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 (711 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Bloom Syndrome		Neoplasm of the colon, Esophageal neoplasm, Malignant genitourinary tract tumor, Neoplasm, Decrea...	ORPHA:125
Bloom Syndrome		Chromosome breakage, Lymphoma, Squamous cell carcinoma, Leukemia, Abnormality of chromosome stabi...	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	Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Pallor, Red...	ORPHA:90039
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Polyclonal elevation of IgM, Monoclonal immunoglobulin M proteinemia, Leukemia, Lymphoma	OMIM:153600
Diamond-Blackfan Anemia 19	Steroid-responsive anemia, Anemia, Erythroid hypoplasia	OMIM:618312
Immunoerythromyeloid Hypoplasia	Lymphoproliferative disorder, Decreased circulating IgG level	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	Anemia, Transient erythroblastopenia	OMIM:227050
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hypochromia, Decreased mean corpuscular volume, Splenomegaly, Pallor, Poikilocytosis, Growth dela...	OMIM:615234
Methemoglobin Reductase Deficiency	Abnormal erythrocyte morphology	OMIM:250700
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Pallor, Anemia, Persistence of hemoglobin F, Splenomegaly	ORPHA:46532
Anemia, Congenital Dyserythropoietic, Type Ib	Anemia of inadequate production, Splenomegaly, Pallor, Anisocytosis, Anemia, Short stature, Poiki...	OMIM:615631
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Splenomegaly, Anisopoikilocytosis, Acanthocytosis, Increased m...	OMIM:616689
Immunodeficiency, Common Variable, 4	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:613494
Lymphoid System Deterioration, Progressive	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:247630
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia	Anemia, Intrauterine growth retardation	ORPHA:2802
Immunodeficiency 24	Defective T cell proliferation, Decreased circulating IgG level, Lymphoproliferative disorder, De...	OMIM:615897
Chromosomal Instability With Tissue-Specific Radiosensitivity	Neoplasm, Abnormality of chromosome stability	OMIM:215510
Diamond-Blackfan Anemia 17	Anemia	OMIM:617409
Immunoglobulin M, Level Of	Decreased circulating total IgM	OMIM:308250
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ...	OMIM:616452
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis	OMIM:603529
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly	OMIM:617441
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Agammaglobulinemia 10, Autosomal Dominant	Agammaglobulinemia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased c...	OMIM:619707
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Decreased mean corpuscular volume, Pallor, Hepatosplenomegaly, Anisopoikilocytosis, Dysplastic er...	ORPHA:300298
Immunodeficiency, Common Variable, 3	Decreased circulating IgA level, Decreased circulating total IgM, Reduced isohemagglutinin level,...	OMIM:613493
Anemia, Sideroblastic, 4	Sideroblastic anemia, Abnormal erythrocyte morphology	OMIM:182170
Imerslund-Gräsbeck Syndrome	Megaloblastic anemia, Neutropenia, Pallor, Anisopoikilocytosis, Macrocytic anemia, Thrombocytopen...	ORPHA:35858
Fetal Cytomegalovirus Syndrome	Anemia, Splenomegaly	ORPHA:294
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Decreased circulating antibody level	OMIM:616911
Immunodeficiency 11	Decreased circulating antibody level	OMIM:615206
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level	OMIM:619549
Immunodeficiency, Common Variable, 14	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:617765
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati...	OMIM:606843
Agammaglobulinemia 4, Autosomal Recessive	Agammaglobulinemia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased c...	OMIM:613502
Autoimmune Hemolytic Anemia, Cold Type	Pallor, Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly	ORPHA:228312
Woronets Trait	Red blood cell keratocytosis	OMIM:194320
Breath-Holding Spells	Pallor, Iron deficiency anemia	OMIM:607578
Hemoglobin-Delta locus	Anemia, Imbalanced hemoglobin synthesis	OMIM:142000
Acute Myelomonocytic Leukemia	Leukocytosis, Pallor, Eosinophilia, Anemia, Thrombocytopenia	ORPHA:517
Caspase 8 Deficiency	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:607271
Anemia, Sideroblastic, 1	Anemia of inadequate production, Anemic pallor, Hypochromic microcytic anemia, Macrocytic anemia,...	OMIM:300751
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti...	ORPHA:766
Hyperlysinemia, Type I	Anemia	OMIM:238700
Immunodeficiency 70	Decreased circulating total IgA, Decreased circulating total IgM, Decreased circulating total IgG...	OMIM:618969
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy...	ORPHA:67044
Immunodeficiency 44	Decreased circulating IgA level, Decreased circulating total IgM, Abnormal circulating IgG level	OMIM:616636
Anemia, Hypochromic Microcytic, With Iron Overload 1	Hypochromia, Decreased mean corpuscular volume, Anemia	OMIM:206100
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating IgG level, B Acute Lymphoblastic Leukemia,...	OMIM:619824
N Syndrome	Neoplasm, Leukemia, Abnormality of chromosome stability	OMIM:310465
Phosphoserine Phosphatase Deficiency	Postnatal growth retardation, Intrauterine growth retardation	OMIM:614023
Diamond-Blackfan Anemia 13	Normocytic anemia, Elevated red cell adenosine deaminase level	OMIM:615909
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:618987
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin	ORPHA:231249
Agammaglobulinemia 2, Autosomal Recessive	Agammaglobulinemia, Decreased circulating IgA level, Decreased circulating total IgM	OMIM:613500
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo...	OMIM:300835
Diamond-Blackfan Anemia 18	Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia	OMIM:618310
Transcobalamin Deficiency	Decreased circulating IgA level, Decreased circulating antibody level, Decreased circulating IgG ...	ORPHA:859
Retinitis Pigmentosa 42	Pallor	OMIM:612943
Tn Polyagglutination Syndrome	Abnormal erythrocyte morphology	OMIM:300622
Agammaglobulinemia 6, Autosomal Recessive	Agammaglobulinemia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased c...	OMIM:612692
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive	Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox...	OMIM:206000
Persistent Polyclonal B-Cell Lymphocytosis	Decreased circulating total IgM	OMIM:606445
Immune Deficiency, Familial Variable	Decreased circulating IgA level, Decreased circulating IgG level	OMIM:146830
Elliptocytosis 1	Pallor, Elliptocytosis, Hemolytic anemia, Splenomegaly	OMIM:611804
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Hypochromia, Decreased mean corpuscular volume, Anemia, Sideroblastic anemia	OMIM:205950
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive	Increased circulating interleukin 6 concentration, Decreased circulating total IgM, Decreased cir...	OMIM:618944
Developmental And Epileptic Encephalopathy 50	Anemia, Anisopoikilocytosis, Acanthocytosis, Schistocytosis	OMIM:616457
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites	Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis, Heinz body anemia	OMIM:141700
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Anemia of inadequate production, Petechiae, Congenital thrombocytopenia, Acanthocytosis, Poikiloc...	OMIM:300367
Anemia, Congenital Dyserythropoietic, Type Ia	Anemia of inadequate production, Mild postnatal growth retardation, Splenomegaly, Anisocytosis, S...	OMIM:224120
Severe Combined Immunodeficiency, X-Linked	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:300400
Immunodeficiency 105	Decreased circulating IgA level, B-cell lymphoma, Decreased circulating IgG level, Decreased circ...	OMIM:619924
Iron-Refractory Iron Deficiency Anemia	Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis	OMIM:206200
Retinitis Pigmentosa 81	Pallor	OMIM:617871
Scleroderma, Familial Progressive	Chromosome breakage, Abnormality of chromosome stability	OMIM:181750
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM	OMIM:610798
Congenital Dyserythropoietic Anemia Type Iii	Increased mean corpuscular volume, Short stature, Pallor, Anisocytosis, Poikilocytosis, Anemia, A...	ORPHA:98870
Hemoglobin E Disease	Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol...	ORPHA:2133
Nijmegen Breakage Syndrome-Like Disorder	Chromosomal breakage induced by ionizing radiation	OMIM:613078
Beta-Thalassemia Major	Anemia of inadequate production, Decreased mean corpuscular volume, Splenomegaly, Pallor, Extrame...	ORPHA:231214
Isobutyryl-Coa Dehydrogenase Deficiency	Anemia, Dilated cardiomyopathy	OMIM:611283
Immunodeficiency With Hyper-Igm, Type 5	Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig...	OMIM:608106
Pyropoikilocytosis, Hereditary	Hemolytic anemia, Pyropoikilocytosis, Elliptocytosis, Microspherocytosis	OMIM:266140
Agammaglobulinemia 5, Autosomal Dominant	Agammaglobulinemia	OMIM:613506
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level	OMIM:235550
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy	Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia, Multiple myeloma, Lymphoma	ORPHA:209004
Acquired Idiopathic Sideroblastic Anemia	Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Pallo...	ORPHA:75564
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Hypochromic anemia, Pallor, Pappenheimer bodies, Microcytic anemia, Delayed puberty, Sideroblasti...	OMIM:600462
Fanconi Anemia, Complementation Group D1	Chromosomal breakage induced by crosslinking agents, T-cell acute lymphoblastic leukemias, Acute ...	OMIM:605724
Lymphoproliferative Syndrome 3	Partial absence of specific antibody response to tetanus vaccine, Lymphoproliferative disorder, H...	OMIM:618261
Fetal Parvovirus Syndrome	Anemia, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Thrombocytopenia	ORPHA:295
3-Methylglutaconic Aciduria, Type Viia	Anemia, Anisopoikilocytosis, Neutropenia	OMIM:619835
Retinitis Pigmentosa 60	Pallor	OMIM:613983
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Chromosome 5Q Deletion Syndrome	Anemia of inadequate production, Refractory macrocytic anemia, Erythroid hypoplasia	OMIM:153550
Anemia, Congenital Dyserythropoietic, Type Iv	Circulating nucleated red blood cells, Anemia of inadequate production, Splenomegaly, Anemia, Ani...	OMIM:613673
Heinz Body Anemias	Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia	OMIM:140700
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Abnormal hemoglobin, Thrombocytopenia, Short stature	ORPHA:3319
Myeloma, Multiple	Multiple myeloma, Paraproteinemia	OMIM:254500
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Splenomegaly, Pallor, Anisocytosis, Heinz bodies, Poikilocytosis, Fava bean-induced...	OMIM:300908
Overhydrated Hereditary Stomatocytosis	Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co...	ORPHA:3203
Elliptocytosis 3	Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia	OMIM:617948
Pyruvate Kinase Deficiency Of Red Cells	Splenomegaly, Pallor, Decreased hemoglobin concentration, Chronic hemolytic anemia, Reticulocytos...	OMIM:266200
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM	OMIM:300861
Spherocytosis, Type 5	Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,...	OMIM:612690
Trimethylaminuria	Splenomegaly, Tachycardia, Neutropenia, Hypertension, Anemia	OMIM:602079
Immunodeficiency, Common Variable, 7	Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin...	OMIM:614699
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis	OMIM:619398
Solute carrier family 4 (anion exchanger), member 1	Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis, Stomatocytosis, Re...	OMIM:109270
Fanconi Anemia, Complementation Group G	Myelodysplasia, Leukemia, Abnormality of chromosome stability	OMIM:614082
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
X-Linked Sideroblastic Anemia	Pallor, Anemia, Splenomegaly	ORPHA:75563
Hereditary Elliptocytosis	Splenomegaly, Hemolytic anemia, Poikilocytosis, Congenital hemolytic anemia, Elliptocytosis, Stom...	ORPHA:288
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Immunodeficiency 15B	Agammaglobulinemia, Decreased circulating antibody level	OMIM:615592
Fanconi Anemia, Complementation Group J	Chromosomal breakage induced by crosslinking agents	OMIM:609054
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly	ORPHA:231393
Primary Myelofibrosis	Petechiae, Leukocytosis, Splenomegaly, Pallor, Extramedullary hematopoiesis, Hepatosplenomegaly, ...	ORPHA:824
Reticuloendotheliosis, X-Linked	Anemia, Hepatosplenomegaly	OMIM:312500
Retinitis Pigmentosa And Erythrocytic Microcytosis	Decreased mean corpuscular volume, Pallor, Anisocytosis, Poikilocytosis, Elliptocytosis, Anemia	OMIM:616959
Nephronophthisis	Anemia	ORPHA:655
Diamond-Blackfan Anemia 9	Growth delay, Anemia	OMIM:613308
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Anemia of inadequate production, Elliptocytosis	OMIM:166910
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly	ORPHA:231242
Diamond-Blackfan Anemia 16	Pulmonic stenosis, Anemia	OMIM:617408
Congenital Atransferrinemia	Anemia	ORPHA:1195
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia, Stomatocytosis	OMIM:301083
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Decreased circulating IgG level	OMIM:242870
Thanatophoric Dysplasia, Glasgow Variant	Anemia, Hepatosplenomegaly, Neonatal death	OMIM:273680
Cyanosis, Transient Neonatal	Methemoglobinemia, Reticulocytosis, Anemia	OMIM:613977
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Hyperbilirubinemia, Shunt, Primary	Anemia of inadequate production, Reticulocytosis, Erythroid hyperplasia, Splenomegaly	OMIM:237800
Immunodeficiency 14B, Autosomal Recessive	Reduced natural killer cell activity, Decreased circulating IgA level, Decreased circulating IgG ...	OMIM:619281
Radial-Renal Syndrome	Chromosome breakage	OMIM:179280
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Decreased circulating antibody level	OMIM:616873
Immunodeficiency, Common Variable, 1	Decreased circulating IgA level, Impaired T cell function, Decreased circulating total IgM, Decre...	OMIM:607594
Optic Atrophy 9	Pallor	OMIM:616289
Cryohydrocytosis	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly	OMIM:185020
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity	Abnormality of chromosome stability	OMIM:600546
Spherocytosis, Type 2	Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosis	OMIM:616649
Hydrops Fetalis, Nonimmune	Anemia, Congestive heart failure	OMIM:236750
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Partial absen...	OMIM:301082
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM	OMIM:611926
Agammaglobulinemia 7, Autosomal Recessive	Agammaglobulinemia	OMIM:615214
Bleeding Disorder, Platelet-Type, 19	Anemia, Epistaxis, Macrothrombocytopenia	OMIM:616176
Beta-Thalassemia, Dominant Inclusion Body Type	Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre...	OMIM:603902
Immunodeficiency, Common Variable, 5	Chronic decreased circulating total IgG	OMIM:613495
Hemoglobin H Disease	Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly	OMIM:613978
Spherocytosis, Type 3	Hemolytic anemia, Spherocytosis	OMIM:270970
Diamond-Blackfan Anemia 4	Short stature, Erythroid hypoplasia, Macrocytic anemia, Neutropenia, Growth delay, Reticulocytopenia	OMIM:612527
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig...	OMIM:605258
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Decreased mean corpuscular volume, Short stature, Pallor, Hepatosplenomegaly, Hemolytic anemia, R...	OMIM:611590
Acute Peripheral Arterial Occlusion	Pallor, Leukocytosis	ORPHA:90064
Beta-Thalassemia	Abnormal hemoglobin, Splenomegaly, Pallor, Microcytic anemia, Skin ulcer, Anemia, Thrombocytopenia	ORPHA:848
Eosinophilia, Familial	Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis	OMIM:131400
Immunodeficiency 54	Lymphoproliferative disorder, Chromosome breakage	OMIM:609981
Short Fifth Metacarpals-Insulin Resistance Syndrome	Short stature, Spherocytosis, Splenomegaly	ORPHA:66518
Refractory Anemia	Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Thro...	ORPHA:98826
Erythroleukemia, Familial, Susceptibility To	Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid hyperplasia	OMIM:133180
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM	OMIM:615139
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Hereditary Spherocytosis	Spherocytosis, Splenomegaly, Pallor, Extramedullary hematopoiesis, Spontaneous hemolytic crises, ...	ORPHA:822
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag	Monoclonal immunoglobulin M proteinemia	ORPHA:639
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Thiamine-Responsive Megaloblastic Anemia Syndrome	Pallor, Megaloblastic anemia, Thrombocytopenia, Short stature	ORPHA:49827
Short Stature With Microcephaly And Distinctive Facies	Anemia, Anisopoikilocytosis, Severe short stature	OMIM:615789
Dehydrated Hereditary Stomatocytosis	Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem...	ORPHA:3202
Ovalocytosis, Southeast Asian	Hemolytic anemia, Elliptocytosis	OMIM:166900
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level	ORPHA:2643
Immunodeficiency 61	Agammaglobulinemia, Colon cancer	OMIM:300310
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal reticulocyte morphology, Short stature	ORPHA:2522
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Elliptocytosis 2	Hemolytic anemia, Reticulocytosis, Elliptocytosis	OMIM:130600
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thrombocytopenia	OMIM:615285
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Arrhythmia, Thrombocytopenia, Patent ductus arteriosus, Hypertension, Sideroblastic anemia, Intra...	OMIM:617021
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pallor, Megaloblastic anemia, Thrombocytopenia, Pancytopenia	OMIM:613839
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Spherocytosis, Splenomegaly	OMIM:612653
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Pallor, Short stature	ORPHA:2786
Fanconi Anemia, Complementation Group S	Ovarian neoplasm, Chromosome breakage, Breast carcinoma	OMIM:617883
Cernunnos-Xlf Deficiency	Lymphopenia, B lymphocytopenia, T lymphocytopenia, Growth delay, Anemia, Thrombocytopenia	ORPHA:169079
Hb Bart'S Hydrops Fetalis	Pallor, Abnormal hemoglobin, Anemia, Splenomegaly	ORPHA:163596
Whim Syndrome 1	Decreased circulating antibody level, Verrucae, Decreased circulating IgG level	OMIM:193670
Acute Erythroid Leukemia	Pancytopenia, Leukopenia, Anemia, Erythroid hypoplasia	ORPHA:318
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgE, Decreased circulating IgA level, Decreased circulating IgG level, Decr...	OMIM:618394
Retinohepatoendocrinologic Syndrome	Pallor	OMIM:268040
Anemia, Sideroblastic, 5	Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia	OMIM:619523
Fanconi Anemia, Complementation Group N	Chromosomal breakage induced by crosslinking agents, Nephroblastoma, Medulloblastoma, Neuroblastoma	OMIM:610832
Lathosterolosis	Anisopoikilocytosis, Abnormal platelet morphology, Meningocele, Thrombocytopenia, Intrauterine gr...	ORPHA:46059
Fanconi Anemia, Complementation Group T	Anemia, Thrombocytopenia, Short stature, Pancytopenia	OMIM:616435
Hemophagocytic Lymphohistiocytosis, Familial, 3	Anemia, Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis	OMIM:608898
Familial Pseudohyperkalemia	Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis	ORPHA:90044
Rh Deficiency Syndrome	Hypochromia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Macrocytic anemia, Hemolytic anemia...	ORPHA:71275
Retinitis Pigmentosa 70	Pallor	OMIM:615922
Diamond-Blackfan Anemia 12	Elevated red cell adenosine deaminase level, Normochromic anemia, Reticulocytopenia, Macrocytic a...	OMIM:615550
Immune Deficiency Disease	Decreased circulating total IgM	OMIM:242850
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:251190
Immunodeficiency 50	Decreased circulating antibody level	OMIM:300988
Immunodeficiency 96	Defective T cell proliferation, Decreased circulating IgA level, Decreased circulating IgG level,...	OMIM:619774
Lathosterolosis	Myelomeningocele, Hepatosplenomegaly, Anisopoikilocytosis, Acanthocytosis, Schistocytosis, Increa...	OMIM:607330
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Petechiae, Splenomegaly, Hemolytic anemia, Increased mean platelet volume, Ecchymosis, Stomatocyt...	OMIM:153670
Leishmaniasis	Splenomegaly, Pallor, Leukopenia, Abnormal macrophage morphology, Pancytopenia, Skin ulcer, Anemi...	ORPHA:507
Bone Marrow Failure Syndrome 5	Anemia, Pure red cell aplasia, Short stature	OMIM:618165
Auditory Neuropathy And Optic Atrophy	Pallor	OMIM:617717
Spastic Ataxia-Corneal Dystrophy Syndrome	Decreased circulating antibody level	ORPHA:2572
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope...	OMIM:610629
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive	Squamous cell carcinoma, Decreased circulating total IgM, Increased circulating IgE level, Increa...	OMIM:243700
Glutamate-Cysteine Ligase Deficiency	Hemolytic anemia, Hepatosplenomegaly, Reticulocytosis	ORPHA:33574
Evans Syndrome	Petechiae, Neutropenia in presence of anti-neutropil antibodies, Pallor, Autoimmune thrombocytope...	ORPHA:1959
Megaloblastic Anemia, Folate-Responsive	Hypersegmentation of neutrophil nuclei, Folate-responsive megaloblastic anemia, Episodic hemolyti...	OMIM:601775
Fanconi Anemia, Complementation Group O	Chromosome breakage	OMIM:613390
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Spherocytosis, Splenomegaly	OMIM:182900
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level	OMIM:619705
Immunodeficiency, Common Variable, 2	Neoplasm, Decreased circulating IgA level, Decreased circulating IgG level, Partial absence of sp...	OMIM:240500
Anemia, Congenital Dyserythropoietic, Type Ii	Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Bone Marrow Failure Syndrome 2	Anemia, Leukopenia, Thrombocytopenia	OMIM:615715
Thrombocytopenia With Beta-Thalassemia, X-Linked	Splenomegaly, Hemolytic anemia, Reticulocytosis, Thrombocytopenia, Epistaxis	OMIM:314050
Diamond-Blackfan Anemia 5	Short stature, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia	OMIM:612528
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgE, Decreased circulating IgA level, Decreased circulating IgG level, Decr...	OMIM:619510
Red Cell Phospholipid Defect With Hemolysis	Reticulocytosis, Splenomegaly	OMIM:179700
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ...	OMIM:202700
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Splenomegaly, Pallor, Increased red cell hemolysis by shear stress, Increased mean corpuscular he...	OMIM:194380
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
Autoinflammatory Disease, Systemic, X-Linked	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:301081
Gaisböck Syndrome	Angina pectoris, Increased hematocrit, Hypovolemia, Elevated plasma cell count, Increased mean co...	ORPHA:90041
Dyskeratosis Congenita, Digenic	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:620040
Alpha-Thalassemia	Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism	ORPHA:846
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly	OMIM:185000
Dermatitis, Atopic	Pallor, Dry skin, Facial erythema	OMIM:603165
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level	OMIM:233650
Mitochondrial Complex Iv Deficiency, Nuclear Type 16	Chromosomal breakage induced by crosslinking agents	OMIM:619060
Orotic Aciduria	Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Poikilocytosis, Pyrimidine-r...	OMIM:258900
Retinitis Pigmentosa 73	Pallor	OMIM:616544
Thrombocytopenia 5	Anemia, Thrombocytopenia, Epistaxis, Neutropenia	OMIM:616216
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death	Leukemia, Chromosome breakage, Abnormality of chromosome stability	OMIM:208910
Optic Atrophy 1	Pallor	OMIM:165500
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye...	OMIM:619041
Autoimmune Hemolytic Anemia	Pallor, Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly	ORPHA:98375
Fanconi Anemia, Complementation Group V	Chromosomal breakage induced by crosslinking agents	OMIM:617243
Fragile X Syndrome	Folate-dependent fragile site at Xq28	OMIM:300624
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia	OMIM:616941
Rh-Null, Regulator Type	Hemolytic anemia, Stomatocytosis	OMIM:268150
Myelofibrosis	Pallor, Myeloproliferative disorder, Purpura, Splenomegaly	OMIM:254450
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:619752
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia	OMIM:200900
Retinitis Pigmentosa 27	Pallor	OMIM:613750
Bleeding Disorder, Platelet-Type, 16	Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Anemia, Thrombocytopenia	OMIM:187800
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased specific anti-polysaccharide antibody level, Decreased specific antibody response to pr...	ORPHA:70593
Sickle Cell Anemia	Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,...	ORPHA:232
Immunodeficiency 69	Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia	OMIM:618963
Ichthyosis, Congenital, Autosomal Recessive 5	White scaling skin, Acanthocytosis	OMIM:604777
Focal Segmental Glomerulosclerosis 1	Hypertension, Anemia	OMIM:603278
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating antibody level, Decreased circulating IgA level, Decreased circulating IgG ...	OMIM:616100
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Facial papilloma, Increased circulating IgM level, Increased circulating IgG level	OMIM:619220
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Reticulocytosis, Splenomegaly	OMIM:612126
Red Cell Permeability Defect	Elliptocytosis	OMIM:179650
Thrombotic Thrombocytopenic Purpura	Arrhythmia, Myocardial infarction, Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocyt...	ORPHA:54057
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Splenomegaly, Short stature, Bone-marrow foam cells, Anemia, Thrombocytop...	OMIM:607616
Immunodeficiency 14A, Autosomal Dominant	Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Increased circu...	OMIM:615513
Agammaglobulinemia 3, Autosomal Recessive	Agammaglobulinemia	OMIM:613501
Cold Agglutinin Disease	Pallor, Hemolytic anemia, Splenomegaly	ORPHA:56425
Immunodeficiency 25	Increased circulating IgA level, Complete or near-complete absence of specific antibody response ...	OMIM:610163
Nut Midline Carcinoma	Ewing sarcoma, Neoplasm, Neuroblastoma, Oropharyngeal squamous cell carcinoma, Pancreatic squamou...	ORPHA:443167
Diamond-Blackfan Anemia 20	Anemia, Erythroid hypoplasia	OMIM:618313
Fragile X Syndrome	Folate-dependent fragile site at Xq28	ORPHA:908
Drug-Induced Autoimmune Hemolytic Anemia	Pallor, Autoimmune hemolytic anemia, Splenomegaly	ORPHA:90037
Hypocalcemia, Autosomal Dominant 2	Postnatal growth retardation	OMIM:615361
Malaria	Anemia, Thrombocytopenia	ORPHA:673
Fanconi Anemia, Complementation Group Q	Chromosome breakage	OMIM:615272
Immunodeficiency 64	Decreased lymphocyte proliferation in response to mitogen, B-cell lymphoma, Increased circulating...	OMIM:618534
Immunodeficiency 95	Decreased circulating IgG3 level, Increased circulating IgG3 level	OMIM:619773
Ataxia-Pancytopenia Syndrome	Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Neutropenia, Anemia, Thrombocyto...	OMIM:159550
Idiopathic Aplastic Anemia	Retinal hemorrhage, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Epistaxis, Reticulocytop...	ORPHA:88
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, B-cell lymphoma, Hodgkin lymphoma, Lymphop...	OMIM:300853
Formiminoglutamic Aciduria	Megaloblastic anemia, Anemia	ORPHA:51208
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Orthostatic Hypotension 2	Orthostatic hypotension, Anemia	OMIM:618182
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Growth delay, Anemia, Thrombocytopenia	OMIM:611490
Colchicine Poisoning	Leukocytosis, Hypovolemia, Arrhythmia, Cardiogenic shock, Hypotension, Myocarditis, Congestive he...	ORPHA:31824
Stormorken-Sjaastad-Langslet Syndrome	Anemia, Asplenia, Short stature	ORPHA:3204
Immunoglobulin A Deficiency 2	Decreased circulating IgA level	OMIM:609529
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Hemochromatosis, Type 2B	Anemia, Splenomegaly, Cardiomyopathy, Congestive heart failure	OMIM:613313
Acute Adrenal Insufficiency	Orthostatic hypotension, Hypovolemia, Normocytic anemia, Hypotension, Myocardial infarction, Dela...	ORPHA:95409
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating IgA level, Decreased circulating total IgM	OMIM:614878
Intermediate Generalized Junctional Epidermolysis Bullosa	Growth delay, Anemia	ORPHA:79402
Primary Lateral Sclerosis, Juvenile	Pallor	OMIM:606353
Ataxia-Pancytopenia Syndrome	Decreased circulating antibody level, Abnormal platelet function, Acute myelomonocytic leukemia	ORPHA:2585
Immunodeficiency, Common Variable, 10	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM	OMIM:615577
Letterer-Siwe Disease	Pallor, Hepatosplenomegaly, Neutropenia, Anemia, Thrombocytopenia	OMIM:246400
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Decre...	ORPHA:331206
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Anemia, Short stature, Intrauterine growth retardation, Neutropenia	OMIM:617056
Phosphoglycerate Kinase 1 Deficiency	Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia	OMIM:300653
Autoimmune Lymphoproliferative Syndrome	Non-Hodgkin lymphoma, Basal cell carcinoma, T-cell lymphoma, Bone marrow hypocellularity, Neoplas...	ORPHA:3261
Aregenerative Anemia	Abnormal proportion of CD8-positive T cells, Neutropenia, Pallor, Erythroid hypoplasia, Decreased...	ORPHA:101096
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Nonspherocytic hemolytic anemia, Splenomegaly, Normocytic anemia, Reticulocytosis, Normochromic a...	OMIM:235700
Sneddon Syndrome	Decreased circulating total IgM	OMIM:182410
Bloom Syndrome	Neoplasm of the colon, Esophageal neoplasm, Malignant genitourinary tract tumor, Neoplasm, Decrea...	ORPHA:125
Transcobalamin Ii Deficiency	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM	OMIM:275350
Beta-Thalassemia Intermedia	Anemia of inadequate production, Decreased mean corpuscular volume, Leukocytosis, Splenomegaly, P...	ORPHA:231222
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating antibody level	OMIM:614069
Bone Marrow Failure Syndrome 4	Short stature, Leukopenia, Rhizomelia, Anemia, Thrombocytopenia	OMIM:618116
Attrv122I Amyloidosis	Angina pectoris, Atrial arrhythmia, Aortic valve stenosis, Restrictive cardiomyopathy, Arrhythmia...	ORPHA:85451
Lymphoproliferative Syndrome, X-Linked, 1	Burkitt lymphoma, Decreased circulating IgG level, Lymphoma, Reduced natural killer cell activity...	OMIM:308240
Dominant Beta-Thalassemia	Decreased mean corpuscular volume, Splenomegaly, Pallor, Anisocytosis, Extramedullary hematopoies...	ORPHA:231226
Glycogen Storage Disease Vii	Hemolytic anemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Reticulocytosis	OMIM:232800
Primary Intestinal Lymphangiectasia	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	ORPHA:90362
Myoclonus, Intractable, Neonatal	Pallor	OMIM:617235
Immunodeficiency 46	Anemia, Intermittent thrombocytopenia, Neutropenia	OMIM:616740
Fanconi Anemia, Complementation Group U	Chromosome breakage	OMIM:617247
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic anemia, Macrocytic dyserythropoietic anemia	OMIM:619789
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration	Acanthocytosis	OMIM:607236
Deafness-Lymphedema-Leukemia Syndrome	Leukocytosis, Splenomegaly, Pallor, Myeloproliferative disorder, Abnormal neutrophil count, Throm...	ORPHA:3226
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia	OMIM:603552
Optic Atrophy 7 With Or Without Auditory Neuropathy	Pallor	OMIM:612989
Lysosomal Acid Lipase Deficiency	Vacuolated lymphocytes, Hypovolemia, Hepatosplenomegaly, Hypotension, Bone-marrow foam cells, Ane...	ORPHA:275761
Growth Hormone Deficiency, Isolated Partial	Postnatal growth retardation, Short stature	OMIM:615925
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Anemia	ORPHA:371
Alpha-Heavy Chain Disease	Growth delay, Anemia, Splenomegaly	ORPHA:100025
Rosaï-Dorfman Disease	Anemia	ORPHA:158014
Cyclic Vomiting Syndrome	Pallor, Growth delay	OMIM:500007
Immunoglobulin A Deficiency 1	Decreased circulating IgA level	OMIM:137100
Mu-Heavy Chain Disease	Anemia, Abnormal B cell count, Splenomegaly	ORPHA:100024
Sitosterolemia 1	Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Chronic hemolytic anemia, Giant platele...	OMIM:210250
Immunodeficiency, Common Variable, 8, With Autoimmunity	Decreased circulating IgA level, Decreased circulating IgG level, Lymphoproliferative disorder, D...	OMIM:614700
Combined Oxidative Phosphorylation Deficiency 42	Neonatal death, Anemia, Intrauterine growth retardation, Cardiomyopathy	OMIM:618839
Combined Oxidative Phosphorylation Deficiency 40	Anemia, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Neonatal death	OMIM:618835
Hereditary Folate Malabsorption	Megaloblastic anemia, Pallor, Eosinophilia, Pancytopenia, Thrombocytopenia	ORPHA:90045
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hypochromia, Decreased mean corpuscular volume, Splenomegaly, Anisocytosis, Hepatosplenomegaly, A...	OMIM:616860
Dohle Bodies And Leukemia	Leukocyte inclusion bodies, Anemia, Acute myeloid leukemia	OMIM:223350
Diffuse Neonatal Hemangiomatosis	Anemia, Thrombocytopenia, Patent ductus arteriosus	ORPHA:2123
Plummer-Vinson Syndrome	Pallor, Hypochromic microcytic anemia, Iron deficiency anemia	ORPHA:54028
Mixed-Type Autoimmune Hemolytic Anemia	Pallor, Autoimmune hemolytic anemia	ORPHA:90036
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Marburg Hemorrhagic Fever	Lymphopenia, Hypovolemia, Leukopenia, Tachycardia, Reticulocytosis, Hypotension, Abnormal lymphoc...	ORPHA:99826
Abetalipoproteinemia	Acanthocytosis	OMIM:200100
Agammaglobulinemia, X-Linked	Decreased circulating IgA level, Decreased circulating IgG level, Complete or near-complete absen...	OMIM:300755
Osteopetrosis, Autosomal Recessive 8	Anemia, Thrombocytopenia, Splenomegaly	OMIM:615085
Autoimmune Hemolytic Anemia, Warm Type	Pallor, Chronic lymphatic leukemia, Autoimmune hemolytic anemia, Splenomegaly	ORPHA:90033
Combined Oxidative Phosphorylation Deficiency 41	Anemia, Intrauterine growth retardation	OMIM:618838
Congenital Rubella Syndrome	Short stature, Splenomegaly, Patent ductus arteriosus, Anemia, Thrombocytopenia, Intrauterine gro...	ORPHA:290
Thymoma	Neoplasm, Abnormal lymphocyte physiology, Neoplasm of the lung, Non-Hodgkin lymphoma, Neoplasm of...	ORPHA:99867
Refractory Anemia With Excess Blasts	Anemia of inadequate production, Leukocytosis, Anemic pallor, Abnormal mean corpuscular volume, T...	ORPHA:86839
Hemochromatosis, Type 4	Anemia, Arrhythmia, Cardiomyopathy	OMIM:606069
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	Pallor	OMIM:608423
Immunodeficiency 97 With Autoinflammation	Decreased circulating antibody level, Decreased circulating IgA level, Decreased circulating IgG ...	OMIM:619802
Hemochromatosis, Type 3	Anemia, Lymphopenia, Cardiomyopathy, Neutropenia	OMIM:604250
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgA level...	OMIM:308230
Harderoporphyria	Hemolytic anemia, Reticulocytosis, Splenomegaly	OMIM:618892
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Anemia, Growth delay, Anemic pallor	ORPHA:329971
Lesch-Nyhan Syndrome	Anemia	ORPHA:510
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	B-cell lymphoma, Decreased circulating IgA level, Absent specific antibody response, Decreased ci...	OMIM:102700
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Pallor	ORPHA:276608
Bloom Syndrome	Chromosome breakage, Lymphoma, Squamous cell carcinoma, Leukemia, Abnormality of chromosome stabi...	OMIM:210900
Senior-Loken Syndrome 4	Anemia	OMIM:606996
Arthrogryposis Multiplex Congenita 5	Normocytic anemia, Acanthocytosis, Poikilocytosis, Umbilical hernia, Premature skin wrinkling, Gr...	OMIM:618947
Familial Hypoaldosteronism	Orthostatic hypotension, Hypovolemia, Growth delay, Hypotension	ORPHA:427
Systemic Mastocytosis With Associated Hematologic Neoplasm	Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Pallor, Myeloproliferati...	ORPHA:98849
Ataxia-Telangiectasia	Neoplasm, Abnormality of chromosome stability	ORPHA:100
Immunodeficiency 48	Panhypogammaglobulinemia	OMIM:269840
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:613101
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Schistocytosis, Purpura, Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia	OMIM:235400
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Increased circulating IgE level, Reduced delayed hypersensitivity, Increased circulating IgM leve...	OMIM:617241
Combined Immunodeficiency, X-Linked	Decreased circulating IgG level	OMIM:312863
Cocaine Intoxication	Supraventricular arrhythmia, Prolonged QRS complex, Cerebral hemorrhage, Diffuse alveolar hemorrh...	ORPHA:90068
Amed Syndrome, Digenic	Short stature, Leukopenia, Anemia, Thrombocytopenia, Acute myeloid leukemia	OMIM:619151
Autoinflammation With Infantile Enterocolitis	Splenomegaly, Short stature, Thrombocytopenia, Pancytopenia, Anemia, Diffuse alveolar hemorrhage,...	OMIM:616050
Transaldolase Deficiency	Anemia, Telangiectasia, Thrombocytopenia, Hepatosplenomegaly	ORPHA:101028
Leukocyte Adhesion Deficiency, Type Iii	Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Epistaxis	OMIM:612840
Stormorken Syndrome	Short stature, Anemia, Thrombocytopenia, Epistaxis, Asplenia, Howell-Jolly bodies	OMIM:185070
Neonatal Lupus Erythematosus	Neutropenia, Splenomegaly, Arrhythmia, Aplastic anemia, Hemolytic anemia, Abnormal electrophysiol...	ORPHA:398124
Nephrogenic Diabetes Insipidus	Hypovolemia, Growth delay, Short stature	ORPHA:223
Vitamin B12-Responsive Methylmalonic Acidemia	Anemia	ORPHA:28
Spontaneous Periodic Hypothermia	Pallor	ORPHA:29822
Immunodeficiency, Common Variable, 11	Increased circulating IgE level, Decreased circulating IgG level	OMIM:615767
Fanconi Anemia, Complementation Group I	Chromosomal breakage induced by crosslinking agents	OMIM:609053
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Splenomegaly, Hypochromic microcytic anemia, Schistocytosis, B lymphocytopenia, Growth delay, Sid...	OMIM:616084
Immunodeficiency 36	Decreased circulating IgA level, B-cell lymphoma, Decreased circulating IgG level, Chronic lympha...	OMIM:616005
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Agammaglobulinemia, Decreased circulating antibody level	OMIM:616910
Immunodeficiency 37	Decreased circulating antibody level	OMIM:616098
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia	OMIM:616738
Familial Benign Copper Deficiency	Anemia, Short stature	ORPHA:1551
Peripartum Cardiomyopathy	Left bundle branch block, Abnormal T-wave, Anemia, Mitral regurgitation, Right ventricular failur...	ORPHA:563
Bone Marrow Failure Syndrome 6	Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia	OMIM:618849
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Abnormal left ventricular function, Hypovolemia, Subarachnoid hemorrhage, Aortic regurgitation, P...	ORPHA:91387
Oslam Syndrome	Anemia	OMIM:165660
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Pallor, Anemia	OMIM:246450
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Hemolytic anemia, Decreased hemoglobin concentration, Reticulocytosis	ORPHA:713
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased mean corpuscular volume, Leukocytosis, Anisocytosis, Hepatosplenomegaly, Hemolytic anem...	OMIM:618278
Amme Complex	Elliptocytosis, Intrauterine growth retardation, Umbilical hernia	OMIM:300194
Combined Immunodeficiency With Faciooculoskeletal Anomalies	Decreased lymphocyte proliferation in response to anti-CD3, Decreased lymphocyte proliferation in...	ORPHA:221139
Ectodermal Dysplasia And Immunodeficiency 1	Increased circulating IgA level, Abnormal circulating IgG level, Reduced natural killer cell acti...	OMIM:300291
Riddle Syndrome	Decreased circulating IgG level	OMIM:611943
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased circulating IgA level, Decreased circulating antibody level	OMIM:617744
Vitamin B12-Unresponsive Methylmalonic Acidemia	Leukopenia, Macrocytic anemia, Anemia, Thrombocytopenia, Cardiomyopathy	ORPHA:27
Lymphoproliferative Syndrome 2	Decreased lymphocyte proliferation in response to mitogen, Hodgkin lymphoma, Lymphoproliferative ...	OMIM:615122
Immunoneurologic Disorder, X-Linked	Decreased circulating IgG2 level	OMIM:300076
Retinitis Pigmentosa 51	Pallor	OMIM:613464
Neuronal Intestinal Pseudoobstruction	Decreased circulating antibody level	ORPHA:99811
Immunodeficiency, Common Variable, 6	Decreased specific pneumococcal antibody level, Complete or near-complete absence of specific ant...	OMIM:613496
Diamond-Blackfan Anemia 11	Anemia of inadequate production, Anemia, Short stature, Neutropenia	OMIM:614900
X-Linked Lymphoproliferative Disease	B-cell lymphoma, Burkitt lymphoma, Decreased circulating IgA level, Decreased circulating IgG lev...	ORPHA:2442
Idiopathic Pulmonary Hemosiderosis	Pallor, Hepatosplenomegaly, Iron deficiency anemia	ORPHA:99931
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Decreased cir...	ORPHA:35078
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Decreased circulating antibody level	OMIM:619846
Diamond-Blackfan Anemia 10	Steroid-responsive anemia, Short stature, Macrocytic anemia, Patent ductus arteriosus, Growth del...	OMIM:613309
Hyperinsulinism Due To Ucp2 Deficiency	Pallor	ORPHA:276556
Selective Igm Deficiency	Multiple myeloma, Thyroid carcinoma, Stomach cancer, Decreased circulating total IgM, Non-Hodgkin...	ORPHA:331235
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Anemia	ORPHA:2668
Maternal Uniparental Disomy Of Chromosome 4	Postnatal growth retardation, Short stature, Acanthocytosis, Abnormal erythrocyte morphology	ORPHA:96180
Schnitzler Syndrome	Increased circulating IgM level, Lymphoma	ORPHA:37748
Chylomicron Retention Disease	Growth delay, Acanthocytosis	ORPHA:71
Gaucher Disease, Type I	Aortic valve stenosis, Splenomegaly, Mitral regurgitation, Thrombocytopenia, Pancytopenia, Hypert...	OMIM:230800
Sickle Cell Anemia	Leukocytosis, Splenomegaly, Hemolytic anemia, Target cells, Increased red cell sickling tendency	OMIM:603903
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia	Transient hypogammaglobulinemia of infancy	OMIM:251240
Thrombotic Thrombocytopenic Purpura, Hereditary	Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Schistocytosis	OMIM:274150
Microvillus Inclusion Disease	Hypovolemia	ORPHA:2290
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Decreased specific pneumococcal antibody level	OMIM:617006
Blackfan-Diamond Anemia	Increased mean corpuscular volume, Neutropenia, Short stature, Pallor, Persistence of hemoglobin ...	ORPHA:124
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Pallor	ORPHA:276575
Hereditary Cryohydrocytosis With Reduced Stomatin	Short stature, Hepatosplenomegaly, Spontaneous hemolytic crises, Stomatocytosis, Postnatal growth...	ORPHA:168577
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anemia, Hypertension, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:612922
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Decreased circulating IgA level, Decreased circulating IgG level, Decreased specific pneumococcal...	ORPHA:183675
Mogs-Cdg	Decreased circulating antibody level, Decreased circulating IgA level, Decreased circulating IgG ...	ORPHA:79330
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Anemia	OMIM:613092
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Pallor	ORPHA:276580
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6	Bone marrow hypocellularity, Myelodysplasia, Decreased circulating antibody level	OMIM:619767
Secondary Intestinal Lymphangiectasia	Decreased circulating IgA level, B-cell lymphoma, Decreased circulating total IgM, Lymphoma, Decr...	ORPHA:90363
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anemia, Hypertension, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anemia, Hypertension, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anemia, Hypertension, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:612926
Myotonic Dystrophy 2	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:602668
Hyperinsulinism Due To Hnf1A Deficiency	Pallor	ORPHA:324575
Osteopetrosis, Autosomal Dominant 3	Anemia, Splenomegaly	OMIM:618107
Hydatidiform Mole	Anemia	ORPHA:99927
Pearson Marrow-Pancreas Syndrome	Hypoplastic anemia, Neutropenia, Sideroblastic anemia, Pallor, Refractory sideroblastic anemia, E...	OMIM:557000
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgA level, Increased circulating IgG level, Decreased lymphocyte apoptosis,...	OMIM:601859
Arteriosclerosis, Severe Juvenile	Short stature, Myocardial infarction, Delayed puberty, Hypertension, Anemia	OMIM:208060
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Decreased circulating antibody level	ORPHA:85317
Epilepsy-Telangiectasia Syndrome	Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
Ovarian Hyperstimulation Syndrome	Hypovolemia, Capillary leak	ORPHA:64739
Irida Syndrome	Pallor	ORPHA:209981
Fanconi Anemia, Complementation Group E	Neutropenia, Short stature, Anemic pallor, Thrombocytopenia, Pancytopenia, Anemia, Leukemia, Reti...	OMIM:600901
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgA level, Decreased circulating antibody level, Decreased circulating IgG ...	OMIM:617062
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Decre...	ORPHA:508533
Wolman Disease	Growth delay, Anemia, Bone-marrow foam cells, Splenomegaly	ORPHA:75233
Immunodeficiency 47	Decreased circulating total IgA, Decreased circulating total IgM, Chronic decreased circulating t...	OMIM:300972
Fanconi Anemia, Complementation Group L	Chromosomal breakage induced by crosslinking agents, Chromosome breakage	OMIM:614083
Transaldolase Deficiency	Telangiectasia, Splenomegaly, Hepatosplenomegaly, Patent ductus arteriosus, Pancytopenia, Anemia,...	OMIM:606003
Pseudo-Torch Syndrome 3	Cerebral hemorrhage, Leukocytosis, Congenital thrombocytopenia, Hypertension, Anemia	OMIM:618886
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anemia, Hypertension, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:612925
Hypobetalipoproteinemia, Familial, 1	Acanthocytosis	OMIM:615558
Congenital Factor Ii Deficiency	Joint hemorrhage, Intracranial hemorrhage, Anemia, Epistaxis	ORPHA:325
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Lymphopenia, Tricuspid regurgitation, Short stature, Leukopenia, B lymphocytopenia, Rhizomelic ar...	ORPHA:508542
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Omenn Syndrome	Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B lymphocytopenia...	OMIM:603554
Copper Deficiency, Familial Benign	Anemia	OMIM:121270
Wiskott-Aldrich Syndrome, Autosomal Dominant	Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Abnormal ...	OMIM:600903
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Anemia, Hemophagocytosis, Splenomegaly	OMIM:618398
Myopathic Ehlers-Danlos Syndrome	Pallor	ORPHA:536516
Solitary Rectal Ulcer Syndrome	Anemia, Hematochezia	ORPHA:209964
Sepsis In Premature Infants	Petechiae, Leukocytosis, Splenomegaly, Pallor, Purpura, Neutropenia, Anemia, Thrombocytopenia	ORPHA:90051
Fanconi Anemia, Complementation Group A	Neutropenia, Short stature, Anemic pallor, Thrombocytopenia, Pancytopenia, Anemia, Leukemia, Reti...	OMIM:227650
Fanconi Anemia, Complementation Group C	Neutropenia, Short stature, Anemic pallor, Thrombocytopenia, Pancytopenia, Anemia, Leukemia, Intr...	OMIM:227645
Kenny-Caffey Syndrome, Type 1	Proportionate short stature, Anemia, Birth length less than 3rd percentile, Intrauterine growth r...	OMIM:244460
Lambert Syndrome	Decreased circulating antibody level	ORPHA:1296
Osteopetrosis, Autosomal Recessive 7	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM	OMIM:612301
Severe Hemophilia A	Joint hemorrhage, Subdural hemorrhage, Intracranial hemorrhage, Epidural hemorrhage, Gastrointest...	ORPHA:169802
Congenital Disorder Of Glycosylation, Type Iir	Decreased circulating antibody level	OMIM:301045
Fabry Disease	Angina pectoris, Anemia, Arrhythmia, Myocardial infarction, Delayed puberty, Hypertension, Transi...	OMIM:301500
Lymphoproliferative Syndrome 1	B-cell lymphoma, Hodgkin lymphoma, Decreased circulating IgG level, Lymphoproliferative disorder,...	OMIM:613011
Immunodeficiency 55	Neutropenia, Lymphopenia, Short stature, Dry skin, Absent natural killer cells, Postnatal growth ...	OMIM:617827
Choreoacanthocytosis	Acanthocytosis	OMIM:200150
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Anemia of inadequate production, Anemia, Splenomegaly	OMIM:612714
8P11.2 Deletion Syndrome	Spherocytosis, Short stature, Splenomegaly, Hemolytic anemia, Growth delay	ORPHA:251066
Neutrophilic Dermatosis, Acute Febrile	Anemia, Dilated cardiomyopathy, Small vessel vasculitis	OMIM:608068
Isolated Permanent Neonatal Diabetes Mellitus	Hypovolemia, Intrauterine growth retardation	ORPHA:99885
Kcnq2-Related Epileptic Encephalopathy	Facial erythema, Pallor	ORPHA:439218
Lig4 Syndrome	Acute leukemia, Abnormality of chromosome stability, Lymphoma	ORPHA:99812
Fumarase Deficiency	Pallor, Polycythemia	OMIM:606812
Thymic Tumor	Neuroendocrine neoplasm, Neoplasm of the thymus, Dysgammaglobulinemia	ORPHA:100100
Wiskott-Aldrich Syndrome	Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Abnormal ...	OMIM:301000
Proteasome-Associated Autoinflammatory Syndrome 2	Abnormal circulating IgM level, Increased circulating IgA level, Increased circulating IgG level	OMIM:618048
Dravet Syndrome	Pallor	ORPHA:33069
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Short stature, Anemia, Thrombocytopenia, Intrauterine growth retar...	ORPHA:3322
Nephronophthisis 1	Hypertension, Anemia, Growth delay	OMIM:256100
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Anemia	ORPHA:3405
Waldenström Macroglobulinemia	Splenomegaly, Pallor, Normocytic anemia, Abnormality of neutrophils, Purpura, Leukemia	ORPHA:33226
American Trypanosomiasis	Pallor, Splenomegaly	ORPHA:3386
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Panhypogammaglobulinemia	OMIM:601457
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Fibroma, Decreased circulating antibody level	OMIM:619750
Non-Functioning Paraganglioma	Pallor	ORPHA:94080
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Decre...	ORPHA:276
Fanconi Anemia, Complementation Group F	Chromosomal breakage induced by crosslinking agents	OMIM:603467
Icf Syndrome	Lymphopenia, Short stature, Abnormality of neutrophils, Umbilical hernia, Anemia	ORPHA:2268
Immunodeficiency 52	Decreased circulating antibody level	OMIM:617514
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Delayed puberty, Hypovolemia, Hypotension	ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Delayed puberty, Hypovolemia, Hypotension	ORPHA:289548
Immunodeficiency 57 With Autoinflammation	Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ...	OMIM:618108
Cowden Syndrome 1	Breast carcinoma, Fibroadenoma of the breast, Hamartomatous polyposis, Decreased circulating anti...	OMIM:158350
Nephronophthisis 4	Growth delay, Anemia	OMIM:606966
Mcleod Syndrome	Acanthocytosis, Splenomegaly	OMIM:300842
Diamond-Blackfan Anemia 1	Congenital hypoplastic anemia, Pallor, Short stature, Thrombocytosis, Neutropenia, Thrombocytopen...	OMIM:105650
Gamma-Heavy Chain Disease	Splenomegaly, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Autoimmune hemolytic a...	ORPHA:100026
Simple Cryoglobulinemia	B-cell lymphoma, Multiple myeloma, Complement deficiency, Monoclonal elevation of circulating IgA...	ORPHA:91139
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased circulating IgA level, Verrucae, Decreased circulating IgG level	ORPHA:275
Alopecia Antibody Deficiency	Decreased circulating antibody level	ORPHA:1006
Meningioma	Spinal meningioma, Chromosomal breakage induced by ionizing radiation, Neurofibromas, Intracrania...	ORPHA:2495
Lymphoproliferative Syndrome, X-Linked, 2	Decreased circulating antibody level	OMIM:300635
Reticular Dysgenesis	Decreased circulating antibody level	ORPHA:33355
Fanconi Anemia, Complementation Group D2	Chromosomal breakage induced by crosslinking agents, Leukemia	OMIM:227646
Riddle Syndrome	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM	ORPHA:420741
Lymphangiectasia, Intestinal	Decreased circulating IgG level	OMIM:152800
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta

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