Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
runt related transcription factor 1
Synonyms:
runt domain, alpha subunit 2,  Cbfa2,  AML1,  Pebp2a2

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 Runx1 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 Runx1 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Runx1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Aneurysm, Intracranial Berry, 12
Internal carotid artery dissection, Subarachnoid hemorrhage, Cerebral berry aneurysm, Arterial fi... OMIM:618734
Aneurysm, Intracranial Berry, 1
Intracranial hemorrhage, Dilatation of the cerebral artery OMIM:105800
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Aneurysm, Intracranial Berry, 2
Subarachnoid hemorrhage, Cerebral berry aneurysm OMIM:608542
Immunodeficiency 69
Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy... OMIM:618963
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
Internal Carotid Absence
Subarachnoid hemorrhage, Cerebral ischemia, Dilatation of the cerebral artery ORPHA:981
Diamond-Blackfan Anemia-Like
Pure red cell aplasia, Steroid-responsive anemia OMIM:617911
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia OMIM:620534
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto... OMIM:614470
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ... ORPHA:86841
Congenital Factor X Deficiency
Prolonged prothrombin time, Spontaneous hematomas, Gastrointestinal hemorrhage, Post-partum hemor... ORPHA:328
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi... ORPHA:75564
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... OMIM:314050
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Reticular Dysgenesis
Congenital agranulocytosis, Lack of T cell function, Hypoplasia of the thymus, Impaired T cell fu... OMIM:267500
Hemophilia A
Spontaneous hematomas, Gastrointestinal hemorrhage, Splenic rupture, Joint hemorrhage, Intracrani... ORPHA:98878
Anemia, Congenital Dyserythropoietic, Type Ib
Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,... OMIM:615631
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Anemia, Impaired platelet aggregation, Thrombocytopenia, ... OMIM:187800
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
Thrombocythemia 3
Thrombocytosis OMIM:614521
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Bone marrow hypocellularity, Leukopenia, Monocytosis OMIM:616871
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia ORPHA:494444
Immunodeficiency 79
Decreased proportion of CD4-positive T cells OMIM:619238
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
Thrombocythemia 2
Thrombocytosis OMIM:601977
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Immunodeficiency 27A
Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged mesenteric lymp... OMIM:209950
Asplenia, Isolated Congenital
Howell-Jolly bodies, Thrombocytosis, Asplenia OMIM:271400
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Cerebral Cavernous Malformations 2
Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia OMIM:603284
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Reversible Cerebral Vasoconstriction Syndrome
Ischemic stroke, Abnormal bleeding, Dilatation of the cerebral artery, Transient ischemic attack,... ORPHA:284388
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Anemia ORPHA:2802
Immunodeficiency 15A
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... OMIM:618204
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic... ORPHA:67044
Cerebral Amyloid Angiopathy, Cst3-Related
Stroke, Cerebral hemorrhage, Intracranial hemorrhage OMIM:105150
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Gastrointestinal hemorrhage, Epidural hemorrhage, Post-partum hemorrhage, Menorrhagia, Joint hemo... ORPHA:465
Circumvallate Placenta Syndrome
Intracranial hemorrhage OMIM:215550
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Cerebral Cavernous Malformations
Cerebral cavernous malformation, Intracranial hemorrhage OMIM:116860
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Essential Thrombocythemia
Acute leukemia, Leukocytosis, Abnormality of thrombocytes, Abnormal platelet morphology, Splenome... ORPHA:3318
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia OMIM:618310
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced pl... OMIM:619271
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Sterile abscess, Pancytopenia, Hepatosplenomegaly, Thrombocytosis, Microcytic anemia OMIM:604416
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,... OMIM:616689
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis OMIM:619281
Abetal34V Amyloidosis
Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology ORPHA:324703
Thrombocythemia 1
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Imp... OMIM:187950
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Neutrophil inclusion bodies, Giant platelets, Impaired epinephrine-induced platelet aggregation, ... OMIM:155100
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, An... OMIM:617780
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell... OMIM:312863
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre... OMIM:615193
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced delayed hypersensitivity, Decreased proportion of CD8-positive T cells, Increased circula... OMIM:617241
Immunodeficiency 48
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Splenomegaly, Abnormal ... OMIM:269840
Primary Myelofibrosis
Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Extramedullary hematopoiesis, Leukocytosis, ... ORPHA:824
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage OMIM:603285
Moderate Hemophilia A
Spontaneous hematomas, Gastrointestinal hemorrhage, Abnormal bleeding, Epidural hemorrhage, Gingi... ORPHA:169805
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgE, Hypoplasia... OMIM:300400
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Increa... OMIM:620486
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis OMIM:603529
Amegakaryocytic Thrombocytopenia, Congenital, 1
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia OMIM:604498
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis OMIM:619398
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis... OMIM:616860
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr... OMIM:133100
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Diamond-Blackfan Anemia 13
Normocytic anemia, Elevated red cell adenosine deaminase activity OMIM:615909
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno... ORPHA:3203
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Immunodeficiency 15B
Monocytosis, Reduced natural killer cell count OMIM:615592
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Erythrocytosis, Familial, 4
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:611783
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Slc35A1-Cdg
Thrombocytopenia, Giant platelets, Abnormal platelet granules, Neutropenia ORPHA:238459
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Factor Vii Deficiency
Abnormal bleeding, Menorrhagia, Joint hemorrhage, Epistaxis, Intracranial hemorrhage, Bruising su... OMIM:227500
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Familial Cervical Artery Dissection
Stroke, Hypertension, Transient ischemic attack, Cerebral ischemia, Recurrent cerebral hemorrhage... ORPHA:36382
Immune Thrombocytopenia
Purpura, Gastrointestinal hemorrhage, Petechiae, Gingival bleeding, Epistaxis, Cerebral hemorrhag... ORPHA:3002
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Myh9-Related Disease
Increased mean platelet volume, Neutrophil inclusion bodies, Giant platelets, Congenital thromboc... ORPHA:182050
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Pulmonary embolism, Anemia, Cerebral hemorrhage OMIM:614514
Eosinophilia, Familial
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis OMIM:131400
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Erythrocytosis, Familial, 5
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617907
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
Cardiomyopathy, Dilated, 2G
Left atrial enlargement, Aortic regurgitation, Paroxysmal ventricular tachycardia, Myocardial sar... OMIM:619897
Reticuloendotheliosis, X-Linked
Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly OMIM:312500
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula... ORPHA:3202
Factor Xiii, A Subunit, Deficiency Of
Spontaneous hematomas, Abnormal bleeding, Gingival bleeding, Abnormal umbilical stump bleeding, J... OMIM:613225
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol... OMIM:300908
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... OMIM:619924
Congenital Factor V Deficiency
Spontaneous hematomas, Gastrointestinal hemorrhage, Post-partum hemorrhage, Gingival bleeding, Pr... ORPHA:326
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope... ORPHA:444463
Immunodeficiency 51
Chronic oral candidiasis, Recurrent otitis media, Recurrent bronchitis, Chronic mucocutaneous can... OMIM:613953
Pulmonary Nodular Lymphoid Hyperplasia
Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Bernard-Soulier Syndrome
Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Impaired ristocetin-induced platelet ag... OMIM:231200
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Congenital Factor Xiii Deficiency
Spontaneous hematomas, Post-partum hemorrhage, Oral cavity bleeding, Gingival bleeding, Delayed o... ORPHA:331
Histiocytosis, Progressive Mucinous
Mucinous histiocytosis OMIM:142630
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Papular Xanthoma
Histiocytosis ORPHA:158008
Trimethylaminuria
Anemia, Splenomegaly, Neutropenia OMIM:602079
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-ind... OMIM:617443
Hemophagocytic Lymphohistiocytosis, Familial, 3
Granulocytopenia, Anemia, Hemophagocytosis, Hepatosplenomegaly OMIM:608898
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... OMIM:133180
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R... OMIM:224120
Thrombocytopenia 2
Abnormal platelet shape, Thrombocytopenia, Leukocytosis, Abnormal platelet volume OMIM:188000
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Abnormal B cell morphology OMIM:616911
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary... OMIM:615285
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy OMIM:616126
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Anisocytosis, Hypochromic microcytic anemia OMIM:206200
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Impaired ristocetin-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Incr... OMIM:153670
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Thrombocytopenia, Anemia OMIM:616176
Thrombocytopenia 7
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Reduce... OMIM:619130
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Hemophagocytosis, Medi... OMIM:619802
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells OMIM:618982
Heme Oxygenase 1 Deficiency
Hepatomegaly, Lymphadenopathy, Asplenia, Coombs-positive hemolytic anemia, Thrombocytosis, Cervic... OMIM:614034
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Anemia, Hepatomegaly, Anemia of inadequate production, Persistence of hemoglo... OMIM:613673
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice, Anemia, Reticulocytosis, Methemoglobinemia OMIM:613977
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center OMIM:235550
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis ORPHA:158025
Abeta Amyloidosis, Iowa Type
Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology ORPHA:324708
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Impaired platelet aggregation, Poikilocytosis, Bone marrow hypocellularity, El... OMIM:300835
Erythrocytosis, Familial, 7
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617981
Erythrocytosis, Familial, 6
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617980
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Familial Afibrinogenemia
Abnormal bleeding, Gingival bleeding, Epistaxis, Cerebral hemorrhage, Joint swelling ORPHA:98880
Immunodeficiency 21
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu... OMIM:614172
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid... OMIM:237800
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit OMIM:609820
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Hypochromia, Anemia, Decreased mean corpuscular volume OMIM:205950
Sickle Cell Anemia
Chronic hemolytic anemia, Jaundice, Iron deficiency anemia, Cholelithiasis, Increased mean corpus... ORPHA:232
Adult Idiopathic Neutropenia
Monocytopenia, Monocytosis, Neutropenia, Lymphopenia ORPHA:2688
Sitosterolemia 1
Chronic hemolytic anemia, Giant platelets, Anemia, Impaired platelet aggregation, Episodic hemoly... OMIM:210250
Immunodeficiency 92
Hepatomegaly, Cholangitis, Sclerosing cholangitis, Decreased proportion of class-switched memory ... OMIM:619652
Congenital Atransferrinemia
Anemia, Abnormality of the pancreas ORPHA:1195
Immunodeficiency 52
Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ... OMIM:617514
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Acute Myelomonocytic Leukemia
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis ORPHA:517
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Abnormal B cell count OMIM:613495
Congenital Factor Ii Deficiency
Prolonged prothrombin time, Abnormal bleeding, Cephalohematoma, Excessive bleeding from superfici... ORPHA:325
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Lymphopenia ORPHA:169079
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia OMIM:611283
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Pelger-Huet Anomaly
Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Abnormality of neutroph... OMIM:169400
Bone Marrow Failure Syndrome 2
Bone marrow hypocellularity, Thrombocytopenia, Anemia, Leukopenia OMIM:615715
Immunodeficiency 32B
Hepatomegaly, Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, ... OMIM:226990
Congenital Factor Vii Deficiency
Prolonged prothrombin time, Gastrointestinal hemorrhage, Post-partum hemorrhage, Gingival bleedin... ORPHA:327
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Increased RBC distribution width, Megaloblastic anemia, Megalo... OMIM:261000
Immunodeficiency 24
Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... OMIM:615897
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia OMIM:183350
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Neutrophilia, Thrombocytopenia, Hepatosplenomega... OMIM:619644
Afibrinogenemia, Congenital
Hematemesis, Abnormal bleeding, Epidural hemorrhage, Gingival bleeding, Prolonged bleeding follow... OMIM:202400
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612563
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... OMIM:616216
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Decrease... OMIM:615559
Hemophagocytic Lymphohistiocytosis, Familial, 4
Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly... OMIM:603552
Nephronophthisis
Anemia ORPHA:655
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Increased mean platelet volume, Thrombocytopenia OMIM:300048
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly OMIM:607616
Benign Cephalic Histiocytosis
Histiocytosis ORPHA:157997
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Splenomegaly, Abnormal B cell count ORPHA:100024
Immunodeficiency 112
Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell... OMIM:620449
Factor X Deficiency
Prolonged prothrombin time, Gingival bleeding, Menorrhagia, Joint hemorrhage, Epistaxis, Intracra... OMIM:227600
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i... OMIM:603909
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Histiocytosis, Familial Lipochrome
Histiocytosis OMIM:235900
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Chromosome 5Q Deletion Syndrome
Anemia of inadequate production, Erythroid hypoplasia, Refractory macrocytic anemia OMIM:153550
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Anemia, Leukemia, Neutropenia OMIM:614082
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Bone marrow hypocellulari... OMIM:618849
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly OMIM:206400
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Reduced erythrocyte gamma-glutamyl cysteine synthetase activity, Hemolytic anemia, Reticulocytosis OMIM:230450
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Vascular dilatation, Ventricular arrhythmia, Impaired myocardial contra... OMIM:600884
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi... ORPHA:169154
Immunodeficiency 75 With Lymphoproliferation
Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch... OMIM:619126
Erythrocytosis, Familial, 2
Increased red blood cell mass, Stroke, Hypotension, Pulmonary arterial hypertension, Increased ci... OMIM:263400
Congenital Alpha2-Antiplasmin Deficiency
Abnormal bleeding, Gingival bleeding, Abnormal umbilical stump bleeding, Joint hemorrhage, Intrac... ORPHA:79
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Rh-Null, Amorph Type
Stomatocytosis, Anisocytosis, Hemolytic anemia, Reticulocytosis OMIM:617970
Thrombocytopenia 9
Thrombocytopenia, Abnormal platelet aggregation OMIM:620478
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei OMIM:310350
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Increased mean corpuscular volume, Poikilocytosis, Anisocytosis, Abnormal erythrocyte mor... ORPHA:98870
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Rhizomelia, Thrombocytopenia OMIM:166990
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Anemia, Iron deficiency anemia, Intestinal lymphangiectasia, Ascites, Thrombocytosis OMIM:226300
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology OMIM:615617
Von Willebrand Disease, Platelet-Type
Intermittent thrombocytopenia OMIM:177820
Pyknoachondrogenesis
Stillbirth OMIM:265880
Tempi Syndrome
Polycythemia, Ascites, Increased hematocrit ORPHA:284227
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia,... ORPHA:486
Cerebral Amyloid Angiopathy, App-Related
Cerebellar hemorrhage, Stroke, Tortuous cerebral arteries, Cerebral ischemia, Recurrent cerebral ... OMIM:605714
Acute Erythroid Leukemia
Anemia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocellularity, Leukopenia ORPHA:318
Spastic Paraplegia And Evans Syndrome
Autoimmune thrombocytopenia, Coombs-positive hemolytic anemia OMIM:601608
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Immunodeficiency 116
Absence of CD8-positive T cells OMIM:608957
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ... OMIM:616959
Familial Cerebral Saccular Aneurysm
Aortic root aneurysm, Hypertension, Transient ischemic attack, Aortic dissection, Subarachnoid he... ORPHA:231160
Spherocytosis, Type 5
Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia... OMIM:612690
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Reduced erythrocyte adenylate kinase activity, Hemolytic anemia OMIM:612631
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormal platelet function, Splenomegaly, Acute mye... ORPHA:2585
Rh Deficiency Syndrome
Jaundice, Macrocytic anemia, Hypochromia, Spherocytosis, Reticulocytosis, Anisocytosis, Hepatospl... ORPHA:71275
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia OMIM:620044
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies OMIM:140700
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Hepatomegaly, Splenomegaly OMIM:606445
Preeclampsia/Eclampsia 1
Intrauterine growth retardation, Thrombocytopenia OMIM:189800
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Abnormal lymph node mo... ORPHA:911
Sting-Associated Vasculopathy, Infantile-Onset
Anemia, Paratracheal lymphadenopathy, Leukopenia, Lymphopenia, Thrombocytosis, Follicular hyperpl... OMIM:615934
Refractory Anemia
Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Anemia of inadeq... ORPHA:98826
Abcd Syndrome
Polycythemia OMIM:600501
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly OMIM:273680
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Kerion Celsi
Recurrent cutaneous abscess formation, Lymphadenopathy ORPHA:499
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Abnormality of the tonsils, Decreased proportion of... OMIM:611926
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Purpura, Excessive bleeding from superficial cuts, Gingival bleeding... OMIM:273800
Diamond-Blackfan Anemia 9
Anemia OMIM:613308
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia OMIM:618852
Crimean-Congo Hemorrhagic Fever
Hematemesis, Spontaneous hematomas, Bradycardia, Hypertension, Ascites, Epistaxis, Splenomegaly, ... ORPHA:99827
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia OMIM:619523
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,... OMIM:212050
Fetal And Neonatal Alloimmune Thrombocytopenia
Spontaneous hematomas, Purpura, Abnormal bleeding, Gastrointestinal hemorrhage, Melena, Cephalohe... ORPHA:853
Immunodeficiency 76
Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia OMIM:619164
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t... OMIM:615513
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Hypoplasia of the ... OMIM:619313
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly OMIM:224100
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Impaired platelet aggregation, Thrombocytopenia OMIM:124900
Dengue Fever
Gastrointestinal hemorrhage, Hepatomegaly, Petechiae, Gingival bleeding, Hypotension, Ascites, Ep... ORPHA:99828
Hemophilia B
Cephalohematoma, Spontaneous, recurrent epistaxis, Delayed onset bleeding, Joint hemorrhage, Intr... ORPHA:98879
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Glutamate-Cysteine Ligase Deficiency
Jaundice, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis ORPHA:33574
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:300946
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Hemophagocytosis, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly OMIM:613101
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Pancreatic Cancer, Susceptibility To, 5
Pancreatic adenocarcinoma, Melanoma OMIM:618680
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypersplenism OMIM:610539
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia, Ascites ORPHA:295
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Immunodeficiency 11A
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells OMIM:615206
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612126
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:300448
Diamond-Blackfan Anemia 16
Anemia OMIM:617408
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemia... OMIM:258900
Polycythemia Vera
Acute leukemia, Hepatomegaly, Leukocytosis, Portal hypertension, Portal vein thrombosis, Polycyth... ORPHA:729
Combined Deficiency Of Factor V And Factor Viii
Prolonged prothrombin time, Gastrointestinal hemorrhage, Gingival bleeding, Prolonged bleeding fo... ORPHA:35909
Hypermanganesemia With Dystonia 1
Polycythemia, Hepatomegaly, Cirrhosis OMIM:613280
Alpha-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly ORPHA:100025
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Aneurysm Of Interventricular Septum
Abnormal ventricular septum morphology, Vascular dilatation OMIM:105805
Malaria
Thrombocytopenia, Anemia ORPHA:673
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Coombs-posi... OMIM:619375
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Anisocytosis, Hepatomegaly OMIM:604273
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Platelet anisocytosis, Increased mean platelet volume, Thrombocytopenia OMIM:620475
Beta-Thalassemia
Hepatomegaly, Anemia, Cholelithiasis, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Hepati... ORPHA:848
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos... ORPHA:846
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Leukocyt... OMIM:243150
Ataxia-Pancytopenia Syndrome
Anemia, Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Hypoplastic anemia, Neutro... OMIM:159550
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Neutropenia in presence o... OMIM:619220
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Immunodeficiency 104
Lymphadenopathy, Hepatomegaly, Splenomegaly, T lymphocytopenia OMIM:608971
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Hepatomegaly, Myeloproliferative disorder, Splenomegaly OMIM:607685
Aicardi-Goutieres Syndrome 6
Hepatomegaly, Thrombocytopenia, Splenomegaly, Hemolytic anemia OMIM:615010
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Anemia, Abnormal lymph node morphology, Leukocytosis, Abnormality of thrombocytes, ... OMIM:612840
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Sneddon Syndrome
Ischemic stroke, Stroke, Hypertension, Cerebral hemorrhage, Lymphopenia, Bicuspid aortic valve OMIM:182410
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermittent thrombocytopenia, Splenomegaly, Abs... OMIM:150550
Glutathione Peroxidase Deficiency
Compensated hemolytic anemia, Heinz bodies OMIM:614164
Fibronectin Glomerulopathy
Hypertension, Cerebral hemorrhage, Pedal edema ORPHA:84090
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, Atopic dermatitis, T lymphocytopenia, Recur... OMIM:618806
Severe Hemophilia A
Gastrointestinal hemorrhage, Cephalohematoma, Epidural hemorrhage, Subdural hemorrhage, Prolonged... ORPHA:169802
Gray Platelet Syndrome
Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly ORPHA:721
Overhydrated Hereditary Stomatocytosis
Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja... OMIM:185000
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Immunodeficiency 46
Anemia, Intermittent thrombocytopenia, Neutropenia OMIM:616740
Dominant Beta-Thalassemia
Cirrhosis, Jaundice, Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concent... ORPHA:231226
Schnitzler Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Splenomegaly ORPHA:37748
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Anemia OMIM:610090
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Thrombocytopenia, Impaired epinephrine-induced pl... OMIM:173590
Periventricular Nodular Heterotopia 1
Bicuspid aortic valve, Stroke, Cerebral hemorrhage, Patent ductus arteriosus OMIM:300049
Bone Marrow Failure Syndrome 4
Bone marrow hypocellularity, Thrombocytopenia, Anemia, Leukopenia OMIM:618116
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, T lymphocytopenia OMIM:233650
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Leukopenia, Hepatosplenomegaly... OMIM:618986
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased pr... OMIM:619846
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Perianal abscess, Hepatomegaly, Anemia, Erythroid hypoplasia, Hypoplasia of the thymus, Leukopeni... OMIM:612541
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:615085
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Hepatomegaly, Leukocytosis, Neutrophilia, Splenomegaly, Autoimmune t... OMIM:620565
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy OMIM:618987
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp... OMIM:603554
Familial Thrombocytosis
Thrombocytosis, Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia ORPHA:71493
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat... OMIM:618534
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia OMIM:616738
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Anemia OMIM:618728
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Prolonged prothrombin time, Abnormal bleeding, Elevated circulating hepatic transaminase concentr... OMIM:277450
Immunodeficiency 9
Abnormal natural killer cell count, Hypoplasia of the thymus, Failure to thrive, Decreased circul... OMIM:612782
Storage Pool Platelet Disease
Acute leukemia, Decreased mean platelet volume OMIM:185050
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
1P31P32 Microdeletion Syndrome
Moyamoya phenomenon, Intraventricular hemorrhage ORPHA:401986
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Thrombocytosis, Iron deficiency anemia, Lymphocytosis, Decreased proportion of ... OMIM:301074
Hydrops Fetalis, Nonimmune
Anemia OMIM:236750
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 9
Leukopenia, Leukemia OMIM:620400
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant... OMIM:601859
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Abnormal B cell morpho... OMIM:615607
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Jaundice, Hepatomegaly, Pancytopenia, Increased mean corpuscular volume, Megaloblastic anemia, Th... OMIM:613839
Stormorken-Sjaastad-Langslet Syndrome
Abnormality of thrombocytes, Anemia, Asplenia ORPHA:3204
Immunodeficiency 102
Hepatomegaly, Anemia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, De... OMIM:301082
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Abnormal lymphocyte count, Abnormal B cell count, L... OMIM:615615
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Pancytopenia, B lymphocytopenia, Increased proportion of effector memory CD8-positive, al... OMIM:619824
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Lymphadenopathy, Decreased proportion of CD4-positive helper T cells... OMIM:300853
Glutathione Synthetase Deficiency
Hemolytic anemia ORPHA:32
Vein Of Galen Aneurysmal Malformation
Peripheral arteriovenous fistula, Vascular dilatation, Abnormal cerebral vascular morphology ORPHA:1053
Wyburn-Mason Syndrome
Vascular dilatation, Arteriovenous malformation, Peripheral arteriovenous fistula, Gingival bleed... ORPHA:53719
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Anemia, Hypochromic microcytic anemia, Howell-Jolly bodies, Poikilocytosis, Sideroblastic anemia,... OMIM:301310
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Pancreatic Cancer, Susceptibility To, 1
Pancreatic adenocarcinoma OMIM:606856
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni... OMIM:613011
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Neutropenia, Absent circulating B cells OMIM:613501
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Hepatomegaly, Microvesicular hepatic steatosis, Leukocytosis, Reticuloc... OMIM:618278
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
Immunodeficiency 50
Neutropenia, Lymphopenia OMIM:300988
Familial Hypofibrinogenemia
Abnormal bleeding, Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage ORPHA:101041
Familial Dysfibrinogenemia
Abnormal bleeding, Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage ORPHA:98881
Coronary Arterial Fistula
Aortic valve stenosis, Abnormal heart morphology, Bicuspid aortic valve, Cardiomegaly, Right vent... ORPHA:2041
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Ischemic stroke, Stroke, Hypertension, Transient ischemic attack, Cerebral ischemia, Cerebral hem... ORPHA:136
Protoporphyria, Erythropoietic, 2
Iron deficiency anemia OMIM:618015
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Pancreatic Cancer, Susceptibility To, 2
Neoplasm of the pancreas OMIM:613347
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia OMIM:616941
Immunodeficiency 109 With Lymphoproliferation
Generalized lymphadenopathy, Absent circulating B cells, Splenomegaly, Pancytopenia OMIM:620282
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Leishmaniasis
Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Abnormal macrophage morphology, Leukopenia, ... ORPHA:507
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Reticular Dysgenesis
Aplasia/Hypoplasia of the thymus, Abnormality of neutrophils, Anemia, Leukopenia ORPHA:33355
Bilateral Striopallidodentate Calcinosis
Intrauterine growth retardation, Thrombocytopenia ORPHA:1980
Autoerythrocyte Sensitization Syndrome
Autoimmune thrombocytopenia, Thrombocytosis, Abnormal erythrocyte morphology, Impaired platelet a... ORPHA:324636
Griscelli Syndrome, Type 2
Hepatosplenomegaly, Hemophagocytosis OMIM:607624
Cogan Syndrome
Thrombocytosis, Anemia, Leukocytosis ORPHA:1467
Fanconi Anemia, Complementation Group T
Anemia, Acute myeloid leukemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:616435
Methylmalonic Acidemia With Homocystinuria Type Cblf
Reduced number of intrahepatic bile ducts, Megaloblastic anemia, Abnormal heart morphology, Intra... ORPHA:79284
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Anemia, Splenomegaly, Hepatic fibrosis OMIM:613313
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Leukocytosis, Portal hypertension, Bone marr... OMIM:615688
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia... OMIM:235700
Interstitial Lung And Liver Disease
Cirrhosis, Hepatomegaly, Anemia, Cholestasis, Hepatic fibrosis, Thrombocytosis, Hepatic steatosis OMIM:615486
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ... OMIM:301078
Immunodeficiency 62
B lymphocytopenia, Autoimmune thrombocytopenia, Increased proportion of transitional B cells, Dec... OMIM:618459
Bernard-Soulier Syndrome
Macrothrombocytopenia, Giant platelets, Decreased platelet glycoprotein Ib-IX-V, Impaired ristoce... ORPHA:274
Familial Atrial Myxoma
Congestive heart failure, Dilatation of the cerebral artery, Vascular dilatation, Bacterial endoc... ORPHA:615
Livedoid Vasculopathy
Polycythemia, Anemia, Leukocytosis, Pancytopenia ORPHA:542643
T-Cell Immunodeficiency With Thymic Aplasia
Reduced delayed hypersensitivity, Aplasia of the thymus, T lymphocytopenia, Failure to thrive, He... OMIM:242700
Young Syndrome
Bronchiectasis, Recurrent bronchitis, Recurrent sinopulmonary infections, Congenital pulmonary ai... OMIM:279000
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Bronchiectasis, Chronic bronchitis OMIM:613071
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly OMIM:611490
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Increased circulating IgE level, Lack of T cell function, T lymphocytopenia, F... ORPHA:277
Kimura Disease
Follicular hyperplasia, Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy ORPHA:482
Forsythe-Wakeling Syndrome
Growth delay, Thrombocytopenia, Short stature OMIM:613606
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated hepatic iron co... OMIM:615234
Harderoporphyria
Hepatomegaly, Reticulocytosis, Prolonged neonatal jaundice, Splenomegaly, Hemolytic anemia OMIM:618892
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Cryohydrocytosis
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:185020
Familial Pseudohyperkalemia
Increased mean corpuscular volume, Stomatocytosis, Reticulocytosis, Episodic hemolytic anemia ORPHA:90044
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Perianal abscess, Thrombocytosis, Leukocytosis, Hypochromic anemia OMIM:618213
Ziegler-Huang Syndrome
Bone marrow hypocellularity, Persistence of hemoglobin F, Macrocytic anemia, Neutropenia OMIM:620501
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Anemia, Increased mean corpuscular volume, Ascites, Sideroblastic anemia, Thrombocytopenia, Eryth... OMIM:617021
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Babesiosis
Jaundice, Hepatomegaly, Thrombocytopenia, Leukopenia, Splenomegaly, Hemolytic anemia ORPHA:108
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Telangiectasia, Hereditary Benign
Diffuse telangiectasia, Vascular dilatation OMIM:187260
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Plasmacytosis, Lymphopenia, Pneumonia, Glomerulonephritis OMIM:247800
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione reductase activity OMIM:618660
Isolated Agammaglobulinemia
Anemia, Abnormality of the tonsils, Abnormality of the lymphatic system, Abnormal lymphocyte morp... ORPHA:229717
Immunodeficiency 115 With Autoinflammation
Intestinal lymphangiectasia, Anemia, T lymphocytopenia, Decreased proportion of memory T cells, S... OMIM:620632
Syndromic Diarrhea
Cirrhosis, Hepatomegaly, Hypoplasia of the thymus, Increased mean platelet volume, Abnormality of... ORPHA:84064
Poems Syndrome
Hepatomegaly, Lymphadenopathy, Visceromegaly, Ascites, Polycythemia, Splenomegaly, Thrombocytosis ORPHA:2905
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia OMIM:273900
Amed Syndrome, Digenic
Anemia, Acute myeloid leukemia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia OMIM:619151
Cinca Syndrome
Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Eosinophilia OMIM:607115
Brain Small Vessel Disease 2
Intracranial hemorrhage OMIM:614483
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly OMIM:617441
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Pancreatitis, Anemia, Thrombocytopenia, Splenomegaly, Neutropenia ORPHA:79312
3-Hydroxy-3-Methylglutaric Aciduria
Jaundice, Anemia, Hepatomegaly, Acute pancreatitis, Leukocytosis, Leukopenia, Thrombocytosis, Lip... ORPHA:20
Anemia, Hypochromic Microcytic, With Iron Overload 1
Anemia, Hypochromia, Elevated hepatic iron concentration, Decreased mean corpuscular volume, Eryt... OMIM:206100
Dohle Bodies And Leukemia
Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies OMIM:223350
Immunodeficiency 7
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut... OMIM:615387
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Anemia, Hemophagocytosis, Pancytopenia OMIM:618398
Hemolytic Anemia With Thermal Sensitivity Of Red Cells
Congenital hemolytic anemia OMIM:235370
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain
Compensated hemolytic anemia OMIM:142309
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane
Nonspherocytic hemolytic anemia OMIM:206300
Phosphoglycerate Kinase 1 Deficiency
Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis OMIM:300653
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r... OMIM:620367
Dural Sinus Malformation
Cerebellar hemorrhage, Vascular dilatation, Abnormal facial vein morphology, Arteriovenous fistul... ORPHA:97339
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematemesis, Abnormal vascular morphology, Gastrointestinal hemorrhage, Vitreous hemorrhage, Musc... ORPHA:464321
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Anemia, Splenomegaly OMIM:618107
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Petechiae, Anemia of inadequate production, Poikilocytosis, Epistaxis, Persistent bleeding after ... OMIM:300367
Porphyria, Acute Hepatic
Hemolytic anemia OMIM:612740
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Megaloblastic anemia OMIM:243320
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Decreased CD4:CD8 ratio OMIM:618495
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, Fu... OMIM:308240
Bleeding Disorder, Platelet-Type, 22
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Thromb... OMIM:618462
Fibrodysplasia Ossificans Progressiva
Anemia ORPHA:337
Congenital Toxoplasmosis
Jaundice, Anemia, Hepatomegaly, Lymphadenopathy, Ascites, Thrombocytopenia, Cardiomegaly ORPHA:858
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Hepatomegaly, Choleli... OMIM:266200
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Moyamoya phenomenon, Ischemic stroke, Coronary artery atherosclerosis, Hypertension, Cerebral hem... ORPHA:280679
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:620481
Spherocytosis, Type 4
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612653
Pseudo-Torch Syndrome 2
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Bradycardia, Petechiae, Pl... OMIM:617397
Generalized Eruptive Histiocytosis
Hypereosinophilia, Histiocytosis, Leukemia ORPHA:157991
Diamond-Blackfan Anemia 20
Anemia, Erythroid hypoplasia OMIM:618313
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly ORPHA:158029
Immunodeficiency, Common Variable, 13
B lymphocytopenia, Acute lymphoblastic leukemia, Pancytopenia OMIM:616873
Hemochromatosis, Type 3
Cirrhosis, Neutropenia, Anemia, Lymphopenia OMIM:604250
Beta-Ketothiolase Deficiency
Thrombocytosis, Leukocytosis, Hepatomegaly ORPHA:134
Melanoma-Pancreatic Cancer Syndrome
Squamous cell carcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Sarcoma, Pancreatic ade... OMIM:606719
Thrombocytopenia 10
Decreased mean platelet volume, Thrombocytopenia OMIM:620484
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Hepatomegaly, Vascular dilatation, Polycystic liver disease, Abnorma... ORPHA:2924
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To
Hemolytic anemia OMIM:231900
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Ascites, Anemia, Splenomegaly ORPHA:1046
Intermediate Generalized Junctional Epidermolysis Bullosa
Anemia ORPHA:79402
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Anemia ORPHA:28
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Panhypogammaglobulinemia, Aplasia of the thymus, B lymphocytopenia, Increased circulating IgE lev... OMIM:602450
Transaldolase Deficiency
Thrombocytopenia, Anemia, Hepatosplenomegaly, Cirrhosis ORPHA:101028
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog... ORPHA:100026
Immunodeficiency 96
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells OMIM:619774
Fanconi Anemia, Complementation Group V
Bone marrow hypocellularity, Thrombocytopenia, Anemia, Neutropenia OMIM:617243
Congenital Disorder Of Glycosylation, Type Iig
Thrombocytopenia, Giant platelets, Anemia, Left ventricular hypertrophy OMIM:611209
Takayasu Arteritis
Abnormal endocardium morphology, Abnormal aortic valve morphology, Anemia, Vascular dilatation, V... ORPHA:3287
Atransferrinemia
Abnormality of the liver, Hypochromic anemia OMIM:209300
Spherocytosis, Type 2
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia OMIM:616649
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Anemia ORPHA:371
Mitochondrial Myopathy And Sideroblastic Anemia
Anemia ORPHA:2598
Vascular Hyalinosis
Subarachnoid hemorrhage, Vascular dilatation, Hematochezia OMIM:277175
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Hepatocellular carcinoma, Acute l... ORPHA:158057
Diamond-Blackfan Anemia
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... ORPHA:124
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Abnormal B cell count, Decreased proportion of class-switched memory B cells OMIM:613493
Glutamate Formiminotransferase Deficiency
Megaloblastic anemia, Hypersegmentation of neutrophil nuclei OMIM:229100
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphadenopathy, Lymphocytosis, Decreased mean platelet volume, Thrombocytopenia, Cervical lympha... OMIM:617718
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Intrauterine growth retardation, Pancytopenia OMIM:600546
Immunodeficiency 114, Folate-Responsive
Hepatomegaly, Megaloblastic anemia, Thrombocytopenia, Splenomegaly, Lymphopenia OMIM:620603
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Reduced erythrocyte adenosine triphosphate concentration, Reticulocytosis, Erythroid hyperplasia,... OMIM:301083
Methanol Poisoning
Hypertension, Permanent atrial fibrillation, Inflammatory arteriopathy, Cerebral hemorrhage, Intr... ORPHA:31825
Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia OMIM:607785
Formiminoglutamic Aciduria
Megaloblastic anemia, Anemia ORPHA:51208
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Abnormal lymph node morphology, Anemia, Abnormality of the lymphatic system, Neutr... ORPHA:54251
Mitochondrial Trifunctional Protein Deficiency 2
Hypotension, Elevated circulating alanine aminotransferase concentration, Tricuspid regurgitation... OMIM:620300
Acquired Von Willebrand Syndrome
Prolonged prothrombin time, Normocytic anemia, Gastrointestinal hemorrhage, Aortic regurgitation,... ORPHA:99147
Immunodeficiency 13
B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lympho... OMIM:615518
Autoinflammation With Infantile Enterocolitis
Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Reduced natural killer cell count OMIM:616050
Diamond-Blackfan Anemia 4
Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia, Neutropenia OMIM:612527
Spherocytosis, Type 1
Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:182900
Mounier-Kühn Syndrome
Pneumonia, Bronchitis, Recurrent respiratory infections, Recurrent bronchopulmonary infections ORPHA:3347
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Absent circulating B cells OMIM:613500
Majeed Syndrome
Anemia of inadequate production, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid... OMIM:609628
Trichohepatoenteric Syndrome 1
Cirrhosis, Jaundice, Hepatomegaly, Cholestasis, Increased mean platelet volume, Splenomegaly, Hep... OMIM:222470
Leukoencephalopathy With Calcifications And Cysts
Stroke, Cerebral hemorrhage ORPHA:542310
Multicentric Reticulohistiocytosis
Histiocytosis ORPHA:139436
Wolman Disease
Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Splenomegaly ORPHA:75233
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Hepatomegaly, Anemia, Ascites ORPHA:2123
Celiac Disease, Susceptibility To, 1
Thrombocytosis, Iron deficiency anemia, Macrocytic anemia OMIM:212750
Immunodeficiency 32A
Granuloma, Lymphadenitis, Lymphadenopathy OMIM:614893
Acquired Aneurysmal Subarachnoid Hemorrhage
Congestive heart failure, Ischemic stroke, Prolonged QTc interval, Hypertension, Cerebral ischemi... ORPHA:90065
Sneddon Syndrome
Hypertension, Intracranial hemorrhage, Arterial stenosis ORPHA:820
Immunodeficiency, Common Variable, 1
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt... OMIM:607594
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Pancreatitis, Anemia, Thrombocytopenia, Neutropenia ORPHA:289916
Aregenerative Anemia
Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,... ORPHA:101096
Idiopathic Hypereosinophilic Syndrome
Anemia, Portal fibrosis, Cholangitis, Generalized lymphadenopathy, Pancreatitis, Myeloproliferati... ORPHA:3260
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Thrombocytopenia, Reticulocytosis ORPHA:54057
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Beta-Thalassemia