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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by 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.

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Lymphoma, Leukemia OMIM:153600
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Lymphoproliferative disorder OMIM:242880
Diamond-Blackfan Anemia-Like
Pure red cell aplasia, Steroid-responsive anemia OMIM:617911
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM, Hodgkin lymphoma 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
Pallor, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia, Anemia of inadequate production, Reticulocytosis, Poikilocytosis, Growth delay, Anisocyto... OMIM:615631
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscu... 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
Defective T cell proliferation, Partial absence of specific antibody response to tetanus vaccine,... OMIM:615897
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ... OMIM:613494
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis 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 circulating IgA level, Decreased specific antibody res... OMIM:616452
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly OMIM:617441
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency 61
Decreased circulating IgG4 level, Decreased circulating total IgM, Decreased circulating IgG2 level OMIM:300310
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Anemia, Reticulocytopenia, Growth delay, Dysplastic erythropoesis, Hepatospl... ORPHA:300298
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c... ORPHA:35858
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Agammaglobulinemia, Decreased circulating total IgM, Decreased c... OMIM:619707
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve... OMIM:606843
Caspase 8 Deficiency
Reduced CD95-induced lymphocyte apoptosis, Complete or near-complete absence of specific antibody... OMIM:607271
Immunodeficiency, Common Variable, 14
Decreased specific antibody response to vaccination, Decreased circulating IgG level, Decreased c... OMIM:617765
Immunodeficiency 86
Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst OMIM:619549
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Agammaglobulinemia, Decreased circulating total IgM, Decreased c... OMIM:613502
Anemia, Hypochromic Microcytic, With Iron Overload 2
Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Growth delay, Splenomegaly, Decreased ... OMIM:615234
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Breath-Holding Spells
Pallor, Iron deficiency anemia OMIM:607578
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Acute Myelomonocytic Leukemia
Anemia, Leukocytosis, Thrombocytopenia, Eosinophilia, Pallor ORPHA:517
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Immunodeficiency, Common Variable, 3
Chronic decreased circulating total IgG, Decreased circulating total IgM, Decreased circulating I... OMIM:613493
Anemia, Sideroblastic, 1
Hypochromic microcytic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production,... OMIM:300751
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Anemia, Reticulocytosis, Hepatosplenomegaly, Splenomegaly,... ORPHA:846
N Syndrome
Abnormality of chromosome stability, Leukemia, Neoplasm OMIM:310465
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level OMIM:616636
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic... ORPHA:67044
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level OMIM:616911
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Immunodeficiency, Common Variable, 2
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Lymphoma, Imp... OMIM:240500
Immunodeficiency 70
Decreased circulating total IgG, Decreased circulating antibody level, Verrucae, Decreased circul... OMIM:618969
Transcobalamin Deficiency
Decreased circulating IgG level, Decreased circulating antibody level, Decreased circulating IgA ... ORPHA:859
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia OMIM:618310
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgE, Partial absence of specific antibody response to tetanus vaccine, Decr... OMIM:619824
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
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, Complete or near-complete absence of specific antibody re... OMIM:605258
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgE, Decreased circulating IgG level, Decreased circulating total IgM, Agam... OMIM:300400
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating total IgM, Agammaglobulinemia, Decreased circulating IgA level OMIM:613500
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Hypochromia, Anemia, Decreased mean corpuscular volume OMIM:205950
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM OMIM:606445
Immunodeficiency 62
Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir... OMIM:618459
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, Reticulocytosis... OMIM:224120
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Petechiae, Anemia of inadequate production, Poikilocytosis, Acanthocytosis, Congenital thrombocyt... OMIM:300367
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Anisocytosis, Hypochromic microcytic anemia OMIM:206200
Immunodeficiency 105
Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating IgG ... OMIM:619924
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Increased mean corpuscular volume, Poikilocytosis, Short stature, Anisocytosis, Pallor, A... ORPHA:98870
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating total IgM, Increased circulating IgE level, Increased circulating interleuk... OMIM:618944
Elliptocytosis 1
Pallor, Elliptocytosis, Splenomegaly, Hemolytic anemia OMIM:611804
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM OMIM:610798
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Anemia OMIM:611283
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Beta-Thalassemia Major
Anisopoikilocytosis, Delayed puberty, Skin ulcer, Hypochromic microcytic anemia, Decreased mean c... ORPHA:231214
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Agammaglobulinemia, Decreased circulating total IgM, Decreased c... OMIM:612692
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemia of inadequat... ORPHA:75564
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Increased circulating IgM level, Decreased circulating IgA level... OMIM:608106
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating IgG level, Decreased circulating total IgM OMIM:618987
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Monoclonal immunoglobulin M proteinemia, Cryoglobulinemia, Lymphoma, Multiple myeloma ORPHA:209004
Fanconi Anemia, Complementation Group D1
T-cell acute lymphoblastic leukemias, Acute myeloid leukemia, Chromosomal breakage induced by cro... OMIM:605724
Lymphoproliferative Syndrome 3
Hodgkin lymphoma, Decreased circulating antibody level, Lymphoproliferative disorder, Partial abs... OMIM:618261
Fetal Parvovirus Syndrome
Intrauterine growth retardation, Thrombocytopenia, Anemia, Hypertrophic cardiomyopathy ORPHA:295
Pyropoikilocytosis, Hereditary
Pyropoikilocytosis, Elliptocytosis, Hemolytic anemia, Microspherocytosis OMIM:266140
Immunodeficiency 18
Defective T cell proliferation, Decreased circulating total IgA, Decreased circulating total IgM,... OMIM:615615
3-Methylglutaconic Aciduria, Type Viia
Anisopoikilocytosis, Anemia, Neutropenia OMIM:619835
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Reduced erythrocyte adenosine triphosphate concentration, Reticulocytosis, Erythroid hyperplasia,... OMIM:301083
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Anemia, Anemia of inadequate production, Persistence of hemoglobin F, Reticul... OMIM:613673
Myeloma, Multiple
Paraproteinemia, Multiple myeloma OMIM:254500
Immunodeficiency, Common Variable, 7
Decreased circulating total IgG, Chronic partially decreased circulating IgG1, Decreased specific... OMIM:614699
Congenital Amegakaryocytic Thrombocytopenia
Short stature, Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Reticulocytosis, Abnormal mean corpuscular v... ORPHA:3203
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Fanconi Anemia, Complementation Group G
Leukemia, Abnormality of chromosome stability, Myelodysplasia OMIM:614082
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Decreased hemo... OMIM:266200
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Anisocytosis, ... OMIM:300908
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies OMIM:140700
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level OMIM:300861
X-Linked Sideroblastic Anemia
Pallor, Anemia, Splenomegaly ORPHA:75563
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Poikilocytosis, Elliptocytosis, Anisocytosis, Thrombocytopenia, Abnormal retic... OMIM:300835
Trimethylaminuria
Anemia, Hypertension, Splenomegaly, Tachycardia, Neutropenia OMIM:602079
Primary Myelofibrosis
Purpura, Anemia, Thrombocytosis, Pancytopenia, Petechiae, Leukocytosis, Poikilocytosis, Ecchymosi... ORPHA:824
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis OMIM:619398
Chromosome 5Q Deletion Syndrome
Anemia of inadequate production, Erythroid hypoplasia, Refractory macrocytic anemia OMIM:153550
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Fanconi Anemia, Complementation Group J
Chromosomal breakage induced by crosslinking agents OMIM:609054
Spherocytosis, Type 5
Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia, Abnormal... OMIM:612690
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Reduced erythrocyte gamma-glutamyl cysteine synthetase activity, Hemolytic anemia, Reticulocytosis OMIM:230450
Nephronophthisis
Anemia ORPHA:655
Hereditary Elliptocytosis
Postnatal growth retardation, Skin ulcer, Reticulocytosis, Poikilocytosis, Elliptocytosis, Spleno... ORPHA:288
Elliptocytosis 3
Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia, Decreased mean corpuscular volume OMIM:617948
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Chromosomal breakage induced by crosslinking agents OMIM:616435
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Diamond-Blackfan Anemia 9
Growth delay, Anemia OMIM:613308
Developmental And Epileptic Encephalopathy 50
Anisopoikilocytosis, Anemia, Acanthocytosis, Schistocytosis OMIM:616457
Diamond-Blackfan Anemia 16
Pulmonic stenosis, Anemia OMIM:617408
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Reduced erythrocyte adenylate kinase activity, Hemolytic anemia OMIM:612631
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly OMIM:312500
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Increased circulating interleukin 6 concentration, Partial absence of specific antibody response ... OMIM:620430
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgG level, Decreased circulating total IgM, Decreased circulating IgA level OMIM:611926
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
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
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Anemia of inadequate production, Splenomegaly, Reticulocytosis OMIM:237800
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability OMIM:600546
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Anemia, Hepatosplenomegaly OMIM:273680
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Elliptocytosis, Anemia of inadequate production, Hemolytic anemia OMIM:166910
Hydrops Fetalis, Nonimmune
Congestive heart failure, Anemia OMIM:236750
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgG level, Decreased circulating total IgM, Reduced natural killer cell act... OMIM:619281
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Anemia, Hypochromic microcytic anemia, Howell-Jolly bodies, Poikilocytosis, Sideroblastic anemia,... OMIM:301310
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Abnormal immunoglobulin level, Increased circulating IgG level, Increased circulating IgE level, ... ORPHA:98813
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Thrombocytopenia, Anemia, Epistaxis OMIM:616176
Spherocytosis, Type 2
Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia OMIM:616649
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Partial absence of specific antibody response ... OMIM:301082
Beta-Thalassemia, Dominant Inclusion Body Type
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Erythrocyte inc... OMIM:603902
Acute Peripheral Arterial Occlusion
Pallor, Leukocytosis ORPHA:90064
Beta-Thalassemia
Skin ulcer, Anemia, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Pallor, Microcytic anemia ORPHA:848
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Reticulocytosis, Short stature, Hepatosplenomegaly, Decreased mean corpuscular volume, Pallor, He... OMIM:611590
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Growth delay, Short stature, Neutropenia OMIM:612527
Cryohydrocytosis
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:185020
Spherocytosis, Type 3
Spherocytosis, Hemolytic anemia OMIM:270970
Immunodeficiency 54
Chromosome breakage, Lymphoproliferative disorder OMIM:609981
Rh-Null, Amorph Type
Stomatocytosis, Anisocytosis, Hemolytic anemia, Reticulocytosis OMIM:617970
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... OMIM:314050
Immunodeficiency 11B With Atopic Dermatitis
Decreased circulating total IgM, Increased circulating IgE level OMIM:617638
Immunodeficiency 11A
Agammaglobulinemia, Decreased circulating antibody level, Reduced antigen-specific T cell prolife... OMIM:615206
Short Fifth Metacarpals-Insulin Resistance Syndrome
Short stature, Spherocytosis, Splenomegaly ORPHA:66518
Refractory Anemia
Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Abnormal cardiac... ORPHA:98826
Eosinophilia, Familial
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis OMIM:131400
Erythroleukemia, Familial, Susceptibility To
Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplasia, Leukemia OMIM:133180
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating IgG ... OMIM:614069
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Thiamine-Responsive Megaloblastic Anemia Syndrome
Thrombocytopenia, Pallor, Megaloblastic anemia, Short stature ORPHA:49827
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM OMIM:615139
Hb Bart'S Hydrops Fetalis
Pallor, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Peripheral Cone Dystrophy
Pallor OMIM:609021
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Hereditary Spherocytosis
Skin ulcer, Anemia, Spontaneous hemolytic crises, Increased mean corpuscular hemoglobin concentra... ORPHA:822
Short Stature With Microcephaly And Distinctive Facies
Anisopoikilocytosis, Anemia, Severe short stature OMIM:615789
Immunodeficiency 112
Decreased circulating IgG level, Decreased circulating total IgM, Decreased circulating IgA level OMIM:620449
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Immunodeficiency, Common Variable, 1
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... OMIM:607594
Immunodeficiency 109 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased spe... OMIM:620282
Whim Syndrome 1
Verrucae, Decreased circulating IgG level, Decreased circulating antibody level OMIM:193670
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Growth delay, Sideroblastic anemia, Pallor OMIM:613561
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula... ORPHA:3202
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level ORPHA:2643
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Short stature, Pallor ORPHA:2786
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Short stature, Abnormal reticulocyte morphology ORPHA:2522
Spherocytosis, Type 4
Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612653
Fanconi Anemia, Complementation Group S
Chromosome breakage, Ovarian carcinoma, Ovarian neoplasm, Breast carcinoma OMIM:617883
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Decreased circulating total IgM, Decreased circulating IgE, Decr... OMIM:618394
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Postnatal growth retardation, Anemia, Severe short stature OMIM:618728
Ovalocytosis, Southeast Asian
Elliptocytosis, Hemolytic anemia OMIM:166900
Familial Pseudohyperkalemia
Increased mean corpuscular volume, Stomatocytosis, Reticulocytosis, Episodic hemolytic anemia ORPHA:90044
Rh Deficiency Syndrome
Macrocytic anemia, Hypochromia, Spherocytosis, Reticulocytosis, Anisocytosis, Hepatosplenomegaly,... ORPHA:71275
Elliptocytosis 2
Elliptocytosis, Hemolytic anemia, Reticulocytosis OMIM:130600
Lathosterolosis
Anisopoikilocytosis, Meningocele, Thrombocytopenia, Abnormal platelet morphology, Intrauterine gr... ORPHA:46059
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia OMIM:619523
Evans Syndrome
Autoimmune hemolytic anemia, Petechiae, Neutropenia in presence of anti-neutropil antibodies, Pal... ORPHA:1959
Immunodeficiency 50
Decreased circulating antibody level OMIM:300988
Immunodeficiency 10
Increased circulating IgG3 level, Increased circulating IgA level, Kaposi's sarcoma, Decreased ci... OMIM:612783
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Decreased circulating antibody level OMIM:616873
Leishmaniasis
Skin ulcer, Anemia, Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Throm... ORPHA:507
Immunodeficiency 96
Defective T cell proliferation, Decreased circulating total IgM, Decreased circulating IgG level,... OMIM:619774
Hemophagocytic Lymphohistiocytosis, Familial, 3
Granulocytopenia, Anemia, Hemophagocytosis, Hepatosplenomegaly OMIM:608898
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Delayed puberty, Growth delay, Hypochromic anemia, Sideroblastic anemia, Microcytic anemia, Eryth... OMIM:600462
Diamond-Blackfan Anemia 12
Reticulocytopenia, Elevated red cell adenosine deaminase activity, Normochromic anemia, Macrocyti... OMIM:615550
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Pulmonary embolism, Anemia, Cerebral hemorrhage OMIM:614514
Myelofibrosis
Purpura, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Pallor, Extramedullary hema... OMIM:254450
Glutamate-Cysteine Ligase Deficiency
Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis ORPHA:33574
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Thrombocytopenia, Monocytosis, Anemia, Neutropenia OMIM:620534
Anemia, Hypochromic Microcytic, With Iron Overload 1
Erythroid hyperplasia, Hypochromia, Anemia, Decreased mean corpuscular volume OMIM:206100
Gaisböck Syndrome
Myocardial infarction, Increased red blood cell count, Elevated plasma cell count, Increased mean... ORPHA:90041
Acute Erythroid Leukemia
Leukopenia, Anemia, Erythroid hypoplasia, Pancytopenia ORPHA:318
Megaloblastic Anemia, Folate-Responsive
Folate-responsive megaloblastic anemia, Hypersegmentation of neutrophil nuclei, Schistocytosis, E... OMIM:601775
Dermatitis, Atopic
Pallor, Facial erythema, Dry skin OMIM:603165
Anemia, Congenital Dyserythropoietic, Type Ii
Anemia of inadequate production, Splenomegaly, Reticulocytosis OMIM:224100
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Epis... OMIM:616216
Spherocytosis, Type 1
Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:182900
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased mean corpuscular hemoglobin concentration, Increased red cell hemolysis by shear stress... OMIM:194380
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis OMIM:179700
Diamond-Blackfan Anemia 5
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Short stature, Leukopenia OMIM:612528
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemia... OMIM:258900
Immunodeficiency 85 And Autoimmunity
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... OMIM:619510
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ... OMIM:616959
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Leukopenia OMIM:615715
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating total IgM, Agammaglobulinemia, Decreased circulating IgG level OMIM:619705
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating total IgM, Decreased circulating IgG level OMIM:620210
Fanconi Anemia, Complementation Group O
Chromosome breakage OMIM:613390
Fragile X Syndrome
Folate-dependent fragile site at Xq28 OMIM:300624
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents OMIM:619060
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... OMIM:619041
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Increased mean corpuscular volume, Megaloblastic anemia, Thrombocytopenia, Pallor OMIM:613839
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, T lymphocytopenia, Growth delay, Thrombocytopenia, Lymphopenia ORPHA:169079
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Anemia, Thrombocytopenia, Macrothrombocytopenia OMIM:187800
Dyskeratosis Congenita, Digenic
Basal cell carcinoma, Squamous cell carcinoma of the skin, Melanoma, Decreased circulating IgG le... OMIM:620040
Fanconi Anemia, Complementation Group V
Chromosomal breakage induced by crosslinking agents OMIM:617243
Immunodeficiency 15B
Agammaglobulinemia, Decreased circulating antibody level, Decreased lymphocyte proliferation in r... OMIM:615592
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ... OMIM:301081
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary hematopoiesis, Neutropenia OMIM:615285
Rh-Null, Regulator Type
Stomatocytosis, Hemolytic anemia OMIM:268150
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... ORPHA:70593
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgG level, Facial papilloma, Increased circulating IgM level OMIM:619220
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Increased susceptibility to spontaneous sister chromatid exchange OMIM:618097
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia OMIM:200900
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating total IgM, Increased circulating IgE level, Decreased circulating IgA level... OMIM:619752
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Bone-marrow foam cells, Short stature, Thrombocytopenia, Splenome... OMIM:607616
Mitochondrial Complex I Deficiency, Nuclear Type 39
Intrauterine growth retardation, Anemia, Hypertrophic cardiomyopathy OMIM:620135
Ichthyosis, Congenital, Autosomal Recessive 5
White scaling skin, Acanthocytosis OMIM:604777
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Increased circulating IgM level, Decreased circulating IgG2 level, Decreased specific pneumococca... OMIM:615513
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612126
Cold Agglutinin Disease
Pallor, Splenomegaly, Hemolytic anemia ORPHA:56425
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Arrhythmia, Thrombocytopenia, Microangiopathic hemolytic anemia, Myocardial infa... ORPHA:54057
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating IgG ... OMIM:616100
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Anemia, Increased mean corpuscular volume, Hypertension, Pulmonary arterial hypertension, Siderob... OMIM:617021
Immunodeficiency 69
Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy... OMIM:618963
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Petechiae, Increased mean platelet volume, Thrombocytopenia, Ecchymosis, Splenomegaly, Stomatocyt... OMIM:153670
Immunodeficiency 25
Increased circulating IgG level, Complete or near-complete absence of specific antibody response ... OMIM:610163
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Pallor, Splenomegaly ORPHA:90037
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Lymphoma, Hodgkin lymphoma, Decreased CD69... OMIM:300853
Nut Midline Carcinoma
Pancreatic squamous cell carcinoma, Squamous cell carcinoma, Oropharyngeal squamous cell carcinom... ORPHA:443167
Diamond-Blackfan Anemia 20
Anemia, Erythroid hypoplasia OMIM:618313
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Immunoglobulin A Deficiency 2
Decreased circulating IgA level OMIM:609529
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Normochromic anemia, Nonspherocytic hemolytic anemia, Reticulocytosis, Splenom... OMIM:235700
Lathosterolosis
Anisopoikilocytosis OMIM:607330
Ataxia-Pancytopenia Syndrome
Anemia, Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Hypoplastic anemia, Neutro... OMIM:159550
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Decreased circulating antibody level, Lymphoma, Decreased circulating IgG level, Decreased circul... ORPHA:436159
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Panhypogammaglobulinemia OMIM:615214
Fanconi Anemia, Complementation Group Q
Chromosome breakage OMIM:615272
Idiopathic Aplastic Anemia
Anemia, Pancytopenia, Reticulocytopenia, Retinal hemorrhage, Thrombocytopenia, Epistaxis, Neutrop... ORPHA:88
Immunodeficiency 64 With Lymphoproliferation
Defective T cell proliferation, Increased circulating IgG level, Increased circulating IgA level,... OMIM:618534
Orthostatic Hypotension 2
Anemia, Orthostatic hypotension OMIM:618182
Overhydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Reticulocytosis, Splenomegaly, Stomatocytosis, Hemolytic anemia OMIM:185000
Immunodeficiency 95
Increased circulating IgG3 level, Decreased circulating IgG3 level OMIM:619773
Colchicine Poisoning
Myocarditis, Congestive heart failure, Hypotension, Leukocytosis, Hypovolemia, Cardiogenic shock,... ORPHA:31824
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased circulating IgA level OMIM:614878
Ataxia-Pancytopenia Syndrome
Decreased circulating antibody level, Abnormal platelet function, Acute myelomonocytic leukemia ORPHA:2585
Acute Adrenal Insufficiency
Delayed puberty, Normocytic anemia, Orthostatic hypotension, Hypotension, Hypovolemia, Myocardial... ORPHA:95409
Stormorken-Sjaastad-Langslet Syndrome
Short stature, Anemia, Asplenia ORPHA:3204
Immunodeficiency, Common Variable, 10
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level OMIM:615577
Fragile X Syndrome
Folate-dependent fragile site at Xq28 ORPHA:908
Letterer-Siwe Disease
Anemia, Thrombocytopenia, Hepatosplenomegaly, Pallor, Neutropenia OMIM:246400
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia OMIM:616941
Optic Atrophy 1
Pallor OMIM:165500
Intermediate Generalized Junctional Epidermolysis Bullosa
Growth delay, Anemia ORPHA:79402
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level OMIM:233650
Bone Marrow Failure Syndrome 4
Anemia, Rhizomelia, Short stature, Thrombocytopenia, Leukopenia OMIM:618116
Hemochromatosis, Type 2B
Congestive heart failure, Cardiomyopathy, Anemia, Splenomegaly OMIM:613313
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Autoimmune Lymphoproliferative Syndrome
Increased circulating antibody level, Neoplasm of the tongue, Neoplasm of the skin, Hodgkin lymph... ORPHA:3261
Beta-Thalassemia Intermedia
Skin ulcer, Anemia of inadequate production, Leukocytosis, Persistence of hemoglobin F, Hepatospl... ORPHA:231222
Aregenerative Anemia
Erythroid hypoplasia, Pancytopenia, Abnormal proportion of CD8-positive T cells, Reticulocytopeni... ORPHA:101096
Formiminoglutamic Aciduria
Megaloblastic anemia, Anemia ORPHA:51208
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating antibody level, Reduced antigen-specific T cell proliferation, Decreased ci... ORPHA:331206
Phosphoglycerate Kinase 1 Deficiency
Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis OMIM:300653
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Bloom Syndrome
Esophageal neoplasm, Acute myeloid leukemia, Stomach cancer, Neoplasm of the skin, Decreased circ... ORPHA:125
Dominant Beta-Thalassemia
Delayed puberty, Skin ulcer, Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin... ORPHA:231226
Primary Intestinal Lymphangiectasia
Decreased circulating antibody level, Disseminated cutaneous warts, Decreased circulating IgG lev... ORPHA:90362
Immunodeficiency 46
Anemia, Intermittent thrombocytopenia, Neutropenia OMIM:616740
Osteopetrosis, Autosomal Recessive 4
Anemia, Reticulocytosis, Growth delay, Thrombocytopenia, Splenomegaly OMIM:611490
Alpha-Heavy Chain Disease
Growth delay, Anemia, Splenomegaly ORPHA:100025
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Short stature, Anemia, Intrauterine growth retardation, Neutropenia OMIM:617056
Sneddon Syndrome
Decreased circulating total IgM OMIM:182410
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Abnormal neutrophil count, Myeloproliferative disorder, Leukocytosis, Thrombocyto... ORPHA:3226
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Lysosomal Acid Lipase Deficiency
Anemia, Vacuolated lymphocytes, Bone-marrow foam cells, Hypotension, Pulmonary arterial hypertens... ORPHA:275761
Immunodeficiency 22
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... OMIM:615758
Dohle Bodies And Leukemia
Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies OMIM:223350
Hereditary Folate Malabsorption
Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Eosinophilia, Pallor ORPHA:90045
Attrv122I Amyloidosis
Abnormal atrioventricular conduction, Congestive heart failure, Anemia, Reduced left ventricular ... ORPHA:85451
Cyclic Vomiting Syndrome
Growth delay, Pallor OMIM:500007
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive
Macrocytic dyserythropoietic anemia, Macrocytic anemia OMIM:619789
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Short stature OMIM:615925
Combined Oxidative Phosphorylation Deficiency 42
Intrauterine growth retardation, Cardiomyopathy, Neonatal death, Anemia OMIM:618839
Combined Oxidative Phosphorylation Deficiency 40
Intrauterine growth retardation, Neonatal death, Anemia, Hypertrophic cardiomyopathy OMIM:618835
Immunodeficiency, Common Variable, 8, With Autoimmunity
Lymphoma, Decreased specific antibody response to vaccination, Decreased circulating IgG level, D... OMIM:614700
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Anemia, Schistocytosis, Leukopenia, Thrombocytopenia, Lymphopenia, Disproportionate short stature... OMIM:301110
Plummer-Vinson Syndrome
Pallor, Hypochromic microcytic anemia, Iron deficiency anemia ORPHA:54028
Immunodeficiency 9
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level OMIM:612782
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Anemia ORPHA:371
Fanconi Anemia, Complementation Group U
Chromosome breakage OMIM:617247
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration
Acanthocytosis OMIM:607236
Sitosterolemia 1
Chronic hemolytic anemia, Giant platelets, Anemia, Episodic hemolytic anemia, Reticulocytosis, Th... OMIM:210250
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anemia, Hypochromia, Anisocytosis, Hepatosplenomegaly, Splenomegaly, Decreased mean corpuscular v... OMIM:616860
Fanconi Anemia, Complementation Group P
Squamous cell carcinoma, Chromosomal breakage induced by crosslinking agents OMIM:613951
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Increased circulating IgG level, Decreased circulating total IgM, Increased circulating IgE level... OMIM:243700
Mu-Heavy Chain Disease
Anemia, Splenomegaly, Abnormal B cell count ORPHA:100024
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Pallor ORPHA:90036
Lymphoproliferative Syndrome, X-Linked, 1
Dysgammaglobulinemia, Decreased circulating antibody level, Lymphoma, Decreased circulating IgG l... OMIM:308240
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Absent isohemagglutinin level OMIM:613501
Bloom Syndrome
Squamous cell carcinoma, Abnormality of chromosome stability, Lymphoma, Chromosome breakage, Leuk... OMIM:210900
Marburg Hemorrhagic Fever
Bradycardia, Capillary leak, Neutrophilia in presence of infection, Abnormal lymphocyte morpholog... ORPHA:99826
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Anemic pallor, Anemia of inadequate production, Leukocytosis, Abnormal me... ORPHA:86839
Immunodeficiency 115 With Autoinflammation
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Par... OMIM:620632
Combined Oxidative Phosphorylation Deficiency 41
Intrauterine growth retardation, Anemia OMIM:618838
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Anemia, Patent ductus arteriosus ORPHA:2123
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Pallor, Splenomegaly, Chronic lymphatic leukemia ORPHA:90033
Fanconi Anemia, Complementation Group N
Acute myeloid leukemia, Medulloblastoma, Neuroblastoma, Nephroblastoma, Chromosomal breakage indu... OMIM:610832
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Decreased circulating IgE, Impaired Ig class switch recombination, Increase... OMIM:308230
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Growth delay, Anemic pallor, Anemia ORPHA:329971
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced delayed hypersensitivity, Increased circulating IgE level, Increased circulating IgM leve... OMIM:617241
Agammaglobulinemia, X-Linked
Decreased circulating IgE, Hepatocellular carcinoma, Decreased circulating IgG level, Decreased c... OMIM:300755
Thymoma
Neoplasm of the thyroid gland, Prostate neoplasm, Neoplasm of the gastrointestinal tract, Leukemi... ORPHA:99867
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia OMIM:620481
Ataxia-Telangiectasia
Abnormality of chromosome stability, Neoplasm ORPHA:100
Abetalipoproteinemia
Acanthocytosis OMIM:200100
Immunodeficiency 97 With Autoinflammation
Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating IgG ... OMIM:619802
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor ORPHA:276608
Hemochromatosis, Type 3
Cardiomyopathy, Neutropenia, Anemia, Lymphopenia OMIM:604250
Immunodeficiency 21
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu... OMIM:614172
Focal Segmental Glomerulosclerosis 1
Hypertension, Anemia OMIM:603278
Harderoporphyria
Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:618892
Lesch-Nyhan Syndrome
Anemia ORPHA:510
Familial Hypoaldosteronism
Hypotension, Orthostatic hypotension, Hypovolemia, Growth delay ORPHA:427
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Chron... ORPHA:98849
Senior-Loken Syndrome 4
Anemia OMIM:606996
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Purpura, Reticulocytosis, Thrombocytopenia, Microangiopathic hemolytic anemia, Schistocytosis OMIM:235400
Nephronophthisis 9
Postnatal growth retardation, Anemia OMIM:613824
Immunodeficiency 43
Abnormal circulating IgM level, Decreased circulating IgG level, Decreased specific antibody resp... OMIM:241600
Arthrogryposis Multiplex Congenita 5
Normocytic anemia, Premature skin wrinkling, Poikilocytosis, Growth delay, Umbilical hernia, Intr... OMIM:618947
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Fanconi Anemia, Complementation Group R
Chromosomal breakage induced by crosslinking agents OMIM:617244
Cocaine Intoxication
Ischemic stroke, Prolonged QT interval, Supraventricular arrhythmia, Hypertension, Hypotension, H... ORPHA:90068
Amed Syndrome, Digenic
Anemia, Acute myeloid leukemia, Short stature, Thrombocytopenia, Leukopenia OMIM:619151
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating total IgM, Increased circulating IgE level, Absent specific antibody respon... OMIM:102700
Sickle Cell Anemia
Ischemic stroke, Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular vol... ORPHA:232
Immune Dysregulation, Autoimmunity, And Autoinflammation
Anemia, Epistaxis OMIM:620514
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia OMIM:616738
Familial Benign Copper Deficiency
Short stature, Anemia ORPHA:1551
Leukocyte Adhesion Deficiency, Type Iii
Anemia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Epistaxis, Extramedullary hematopoiesis OMIM:612840
Bone Marrow Failure Syndrome 5
Anemia, Erythroid hypoplasia, Short stature, Pure red cell aplasia, Growth delay OMIM:618165
Nephrogenic Diabetes Insipidus
Short stature, Hypovolemia, Growth delay ORPHA:223
Neonatal Lupus Erythematosus
Aplastic anemia, Heart block, Anemia, Prolonged QT interval, Pancytopenia, Thrombocytopenia, Sple... ORPHA:398124
Congenital Heart Block
Intrauterine growth retardation, Pallor ORPHA:60041
Peripartum Cardiomyopathy
Myocarditis, Congestive heart failure, Left ventricular systolic dysfunction, Anemia, Left bundle... ORPHA:563
Fetal Cytomegalovirus Syndrome
Anemia, Retinal hemorrhage, Thrombocytopenia, Splenomegaly, Intrauterine growth retardation ORPHA:294
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, B lymphocytopenia, Growth delay, Sideroblastic anemia, Splenomegal... OMIM:616084
Idiopathic Pulmonary Hemosiderosis
Pallor, Hepatosplenomegaly, Iron deficiency anemia ORPHA:99931
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia OMIM:618849
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Ischemic stroke, Aortic regurgitation, Hypertension, Transient ischemic attack, Hypovolemia, Suba... ORPHA:91387
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level ORPHA:99811
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis OMIM:266120
Oslam Syndrome
Anemia OMIM:165660
Immunodeficiency 37
Decreased circulating antibody level OMIM:616098
Bone Marrow Failure Syndrome 3
Chromosome breakage, Acute myeloid leukemia OMIM:617052
Fanconi Anemia, Complementation Group I
Chromosomal breakage induced by crosslinking agents OMIM:609053
Retinitis Pigmentosa 51
Pallor OMIM:613464
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis ORPHA:713
Activated Pi3K-Delta Syndrome
Increased circulating IgM level, Decreased circulating antibody level, Lymphoma ORPHA:397596
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, Decreased circulating IgG level, Increased circulating IgM level, B-c... OMIM:616005
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Anemia, Splenomegaly OMIM:615085
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level OMIM:607143
Amme Complex
Intrauterine growth retardation, Elliptocytosis, Umbilical hernia OMIM:300194
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased circulating total IgG, Decreased circulating antibody level, Decreased specific antibod... ORPHA:221139
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Immunodeficiency 52
Defective T cell proliferation, Decreased circulating antibody level, Decreased circulating IgA l... OMIM:617514
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Bone marrow hypocellularity, Decreased circulating antibody level, Myelodysplasia OMIM:619767
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Elliptocytosis, Anisocyt... OMIM:618278
Lymphoproliferative Syndrome 2
Decreased circulating antibody level, Lymphoma, Hodgkin lymphoma, Lymphoproliferative disorder, D... OMIM:615122
Ciliary Dyskinesia, Primary, 29
Decreased circulating antibody level OMIM:615872
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Increased circulating IgE level OMIM:615767
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating antibody level, Decreased circulating IgA level OMIM:617744
Transcobalamin Ii Deficiency
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level OMIM:275350
Dyskeratosis Congenita, Autosomal Recessive 8
Chromosomal breakage induced by crosslinking agents OMIM:620133
Fanconi Anemia, Complementation Group E
Deficient excision of UV-induced pyrimidine dimers in DNA, Leukemia, Chromosomal breakage induced... OMIM:600901
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Vasculitis in the skin, Anemia, Splenomegaly OMIM:620296
Sickle Cell Disease
Splenic infarction, Leukocytosis, Target cells, Splenomegaly, Increased red cell sickling tendenc... OMIM:603903
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased circulating antibody level, Absent specific antibody response OMIM:619846
Hyperinsulinism Due To Ucp2 Deficiency
Pallor ORPHA:276556
Gaucher Disease, Type I
Anemia, Pancytopenia, Hypertension, Pulmonary arterial hypertension, Aortic valve stenosis, Throm... OMIM:230800
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Agammaglobulinemia, Decreased circulating antibody level OMIM:616910
Mogs-Cdg
Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating IgG ... ORPHA:79330
Diamond-Blackfan Anemia
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... ORPHA:124
Diamond-Blackfan Anemia 10
Anemia, Macrocytic anemia, Reticulocytopenia, Short stature, Growth delay, Steroid-responsive ane... OMIM:613309
Fanconi Anemia, Complementation Group A
Deficient excision of UV-induced pyrimidine dimers in DNA, Leukemia, Chromosomal breakage induced... OMIM:227650
Corticosteroid-Binding Globulin Deficiency
Hypertension, Anemia, Hypotension OMIM:611489
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Pallor ORPHA:276575
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Increased circulating IgA level, Abnormal circulating IgG level, Increased ... OMIM:300291
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Anemia ORPHA:2668
Irida Syndrome
Pallor ORPHA:209981
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor ORPHA:276580
Microvillus Inclusion Disease
Hypovolemia ORPHA:2290
Hereditary Cryohydrocytosis With Reduced Stomatin
Postnatal growth retardation, Spontaneous hemolytic crises, Short stature, Hepatosplenomegaly, St... ORPHA:168577
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Thrombocytopenia, Schistocytosis, Reticulocytosis OMIM:274150
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Decreased specific pneumococcal antibody level OMIM:617006
Secondary Intestinal Lymphangiectasia
Decreased circulating total IgM, Decreased circulating antibody level, Lymphoma, Decreased circul... ORPHA:90363
Hyperinsulinism Due To Hnf1A Deficiency
Pallor ORPHA:324575
Maternal Uniparental Disomy Of Chromosome 4
Short stature, Postnatal growth retardation, Abnormal erythrocyte morphology, Acanthocytosis ORPHA:96180
Schnitzler Syndrome
Increased circulating IgM level, Lymphoma ORPHA:37748
Selective Igm Deficiency
Thyroid carcinoma, Stomach cancer, Decreased specific antibody response to vaccination, Multiple ... ORPHA:331235
Chylomicron Retention Disease
Growth delay, Acanthocytosis ORPHA:71
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Short stature, Growth delay, Splenomegaly, Stomatocytosis, Hemolytic anemia OMIM:608885
Pearson Marrow-Pancreas Syndrome
Refractory sideroblastic anemia, Anemia, Pancytopenia, Reticulocytopenia, Sideroblastic anemia, T... OMIM:557000
Immunodeficiency, Common Variable, 6
Complete or near-complete absence of specific antibody response to tetanus vaccine, Chronic decre... OMIM:613496
Immunodeficiency 32B
Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, Impaired oxida... OMIM:226990
Stormorken Syndrome
Anemia, Howell-Jolly bodies, Asplenia, Short stature, Hypoplastic spleen, Thrombocytopenia, Epist... OMIM:185070
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Thrombocytopenia, Hypertension, Anemia, Microangiopathic hemolytic anemia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Thrombocytopenia, Hypertension, Anemia, Microangiopathic hemolytic anemia OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Thrombocytopenia, Hypertension, Anemia, Microangiopathic hemolytic anemia OMIM:612926
Imerslund-Grasbeck Syndrome 2
Growth delay, Megaloblastic anemia, Anemia OMIM:618882
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Transient hypogammaglobulinemia of infancy OMIM:251240
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Thrombocytopenia, Hypertension, Anemia, Microangiopathic hemolytic anemia OMIM:612924
Ovarian Hyperstimulation Syndrome
Capillary leak, Hypovolemia ORPHA:64739
Glycogen Storage Disease Vii
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemolytic anemia, Reticulocytosis OMIM:232800
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Decreased circulating antibody level ORPHA:85317
Fanconi Anemia, Complementation Group L
Chromosome breakage, Chromosomal breakage induced by crosslinking agents OMIM:614083
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lack of T cell function, Partial IgA deficiency, Decreased circulating IgG level, Decreased circu... ORPHA:35078
Epilepsy-Telangiectasia Syndrome
Decreased circulating antibody level, Decreased circulating IgA level ORPHA:1951
Rosaï-Dorfman Disease
Dysgammaglobulinemia ORPHA:158014
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Lymphoma, Decreased specific pneumococcal antibody level, Decreased circulating IgG level, Decrea... ORPHA:183675
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Anemia OMIM:613092
Sepsis In Premature Infants
Purpura, Anemia, Petechiae, Leukocytosis, Thrombocytopenia, Splenomegaly, Pallor, Neutropenia ORPHA:90051
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Capillary hemangioma, Increased circulating IgE level, Decreased circulating antibody level, Decr... ORPHA:508533
Arteriosclerosis, Severe Juvenile
Delayed puberty, Anemia, Hypertension, Short stature, Myocardial infarction OMIM:208060
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Increased circulating IgG level, Increased circulating IgA leve... OMIM:601859
Immunodeficiency 47
Decreased circulating total IgG, Chronic decreased circulating total IgG, Decreased circulating a... OMIM:300972
Fanconi Anemia, Complementation Group C
Deficient excision of UV-induced pyrimidine dimers in DNA, Leukemia, Chromosomal breakage induced... OMIM:227645
Dravet Syndrome
Pallor ORPHA:33069
Hydatidiform Mole
Anemia ORPHA:99927
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Congestive heart failure, Anemia, B lymphocytopenia, Noncompaction cardiomyopathy, Reticulocytope... ORPHA:508542
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Spina bifida occulta, Increase... OMIM:105650
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Thrombocytopenia, Hypertension, Anemia, Microangiopathic hemolytic anemia OMIM:612925
Hypobetalipoproteinemia, Familial, 1
Acanthocytosis OMIM:615558
Choreoacanthocytosis
Acanthocytosis OMIM:200150
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema ORPHA:439218
Copper Deficiency, Familial Benign
Anemia OMIM:121270
Lambert Syndrome
Decreased circulating antibody level ORPHA:1296
Congenital Disorder Of Glycosylation, Type Iir
Decreased circulating antibody level OMIM:301045
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Anemia, Hemophagocytosis, Pancytopenia OMIM:618398
Lymphoproliferative Syndrome 1
Decreased circulating antibody level, Hodgkin lymphoma, Decreased circulating IgG level, B-cell l... OMIM:613011
Isolated Permanent Neonatal Diabetes Mellitus
Intrauterine growth retardation, Hypovolemia ORPHA:99885
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Decreased circulating antibody level, Abnormal natural killer cell physiology OMIM:613101
Lig4 Syndrome
Acute leukemia, Abnormality of chromosome stability, Lymphoma ORPHA:99812
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Waldenström Macroglobulinemia
Normocytic anemia, Purpura, Splenomegaly, Pallor, Abnormality of neutrophils, Leukemia ORPHA:33226
8P11.2 Deletion Syndrome
Spherocytosis, Short stature, Growth delay, Splenomegaly, Hemolytic anemia ORPHA:251066
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level OMIM:312863
American Trypanosomiasis
Pallor, Splenomegaly ORPHA:3386
Retinitis Pigmentosa 75
Pallor OMIM:617023
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Anemia ORPHA:3405
Icf Syndrome
Anemia, Lymphopenia, Short stature, Umbilical hernia, Abnormality of neutrophils ORPHA:2268
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Fibroma, Decreased circulating antibody level OMIM:619750
Osteopetrosis, Autosomal Recessive 7
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level OMIM:612301
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormal immunoglobulin level, Increased circulating IgG level, Lymphoma, Decreased circulating I... ORPHA:276
Wiskott-Aldrich Syndrome
Decreased specific anti-polysaccharide antibody level, Abnormal delayed hypersensitivity skin tes... OMIM:301000
Neutrophilic Dermatosis, Acute Febrile
Small vessel vasculitis, Dilated cardiomyopathy, Anemia OMIM:608068
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 57 With Autoinflammation
Decreased circulating antibody level, Partial absence of specific antibody response to tetanus va... OMIM:618108
Immunodeficiency 55
Postnatal growth retardation, Dry skin, Short stature, Lymphopenia, Intrauterine growth retardati... OMIM:617827
Fanconi Anemia, Complementation Group F
Chromosomal breakage induced by crosslinking agents OMIM:603467
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Delayed puberty, Hypotension, Hypovolemia ORPHA:168558
Immunodeficiency 48
Panhypogammaglobulinemia OMIM:269840
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Delayed puberty, Hypotension, Hypovolemia ORPHA:289548
Hemochromatosis, Type 5
Anemia OMIM:615517
Fanconi Anemia, Complementation Group D2
Deficient excision of UV-induced pyrimidine dimers in DNA, Leukemia, Chromosomal breakage induced... OMIM:227646
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Thrombocytopenia, Anemia, Portal hypertension, Lymphopenia OMIM:620365
Dyskeratosis Congenita, Autosomal Dominant 3
Aplastic anemia, Gastrointestinal hemorrhage, Anemia, Macrocytic anemia, Pancytopenia, Short stat... OMIM:613990
Cowden Syndrome 1
Carcinoma, Fibroadenoma of the breast, Decreased circulating antibody level, Hamartomatous polypo... OMIM:158350
Mcleod Syndrome
Acanthocytosis, Splenomegaly OMIM:300842
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Anemia, Abnormal lymphocyte morphology, Thrombocytopenia, Splenomega... ORPHA:100026
3-Hydroxy-3-Methylglutaric Aciduria
Anemia, Leukocytosis, Leukopenia, Pallor, Thrombocytosis ORPHA:20
Nephronophthisis 4
Growth delay, Anemia OMIM:606966
Alopecia Antibody Deficiency
Decreased circulating antibody level ORPHA:1006
Myopathy, Mitochondrial, And Ataxia
Short stature, Pallor, Growth delay OMIM:617675
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor, Anemia OMIM:246450
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Verrucae, Decreased circulating IgG level, Decreased circulating IgA level ORPHA:275
Reticular Dysgenesis
Decreased circulating antibody level ORPHA:33355
Beta-Ketothiolase Deficiency
Pallor, Thrombocytosis, Leukocytosis ORPHA:134
Lymphoproliferative Syndrome, X-Linked, 2
Decreased circulating antibody level OMIM:300635
Meningioma
Spinal meningioma, Chromosomal breakage induced by ionizing radiation, Neoplasm of the tongue, Ne... ORPHA:2495
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Lymphangiectasia, Intestinal
Decreased circulating IgG level OMIM:152800
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Adenohypophysitis
Pallor, Normochromic anemia ORPHA:95512
Riddle Syndrome
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level ORPHA:420741
Simple Cryoglobulinemia
Monoclonal elevation of IgG, Chronic lymphatic leukemia, Monoclonal elevation of circulating IgA,... ORPHA:91139
Sandifer Syndrome
Hematemesis, Anemia ORPHA:71272