris Syndrome 1	Patent ductus arteriosus, Umbilical hernia, Inguinal hernia, Congenital diaphragmatic hernia	OMIM:135900
Fryns Syndrome	Omphalocele, Aplasia of the left hemidiaphragm, Stillbirth, Polysplenia, Camptodactyly, Joint con...	OMIM:229850
Wiedemann-Rautenstrauch Syndrome	Cryptorchidism, Hypoplasia of the thymus, Increased serum testosterone level	OMIM:264090
Truncus Arteriosus	Adrenocortical abnormality, Hypoplasia of the thymus	ORPHA:3384
Cardiospondylocarpofacial Syndrome	Congenital diaphragmatic hernia	OMIM:157800
Witteveen-Kolk Syndrome	Inguinal hernia, Congenital diaphragmatic hernia, Contracture of the distal interphalangeal joint...	OMIM:613406
Cornelia De Lange Syndrome	Congenital diaphragmatic hernia	ORPHA:199
Diaphragmatic Hernia 4, With Cardiovascular Defects	Diaphragmatic eventration, Aplasia of the left hemidiaphragm	OMIM:620025
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Absent nipple, Aplasia of the thymus, Congenital hypothyroidism, Hydrocele testis, Hypoplastic ni...	OMIM:620186
Pallister-Killian Syndrome	Omphalocele, Inguinal hernia, Congenital diaphragmatic hernia, Patent ductus arteriosus, Flexion ...	OMIM:601803
Chilton-Okur-Chung Neurodevelopmental Syndrome	Patent ductus arteriosus, Aplasia of the right hemidiaphragm, Limb hypertonia	OMIM:619841
Proteus Syndrome	Thymus hyperplasia, Testicular neoplasm, Enlarged polycystic ovaries, Splenomegaly, Neoplasm of t...	ORPHA:744
Hydrolethalus Syndrome 1	Omphalocele, Stillbirth, Agenesis of the diaphragm, Accessory spleen	OMIM:236680
Autoinflammatory-Pancytopenia Syndrome	Type I diabetes mellitus, Pancytopenia, Hemophagocytosis, Hepatosplenomegaly	OMIM:619858

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 Dnase2a

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 Dnase2a.

No publications found that use IMPC mice or data for Dnase2a.

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MGI Allele	Allele Type	Produced
Dnase2a^tm1(KOMP)Mbp	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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