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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Diamond-Blackfan Anemia 19
Anemia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618312
Diamond-Blackfan Anemia-Like
Pure red cell aplasia, Steroid-responsive anemia 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
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly ORPHA:294
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Sideroblastic anemia, Hepatosplenomegaly, Pyridoxine-responsive sideroblastic anemia, Decreased m... OMIM:206000
Reticular Dysgenesis
Hypoplasia of the thymus, Congenital agranulocytosis, Leukopenia, Lymphopenia OMIM:267500
Diamond-Blackfan Anemia 13
Normocytic anemia, Elevated red cell adenosine deaminase level OMIM:615909
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Anemia, Hypochromia OMIM:205950
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Anemia, Hypochromia OMIM:206100
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Diamond-Blackfan Anemia 18
Neutropenia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618310
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy 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
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia ORPHA:231393
Hyperlysinemia, Type I
Anemia OMIM:238700
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Heinz Body Anemias
Heinz bodies, Heinz body anemia, Nonspherocytic hemolytic anemia OMIM:140700
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Anemia, Hepatosplenomegaly OMIM:273680
Chromosome 5Q Deletion Syndrome
Anemia of inadequate production, Erythroid hypoplasia, Refractory macrocytic anemia OMIM:153550
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia, HbH hemoglobin OMIM:613978
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Anemia, Leukopenia, Thrombocytopenia OMIM:167850
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis OMIM:619398
Erythroleukemia, Familial, Susceptibility To
Leukemia, Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Thrombocytopenia OMIM:133180
Congenital Atransferrinemia
Anemia, Hypothyroidism ORPHA:1195
Nephronophthisis
Anemia ORPHA:655
Omenn Syndrome
Eosinophilia, Splenomegaly, Severe B lymphocytopenia, Anemia, B lymphocytopenia, Lymphadenopathy,... OMIM:603554
Acute Erythroid Leukemia
Pancytopenia, Leukopenia, Bone marrow hypocellularity, Anemia, Erythroid hypoplasia ORPHA:318
Spastic Paraplegia And Evans Syndrome
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia OMIM:601608
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia, Extramedullary hematopoiesis OMIM:615285
Eosinophilia, Familial
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia OMIM:131400
Neuronal Intestinal Pseudoobstruction
Patent ductus arteriosus, Congenital diaphragmatic hernia ORPHA:99811
Bone Marrow Failure Syndrome 2
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia OMIM:615715
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia OMIM:611283
8p23.1 deletion syndrome
Congenital diaphragmatic hernia DECIPHER:39
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Anemia, Sideroblastic, 5
Neutropenia, Anemia, Thrombocytopenia, Reduced hematocrit, Hypochromic microcytic anemia OMIM:619523
Glutathione Peroxidase Deficiency
Heinz bodies, Compensated hemolytic anemia OMIM:614164
Anemia, Hypochromic Microcytic, With Iron Overload 2
Poikilocytosis, Splenomegaly, Anemia, Decreased mean corpuscular volume, Hypochromia, Hypogonadism OMIM:615234
Distal 7Q11.23 Microduplication Syndrome
Patent ductus arteriosus, Congenital diaphragmatic hernia ORPHA:261102
Trimethylaminuria
Neutropenia, Anemia, Splenomegaly OMIM:602079
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Thrombocytopenia ORPHA:3319
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Splenomegaly OMIM:206400
Diamond-Blackfan Anemia 16
Anemia OMIM:617408
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Oval macrocytosis, Anisocytosis, Poikilocytosis OMIM:603529
Fanconi Anemia, Complementation Group T
Pancytopenia, Anemia, Thrombocytopenia, Bone marrow hypocellularity OMIM:616435
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Erythroid hyperplasia OMIM:237800
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis OMIM:608898
Alpha-Thalassemia
Microcytic anemia, Cholelithiasis, Splenomegaly, Anemia, Hemolytic anemia, Abnormal hemoglobin, H... ORPHA:846
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Pancytopenia, Bone marrow hypocellularity, Acute myeloid leukemia, Neutropenia, Anemia, Increased... OMIM:619041
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
Diamond-Blackfan Anemia 9
Anemia OMIM:613308
Refractory Anemia
Normocytic anemia, Bone marrow hypocellularity, Neutropenia, Macrocytic anemia, Normochromic anem... ORPHA:98826
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
Splenomegaly, Anisocytosis, Reduced red cell pyruvate kinase level, Anemia, Chronic hemolytic ane... ORPHA:766
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To
Hemolytic anemia OMIM:231900
Cyanosis, Transient Neonatal
Reticulocytosis, Anemia, Methemoglobinemia OMIM:613977
Cutis Laxa-Marfanoid Syndrome
Flexion contracture, Congenital diaphragmatic hernia ORPHA:171719
Anemia, Congenital Dyserythropoietic, Type Ib
Splenomegaly, Anisocytosis, Anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate ... OMIM:615631
Fetal Encasement Syndrome
Omphalocele, Congenital diaphragmatic hernia OMIM:613630
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Cryptorchidism, Anisocytosis, Anemia of inadequate pro... ORPHA:67044
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Congenital diaphragmatic hernia OMIM:614100
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia ORPHA:517
Immunodeficiency 69
Pancytopenia, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Splenomegaly, Anemia OMIM:618963
Isolated Anencephaly
Thymus hyperplasia, Omphalocele, Congenital diaphragmatic hernia ORPHA:563609
Glutathione Synthetase Deficiency
Hemolytic anemia ORPHA:32
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
Chromosome 15Q25 Deletion Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Macrocytic anemia OMIM:614294
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Congenital Diaphragmatic Hernia
Aplasia/Hypoplasia of the diaphragm, Congenital diaphragmatic hernia ORPHA:2140
Anemia, Sideroblastic, 1
Anemia of inadequate production, Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic ... OMIM:300751
Anemia, Congenital Dyserythropoietic, Type Ia
Poikilocytosis, Splenomegaly, Anisocytosis, Erythroid hyperplasia, Reticulocytosis, Anemia of ina... OMIM:224120
Protoporphyria, Erythropoietic, 2
Iron deficiency anemia OMIM:618015
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, T lymphocytopenia, Impaired lymphocyte transformation with phytohemaggl... OMIM:300400
Bleeding Disorder, Platelet-Type, 16
Macrothrombocytopenia, Platelet anisocytosis, Giant platelets, Anemia, Thrombocytopenia OMIM:187800
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Decreased proportion of CD4-positive helper T cells, Decreased proporti... OMIM:617241
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hemolytic anemia, Lymphad... ORPHA:444463
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Cholelithiasis OMIM:224100
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:230450
Hydrops Fetalis, Nonimmune
Anemia OMIM:236750
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Omphalocele, Congenital diaphragmatic hernia ORPHA:2141
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Congenital diaphragmatic hernia ORPHA:438134
Diamond-Blackfan Anemia 10
Patent ductus arteriosus, Steroid-responsive anemia, Congenital diaphragmatic hernia, Anemia, Mac... OMIM:613309
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Abnormality of the diaphragm, Omphalocele, Congenital diaphragmatic hernia OMIM:601163
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Neutropenia, Anemia, Acute... OMIM:202700
Diamond-Blackfan Anemia 20
Anemia, Erythroid hypoplasia OMIM:618313
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia OMIM:615524
Fanconi Anemia, Complementation Group G
Neutropenia, Anemia, Thrombocytopenia, Leukemia OMIM:614082
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Monocytosis, Cryptorchidism, Splenomegaly, Neutropenia, Anemia, Lymphopenia, Hypoplas... OMIM:612541
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia ORPHA:228312
Erythrocytosis, Familial, 4
Polycythemia, Elevated circulating erythropoietin concentration, Increased hemoglobin, Increased ... OMIM:611783
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Granulocytopenia, Congenital diaphragmatic hernia, Macrocytic anemia OMIM:606164
Erythrocytosis, Familial, 8
Cholelithiasis, Normocytic anemia, Splenomegaly, Nonspherocytic hemolytic anemia, Polycythemia, N... OMIM:222800
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Anisocytosis, Neutrope... OMIM:300835
Bone Marrow Failure Syndrome 5
Anemia, Testicular atrophy, Hypogonadism, Pure red cell aplasia OMIM:618165
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Cernunnos-Xlf Deficiency
T lymphocytopenia, Thrombocytopenia, Anemia, B lymphocytopenia, Lymphopenia ORPHA:169079
Fetal Parvovirus Syndrome
Anemia, Thrombocytopenia ORPHA:295
Diaphragmatic Hernia 2
Agenesis of the diaphragm, Congenital diaphragmatic hernia OMIM:222400
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplastic spleen, T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin... OMIM:619313
Greig Cephalopolysyndactyly Syndrome
Umbilical hernia, Congenital diaphragmatic hernia ORPHA:380
Erythrocytosis, Familial, 5
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617907
Erythrocytosis, Familial, 6
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617980
Diamond-Blackfan Anemia 12
Reticulocytopenia, Normochromic anemia, Macrocytic anemia, Elevated red cell adenosine deaminase ... OMIM:615550
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Bone marrow ... ORPHA:75564
Cryohydrocytosis
Reticulocytosis, Splenomegaly, Hemolytic anemia, Stomatocytosis OMIM:185020
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Anisocytosis, Abnormal mean co... ORPHA:3203
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Fanconi Anemia, Complementation Group V
Neutropenia, Anemia, Thrombocytopenia, Bone marrow hypocellularity OMIM:617243
Acrocallosal Syndrome
Inguinal hernia, Congenital diaphragmatic hernia ORPHA:36
Polycythemia Vera
Leukocytosis, Increased hemoglobin, Increased hematocrit, Thrombocytosis, Splenomegaly, Increased... OMIM:263300
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Lymphadenopathy, Thrombocytopenia OMIM:603552
Mu-Heavy Chain Disease
Abnormal B cell count, Anemia, Splenomegaly, Lymphadenopathy ORPHA:100024
Thrombocytopenia 5
Neutropenia, Anemia, Thrombocytopenia OMIM:616216
Osteopetrosis, Autosomal Recessive 8
Anemia, Splenomegaly, Thrombocytopenia OMIM:615085
Spherocytosis, Type 5
Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612690
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase level, Increased mean corpuscular volume, Macrocytic anemia... OMIM:610629
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Anemia of inadequate production, Hemolytic anemia, Elliptocytosis OMIM:166910
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Acanthocytosis, Hemolytic anem... OMIM:616689
Niemann-Pick Disease, Type B
Splenomegaly, Anemia, Bone-marrow foam cells, Thrombocytopenia, Sea-blue histiocytosis OMIM:607616
Formiminoglutamic Aciduria
Megaloblastic anemia, Anemia ORPHA:51208
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Anisocytosis, Splenomegaly, Anemia, Erythroid hyperplasia, Type II diabetes m... OMIM:616860
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Ataxia-Pancytopenia Syndrome
Pancytopenia, Hypoplastic anemia, Neutropenia, Anemia, Thrombocytopenia, Acute myelomonocytic leu... OMIM:159550
Malaria
Anemia, Thrombocytopenia ORPHA:673
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia ORPHA:3204
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Anemia, Lymphadenopathy, Thrombocytopenia OMIM:613101
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Bone marrow hypocellularity, Monocytosis, Acute myeloid leukemia, Refractory anemia OMIM:616871
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Hypersplenism, Thrombocytopenia, Splenomegaly OMIM:610539
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Anemia, Increased muscle glycogen content, Skeletal muscle atrophy ORPHA:371
Glutamate-Cysteine Ligase Deficiency
Reticulocytosis, Hepatosplenomegaly, Hemolytic anemia ORPHA:33574
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia ORPHA:1166
Atransferrinemia
Hypochromic anemia OMIM:209300
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Schistocytosis, Reticulocytosis, Macrocytic anemia, Increased mean corpuscular he... ORPHA:3202
Chromosome 1Q41-Q42 Deletion Syndrome
Congenital diaphragmatic hernia OMIM:612530
Pernicious Anemia
Megaloblastic anemia OMIM:170900
Multicentric Carpotarsal Osteolysis Syndrome
Congenital diaphragmatic hernia OMIM:166300
Alpha-Heavy Chain Disease
Anemia, Premature ovarian insufficiency, Splenomegaly, Lymphadenopathy ORPHA:100025
Bone Marrow Failure Syndrome 6
Hypothyroidism, Bone marrow hypocellularity, Neutropenia, Anemia, Increased mean corpuscular volu... OMIM:618849
Schisis Association
Omphalocele, Congenital diaphragmatic hernia ORPHA:63862
Diamond-Blackfan Anemia 4
Neutropenia, Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia OMIM:612527
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Senior-Loken Syndrome 1
Anemia OMIM:266900
Immunodeficiency 46
Neutropenia, Anemia, Intermittent thrombocytopenia OMIM:616740
Donnai-Barrow Syndrome
Omphalocele, Umbilical hernia, Congenital diaphragmatic hernia ORPHA:2143
Spherocytosis, Type 2
Splenomegaly, Acanthocytosis, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:616649
Spherocytosis, Type 4
Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612653
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Heinz body anemia, Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis OMIM:141700
Erythrocytosis, Familial, 1
Splenomegaly, Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:133100
Majeed Syndrome
Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Decreased mean corpuscular volume, ... OMIM:609628
Iron-Refractory Iron Deficiency Anemia
Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia OMIM:206200
Pyropoikilocytosis, Hereditary
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis OMIM:266140
Bone Marrow Failure Syndrome 4
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia OMIM:618116
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Anemia, Hyperparathyroidism ORPHA:2668
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Normocytic anemia, Splenomegaly, Nonspherocytic hemolytic anemia, Reticulocytosis... OMIM:235700
Cebalid Syndrome
Congenital diaphragmatic hernia OMIM:618774
Osteopetrosis, Autosomal Recessive 4
Hepatosplenomegaly, Splenomegaly, Anemia, Reticulocytosis, Thrombocytopenia OMIM:611490
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Leukocytosis, Thrombocytosis, Autoimmune hemolytic anemia, Impaired lymphocyte transformation wit... OMIM:243150
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Neutropenia, Anemia, Hydrocele testis, Congenital thrombocytopenia OMIM:616738
Idiopathic Aplastic Anemia
Pancytopenia, Bone marrow hypocellularity, Neutropenia, Anemia, Reticulocytopenia, Thrombocytopenia ORPHA:88
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Patent ductus arteriosus, Congenital diaphragmatic hernia ORPHA:1120
Osteopetrosis, Autosomal Dominant 3
Anemia, Hyperparathyroidism, Splenomegaly OMIM:618107
Dohle Bodies And Leukemia
Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies OMIM:223350
Reticular Dysgenesis
Abnormality of neutrophils, Anemia, Leukopenia, Aplasia/Hypoplasia of the thymus ORPHA:33355
Solute carrier family 4 (anion exchanger), member 1
Splenomegaly, Acanthocytosis, Spherocytosis, Hemolytic anemia, Elliptocytosis, Stomatocytosis, Re... OMIM:109270
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Anemia of inadequate production, Congenital thrombocytopenia, Poikilocytosis, Acanthocytosis OMIM:300367
Focal Segmental Glomerulosclerosis 1
Anemia OMIM:603278
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia OMIM:314050
Beta-Thalassemia
Microcytic anemia, Cholelithiasis, Hypogonadotropic hypogonadism, Splenomegaly, Anemia, Abnormal ... ORPHA:848
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:182900
Spherocytosis, Type 3
Spherocytosis, Hemolytic anemia OMIM:270970
Tonne-Kalscheuer Syndrome
Congenital diaphragmatic hernia OMIM:300978
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Thrombocytosis, Iron defici... ORPHA:232
Hemochromatosis, Type 2B
Anemia, Splenomegaly, Hypogonadism OMIM:613313
Xp22.13P22.2 Duplication Syndrome
Umbilical hernia, Congenital diaphragmatic hernia ORPHA:284180
Pericardial And Diaphragmatic Defect
Aplasia of the left hemidiaphragm, Patent ductus arteriosus, Congenital diaphragmatic hernia ORPHA:2847
Adenosine deaminase, elevated, hemolytic anemia due to
Stomatocytosis, Hemolytic anemia, Anisopoikilocytosis, Elevated red cell adenosine deaminase level OMIM:102730
1Q41Q42 Microdeletion Syndrome
Hyposegmentation of neutrophil nuclei, Congenital diaphragmatic hernia ORPHA:250999
Mullegama-Klein-Martinez Syndrome
Congenital diaphragmatic hernia OMIM:301022
Elliptocytosis 1
Elliptocytosis, Splenomegaly, Hemolytic anemia OMIM:611804
Craniofrontonasal Dysplasia
Camptodactyly of finger, Congenital diaphragmatic hernia ORPHA:1520
Ghosal Hematodiaphyseal Dysplasia
Bone marrow hypocellularity, Leukopenia, Thrombocytopenia, Refractory anemia OMIM:231095
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Thrombocytosis, Splenomegaly, Enlarged mesenteri... OMIM:209950
Amed Syndrome, Digenic
Leukopenia, Bone marrow hypocellularity, Acute myeloid leukemia, Adrenal hypoplasia, Anemia, Thro... OMIM:619151
Cooper-Jabs Syndrome
Camptodactyly of finger, Umbilical hernia, Congenital diaphragmatic hernia ORPHA:1488
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Lymph node hypoplasia, Aplasia of the thymus OMIM:602450
Lesch-Nyhan Syndrome
Anemia ORPHA:510
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatosplenomegaly, Splenomegaly, Anemia, Abnormality of the lymph nodes, Extramedu... OMIM:612840
Diamond-Blackfan Anemia 5
Reticulocytopenia, Leukopenia, Erythroid hypoplasia, Macrocytic anemia OMIM:612528
Gillessen-Kaesbach-Nishimura Syndrome
Omphalocele, Flexion contracture, Congenital diaphragmatic hernia OMIM:263210
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Chronic hemolytic anemia, Elliptocytosis OMIM:617948
Oslam Syndrome
Anemia OMIM:165660
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Pancytopenia, Thrombocytosis, Megaloblastic anemia, Macrocytic anemia, Anemia of inadequate produ... OMIM:617780
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Mitochondrial Complex I Deficiency, Nuclear Type 16
Aplasia of the left hemidiaphragm OMIM:618238
Proximal 16P11.2 Microduplication Syndrome
Congenital diaphragmatic hernia ORPHA:370079
Overhydrated Hereditary Stomatocytosis
Reticulocytosis, Splenomegaly, Hemolytic anemia, Stomatocytosis OMIM:185000
Elliptocytosis 2
Reticulocytosis, Hemolytic anemia, Elliptocytosis OMIM:130600
Emanuel Syndrome
Inguinal hernia, Patent ductus arteriosus, Congenital diaphragmatic hernia OMIM:609029
Senior-Loken Syndrome 4
Anemia OMIM:606996
Hemolytic Anemia, Congenital, X-Linked
Hemolytic anemia OMIM:301015
Intermediate Generalized Junctional Epidermolysis Bullosa
Anemia ORPHA:79402
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:163596
Serkal Syndrome
Congenital diaphragmatic hernia ORPHA:139466
Schnitzler Syndrome
Anemia, Splenomegaly, Leukocytosis, Lymphadenopathy ORPHA:37748
13Q12.3 Microdeletion Syndrome
Camptodactyly, Congenital diaphragmatic hernia ORPHA:412035
Non-Syndromic Posterior Hypospadias
Omphalocele, Congenital diaphragmatic hernia ORPHA:95706
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Adrenal insufficiency, Hypothyroidism, Hepatosplenomegaly, Abnormality of the hypothalamus-pituit... ORPHA:300298
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Anemia, Splenomegaly, Hemophagocytosis OMIM:618398
Trisomy 1Q
Omphalocele, Camptodactyly of finger, Patent ductus arteriosus, Congenital diaphragmatic hernia ORPHA:261344
T-Cell Immunodeficiency With Thymic Aplasia
Abnormal T cell morphology, Hepatosplenomegaly, Lymphopenia, Aplasia of the thymus OMIM:242700
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Inguinal hernia, Congenital diaphragmatic hernia ORPHA:2063
Transaldolase Deficiency
Anemia, Hepatosplenomegaly, Thrombocytopenia ORPHA:101028
Lymphoproliferative Syndrome 1
Pancytopenia, Leukopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Decreased pro... OMIM:613011
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus ORPHA:40366
Ferguson-Bonni Neurodevelopmental Syndrome
Congenital diaphragmatic hernia OMIM:619699
Pericardial Effusion, Chronic
Polycythemia OMIM:260900
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Anemia, Lymphadenopathy, ... ORPHA:507
Vitamin B12-Responsive Methylmalonic Acidemia
Anemia ORPHA:28
Zaki Syndrome
Patent ductus arteriosus, Congenital diaphragmatic hernia OMIM:619648
15Q24 Microdeletion Syndrome
Congenital diaphragmatic hernia, Hernia ORPHA:94065
Primary Myelofibrosis
Pancytopenia, Hepatosplenomegaly, Leukocytosis, Thrombocytosis, Splenomegaly, Anemia, Lymphadenop... ORPHA:824
Thoracoabdominal Syndrome
Omphalocele, Patent ductus arteriosus, Ventral hernia, Congenital diaphragmatic hernia OMIM:313850
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus ORPHA:3004
Axial Mesodermal Dysplasia Spectrum
Omphalocele, Abnormality of the spleen, Congenital diaphragmatic hernia ORPHA:1834
Gaucher Disease, Type Ii
Anemia, Thrombocytopenia, Splenomegaly OMIM:230900
Hemochromatosis, Type 3
Neutropenia, Anemia, Hypogonadotropic hypogonadism, Lymphopenia OMIM:604250
Intellectual Disability-Strabismus Syndrome
Achilles tendon contracture, Patent ductus arteriosus, Congenital diaphragmatic hernia, Congenita... ORPHA:363528
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Pancytopenia, Bone marrow hypocellularity, Anemia, Myeloid leukemia, Aplastic anemia, Mediastinal... OMIM:614742
Emanuel Syndrome
Inguinal hernia, Patent ductus arteriosus, Multiple joint contractures, Congenital diaphragmatic ... ORPHA:96170
Cutis Laxa, Autosomal Recessive, Type Ia
Inguinal hernia, Umbilical hernia, Congenital diaphragmatic hernia OMIM:219100
Donnai-Barrow Syndrome
Omphalocele, Diaphragmatic eventration, Umbilical hernia, Congenital diaphragmatic hernia OMIM:222448
Halperin-Birk Syndrome
Flexion contracture, Congenital diaphragmatic hernia, Death in childhood, Inguinal hernia, Umbili... OMIM:618651
Primary Familial Polycythemia
Abnormal hemoglobin, Polycythemia ORPHA:90042
Lethal Congenital Contracture Syndrome 10
Hypoplasia of the thymus OMIM:617022
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenom... ORPHA:100026
Diffuse Neonatal Hemangiomatosis
Anemia, Thrombocytopenia ORPHA:2123
Ataxia-Telangiectasia
T lymphocytopenia, Female hypogonadism, Leukemia, Decreased proportion of CD4-positive helper T c... OMIM:208900
Autosomal Recessive Spondylocostal Dysostosis
Inguinal hernia, Camptodactyly of finger, Umbilical hernia, Congenital diaphragmatic hernia ORPHA:2311
Cinca Syndrome
Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia, Lymphadenopathy OMIM:607115
46,Xx Sex Reversal 5
Aplasia of the left hemidiaphragm OMIM:618901
Diamond-Blackfan Anemia 11
Neutropenia, Anemia, Anemia of inadequate production, Bone marrow hypocellularity OMIM:614900
Wiskott-Aldrich Syndrome
Microcytic anemia, Chronic leukemia, Abnormal eosinophil morphology, Neutropenia, Anemia, Hemolyt... ORPHA:906
Matthew-Wood Syndrome
Congenital diaphragmatic hernia, Abnormal spleen morphology ORPHA:2470
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hypoplasia of the thymus, Cryptorchidism OMIM:214110
Hydatidiform Mole
Anemia, Hyperthyroidism ORPHA:99927
Arterial Tortuosity Syndrome
Hiatus hernia, Flexion contracture, Congenital diaphragmatic hernia, Inguinal hernia, Umbilical h... OMIM:208050
Wolman Disease
Adrenal insufficiency, Splenomegaly, Anemia, Bone-marrow foam cells, Adrenal calcification ORPHA:75233
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal testis morphology, Neutrophilia, Anemia, Abnormality of the lymph nodes, Abnormality of ... ORPHA:54251
Microphthalmia, Syndromic 9
Hypoplastic spleen, Patent ductus arteriosus, Congenital diaphragmatic hernia, Inguinal hernia, D... OMIM:601186
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Anemia, Increased mean corpuscular volume, Abnormal erythrocyte morphology, Poikilo... ORPHA:98870
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Leukocytosis, Central hypothyroidism, Cervical lymphadenopathy, Anemia, Acute... ORPHA:514
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Congenital diaphragmatic hernia OMIM:618022
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Anemia, Anemia of inadequate production, Splenomegaly OMIM:612714
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Anemia OMIM:613092
Lowry-Maclean Syndrome
Inguinal hernia, Congenital diaphragmatic hernia ORPHA:2409
Hereditary Elliptocytosis
Cholelithiasis, Stomatocytosis, Splenomegaly, Hemolytic anemia, Congenital hemolytic anemia, Abno... ORPHA:288
Craniorachischisis
Omphalocele, Congenital diaphragmatic hernia ORPHA:63260
Familial Pseudohyperkalemia
Reticulocytosis, Episodic hemolytic anemia, Increased mean corpuscular volume, Stomatocytosis ORPHA:90044
Good Syndrome
Abnormal leukocyte morphology, Anemia, Diabetes mellitus, Aplasia/Hypoplasia of the thymus, Thymo... ORPHA:169105
Fetal Alcohol Syndrome
Congenital diaphragmatic hernia ORPHA:1915
Developmental Delay With Or Without Dysmorphic Facies And Autism
Inguinal hernia, Umbilical hernia, Patent ductus arteriosus, Congenital diaphragmatic hernia OMIM:618454
Rh-Null, Regulator Type
Hemolytic anemia, Stomatocytosis OMIM:268150
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Eosinophilia, Reduced red cell adenosine deaminase level, Autoimmune thrombocytopenia, Autoimmune... OMIM:102700
Stormorken Syndrome
Anemia, Thrombocytopenia, Asplenia, Howell-Jolly bodies OMIM:185070
Vitamin B12-Unresponsive Methylmalonic Acidemia
Anemia, Leukopenia, Thrombocytopenia, Macrocytic anemia ORPHA:27
Tufted Angioma
Anemia, Thrombocytopenia ORPHA:1063
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Hypothyroidism, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Neut... OMIM:304790
Combined Immunodeficiency-Enteropathy Spectrum
Hashimoto thyroiditis, Autoimmune hemolytic anemia, Abnormality of the ductus choledochus, Hypopl... ORPHA:436252
Meacham Syndrome
Accessory spleen, Patent ductus arteriosus, Aplasia of the right hemidiaphragm, Death in childhoo... OMIM:608978
Oculocerebrocutaneous Syndrome
Congenital diaphragmatic hernia ORPHA:1647
Focal Dermal Hypoplasia
Diastasis recti, Hernia, Patent ductus arteriosus, Congenital diaphragmatic hernia, Inguinal hern... ORPHA:2092
White-Sutton Syndrome
Patent ductus arteriosus, Facial hypotonia, Congenital diaphragmatic hernia OMIM:616364
8P23.1 Microdeletion Syndrome
Patent ductus arteriosus, Congenital diaphragmatic hernia ORPHA:251071
Hereditary Spherocytosis
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, Spherocytosis,... ORPHA:822
Congenital Heart Defects And Skeletal Malformations Syndrome
Camptodactyly, Congenital diaphragmatic hernia OMIM:617602
Genitopalatocardiac Syndrome
Congenital diaphragmatic hernia ORPHA:2075
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Neutropenia, Anemia OMIM:617056
Pentalogy Of Cantrell
Omphalocele, Polysplenia, Congenital diaphragmatic hernia ORPHA:1335
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Anemia, Elliptocytosis, Decreased mean corpuscular volume, Poikilocytosis OMIM:616959
2Q37 Microdeletion Syndrome
Umbilical hernia, Congenital diaphragmatic hernia ORPHA:1001
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Hepatosplenomegaly, Anemia, Thrombocytopenia, Extramedullary hematopoiesis OMIM:259710
Familial Benign Copper Deficiency
Anemia ORPHA:1551
Orotic Aciduria
Folate-unresponsive megaloblastic anemia, Hypochromia, Anisocytosis, Pyrimidine-responsive megalo... OMIM:258900
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612926
Letterer-Siwe Disease
Neutropenia, Anemia, Hepatosplenomegaly, Thrombocytopenia OMIM:246400
Desmoplastic Small Round Cell Tumor
Testicular neoplasm, Ovarian neoplasm, Anemia, Lymphadenopathy, Mediastinal lymphadenopathy, Neop... ORPHA:83469
Multiple Pterygium Syndrome, Escobar Variant
Bilateral camptodactyly, Congenital diaphragmatic hernia, Inguinal hernia, Diaphragmatic eventrat... OMIM:265000
Erythrocytosis, Familial, 2
Increased red blood cell mass, Elevated circulating erythropoietin concentration, Increased hemog... OMIM:263400
Rh Deficiency Syndrome
Macrocytic anemia, Hepatosplenomegaly, Anisocytosis, Spherocytosis, Hemolytic anemia, Stomatocyto... ORPHA:71275
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Decreased circulating cortisol level OMIM:618838
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:266120
Developmental And Epileptic Encephalopathy 50
Anemia, Schistocytosis, Acanthocytosis, Anisopoikilocytosis OMIM:616457
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Anemia ORPHA:3405
Syndromic Diarrhea
Hypothyroidism, Thrombocytosis, Splenomegaly, Hypoplasia of the thymus, Lymphopenia, Increased me... ORPHA:84064
Copper Deficiency, Familial Benign
Anemia OMIM:121270
Aggressive Systemic Mastocytosis
Pancytopenia, Abnormal mast cell morphology, Hepatosplenomegaly, Leukemia, Leukocytosis, Increase... ORPHA:98850
Anemia, Congenital Dyserythropoietic, Type Iiia
Anemia of inadequate production, Congenital hypoplastic anemia, Macrocytic anemia OMIM:105600
Czeizel-Losonci Syndrome
Posterolateral diaphragmatic hernia, Aplasia of the left hemidiaphragm ORPHA:2437
Mosaic Trisomy 1
Omphalocele, Camptodactyly of finger, Elbow flexion contracture, Congenital diaphragmatic hernia ORPHA:1692
Pseudo-Torch Syndrome 3
Congenital thrombocytopenia, Anemia, Lymphadenitis, Leukocytosis OMIM:618886
Vacterl/Vater Association
Omphalocele, Congenital diaphragmatic hernia ORPHA:887
Seckel Syndrome 9
Congenital diaphragmatic hernia OMIM:616777
Omenn Syndrome
Abnormal lymphocyte morphology, Eosinophilia, Hypothyroidism, Leukocytosis, Splenomegaly, Anemia,... ORPHA:39041
Proximal 16P11.2 Microdeletion Syndrome
Congenital diaphragmatic hernia ORPHA:261197
Neonatal Lupus Erythematosus
Pancytopenia, Splenomegaly, Neutropenia, Anemia, Hemolytic anemia, Aplastic anemia, Thrombocytopenia ORPHA:398124
Combined Oxidative Phosphorylation Deficiency 40
Neonatal death, Anemia, Decreased circulating cortisol level OMIM:618835
White-Sutton Syndrome
Inguinal hernia, Ventral hernia, Facial hypotonia, Congenital diaphragmatic hernia ORPHA:468678
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Anemia, Decreased circulating cortisol level OMIM:618839
Thymic Aplasia
T lymphocytopenia, Hypothyroidism, Coombs-positive hemolytic anemia, Decreased proportion of naiv... ORPHA:83471
Aceruloplasminemia
Anemia, Diabetes mellitus OMIM:604290
Thakker-Donnai Syndrome
Congenital diaphragmatic hernia ORPHA:1780
Gaucher Disease, Type I
Pancytopenia, Splenomegaly, Anemia, Hypersplenism, Thrombocytopenia OMIM:230800
Acro-Renal-Mandibular Syndrome
Congenital diaphragmatic hernia ORPHA:958
Macrophage Activation Syndrome
Hemophagocytosis, Splenomegaly, Abnormal natural killer cell count, Neutropenia, Anemia, Lymphade... ORPHA:158061
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Patent ductus arteriosus, Congenital diaphragmatic hernia OMIM:614080
Meacham Syndrome
Patent ductus arteriosus, Abnormality of the spleen, Congenital diaphragmatic hernia ORPHA:3097
Pagod Syndrome
Omphalocele, Death in infancy, Abnormality of the spleen, Congenital diaphragmatic hernia ORPHA:991
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Neutropenia, Anemia, Thrombocytopenia, Bone marrow hypocellularity OMIM:614520
Denys-Drash Syndrome
Congenital diaphragmatic hernia OMIM:194080
Fryns Syndrome
Omphalocele, Congenital diaphragmatic hernia ORPHA:2059
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Congenital diaphragmatic hernia OMIM:611812
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Inguinal hernia, Elbow flexion contracture, Left ventricular hypertrophy, Congenital diaphragmati... OMIM:245600
Tempi Syndrome
Increased hematocrit, Polycythemia ORPHA:284227
7Q11.23 Microduplication Syndrome
Inguinal hernia, Patent ductus arteriosus, Congenital diaphragmatic hernia ORPHA:96121
Trisomy 18
Omphalocele, Camptodactyly of finger, Congenital diaphragmatic hernia, Hernia ORPHA:3380
Cornelia De Lange Syndrome 1
Hiatus hernia, Congenital diaphragmatic hernia, Inguinal hernia, Elbow flexion contracture, Throm... OMIM:122470
Aymé-Gripp Syndrome
Inguinal hernia, Camptodactyly, Patent ductus arteriosus, Congenital diaphragmatic hernia ORPHA:1272
Simpson-Golabi-Behmel Syndrome
Splenomegaly, Congenital diaphragmatic hernia, Macroglossia, Inguinal hernia, Omphalocele, Death ... ORPHA:373
Craniofrontonasal Syndrome
Umbilical hernia, Congenital diaphragmatic hernia OMIM:304110
Oligomeganephronia
Congenital diaphragmatic hernia ORPHA:2260
Opitz Gbbb Syndrome
Patent ductus arteriosus, Congenital diaphragmatic hernia, Inguinal hernia, Omphalocele, Umbilica... ORPHA:2745
Digeorge Syndrome
Cholelithiasis, Hypothyroidism, Parathyroid agenesis, Abnormality of the thymus, Splenomegaly, Ov... OMIM:188400
Lymphatic Malformation 7
Anemia OMIM:617300
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Congenital diaphragmatic hernia OMIM:616546
Nephronophthisis 4
Anemia OMIM:606966
Perlman Syndrome
Hypoplasia of the abdominal wall musculature, Congenital diaphragmatic hernia OMIM:267000
Osteopetrosis, Autosomal Recessive 3
Anemia, Hepatosplenomegaly, Extramedullary hematopoiesis OMIM:259730
Holoprosencephaly
Omphalocele, Abnormality of the spleen, Congenital diaphragmatic hernia ORPHA:2162
Eec Syndrome
Hypoplasia of the thymus, Decreased response to growth hormone stimulation test, Anterior hypopit... ORPHA:1896
Treacher-Collins Syndrome
Hypoplasia of the thymus, Abnormality of the adrenal glands, Thyroid hypoplasia, Cryptorchidism ORPHA:861
Neutrophilic Dermatosis, Acute Febrile
Anemia OMIM:608068
Diets-Jongmans Syndrome
Inguinal hernia, Umbilical hernia, Congenital diaphragmatic hernia OMIM:618846
Proteasome-Associated Autoinflammatory Syndrome 3
Splenomegaly, Thrombocytopenia, Anemia, Lymphadenopathy, Lymphopenia OMIM:617591
Mycophenolate Mofetil Embryopathy
Congenital diaphragmatic hernia ORPHA:268249
Hereditary Orotic Aciduria
Anemia, Splenomegaly ORPHA:30
22Q11.2 Deletion Syndrome
Cholelithiasis, Hypothyroidism, Cryptorchidism, Hyperthyroidism, Splenomegaly, Abnormality of the... ORPHA:567
Proteus-Like Syndrome
Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gland, Polycystic ovaries ORPHA:2969
Castleman Disease
Generalized lymphadenopathy, Anemia, Follicular hyperplasia, Lymphadenopathy, Decreased mean corp... ORPHA:160
Monosomy 22
Hypochromic microcytic anemia, Hepatosplenomegaly, Aplasia of the thymus ORPHA:96123
Heart Defects, Congenital, And Other Congenital Anomalies
Patent ductus arteriosus, Congenital diaphragmatic hernia, Inguinal hernia, Aplasia of the left h... OMIM:600001
Beckwith-Wiedemann Syndrome
Diastasis recti, Rhabdomyosarcoma, Splenomegaly, Leiomyosarcoma, Congenital diaphragmatic hernia,... ORPHA:116
Kasabach-Merritt Syndrome
Leukopenia, Abnormal lymphatic vessel morphology, Neutropenia, Anemia, Reticulocytosis, Microangi... ORPHA:2330
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Hemophagocytosis, Splenomegaly, Abnormal natural killer cell count, Neutropenia, An... ORPHA:158048
Iniencephaly
Omphalocele, Congenital diaphragmatic hernia, Arthrogryposis multiplex congenita ORPHA:63259
Acrorenal-Mandibular Syndrome
Elbow flexion contracture, Congenital diaphragmatic hernia OMIM:200980
Carney Triad
Paraganglioma, Adrenal overactivity, Anemia, Pheochromocytoma, Lymphadenopathy, Adrenocortical ad... ORPHA:139411
Dyskeratosis Congenita, Autosomal Dominant 1
Bone marrow hypocellularity, Thrombocytopenia, Anemia, Aplastic anemia, Lymphopenia OMIM:127550
Linear Skin Defects With Multiple Congenital Anomalies 1
Congenital diaphragmatic hernia OMIM:309801
Malt Lymphoma
Anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormality of the thyroid gland ORPHA:52417
Smith-Lemli-Opitz Syndrome
Abnormal dental enamel morphology, Patent ductus arteriosus, Congenital diaphragmatic hernia ORPHA:818
Sandifer Syndrome
Anemia ORPHA:71272
Nephronophthisis 1
Anemia OMIM:256100
Tetraamelia Syndrome 1
Asplenia, Congenital diaphragmatic hernia OMIM:273395
Poland Syndrome
Congenital diaphragmatic hernia, Absence of subcutaneous fat, Aplasia of the pectoralis major mus... ORPHA:2911
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemia ORPHA:329971
Wolf-Hirschhorn Syndrome
Congenital diaphragmatic hernia, Hernia ORPHA:280
Monosomy 9P
Congenital diaphragmatic hernia, Hernia ORPHA:261112
Arteriosclerosis, Severe Juvenile
Anemia, Delayed puberty OMIM:208060
C Syndrome
Omphalocele, Death in infancy, Aplasia/Hypoplasia of the abdominal wall musculature, Congenital d... ORPHA:1308
Cutis Laxa, Autosomal Recessive, Type Ib
Inguinal hernia, Congenital diaphragmatic hernia OMIM:614437
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Congenital diaphragmatic hernia OMIM:617641
Kabuki Syndrome
Congenital diaphragmatic hernia ORPHA:2322
Tangier Disease
Hepatosplenomegaly, Orange discolored tonsils, Anemia, Chronic noninfectious lymphadenopathy, Thr... ORPHA:31150
Pearson Marrow-Pancreas Syndrome
Pancytopenia, Refractory sideroblastic anemia, Sideroblastic anemia, Hypoplastic anemia, Neutrope... OMIM:557000
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Umbilical hernia, Patent ductus arteriosus, Congenital diaphragmatic hernia, Hernia ORPHA:2255
Focal Dermal Hypoplasia
Hiatus hernia, Diastasis recti, Enamel hypoplasia, Congenital diaphragmatic hernia, Inguinal hern... OMIM:305600
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Camptodactyly, Contracture of the proximal interphalangeal joint of the 3rd finger, Congenital di... OMIM:301044
Distal Monosomy 15Q
Patent ductus arteriosus, Congenital diaphragmatic hernia ORPHA:1596
Witteveen-Kolk Syndrome
Inguinal hernia, Congenital diaphragmatic hernia OMIM:613406
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Pseudoaminopterin Syndrome
Inguinal hernia, Posterolateral diaphragmatic hernia, Asplenia ORPHA:221120
Microphthalmia With Linear Skin Defects Syndrome
Abnormal dental enamel morphology, Congenital diaphragmatic hernia ORPHA:2556
Simpson-Golabi-Behmel Syndrome, Type 1
Facial hypotonia, Diastasis recti, Patent ductus arteriosus, Splenomegaly, Congenital diaphragmat... OMIM:312870
Coffin-Siris Syndrome 1
Inguinal hernia, Umbilical hernia, Patent ductus arteriosus, Congenital diaphragmatic hernia OMIM:135900
Limb Body Wall Complex
Congenital diaphragmatic hernia, Ventral hernia, Diastasis recti ORPHA:2369
Truncus Arteriosus
Hypoplasia of the thymus, Adrenocortical abnormality ORPHA:3384
Fryns Syndrome
Omphalocele, Aplasia of the left hemidiaphragm, Camptodactyly, Polysplenia, Stillbirth, Joint con... OMIM:229850
Cornelia De Lange Syndrome
Congenital diaphragmatic hernia ORPHA:199
Pallister-Killian Syndrome
Flexion contracture, Patent ductus arteriosus, Enamel hypoplasia, Congenital diaphragmatic hernia... OMIM:601803
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies
Agenesis of the diaphragm OMIM:601027
Hydrolethalus Syndrome 1
Agenesis of the diaphragm, Omphalocele, Stillbirth, Accessory spleen OMIM:236680
Proteus Syndrome
Diabetes insipidus, Lymphangioma, Testicular neoplasm, Splenomegaly, Ovarian neoplasm, Thymus hyp... ORPHA:744

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
Dnase2atm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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