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Gene: Blm MGI:1328362

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

Bloom syndrome, RecQ like helicase

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 Blm 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 Blm (2 diseases)
Human diseases predicted to be associated with Blm (680 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Bloom Syndrome		Acute myeloid leukemia, Malignant genitourinary tract tumor, Myelodysplasia, Esophageal neoplasm,...	ORPHA:125
Bloom Syndrome		Chromosome breakage, Abnormality of chromosome stability, Lymphoma, Squamous cell carcinoma, Leuk...	OMIM:210900

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

Disease	Matching phenotypes	Source
Fraxf Syndrome	Folate-dependent fragile site at Xq28	ORPHA:100974
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Leukemia, Lymphoma, Polyclonal elevation of IgM, Monoclonal immunoglobulin M proteinemia	OMIM:153600
Diamond-Blackfan Anemia 19	Erythroid hypoplasia, Steroid-responsive anemia, Anemia	OMIM:618312
Immunoerythromyeloid Hypoplasia	Decreased circulating IgG level, Lymphoproliferative disorder	OMIM:242880
Diamond-Blackfan Anemia-Like	Steroid-responsive anemia, Pure red cell aplasia	OMIM:617911
Lymphoma, Hodgkin, Classic	Hodgkin lymphoma, Polyclonal elevation of IgM	OMIM:236000
Transient Erythroblastopenia Of Childhood	Transient erythroblastopenia, Anemia	OMIM:227050
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Pallor, Anemia	ORPHA:46532
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Short stature, Anisocytosis, Anemia of inadequate production, Splenomegaly, Grow...	OMIM:615631
Immunodeficiency, Common Variable, 4	Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ...	OMIM:613494
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog...	OMIM:616689
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia	Intrauterine growth retardation, Anemia	ORPHA:2802
Mosaic Variegated Aneuploidy Syndrome 4	Abnormality of chromosome stability	OMIM:620153
Immunodeficiency 24	Decreased circulating IgG level, Lymphoproliferative disorder, Defective T cell proliferation, Re...	OMIM:615897
Diamond-Blackfan Anemia 17	Anemia	OMIM:617409
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ...	OMIM:616452
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Growth delay, Decreased mean corpuscu...	ORPHA:300298
Immunodeficiency, Common Variable, 3	Decreased circulating total IgM, Reduced isohemagglutinin level, Chronic decreased circulating to...	OMIM:613493
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
Fetal Cytomegalovirus Syndrome	Splenomegaly, Anemia	ORPHA:294
Anemia, Sideroblastic, 4	Abnormal erythrocyte morphology, Sideroblastic anemia	OMIM:182170
Agammaglobulinemia 10, Autosomal Dominant	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c...	OMIM:619707
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Decreased circulating antibody level	OMIM:616911
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ...	OMIM:606843
Immunodeficiency, Common Variable, 14	Decreased circulating total IgM, Decreased specific antibody response to vaccination, Decreased c...	OMIM:617765
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level	OMIM:619549
Agammaglobulinemia 4, Autosomal Recessive	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c...	OMIM:613502
Anemia, Hypochromic Microcytic, With Iron Overload 2	Splenomegaly, Growth delay, Decreased mean corpuscular volume, Pallor, Poikilocytosis, Hypochromi...	OMIM:615234
Woronets Trait	Red blood cell keratocytosis	OMIM:194320
Breath-Holding Spells	Iron deficiency anemia, Pallor	OMIM:607578
Caspase 8 Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:607271
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Acute Myelomonocytic Leukemia	Eosinophilia, Leukocytosis, Anemia, Pallor, Thrombocytopenia	ORPHA:517
Anemia, Sideroblastic, 1	Sideroblastic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production, Hypochro...	OMIM:300751
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
N Syndrome	Abnormality of chromosome stability, Neoplasm, Leukemia	OMIM:310465
Immunodeficiency 44	Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level	OMIM:616636
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Immunodeficiency 70	Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota...	OMIM:618969
Hemoglobin E-Beta-Thalassemia Syndrome	Abnormal hemoglobin, Anemia	ORPHA:231249
Tn Polyagglutination Syndrome	Abnormal erythrocyte morphology	OMIM:300622
Agammaglobulinemia 8B, Autosomal Recessive	B Acute Lymphoblastic Leukemia, Agammaglobulinemia, Decreased circulating total IgM, Decreased ci...	OMIM:619824
Immunodeficiency 61	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased ...	OMIM:300310
Transcobalamin Deficiency	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	ORPHA:859
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia	OMIM:618310
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Immunodeficiency With Hyper-Igm, Type 2	Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig...	OMIM:605258
Agammaglobulinemia 2, Autosomal Recessive	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgA level	OMIM:613500
Severe Combined Immunodeficiency, X-Linked	Reduced natural killer cell activity, Agammaglobulinemia, Decreased circulating total IgM, Decrea...	OMIM:300400
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia	OMIM:205950
Persistent Polyclonal B-Cell Lymphocytosis	Decreased circulating total IgM	OMIM:606445
Immunodeficiency 62	Decreased circulating IgG level, Decreased circulating total IgM, Reduced isohemagglutinin level,...	OMIM:618459
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Decreased circulating IgG level, Decreased circulating total IgM, Increased circulating interleuk...	OMIM:618944
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Mild postnatal growth retardation, Anisocytosis, Anemia of ina...	OMIM:224120
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Congenital thrombocytopenia, Pet...	OMIM:300367
Immunodeficiency 105	B-cell lymphoma, Decreased circulating antibody level, Decreased circulating total IgM, Decreased...	OMIM:619924
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis	OMIM:206200
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Elliptocytosis, Pallor	OMIM:611804
Scleroderma, Familial Progressive	Chromosome breakage, Abnormality of chromosome stability	OMIM:181750
Congenital Dyserythropoietic Anemia Type Iii	Short stature, Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, ...	ORPHA:98870
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM	OMIM:610798
Nijmegen Breakage Syndrome-Like Disorder	Chromosomal breakage induced by ionizing radiation	OMIM:613078
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Anemia	OMIM:611283
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Agammaglobulinemia 6, Autosomal Recessive	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c...	OMIM:612692
Beta-Thalassemia Major	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad...	ORPHA:231214
Immunodeficiency With Hyper-Igm, Type 5	Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb...	OMIM:608106
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:618987
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level	OMIM:235550
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Agammaglobulinemia 5, Autosomal Dominant	Agammaglobulinemia	OMIM:613506
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom...	ORPHA:75564
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy	Cryoglobulinemia, Lymphoma, Multiple myeloma, Monoclonal immunoglobulin M proteinemia	ORPHA:209004
Pyropoikilocytosis, Hereditary	Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis	OMIM:266140
Lymphoproliferative Syndrome 3	Partial absence of specific antibody response to tetanus vaccine, Lymphoproliferative disorder, H...	OMIM:618261
Fanconi Anemia, Complementation Group D1	Acute myeloid leukemia, T-cell acute lymphoblastic leukemias, Chromosomal breakage induced by cro...	OMIM:605724
Fetal Parvovirus Syndrome	Hypertrophic cardiomyopathy, Intrauterine growth retardation, Thrombocytopenia, Anemia	ORPHA:295
3-Methylglutaconic Aciduria, Type Viia	Anisopoikilocytosis, Anemia, Neutropenia	OMIM:619835
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Shor...	OMIM:613673
Myeloma, Multiple	Paraproteinemia, Multiple myeloma	OMIM:254500
Immunodeficiency, Common Variable, 7	Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic partially decreas...	OMIM:614699
Chromosome 5Q Deletion Syndrome	Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia	OMIM:153550
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Short stature, Abnormal hemoglobin, Anemia	ORPHA:3319
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Pallor, Poikilocytosis, Fava bean-indu...	OMIM:300908
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy...	OMIM:300835
Fanconi Anemia, Complementation Group G	Abnormality of chromosome stability, Leukemia, Myelodysplasia	OMIM:614082
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Heinz Body Anemias	Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia	OMIM:140700
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Pyruvate Kinase Deficiency Of Red Cells	Decreased hemoglobin concentration, Reticulocytosis, Reduced red cell pyruvate kinase level, Sple...	OMIM:266200
X-Linked Sideroblastic Anemia	Splenomegaly, Pallor, Anemia	ORPHA:75563
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Trimethylaminuria	Tachycardia, Splenomegaly, Hypertension, Neutropenia, Anemia	OMIM:602079
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal...	OMIM:612690
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Leukocytosis, Anemia	OMIM:619398
Elliptocytosis 3	Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia	OMIM:617948
Nephronophthisis	Anemia	ORPHA:655
Fanconi Anemia, Complementation Group J	Chromosomal breakage induced by crosslinking agents	OMIM:609054
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Postnatal growth retardation, Splenomegaly, Abnormal erythrocy...	ORPHA:288
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Chromosomal breakage induced by crosslinking agents	OMIM:616435
Developmental And Epileptic Encephalopathy 50	Schistocytosis, Anisopoikilocytosis, Anemia, Acanthocytosis	OMIM:616457
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Primary Myelofibrosis	Pancytopenia, Extramedullary hematopoiesis, Petechiae, Thrombocytopenia, Leukocytosis, Splenomega...	ORPHA:824
Diamond-Blackfan Anemia 9	Growth delay, Anemia	OMIM:613308
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Pallor, Poikilocytosis, Anemia	OMIM:616959
Diamond-Blackfan Anemia 16	Pulmonic stenosis, Anemia	OMIM:617408
Reticuloendotheliosis, X-Linked	Anemia, Hepatosplenomegaly	OMIM:312500
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Decreased circulating IgG level	OMIM:242870
Congenital Atransferrinemia	Anemia	ORPHA:1195
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Hyperbilirubinemia, Shunt, Primary	Splenomegaly, Reticulocytosis, Anemia of inadequate production, Erythroid hyperplasia	OMIM:237800
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Elliptocytosis, Anemia of inadequate production	OMIM:166910
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:611926
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity	Abnormality of chromosome stability	OMIM:600546
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Anemia, Hepatosplenomegaly	OMIM:273680
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:619281
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Decreased circulating antibody level	OMIM:616873
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Abnormal immunoglobulin level, Increased circulating IgE level, Decreased circulating antibody le...	ORPHA:98813
Hydrops Fetalis, Nonimmune	Congestive heart failure, Anemia	OMIM:236750
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Partial absence of specific antibody response ...	OMIM:301082
Radial-Renal Syndrome	Chromosome breakage	OMIM:179280
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis	OMIM:616649
Immunodeficiency, Common Variable, 5	Chronic decreased circulating total IgG	OMIM:613495
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Epistaxis, Anemia	OMIM:616176
Acute Peripheral Arterial Occlusion	Leukocytosis, Pallor	ORPHA:90064
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Whim Syndrome 1	Decreased circulating IgG level, Verrucae, Decreased circulating antibody level	OMIM:193670
Diamond-Blackfan Anemia 4	Macrocytic anemia, Short stature, Erythroid hypoplasia, Reticulocytopenia, Growth delay, Neutropenia	OMIM:612527
Hemoglobin H Disease	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Spherocytosis, Type 3	Hemolytic anemia, Spherocytosis	OMIM:270970
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Reticulocytosis, Short stature, Hepatosplenomegaly, Decreased mean corpuscular ...	OMIM:611590
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Skin ulcer, Anemia, Pallor, Thrombocytopenia	ORPHA:848
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Immunodeficiency 54	Chromosome breakage, Lymphoproliferative disorder	OMIM:609981
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Reduced platelet ...	OMIM:314050
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis, Short stature	ORPHA:66518
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Abnormal cardiac ventricular function, Anemia of inadequate...	ORPHA:98826
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:614069
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM	OMIM:615139
Hyperlysinemia, Type I	Anemia	OMIM:238700
Immunodeficiency, Common Variable, 1	Decreased circulating total IgM, Decreased circulating IgG level, Impaired T cell function, Decre...	OMIM:607594
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia	OMIM:133180
Immunodeficiency 11B With Atopic Dermatitis	Decreased circulating total IgM, Increased circulating IgE level	OMIM:617638
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Immunodeficiency 11A	Agammaglobulinemia, Reduced antigen-specific T cell proliferation, Decreased circulating antibody...	OMIM:615206
Hb Bart'S Hydrops Fetalis	Splenomegaly, Pallor, Abnormal hemoglobin, Anemia	ORPHA:163596
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag	Monoclonal immunoglobulin M proteinemia	ORPHA:639
Thiamine-Responsive Megaloblastic Anemia Syndrome	Short stature, Pallor, Thrombocytopenia, Megaloblastic anemia	ORPHA:49827
Hereditary Spherocytosis	Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Splenomegaly, Sphero...	ORPHA:822
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Short Stature With Microcephaly And Distinctive Facies	Severe short stature, Anisopoikilocytosis, Anemia	OMIM:615789
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level	ORPHA:2643
Immunodeficiency 109 With Lymphoproliferation	Decreased lymphocyte proliferation in response to anti-CD3, Hodgkin lymphoma, Decreased circulati...	OMIM:620282
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Growth delay, Sideroblastic anemia, Pallor	OMIM:613561
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal reticulocyte morphology, Short stature	ORPHA:2522
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Short stature, Pallor	ORPHA:2786
Ovalocytosis, Southeast Asian	Hemolytic anemia, Elliptocytosis	OMIM:166900
Spherocytosis, Type 4	Splenomegaly, Hemolytic anemia, Spherocytosis, Reticulocytosis	OMIM:612653
Acute Erythroid Leukemia	Anemia, Erythroid hypoplasia, Pancytopenia, Leukopenia	ORPHA:318
Elliptocytosis 2	Hemolytic anemia, Elliptocytosis, Reticulocytosis	OMIM:130600
Immunodeficiency 60 And Autoimmunity	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgE, Decr...	OMIM:618394
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega...	ORPHA:3202
Fanconi Anemia, Complementation Group S	Chromosome breakage, Ovarian carcinoma, Breast carcinoma, Ovarian neoplasm	OMIM:617883
Fanconi Anemia, Complementation Group N	Nephroblastoma, Medulloblastoma, Neuroblastoma, Chromosomal breakage induced by crosslinking agents	OMIM:610832
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Lathosterolosis	Meningocele, Anisopoikilocytosis, Abnormal platelet morphology, Intrauterine growth retardation, ...	ORPHA:46059
Familial Pseudohyperkalemia	Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume	ORPHA:90044
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome...	ORPHA:71275
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly	OMIM:608898
Immunodeficiency 50	Decreased circulating antibody level	OMIM:300988
Leishmaniasis	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Skin ulcer, Anemia, Leukopenia, Pallo...	ORPHA:507
Evans Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop...	ORPHA:1959
Immunodeficiency 96	Decreased circulating total IgM, Defective T cell proliferation, Decreased circulating IgG level,...	OMIM:619774
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Cerebral hemorrhage, Anemia, Pulmonary embolism	OMIM:614514
Spastic Ataxia-Corneal Dystrophy Syndrome	Decreased circulating antibody level	ORPHA:2572
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Growth delay, Pallor, Hypochromic a...	OMIM:600462
Lathosterolosis	Increased mean platelet volume, Acanthocytosis, Myelomeningocele, Schistocytosis, Anisopoikilocyt...	OMIM:607330
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Increased circulating IgG level, Increased circulating IgE level, Decreased circulating total IgM...	OMIM:243700
Anemia, Hypochromic Microcytic, With Iron Overload 1	Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia	OMIM:206100
Glutamate-Cysteine Ligase Deficiency	Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis	ORPHA:33574
Gaisböck Syndrome	Angina pectoris, Myocardial infarction, Splenomegaly, Increased mean corpuscular hemoglobin conce...	ORPHA:90041
Immunodeficiency, Common Variable, 2	Impaired T cell function, Lymphoma, Neoplasm, Decreased circulating IgG level, Partial absence of...	OMIM:240500
Megaloblastic Anemia, Folate-Responsive	Episodic hemolytic anemia, Schistocytosis, Folate-responsive megaloblastic anemia, Hypersegmentat...	OMIM:601775
Spherocytosis, Type 1	Splenomegaly, Hemolytic anemia, Spherocytosis, Reticulocytosis	OMIM:182900
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased red...	OMIM:194380
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level	OMIM:619705
Diamond-Blackfan Anemia 5	Macrocytic anemia, Short stature, Erythroid hypoplasia, Reticulocytopenia, Leukopenia	OMIM:612528
Dermatitis, Atopic	Dry skin, Pallor, Facial erythema	OMIM:603165
Anemia, Congenital Dyserythropoietic, Type Ii	Splenomegaly, Reticulocytosis, Anemia of inadequate production	OMIM:224100
Orotic Aciduria	Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi...	OMIM:258900
Fanconi Anemia, Complementation Group V	Chromosomal breakage induced by crosslinking agents	OMIM:617243
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis	OMIM:179700
Immunodeficiency 85 And Autoimmunity	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgE, Decr...	OMIM:619510
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:620210
Mitochondrial Complex I Deficiency, Nuclear Type 39	Intrauterine growth retardation, Hypertrophic cardiomyopathy, Anemia, Cryptorchidism	OMIM:620135
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Optic Atrophy 1	Pallor	OMIM:165500
Bone Marrow Failure Syndrome 2	Leukopenia, Thrombocytopenia, Anemia	OMIM:615715
Fanconi Anemia, Complementation Group O	Chromosome breakage	OMIM:613390
Thrombocytopenia 5	Epistaxis, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia...	OMIM:616216
Mitochondrial Complex Iv Deficiency, Nuclear Type 16	Chromosomal breakage induced by crosslinking agents	OMIM:619060
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, Growth delay, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Dyskeratosis Congenita, Digenic	Decreased circulating total IgM, Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the s...	OMIM:620040
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Megaloblastic anemia, Increased mean corpuscular volume, Pallor, Thrombocytopenia	OMIM:613839
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia	ORPHA:846
Immunodeficiency 15B	Agammaglobulinemia, Decreased lymphocyte proliferation in response to mitogen, Decreased circulat...	OMIM:615592
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ...	OMIM:301081
Fragile X Syndrome	Folate-dependent fragile site at Xq28	OMIM:300624
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia	OMIM:615285
Myelofibrosis	Splenomegaly, Pallor, Myeloproliferative disorder, Purpura	OMIM:254450
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Increased circulating IgG level, Increased circulating IgM level, Facial papilloma	OMIM:619220
Rh-Null, Regulator Type	Hemolytic anemia, Stomatocytosis	OMIM:268150
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2	Increased susceptibility to spontaneous sister chromatid exchange	OMIM:618097
Bleeding Disorder, Platelet-Type, 16	Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Thrombocytopenia	OMIM:187800
Agammaglobulinemia 7, Autosomal Recessive	Agammaglobulinemia, Panhypogammaglobulinemia	OMIM:615214
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia	OMIM:200900
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe...	ORPHA:232
Ichthyosis, Congenital, Autosomal Recessive 5	White scaling skin, Acanthocytosis	OMIM:604777
Diamond-Blackfan Anemia 12	Macrocytic anemia, Reticulocytopenia, Normochromic anemia	OMIM:615550
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Increased circulating IgM level, Decreased circulating IgG2 level, Decreased specific pneumococca...	OMIM:615513
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating total IgM, Decreased circulating IgG level, Increased circulating IgE level...	OMIM:619752
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:616100
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Anemia	ORPHA:1802
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Myocardial infarction, Microangiopathic hemolytic anemia, Arrhythmia, Thrombocyt...	ORPHA:54057
Cold Agglutinin Disease	Splenomegaly, Hemolytic anemia, Pallor	ORPHA:56425
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Patent ductus arteriosus, H...	OMIM:617021
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Lymphoproliferative disorder, B-cell lymphoma, Lymphoma, Decreased specific anti-polysaccharide a...	OMIM:300853
Immunodeficiency 25	Increased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level...	OMIM:610163
Nut Midline Carcinoma	Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc...	ORPHA:443167
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Petechiae, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Ecchym...	OMIM:153670
Immunodeficiency 95	Decreased circulating IgG3 level, Increased circulating IgG3 level	OMIM:619773
Fragile X Syndrome	Folate-dependent fragile site at Xq28	ORPHA:908
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia, Pallor	ORPHA:90037
Red Cell Permeability Defect	Elliptocytosis	OMIM:179650
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Lymphoma, Decreased circulating antibody level, Decreased circulating total IgM, Decreased circul...	ORPHA:436159
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Diamond-Blackfan Anemia 20	Erythroid hypoplasia, Anemia	OMIM:618313
Ataxia-Pancytopenia Syndrome	Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto...	OMIM:159550
Immunodeficiency 64 With Lymphoproliferation	B-cell lymphoma, Increased circulating IgA level, Increased circulating IgG level, Increased circ...	OMIM:618534
Immunoglobulin A Deficiency 2	Decreased circulating IgA level	OMIM:609529
Formiminoglutamic Aciduria	Anemia, Megaloblastic anemia	ORPHA:51208
Orthostatic Hypotension 2	Orthostatic hypotension, Anemia	OMIM:618182
Colchicine Poisoning	Myocarditis, Congestive heart failure, Leukocytosis, Hypovolemia, Hypotension, Cardiogenic shock,...	ORPHA:31824
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating total IgM, Decreased circulating IgA level	OMIM:614878
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Folate-dependent fragile site at Xq28	ORPHA:85327
Fanconi Anemia, Complementation Group Q	Chromosome breakage	OMIM:615272
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volume	OMIM:185000
Letterer-Siwe Disease	Hepatosplenomegaly, Anemia, Pallor, Neutropenia, Thrombocytopenia	OMIM:246400
Ataxia-Pancytopenia Syndrome	Abnormal platelet function, Acute myelomonocytic leukemia, Decreased circulating antibody level	ORPHA:2585
Stormorken-Sjaastad-Langslet Syndrome	Asplenia, Short stature, Anemia	ORPHA:3204
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level	OMIM:233650
Acute Adrenal Insufficiency	Normocytic anemia, Orthostatic hypotension, Myocardial infarction, Hypovolemia, Hypotension, Dela...	ORPHA:95409
Intermediate Generalized Junctional Epidermolysis Bullosa	Growth delay, Anemia	ORPHA:79402
Hemochromatosis, Type 2B	Splenomegaly, Congestive heart failure, Anemia, Cardiomyopathy	OMIM:613313
Immunodeficiency, Common Variable, 10	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:615577
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom...	ORPHA:231222
Idiopathic Aplastic Anemia	Pancytopenia, Epistaxis, Reticulocytopenia, Retinal hemorrhage, Anemia, Neutropenia, Thrombocytop...	ORPHA:88
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating antibody level, Decreased circulating total IgM, Reduced antigen-specific T...	ORPHA:331206
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia	OMIM:616941
Phosphoglycerate Kinase 1 Deficiency	Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis	OMIM:300653
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Pallor, Neutropenia, Decreased proportion ...	ORPHA:101096
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Splenomegaly, Thrombocytopenia, Growth delay, Anemia	OMIM:611490
Optic Atrophy 7 With Or Without Auditory Neuropathy	Pallor	OMIM:612989
Sneddon Syndrome	Decreased circulating total IgM	OMIM:182410
Primary Intestinal Lymphangiectasia	Disseminated cutaneous warts, Decreased circulating antibody level, Decreased circulating total I...	ORPHA:90362
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Intrauterine growth retardation, Short stature, Anemia, Neutropenia	OMIM:617056
Immunodeficiency 46	Neutropenia, Anemia, Intermittent thrombocytopenia	OMIM:616740
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Normochromic anemia, Nonspherocytic hemolytic a...	OMIM:235700
Alpha-Heavy Chain Disease	Growth delay, Splenomegaly, Anemia	ORPHA:100025
Deafness-Lymphedema-Leukemia Syndrome	Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloproliferative disorde...	ORPHA:3226
Lymphoproliferative Syndrome, X-Linked, 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Lymphoma, Decreased circulating antib...	OMIM:308240
Bone Marrow Failure Syndrome 4	Rhizomelia, Short stature, Anemia, Leukopenia, Thrombocytopenia	OMIM:618116
Immunodeficiency 22	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgE, Decr...	OMIM:615758
Primary Lateral Sclerosis, Juvenile	Pallor	OMIM:606353
Bloom Syndrome	Acute myeloid leukemia, Malignant genitourinary tract tumor, Myelodysplasia, Esophageal neoplasm,...	ORPHA:125
Autoimmune Lymphoproliferative Syndrome	B-cell lymphoma, Increased circulating IgA level, Fibroadenoma of the breast, Increased circulati...	ORPHA:3261
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration	Acanthocytosis	OMIM:607236
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Megaloblastic anemia, Pallor, Thrombocytopenia	ORPHA:90045
Lysosomal Acid Lipase Deficiency	Bone-marrow foam cells, Hypersplenism, Vacuolated lymphocytes, Hypovolemia, Hepatosplenomegaly, H...	ORPHA:275761
Attrv122I Amyloidosis	Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Congestive heart failure, Re...	ORPHA:85451
Growth Hormone Deficiency, Isolated Partial	Postnatal growth retardation, Short stature	OMIM:615925
Cyclic Vomiting Syndrome	Growth delay, Pallor	OMIM:500007
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Immunoglobulin A Deficiency 1	Decreased circulating IgA level	OMIM:137100
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Anemia	ORPHA:371
Plummer-Vinson Syndrome	Iron deficiency anemia, Pallor, Hypochromic microcytic anemia	ORPHA:54028
Combined Oxidative Phosphorylation Deficiency 42	Neonatal death, Intrauterine growth retardation, Anemia, Cardiomyopathy	OMIM:618839
Combined Oxidative Phosphorylation Deficiency 40	Neonatal death, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Anemia	OMIM:618835
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic anemia, Macrocytic dyserythropoietic anemia	OMIM:619789
Dohle Bodies And Leukemia	Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia	OMIM:223350
Fanconi Anemia, Complementation Group U	Chromosome breakage	OMIM:617247
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid hype...	OMIM:616860
Sitosterolemia 1	Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly...	OMIM:210250
Immunodeficiency, Common Variable, 8, With Autoimmunity	Lymphoproliferative disorder, Lymphoma, Decreased circulating total IgM, Decreased specific antib...	OMIM:614700
Marburg Hemorrhagic Fever	Shock, Lymphopenia, Reticulocytosis, Tachycardia, Pericarditis, Orchitis, Neutrophilia in presenc...	ORPHA:99826
Mu-Heavy Chain Disease	Splenomegaly, Abnormal B cell count, Anemia	ORPHA:100024
Fanconi Anemia, Complementation Group P	Chromosomal breakage induced by crosslinking agents, Squamous cell carcinoma	OMIM:613951
Agammaglobulinemia 3, Autosomal Recessive	Agammaglobulinemia, Absent isohemagglutinin level	OMIM:613501
Mixed-Type Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Pallor	ORPHA:90036
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hydrocele testis, Anemia, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia	OMIM:616738
Bloom Syndrome	Chromosome breakage, Abnormality of chromosome stability, Lymphoma, Squamous cell carcinoma, Leuk...	OMIM:210900
Combined Oxidative Phosphorylation Deficiency 41	Intrauterine growth retardation, Anemia	OMIM:618838
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Growth delay, Anemic pallor, Anemia	ORPHA:329971
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Anemic pallor, Anemia of inadequate production, Leukocytosis, Abnormal me...	ORPHA:86839
Bone Marrow Failure Syndrome 5	Short stature, Pure red cell aplasia, Erythroid hypoplasia, Growth delay, Testicular atrophy, Anemia	OMIM:618165
Autoimmune Hemolytic Anemia, Warm Type	Splenomegaly, Autoimmune hemolytic anemia, Pallor, Chronic lymphatic leukemia	ORPHA:90033
Abetalipoproteinemia	Acanthocytosis	OMIM:200100
Diffuse Neonatal Hemangiomatosis	Thrombocytopenia, Patent ductus arteriosus, Anemia	ORPHA:2123
Immunodeficiency With Hyper-Igm, Type 1	Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circulating IgA level, Im...	OMIM:308230
Immunodeficiency 97 With Autoinflammation	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:619802
Ataxia-Telangiectasia	Abnormality of chromosome stability, Neoplasm	ORPHA:100
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Immunodeficiency 43	Decreased circulating IgG level, Decreased specific antibody response to polysaccharide vaccine, ...	OMIM:241600
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Pallor	ORPHA:276608
Focal Segmental Glomerulosclerosis 1	Hypertension, Anemia	OMIM:603278
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Reduced delayed hypersensitivity, Increased circulating IgE level, Increased circulating IgM leve...	OMIM:617241
Hemochromatosis, Type 3	Cardiomyopathy, Lymphopenia, Anemia, Neutropenia	OMIM:604250
Lesch-Nyhan Syndrome	Anemia	ORPHA:510
Combined Immunodeficiency, X-Linked	Decreased circulating IgG level	OMIM:312863
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia, Purpura	OMIM:235400
Harderoporphyria	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:618892
Immunodeficiency 48	Panhypogammaglobulinemia	OMIM:269840
Familial Hypoaldosteronism	Growth delay, Orthostatic hypotension, Hypovolemia, Hypotension	ORPHA:427
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Transcobalamin Ii Deficiency	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:275350
Arthrogryposis Multiplex Congenita 5	Normocytic anemia, Acanthocytosis, Growth delay, Poikilocytosis, Umbilical hernia, Premature skin...	OMIM:618947
Senior-Loken Syndrome 4	Anemia	OMIM:606996
Amed Syndrome, Digenic	Acute myeloid leukemia, Short stature, Anemia, Leukopenia, Thrombocytopenia	OMIM:619151
Spontaneous Periodic Hypothermia	Pallor	ORPHA:29822
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Absent specific antibody response, B-cell lymphoma, Increased circulating IgE level, Decreased ci...	OMIM:102700
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola...	ORPHA:90068
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Pallor, Anemia	OMIM:246450
Thymoma	Neoplasm of head and neck, Abnormal lymphocyte proliferation, Abnormal lymphocyte physiology, Dec...	ORPHA:99867
Familial Benign Copper Deficiency	Short stature, Anemia	ORPHA:1551
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Epistaxis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Anemia	OMIM:612840
Fanconi Anemia, Complementation Group R	Chromosomal breakage induced by crosslinking agents	OMIM:617244
Nephrogenic Diabetes Insipidus	Growth delay, Hypovolemia, Short stature	ORPHA:223
Immunodeficiency, Common Variable, 11	Decreased circulating IgG level, Increased circulating IgE level	OMIM:615767
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Growth delay, ...	OMIM:616084
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia	OMIM:618849
Immunodeficiency 37	Decreased circulating antibody level	OMIM:616098
Selective Igm Deficiency	Paraproteinemia, Decreased circulating total IgM, Decreased specific antibody response to vaccina...	ORPHA:331235
Peripartum Cardiomyopathy	Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card...	ORPHA:563
Oslam Syndrome	Anemia	OMIM:165660
Congenital Heart Block	Intrauterine growth retardation, Pallor	ORPHA:60041
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Transient ischemic attack, Subarachnoid hemorrhage, Patent ductus arteriosu...	ORPHA:91387
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis	ORPHA:713
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Chromosome breakage	OMIM:617052
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Agammaglobulinemia, Decreased circulating antibody level	OMIM:616910
Fanconi Anemia, Complementation Group I	Chromosomal breakage induced by crosslinking agents	OMIM:609053
Immunodeficiency 36 With Lymphoproliferation	B-cell lymphoma, Chronic lymphatic leukemia, Increased circulating IgM level, Decreased circulati...	OMIM:616005
Activated Pi3K-Delta Syndrome	Increased circulating IgM level, Lymphoma, Decreased circulating antibody level	ORPHA:397596
Neonatal Lupus Erythematosus	Prolonged QT interval, Hemolytic anemia, Pancytopenia, Aplastic anemia, Heart block, Splenomegaly...	ORPHA:398124
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Thrombocytopenia, Anemia	OMIM:615085
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean...	OMIM:618278
Immunoneurologic Disorder, X-Linked	Decreased circulating IgG2 level	OMIM:300076
Congenital Disorder Of Glycosylation, Type Ig	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:607143
Retinitis Pigmentosa 51	Pallor	OMIM:613464
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Decreased lymphocyte proliferation in response to anti-CD3, Decreased circulating antibody level,...	ORPHA:221139
Neuronal Intestinal Pseudoobstruction	Decreased circulating antibody level	ORPHA:99811
Idiopathic Pulmonary Hemosiderosis	Iron deficiency anemia, Pallor, Hepatosplenomegaly	ORPHA:99931
Agammaglobulinemia, X-Linked	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgE, Decreased circula...	OMIM:300755
Riddle Syndrome	Decreased circulating IgG level	OMIM:611943
Immunodeficiency, Common Variable, 6	Complete or near-complete absence of specific antibody response to tetanus vaccine, Chronic decre...	OMIM:613496
Lymphoproliferative Syndrome 2	Lymphoproliferative disorder, Lymphoma, Hodgkin lymphoma, Decreased circulating antibody level, D...	OMIM:615122
Amme Complex	Umbilical hernia, Elliptocytosis, Intrauterine growth retardation	OMIM:300194
Dyskeratosis Congenita, Autosomal Recessive 8	Chromosomal breakage induced by crosslinking agents	OMIM:620133
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased circulating IgA level, Decreased circulating antibody level	OMIM:617744
Fanconi Anemia, Complementation Group E	Deficient excision of UV-induced pyrimidine dimers in DNA, Leukemia, Chromosomal breakage induced...	OMIM:600901
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Decreased circulating antibody level	OMIM:619846
Corticosteroid-Binding Globulin Deficiency	Hypotension, Hypertension, Anemia	OMIM:611489
Hyperinsulinism Due To Ucp2 Deficiency	Pallor	ORPHA:276556
Gaucher Disease, Type I	Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Anemia, Hypertension, Mitral regurgitation,...	OMIM:230800
Sickle Cell Disease	Hemolytic anemia, Splenomegaly, Leukocytosis, Splenic infarction, Increased red cell sickling ten...	OMIM:603903
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Bone marrow hypocellularity, Myelodysplasia, Decreased circulating antibody level	OMIM:619767
Diamond-Blackfan Anemia	Acute myeloid leukemia, Short stature, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytop...	ORPHA:124
Diamond-Blackfan Anemia 10	Macrocytic anemia, Short stature, Patent ductus arteriosus, Reticulocytopenia, Growth delay, Ster...	OMIM:613309
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr...	OMIM:300291
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Vasculitis in the skin, Anemia	OMIM:620296
Mogs-Cdg	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	ORPHA:79330
Maternal Uniparental Disomy Of Chromosome 4	Postnatal growth retardation, Abnormal erythrocyte morphology, Short stature, Acanthocytosis	ORPHA:96180
Myotonic Dystrophy 2	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:602668
Fanconi Anemia, Complementation Group A	Deficient excision of UV-induced pyrimidine dimers in DNA, Leukemia, Chromosomal breakage induced...	OMIM:227650
Schnitzler Syndrome	Increased circulating IgM level, Lymphoma	ORPHA:37748
Irida Syndrome	Pallor	ORPHA:209981
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Pallor	ORPHA:276575
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:274150
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Decreased specific pneumococcal antibody level	OMIM:617006
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Anemia	ORPHA:2668
Microvillus Inclusion Disease	Hypovolemia	ORPHA:2290
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Pallor	ORPHA:276580
Glycogen Storage Disease Vii	Hemolytic anemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Reticulocytosis	OMIM:232800
Hyperinsulinism Due To Hnf1A Deficiency	Pallor	ORPHA:324575
Hereditary Cryohydrocytosis With Reduced Stomatin	Spontaneous hemolytic crises, Short stature, Postnatal growth retardation, Hepatosplenomegaly, St...	ORPHA:168577
Secondary Intestinal Lymphangiectasia	Decreased circulating IgG1 level, B-cell lymphoma, Lymphoma, Decreased circulating antibody level...	ORPHA:90363
Hypobetalipoproteinemia, Familial, 1	Acanthocytosis	OMIM:615558
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Erythema, Reticulocytopenia, Pallor, Neutro...	OMIM:557000
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia	Transient hypogammaglobulinemia of infancy	OMIM:251240
Immunodeficiency 32B	Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytopenia, Thromb...	OMIM:226990
Stormorken Syndrome	Howell-Jolly bodies, Short stature, Epistaxis, Subarachnoid hemorrhage, Asplenia, Anemia, Hypopla...	OMIM:185070
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Short stature, Splenomegaly, Growth delay, Stomatocytosis	OMIM:608885
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Anemia	OMIM:613092
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Thrombocytopenia, Hypertension, Microangiopathic hemolytic anemia, Anemia	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Thrombocytopenia, Hypertension, Microangiopathic hemolytic anemia, Anemia	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Thrombocytopenia, Hypertension, Microangiopathic hemolytic anemia, Anemia	OMIM:612926
Chylomicron Retention Disease	Growth delay, Acanthocytosis	ORPHA:71
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Partial IgA deficiency, Lack of T cell function, Decreased circulating total IgM, Decreased lymph...	ORPHA:35078
Epilepsy-Telangiectasia Syndrome	Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Decreased circulating antibody level	ORPHA:85317
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Thrombocytopenia, Hypertension, Microangiopathic hemolytic anemia, Anemia	OMIM:612924
Rosaï-Dorfman Disease	Dysgammaglobulinemia	ORPHA:158014
Ovarian Hyperstimulation Syndrome	Hypovolemia, Capillary leak	ORPHA:64739
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Lymphoma, Decreased circulating total IgM, Decreased circulating IgG level, Decreased specific pn...	ORPHA:183675
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Increased circulating IgE level, Decreased circulating antibody level, Decreased circulating tota...	ORPHA:508533
Immunodeficiency 47	Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota...	OMIM:300972
Fanconi Anemia, Complementation Group L	Chromosome breakage, Chromosomal breakage induced by crosslinking agents	OMIM:614083
Arteriosclerosis, Severe Juvenile	Short stature, Myocardial infarction, Hypertension, Delayed puberty, Anemia	OMIM:208060
Sepsis In Premature Infants	Petechiae, Splenomegaly, Leukocytosis, Anemia, Pallor, Neutropenia, Thrombocytopenia, Purpura	ORPHA:90051
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level...	OMIM:601859
Lymphoproliferative Syndrome 1	Lymphoproliferative disorder, B-cell lymphoma, Hodgkin lymphoma, Decreased circulating antibody l...	OMIM:613011
Hydatidiform Mole	Anemia	ORPHA:99927
Myopathic Ehlers-Danlos Syndrome	Pallor	ORPHA:536516
Fanconi Anemia, Complementation Group C	Deficient excision of UV-induced pyrimidine dimers in DNA, Leukemia, Chromosomal breakage induced...	OMIM:227645
Choreoacanthocytosis	Acanthocytosis	OMIM:200150
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Thrombocytopenia, Hypertension, Microangiopathic hemolytic anemia, Anemia	OMIM:612925
Dravet Syndrome	Pallor	ORPHA:33069
Copper Deficiency, Familial Benign	Anemia	OMIM:121270
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Noncompaction cardiomyopathy, Tricuspid regurgitation, Short stature, Thrombocytopenia, Congestiv...	ORPHA:508542
Lambert Syndrome	Decreased circulating antibody level	ORPHA:1296
Congenital Disorder Of Glycosylation, Type Iir	Decreased circulating antibody level	OMIM:301045
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Portal hypertension, Cryptorchidism, Anemia, Lymphopenia, Thrombocytopenia	OMIM:620365
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Abnormal natural killer cell physiology, Decreased circulating antibody level	OMIM:613101
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Cryptorchidism, Hypovolemia, Abnormality of the Leydig cells, Hypotension, Delayed puberty, Decre...	ORPHA:168558
Kcnq2-Related Epileptic Encephalopathy	Pallor, Facial erythema	ORPHA:439218
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Cryptorchidism, Hypovolemia, Abnormality of the Leydig cells, Hypotension, Delayed puberty, Decre...	ORPHA:289548
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia	OMIM:618398
8P11.2 Deletion Syndrome	Hemolytic anemia, Short stature, Splenomegaly, Spherocytosis, Growth delay	ORPHA:251066
Diamond-Blackfan Anemia 1	Macrocytic anemia, Short stature, Thrombocytosis, Congenital hypoplastic anemia, Reticulocytopeni...	OMIM:105650
Non-Functioning Paraganglioma	Pallor	ORPHA:94080
Lig4 Syndrome	Abnormality of chromosome stability, Lymphoma, Acute leukemia	ORPHA:99812
Waldenström Macroglobulinemia	Normocytic anemia, Abnormality of neutrophils, Splenomegaly, Pallor, Leukemia, Purpura	ORPHA:33226
Immunodeficiency 52	Decreased circulating antibody level	OMIM:617514
Neutrophilic Dermatosis, Acute Febrile	Small vessel vasculitis, Dilated cardiomyopathy, Anemia	OMIM:608068
Osteopetrosis, Autosomal Recessive 7	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:612301
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Isolated Permanent Neonatal Diabetes Mellitus	Intrauterine growth retardation, Hypovolemia	ORPHA:99885
Wiskott-Aldrich Syndrome	Lymphoproliferative disorder, Reduced natural killer cell activity, Increased circulating IgA lev...	OMIM:301000
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Anemia	ORPHA:3405
American Trypanosomiasis	Splenomegaly, Pallor	ORPHA:3386
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Fibroma, Decreased circulating antibody level	OMIM:619750
Osteopetrosis, Autosomal Recessive 9	Postnatal growth retardation, Anemia	OMIM:620366
Proteasome-Associated Autoinflammatory Syndrome 2	Increased circulating IgG level, Abnormal circulating IgM level, Increased circulating IgA level	OMIM:618048
Nephronophthisis 1	Growth delay, Hypertension, Anemia	OMIM:256100
Immunodeficiency 55	Absent natural killer cells, Short stature, Postnatal growth retardation, Dry skin, Neutropenia, ...	OMIM:617827
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymphoproliferative disorder, Abnormal immunoglobulin level, Lymphoma, Increased circulating IgG ...	ORPHA:276
Icf Syndrome	Short stature, Abnormality of neutrophils, Umbilical hernia, Lymphopenia, Anemia	ORPHA:2268
Hemochromatosis, Type 5	Anemia	OMIM:615517
Fanconi Anemia, Complementation Group F	Chromosomal breakage induced by crosslinking agents	OMIM:603467
Fanconi Anemia, Complementation Group D2	Deficient excision of UV-induced pyrimidine dimers in DNA, Leukemia, Chromosomal breakage induced...	OMIM:227646
Cowden Syndrome 1	Fibroadenoma of the breast, Breast carcinoma, Carcinoma, Hamartomatous polyposis, Decreased circu...	OMIM:158350
Mcleod Syndrome	Splenomegaly, Acanthocytosis	OMIM:300842
Immunodeficiency 57 With Autoinflammation	Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ...	OMIM:618108
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Abnorma...	ORPHA:100026
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased circulating IgG level, Verrucae, Decreased circulating IgA level	ORPHA:275
Alopecia Antibody Deficiency	Decreased circulating antibody level	ORPHA:1006
Nephronophthisis 4	Growth delay, Anemia	OMIM:606966
Myopathy, Mitochondrial, And Ataxia	Growth delay, Short stature, Pallor	OMIM:617675
3-Hydroxy-3-Methylglutaric Aciduria	Leukocytosis, Leukopenia, Pallor, Thrombocytosis, Anemia	ORPHA:20
Simple Cryoglobulinemia	Monoclonal elevation of circulating IgA, B-cell lymphoma, Monoclonal elevation of IgG, Paraprotei...	ORPHA:91139
Reticular Dysgenesis	Decreased circulating antibody level	ORPHA:33355
Lymphoproliferative Syndrome, X-Linked, 2	Decreased circulating antibody level	OMIM:300635
Meningioma	Neoplasm of the anterior pituitary, Neurofibroma, Chromosomal breakage induced by ionizing radiat...	ORPHA:2495
Riddle Syndrome	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	ORPHA:420741
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Panhypogammaglobulinemia	OMIM:601457
Cone-Rod Dystrophy 8	Pallor	OMIM:605549
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor	ORPHA:13
Beta-Ketothiolase Deficiency	Thrombocytosis, Leukocytosis, Pallor	ORPHA:134
Lymphangiectasia, Intestinal	Decreased circulating IgG level	OMIM:152800
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased circulating total IgA, Decreased circulating IgG level, Increased circulating antibody ...	ORPHA:169160
Adenohypophysitis	Normochromic anemia, Pallor	ORPHA:95512
Juvenile Nephropathic Cystinosis	Growth delay, Hypovolemia	ORPHA:411634
Tay-Sachs Disease	Pallor	OMIM:272800
Rheumatic Fever	Erythema, Pallor	ORPHA:3099
Sandifer Syndrome	Hematemesis, Anemia	ORPHA:71272
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Decreased circulating total IgM, Decreased circulating IgA level	ORPHA:369837
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Leukopenia, Poikilocytosis, Erythr...	ORPHA:79277
Immunodeficiency 27A	Increased circulating IgG level, Increased circulating IgM level	OMIM:209950
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Pallor	ORPHA:263455
Panhypophysitis	Normochromic anemia, Pallor	ORPHA:95513
Omenn Syndrome	Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,...	OMIM:603554
Hereditary Orotic Aciduria	Splenomegaly, Patent ductus arteriosus, Anemia	ORPHA:30
Immunodeficiency, Common Variable, 12, With Autoimmunity	Decreased circulating antibody level	OMIM:616576
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Reticulocytosis, Leukocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:90038
Pituitary Apoplexy	Normochromic anemia, Pallor	ORPHA:95613
Non-Functioning Pituitary Adenoma	Pallor, Anemia of inadequate production	ORPHA:91349
Glycogen Storage Disease Xii	Normocytic anemia, Short stature, Splenomegaly, Normochromic anemia, Delayed puberty, Nonspherocy...	OMIM:611881
Proximal Renal Tubular Acidosis	Growth delay, Hypovolemia, Mild postnatal growth retardation, Short stature	ORPHA:47159
Roifman Syndrome	Decreased T cell activation, Decreased circulating antibody level	ORPHA:353298
Maternal Uniparental Disomy Of Chromosome 1	Panhypogammaglobulinemia	ORPHA:251009
Spondyloepimetaphyseal Dysplasia, Krakow Type	Decreased circulating total IgM	OMIM:618162
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Decreased circulating antibody level	ORPHA:1116
Immunodeficiency 92	Partial absence of specific antibody response to tetanus vaccine, Decreased circulating IgG level...	OMIM:619652
Anemia, Congenital Dyserythropoietic, Type Iiia	Macrocytic anemia, Anemia of inadequate production, Congenital hypoplastic anemia	OMIM:105600
Autoimmune Lymphoproliferative Syndrome, Type Iia	Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level...	OMIM:603909
Senior-Loken Syndrome 8	Pallor	OMIM:616307
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:620005
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Short stature, Anemia, Hepatosplenomegaly	OMIM:259730
Dyskeratosis Congenita, Autosomal Recessive 5	Bone marrow hypocellularity, Decreased circulating antibody level	OMIM:615190
Ring Chromosome 21 Syndrome	Decreased circulating antibody level	ORPHA:1445
Sheehan Syndrome	Normochromic anemia, Dry skin, Pallor	ORPHA:91355
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Shock, Short stature, Hypovolemia, Testicular adrenal rest tumor, Hypotension, Decreased testicul...	ORPHA:90794
Childhood Absence Epilepsy	Pallor	ORPHA:64280
Incontinentia Pigmenti	Short stature, Eosinophilia, Leukocytosis, Erythema, Pallor	OMIM:308300
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An...	ORPHA:2330
Autosomal Agammaglobulinemia	Agammaglobulinemia, Verrucae	ORPHA:33110
Ataxia-Telangiectasia	Decreased circulating IgG2 level, Lymphoma, Hodgkin lymphoma, Acute lymphoblastic leukemia, Non-H...	OMIM:208900
Nijmegen Breakage Syndrome	Abnormality of chromosome stability, Glioma, B-cell lymphoma, Rhabdomyosarcoma, Lymphoma, T-cell ...	ORPHA:647
Fumarase Deficiency	Polycythemia, Pallor	OMIM:606812
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Elliptocytosis	ORPHA:86818
Xq28 (MECP2) duplication	Decreased circulating IgA level	DECIPHER:45
Immunodeficiency 82 With Systemic Inflammation	B-cell lymphoma, Decreased circulating total IgA, Decreased circulating total IgM, Decreased lymp...	OMIM:619381
Idiopathic Hypereosinophilic Syndrome	Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Mye...	ORPHA:3260
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Hodgkin lymphoma, Decreased circulating antibody level	OMIM:615952
X-Linked Agammaglobulinemia	Agammaglobulinemia, Neoplasm	ORPHA:47
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Decreased circulating antibody level	OMIM:618042
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Myocardial infarction, Pulmonary embolism, Abnor...	ORPHA:447
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Short stature, Anemia, Leukopenia, Elliptocytosis, Thrombocytopenia	ORPHA:2785
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Elliptocytosis, Short stature, Anemia	OMIM:300990
Fructose-1,6-Bisphosphatase Deficiency	Pallor	ORPHA:348
Immunodeficiency By Defective Expression Of Mhc Class Ii	Lack of T cell function, Decreased circulating antibody level, Abnormality of humoral immunity, D...	ORPHA:572
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Decreased circulating antibody level	OMIM:617780
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia	OMIM:619693
Fanconi Anemia, Complementation Group B	Abnormality of chromosome stability	OMIM:300514
Sporadic Pheochromocytoma/Secreting Paraganglioma	Pallor	ORPHA:276621
Abetalipoproteinemia	Reticulocytosis, Anemia, Acanthocytosis	ORPHA:14
Angiostrongyliasis	Increased circulating specific IgE antibody, Increased circulating IgG level, Increased circulati...	ORPHA:74
Boutonneuse Fever	Increased circulating IgG level, Increased circulating IgM level	ORPHA:83313
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Increased circulating IgM level, Decreased circulating IgA level	OMIM:242860
Carney Triad	Gastrointestinal hemorrhage, Tachycardia, Hypertension, Arrhythmia, Anemia	ORPHA:139411
Good Syndrome	Thymoma, Decreased circulating antibody level	ORPHA:169105
Cogan Syndrome	Aortic regurgitation, Leukocytosis, Vasculitis, Large vessel vasculitis, Thrombocytosis, Anemia	ORPHA:1467
Bare Lymphocyte Syndrome, Type Ii	Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia	OMIM:209920
Agammaglobulinemia 1, Autosomal Recessive	Agammaglobulinemia, Panhypogammaglobulinemia, Decreased circulating antibody level	OMIM:601495
Immunodeficiency 23	Increased circulating IgG level, Increased circulating IgE level, Increased circulating IgM level...	OMIM:615816
Pantothenate Kinase-Associated Neurodegeneration	Acanthocytosis	ORPHA:157850
Adult Idiopathic Neutropenia	Increased circulating IgM level	ORPHA:2688
Autosomal Recessive Malignant Osteopetrosis	Growth delay, Splenomegaly, Pallor, Anemia	ORPHA:667
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating interleukin 6 concentration, Reduced natural killer cell activity, Decrease...	ORPHA:540
Prolactinoma	Pallor, Delayed puberty	ORPHA:2965
Glucagonoma	Necrolytic migratory erythema, Normochromic anemia, Acanthocytosis	ORPHA:97280
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Agammaglobulinemia, T-cell lymphoma, Decreased circulating antibody level	OMIM:243150
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Increased circulating IgE level, Decreased circulating IgA level	OMIM:618282
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Cutaneous anergy, Panhypogammaglobulinemia, Decreased lymphocyte proliferation in response to ant...	OMIM:600802
Rasmussen Subacute Encephalitis	Decreased circulating total IgA	ORPHA:1929
Griscelli Syndrome	Bone marrow hypocellularity, Decreased circulating antibody level	ORPHA:381
Netherton Syndrome	Increased circulating IgE level, Decreased circulating antibody level	ORPHA:634
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Decreased circulating IgA level	OMIM:215250
Degcags Syndrome	Pancytopenia, Congenital hypoplastic anemia, Hepatosplenomegaly, Leukopenia, Iron deficiency anem...	OMIM:619488
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Tongue telangiectasia, Polycythemia, Palate telangiectasia, Fingerpa...	OMIM:600376
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Hemangioma, Decreased circulating IgA level	ORPHA:457485
Immunodeficiency 58	Decreased specific antibody response to vaccination, Decreased T cell activation, Verrucae, Decre...	OMIM:618131
Zika Virus Disease	Increased circulating IgM level	ORPHA:448237
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Leukocytosis, Pallor, Thrombocytopenia	ORPHA:544482
Hereditary Pheochromocytoma-Paraganglioma	Pallor	ORPHA:29072
Congenital Disorder Of Glycosylation, Type Iib	Decreased circulating IgA level, Decreased circulating antibody level	OMIM:606056
Alg12-Cdg	Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn...	ORPHA:79324
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to anti-CD3, Part...	OMIM:618986
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Increased circulating IgE level, Decreased specific anti-polysaccharide antibody level, Decreased...	OMIM:606367
Netherton Syndrome	Decreased circulating IgG level, Increased circulating IgE level	OMIM:256500
Vici Syndrome	Decreased circulating IgG2 level, Decreased circulating IgG level	ORPHA:1493
Common Variable Immunodeficiency	Gastrointestinal stroma tumor, Lymphoma, Decreased circulating antibody level	ORPHA:1572
Revesz Syndrome	Abnormality of chromosome stability	OMIM:268130
Alternating Hemiplegia Of Childhood	Pallor	ORPHA:2131
Mohr-Tranebjaerg Syndrome	Agammaglobulinemia	ORPHA:52368
Von Hippel-Lindau Disease	Polycythemia, Pallor	ORPHA:892
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Tongue telangiectasia, Polycythemia, Palate telangiectasia, High-out...	OMIM:187300
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Increased circulating IgM level, Increased circulating IgA level	OMIM:617099
Cartilage-Hair Hypoplasia	Abnormality of chromosome stability	ORPHA:175
Wolfram Syndrome 2	Impaired collagen-induced platelet aggregation, Decreased circulating antibody level	OMIM:604928
Immunodeficiency 56	Panhypogammaglobulinemia	OMIM:615207
Smith-Kingsmore Syndrome	Decreased circulating IgA level	OMIM:616638
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Epistaxis, Telangiectasia, Hematochezia, Mitral regurgitation, Anemia	OMIM:175050
Esophageal Atresia	Growth delay, Pallor	ORPHA:1199
Schimke Immunoosseous Dysplasia	Abnormal immunoglobulin level, Decreased circulating antibody level	OMIM:242900
Trichothiodystrophy 1, Photosensitive	Basal cell carcinoma, Decreased circulating IgG level, Squamous cell carcinoma	OMIM:601675
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Decreased circulating total IgM	ORPHA:83617
Congenital Disorder Of Glycosylation, Type Iil	Decreased specific anti-polysaccharide antibody level, Impaired T cell function	OMIM:614576
Pearson Syndrome	Reticulocytosis, Pancytopenia, Cardiac conduction abnormality, Postnatal growth retardation, Sple...	ORPHA:699
Macrocephaly/Autism Syndrome	Decreased circulating antibody level	OMIM:605309
Whim Syndrome	Decreased circulating antibody level, Papilloma, Cutaneous melanoma, Cervix cancer, Verrucae	ORPHA:51636
Lassa Fever	Increased circulating IgM level	ORPHA:99824
Mgat2-Cdg	Decreased circulating IgG level, Impaired platelet aggregation, Decreased lymphocyte proliferatio...	ORPHA:79329
Immunodeficiency 59 And Hypoglycemia	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:233600
Fanconi Anemia	Abnormality of chromosome stability, Neoplasm, Myelodysplasia	ORPHA:84
Mucopolysaccharidosis-Plus Syndrome	Increased circulating IgM level, Bone marrow hypocellularity	OMIM:617303
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Decreased circulating antibody level	OMIM:226300
Tsh-Secreting Pituitary Adenoma	Pallor, Delayed puberty	ORPHA:91347
Histiocytoid Cardiomyopathy	Pallor	ORPHA:137675
Nijmegen Breakage Syndrome	Glioma, Dysgammaglobulinemia, Rhabdomyosarcoma, Lymphoma, Medulloblastoma	OMIM:251260
Liver Failure, Infantile, Transient	Decreased circulating IgG level	OMIM:613070
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Increased circulating IgE level, Panhypogammaglobulinemia	OMIM:602450
Celiac Disease, Susceptibility To, 1	Lymphoma, Decreased circulating IgA level	OMIM:212750
Dubowitz Syndrome	Lymphoma, Acute lymphoblastic leukemia, Neuroblastoma, Decreased circulating IgG level, Decreased...	OMIM:223370
Neurodegeneration With Brain Iron Accumulation 1	Acanthocytosis	OMIM:234200
Multiple Myeloma	Increased circulating IgG level, Increased circulating IgA level, Decreased circulating antibody ...	ORPHA:29073
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ...	OMIM:617062
Mannosidosis, Alpha B, Lysosomal	Decreased circulating antibody level	OMIM:248500
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Decreased circulating antibody level	OMIM:617425
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Squamous cell carcinoma of the skin, Decreased circulating antibody level	ORPHA:79396
Choreoacanthocytosis	Abnormal erythrocyte enzyme level, Splenomegaly, Acanthocytosis	ORPHA:2388
Say-Barber-Miller Syndrome	Decreased circulating IgG level, Transient hypogammaglobulinemia of infancy, Impaired neutrophil ...	ORPHA:3132
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Decreased circulating IgA level	OMIM:613385
Autoimmune Polyendocrinopathy Type 4	Thymoma, Decreased circulating antibody level	ORPHA:227990
Multiple Endocrine Neoplasia Type 2	Pallor	ORPHA:653
Immunodeficiency 98 With Autoinflammation, X-Linked	Decreased circulating IgG level, Bone marrow hypocellularity	OMIM:301078
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Abnormal circulating interferon-gamma concentration, Abnormal circulating interleukin concentrati...	ORPHA:79124
Autoimmune Polyendocrinopathy Type 3	Thymoma, Decreased circulating antibody level	ORPHA:227982
Trichothiodystrophy	Panhypogammaglobulinemia, Squamous cell carcinoma	ORPHA:33364
Goodpasture Syndrome	Pallor, Anemia	OMIM:233450
Japanese Encephalitis	Increased circulating IgM level, Increased circulating antibody level	ORPHA:79139
Congenital Disorder Of Glycosylation, Type Ia	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:212065
Monosomy 18Q	Astrocytoma, Decreased circulating IgA level	ORPHA:1600
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Increased circulating IgM level, Decreased circulating IgG level, Bone marrow hypocellularity	ORPHA:505248
Primary Sjögren Syndrome	Lymphoproliferative disorder, Lymphoma, Decreased circulating antibody level, Decreased circulati...	ORPHA:289390
Primary Biliary Cholangitis	Increased circulating IgM level, Increased circulating IgA level	ORPHA:186
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Lymphoproliferative disorder, Bone marrow hypocellularity, Decreased circulating antibody level	OMIM:615688
Distal Deletion 19P	Decreased circulating antibody level	ORPHA:96129
Lipodystrophy, Congenital Generalized, Type 4	Decreased circulating IgA level	OMIM:613327
Vici Syndrome	Decreased circulating IgG2 level, Cutaneous anergy, Decreased circulating IgG level, Decreased T ...	OMIM:242840
Tick-Borne Encephalitis	Increased circulating IgG level, Abnormality of serum cytokine level, Increased circulating IgM l...	ORPHA:297
Rift Valley Fever	Increased circulating IgG level, Increased circulating IgM level	ORPHA:319251
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Pallor	OMIM:253280
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Increased circulating IgG level, Increased circulating IgM level	ORPHA:562639
Hennekam Syndrome	Benign neoplasm of the central nervous system, Decreased circulating antibody level	ORPHA:2136
Syndromic Diarrhea	Hepatoblastoma, Panhypogammaglobulinemia	ORPHA:84064
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Panhypogammaglobulinemia	OMIM:307200
Trichohepatoenteric Syndrome 1	Decreased circulating antibody level	OMIM:222470
Diarrhea 10, Protein-Losing Enteropathy Type	Decreased circulating antibody level	OMIM:618183
Thrombocytopenia-Absent Radius Syndrome	Decreased circulating antibody level, Facial capillary hemangioma	OMIM:274000
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia	ORPHA:935
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased circulating antibody level	ORPHA:293978
Igg4-Related Dacryoadenitis And Sialadenitis	Increased circulating IgM level, Increased circulating IgG4 level, Increased circulating IgA level	ORPHA:79078
Primary Sclerosing Cholangitis	Adenocarcinoma of the large intestine, Polyclonal elevation of IgM	ORPHA:171
Coccidioidomycosis	Increased circulating IgG level, Increased circulating IgM level	ORPHA:228123
Lysinuric Protein Intolerance	Complement deficiency, Abnormality of humoral immunity, Increased circulating antibody level, Dec...	ORPHA:470
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Decreased circulating IgG level	OMIM:271510
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased circulating antibody level	ORPHA:247598
Leukocyte Adhesion Deficiency Type Ii	Abnormal isohemagglutinin level	ORPHA:99843
Brucellosis	Increased circulating IgG level, Increased circulating IgM level	ORPHA:1304
Crimean-Congo Hemorrhagic Fever	Increased circulating IgG level, Increased circulating IgM level	ORPHA:99827
Yellow Fever	Increased circulating IgM level, Increased circulating interleukin 6 concentration	ORPHA:99829
Congenital Total Pulmonary Venous Return Anomaly	Pallor	ORPHA:99125
Sponastrime Dysplasia	Decreased circulating antibody level	ORPHA:93357
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Decreased circulating IgG level, Secretory IgA deficiency	ORPHA:500150
Viss Syndrome	Exostosis of the external auditory canal, Increased circulating IgG level, Increased circulating ...	OMIM:619472
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Decreased circulating antibody level	ORPHA:261537
Mowat-Wilson Syndrome	Decreased circulating antibody level	ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Decreased circulating antibody level	ORPHA:261552

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 Blm

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 Blm.

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

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Blm^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Blm^{em1(IMPC)Ccpcz}	Exon Deletion	Mice

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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