Gene: Npm1 MGI:106184

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

nucleophosmin 1

Synonyms:

NO38, nucleolar protein NO38, B23

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Npm1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Npm1 (3 diseases)
Human diseases predicted to be associated with Npm1 (805 diseases)

The table below shows human diseases associated to Npm1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Acute Promyelocytic Leukemia	Pancytopenia, Leukocytosis, Lymphadenopathy, Anemia, Leukopenia, Neutropenia, Thrombocytopenia	ORPHA:520
Dyskeratosis Congenita	Neoplasm of the pancreas, Hepatomegaly, Abnormality of neutrophils, Thrombocytopenia, Splenomegal...	ORPHA:1775
Leukemia, Acute Myeloid	Acute myeloid leukemia	OMIM:601626

The table below shows human diseases predicted to be associated to Npm1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia...	OMIM:614470
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Fetal Cytomegalovirus Syndrome	Splenomegaly, Anemia, Hepatomegaly	ORPHA:294
Thrombocythemia 3	Thrombocytosis	OMIM:614521
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Thrombocythemia 2	Thrombocytosis	OMIM:601977
Juvenile Arthritis	Thrombocytosis, Leukocytosis	OMIM:618795
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ...	ORPHA:75564
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia	OMIM:205950
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity	OMIM:616871
Dysplasia Of Head Of Femur, Meyer Type	Leukocytosis, Enlarged tonsils	ORPHA:168621
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Enlarged mesenteric lymph node, ...	OMIM:209950
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro...	ORPHA:86841
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia	OMIM:612527
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Abnormality of thrombocytes, Splenomegaly, Leukocytos...	OMIM:612840
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Diamond-Blackfan Anemia 12	Macrocytic anemia, Reticulocytopenia, Normochromic anemia	OMIM:615550
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery...	OMIM:615631
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Microcytic anemia, Hepatosplenomegaly, Thrombocytosis, Sterile abscess	OMIM:604416
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Diamond-Blackfan Anemia 5	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Leukopenia	OMIM:612528
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ...	ORPHA:824
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Anemia, Bone marrow hypocellularity, Chro...	OMIM:616435
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple...	ORPHA:232
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Intrinsic Factor Deficiency	Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio...	OMIM:261000
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis	OMIM:206200
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Immunodeficiency 15B	Monocytosis, Reduced natural killer cell count	OMIM:615592
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly	ORPHA:46532
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias	OMIM:620044
Fanconi Anemia, Complementation Group G	Abnormality of chromosome stability, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:614082
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Thrombocytopenia	ORPHA:88
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Lymphocytosis, Hepatomegaly	OMIM:606445
Eosinophil Peroxidase Deficiency	Eosinophil nuclear hypersegmentation	OMIM:261500
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Thrombocy...	OMIM:617780
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly	OMIM:607685
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Leukocytosis, Anemia	OMIM:619398
Fanconi Anemia, Complementation Group V	Chromosomal breakage induced by crosslinking agents, Thrombocytopenia, Bone marrow hypocellularit...	OMIM:617243
Immunodeficiency 88	Eosinophilia	OMIM:619630
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Hernia, Anterior Diaphragmatic	Neonatal death	OMIM:306950
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Diamond-Blackfan Anemia 19	Erythroid hypoplasia, Steroid-responsive anemia, Anemia	OMIM:618312
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia	ORPHA:2688
Acute Myelomonocytic Leukemia	Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia	ORPHA:517
Trimethylaminuria	Splenomegaly, Anemia, Neutropenia	OMIM:602079
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decreased mean corpuscular volume, Dy...	ORPHA:300298
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid hype...	OMIM:616860
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, Coombs-posit...	OMIM:614034
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis	OMIM:269600
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ...	ORPHA:101096
Familial Pseudohyperkalemia	Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume	ORPHA:90044
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocyt...	OMIM:226990
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut...	OMIM:618849
Myeloproliferative Disorder, Chronic, With Eosinophilia	Eosinophilia, Myeloproliferative disorder	OMIM:131440
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Neutrophilia, Hepatosplenomegaly, Lymphadenopathy, Monocytosis, Hemophagocytosis, T...	OMIM:619644
Immunodeficiency 92	Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S...	OMIM:619652
Ichthyosis-Prematurity Syndrome	Eosinophilia	ORPHA:88621
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death	OMIM:226735
Fanconi Anemia, Complementation Group E	Pancytopenia, Chromosomal breakage induced by crosslinking agents, Reticulocytopenia, Anemia, Neu...	OMIM:600901
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, S...	OMIM:224120
Reticuloendotheliosis, X-Linked	Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly	OMIM:312500
Lethal Congenital Contracture Syndrome 3	Neonatal death	OMIM:611369
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Idiopathic Acute Eosinophilic Pneumonia	Abnormal eosinophil morphology	ORPHA:724
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Fanconi Anemia, Complementation Group A	Pancytopenia, Chromosomal breakage induced by crosslinking agents, Reticulocytopenia, Anemia, Neu...	OMIM:227650
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Anemia, Hypochromic Microcytic, With Iron Overload 1	Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia	OMIM:206100
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Transient Erythroblastopenia Of Childhood	Transient erythroblastopenia, Anemia	OMIM:227050
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity	Abnormality of chromosome stability, Pancytopenia	OMIM:600546
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,...	ORPHA:98870
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega...	ORPHA:3202
Pyknoachondrogenesis	Stillbirth	OMIM:265880
Eosinophilopenia	Decreased eosinophil count	OMIM:131430
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Nevoid Hypermelanosis, Linear And Whorled	Eosinophilia	OMIM:614323
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,...	ORPHA:486
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ...	ORPHA:231222
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr...	OMIM:603552
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Transcobalamin Ii Deficiency	Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia	OMIM:275350
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno...	ORPHA:822
Gray Platelet Syndrome	Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia	ORPHA:721
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Fanconi Anemia, Complementation Group C	Pancytopenia, Chromosomal breakage induced by crosslinking agents, Reticulocytopenia, Anemia, Bon...	OMIM:227645
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo...	OMIM:300908
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly	OMIM:608898
Generalized Eruptive Histiocytosis	Leukemia, Hypereosinophilia, Lymphadenopathy, Histiocytosis	ORPHA:157991
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ...	OMIM:212050
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Niemann-Pick Disease, Type B	Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia	OMIM:607616
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia	OMIM:613839
Immunodeficiency 104	Splenomegaly, Lymphadenopathy, T lymphocytopenia, Hepatomegaly	OMIM:608971
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volume	OMIM:185000
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:259710
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Transcobalamin Deficiency	Abnormality of chromosome stability, Pancytopenia, Neutropenia, Lymphopenia, Thrombocytopenia	ORPHA:859
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Kimura Disease	Lymphadenopathy, Eosinophilia, Follicular hyperplasia	ORPHA:482
Fanconi Anemia, Complementation Group D1	Acute myeloid leukemia, T-cell acute lymphoblastic leukemias, Bone marrow hypocellularity, Chromo...	OMIM:605724
Juvenile Temporal Arteritis	Leukocytosis, Eosinophilia	ORPHA:26137
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, T lymphocyt...	OMIM:615513
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Er...	OMIM:617021
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ...	OMIM:619802
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i...	OMIM:619220
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia	OMIM:616959
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia	ORPHA:2582
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia	ORPHA:100024
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly	OMIM:619175
Orotic Aciduria	Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi...	OMIM:258900
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Diamond-Blackfan Anemia 10	Macrocytic anemia, Steroid-responsive anemia, Reticulocytopenia, Anemia	OMIM:613309
Immunodeficiency 11A	Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells	OMIM:615206
Familial Thrombocytosis	Acute myeloid leukemia, Thrombocytosis, Chronic myelogenous leukemia, Splenomegaly	ORPHA:71493
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome...	ORPHA:71275
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocellularity, ...	ORPHA:508542
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Anemia	OMIM:613101
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Iron deficiency anemia, Thrombocytosis, Intestinal lymphangiectasia, Ascites, Anemia	OMIM:226300
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Anemia	ORPHA:1802
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, B ...	OMIM:150550
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:612561
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, Generalized lymphadenopathy, Impaired neutrophil chemotaxis, Lymphadenitis, Neutrop...	OMIM:618986
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:610539
Breath-Holding Spells	Iron deficiency anemia, Pallor	OMIM:607578
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Immunodeficiency 54	Splenomegaly, Reduced natural killer cell count, Chromosome breakage	OMIM:609981
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly	ORPHA:139406
Fanconi Anemia, Complementation Group D2	Pancytopenia, Chromosomal breakage induced by crosslinking agents, Reticulocytopenia, Anemia, Bon...	OMIM:227646
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Anemia, Sideroblastic, 1	Sideroblastic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production, Hypochro...	OMIM:300751
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A...	OMIM:601859
Aicardi-Goutieres Syndrome 6	Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly	OMIM:615010
Elliptocytosis 3	Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia	OMIM:617948
Placental Insufficiency	Intrauterine growth retardation, Abnormal umbilical cord blood vessel morphology, Abnormal placen...	ORPHA:439167
Sting-Associated Vasculopathy, Infantile-Onset	Follicular hyperplasia, Paratracheal lymphadenopathy, Leukopenia, Thrombocytosis, Lymphopenia, An...	OMIM:615934
N Syndrome	Abnormality of chromosome stability, Leukemia	OMIM:310465
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt...	OMIM:243150
Immunodeficiency 48	Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly	OMIM:269840
Bone Marrow Failure Syndrome 2	Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:615715
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Decreased methylmalonyl-CoA mutase activity, Increased mean corpuscular volume, Megaloblastic anemia	OMIM:277410
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia	ORPHA:100025
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Fanconi Anemia, Complementation Group S	Chromosome breakage, Anemia	OMIM:617883
Majeed Syndrome	Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:609628
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten...	ORPHA:124
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology	ORPHA:1164
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytop...	OMIM:612541
Eosinophilic Fasciitis	Abnormal eosinophil morphology, Eosinophilia	ORPHA:3165
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly	OMIM:259730
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Reticulocytopenia, Neutropenia, Hypoplastic...	OMIM:557000
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia	ORPHA:37748
Anemia, Hypochromic Microcytic, With Iron Overload 2	Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Hypochromia, Anemia	OMIM:615234
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly	OMIM:615085
Pyruvate Kinase Deficiency Of Red Cells	Decreased hemoglobin concentration, Reticulocytosis, Hepatomegaly, Nonimmune hydrops fetalis, Red...	OMIM:266200
Fanconi Anemia, Complementation Group R	Chromosomal breakage induced by crosslinking agents, Bone marrow hypocellularity, Anemia	OMIM:617244
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia	ORPHA:158029
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Thrombocytopenia 7	Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i...	OMIM:619130
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Anisocytosis	OMIM:604273
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom...	OMIM:619375
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti...	OMIM:300853
Immunodeficiency 109 With Lymphoproliferation	Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells	OMIM:620282
Cinca Syndrome	Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia	OMIM:607115
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Lymphadenopathy	OMIM:611762
Beta-Thalassemia Major	Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ...	ORPHA:231214
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Fetal ascites, Hepatomegaly	OMIM:619462
Fraxf Syndrome	Folate-dependent fragile site at Xq28	ORPHA:100974
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic...	OMIM:259720
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
X-Linked Sideroblastic Anemia	Splenomegaly, Anemia	ORPHA:75563
Tyrosinemia Type 1	Splenomegaly, Hepatocellular carcinoma, Hepatomegaly	ORPHA:882
Fryns Microphthalmia Syndrome	Microphthalmia, Neural tube defect, Anophthalmia	OMIM:600776
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Chromosome breakage, Pancytopenia, Aplastic anemia, Thrombocytopenia, Per...	OMIM:617052
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Jaundice, Cholestasis, Abnormal...	ORPHA:79303
Methylcobalamin Deficiency Type Cble	Macrocytic anemia, Increased mean corpuscular volume, Pancytopenia, Neutropenia	ORPHA:2169
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Leukocytosis, Hepatosplenomegaly, ...	OMIM:615688
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Hb Bart'S Hydrops Fetalis	Abnormal hemoglobin, Splenomegaly, Hydrocephalus, Pallor, Anemia	ORPHA:163596
Unclassified Myelodysplastic Syndrome	Acute myeloid leukemia, Leukocytosis, Bone marrow hypocellularity	ORPHA:98827
Acute Peripheral Arterial Occlusion	Leukocytosis	ORPHA:90064
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Glutamate-Cysteine Ligase Deficiency	Hepatosplenomegaly, Hemolytic anemia, Jaundice, Reticulocytosis	ORPHA:33574
Harderoporphyria	Hemolytic anemia, Hepatomegaly, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice	OMIM:618892
Hemochromatosis, Type 2B	Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia	OMIM:613313
Combined Saposin Deficiency	Splenomegaly, Hepatomegaly	OMIM:611721
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hemo...	OMIM:301078
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia	OMIM:611490
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Skin ulcer, Anemia...	ORPHA:848
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Increased mean corpuscular volume	OMIM:619774
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly	ORPHA:417
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hepatosplenomegaly, Hemolytic anemia, Decreased mean corpuscular volume, Reticulocytosis	OMIM:611590
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A...	OMIM:603909
Fanconi Anemia, Complementation Group J	Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking agents	OMIM:609054
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia...	ORPHA:507
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Galactose Epimerase Deficiency	Splenomegaly, Jaundice, Hepatomegaly	ORPHA:79238
Hypertriglyceridemia, Transient Infantile	Splenomegaly, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly	OMIM:614480
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Hemophagocytosis	OMIM:300635
Nijmegen Breakage Syndrome-Like Disorder	Chromosomal breakage induced by ionizing radiation	OMIM:613078
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, B lymphocytopenia, Bone marrow hypocellularity, Reduced natural killer cell count, ...	OMIM:620133
Cyclic Neutropenia	Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Peritonitis, Recurrent tonsilliti...	ORPHA:2686
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos...	ORPHA:98848
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia	OMIM:610333
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Anophthalmia, Bilateral microphthalmos	OMIM:611638
Beta-Ketothiolase Deficiency	Thrombocytosis, Leukocytosis, Hepatomegaly	ORPHA:134
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa...	ORPHA:3226
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ...	ORPHA:86839
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:610293
Interstitial Lung And Liver Disease	Hepatomegaly, Cholestasis, Hepatic fibrosis, Cirrhosis, Thrombocytosis, Hepatic steatosis, Anemia	OMIM:615486
Cogan Syndrome	Thrombocytosis, Leukocytosis, Anemia	ORPHA:1467
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal...	OMIM:613011
Sandhoff Disease	Splenomegaly, Hepatomegaly	ORPHA:796
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Immunodeficiency 42	Splenomegaly, Hypoplasia of the thymus, Hepatomegaly	OMIM:616622
Fanconi Anemia, Complementation Group P	Chromosomal breakage induced by crosslinking agents, Pancytopenia, Anemia	OMIM:613951
3-Hydroxy-3-Methylglutaric Aciduria	Hepatomegaly, Acute pancreatitis, Leukocytosis, Jaundice, Lipid accumulation in hepatocytes, Leuk...	ORPHA:20
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp...	ORPHA:169154
Galactosemia Iii	Splenomegaly, Jaundice, Hepatomegaly	OMIM:230350
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, ...	OMIM:308240
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Abnormality of thrombocytes, Splenomegaly, Jaundice, Cholestasis	ORPHA:172
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Perianal abscess, Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced natural killer c...	OMIM:301074
Gaucher Disease, Type Iii	Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatomegaly	OMIM:231000
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Bone marrow hypocellulari...	OMIM:127550
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Idiopathic Hypereosinophilic Syndrome	Neutrophilia, Generalized lymphadenopathy, Eosinophilia, Cholangitis, Thrombocytopenia, Leukocyto...	ORPHA:3260
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Splenomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia	ORPHA:79312
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia	ORPHA:79477
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Lymphadenopathy, Hepatomegaly	ORPHA:86893
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Anophthalmia, Anhydramnios, Microphthalmia	OMIM:613885
Bleeding Disorder, Platelet-Type, 16	Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat...	OMIM:187800
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia	OMIM:618398
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Microphthalmia, Syndromic 12	Neonatal death, Microphthalmia, Anophthalmia	OMIM:615524
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio	OMIM:618495
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym...	OMIM:602450
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Eosinophilia, Hepatic cysts, Hepatosplenomegaly	OMIM:618999
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean...	OMIM:618278
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Elevated hepatic transaminase, Sideroblastic anemia, Pallor, Hepatomegaly	OMIM:613561
Oculocerebrocutaneous Syndrome	Microphthalmia, Orbital encephalocele, Anophthalmia	OMIM:164180
Poems Syndrome	Lymphadenopathy, Thrombocytosis, Ascites, Polycythemia, Visceromegaly	ORPHA:2905
Babesiosis	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Leukopenia, Thrombocytopenia	ORPHA:108
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Immunodeficiency, Common Variable, 1	Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo...	OMIM:607594
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, H...	OMIM:615122
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:617068
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Anemia, Hepatomegaly	OMIM:618107
Autoerythrocyte Sensitization Syndrome	Abnormal erythrocyte morphology, Thrombocytosis, Impaired platelet adhesion, Autoimmune thrombocy...	ORPHA:324636
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites	OMIM:271500
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi...	OMIM:616278
Esophagitis, Eosinophilic, 2	Eosinophilia	OMIM:613412
Esophagitis, Eosinophilic, 1	Eosinophilia	OMIM:610247
Cholestasis, Progressive Familial Intrahepatic, 12	Splenomegaly, Jaundice, Cholestasis, Hepatomegaly	OMIM:620010
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Diamond-Blackfan Anemia 7	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612562
Fanconi Anemia, Complementation Group O	Neonatal death, Chromosome breakage	OMIM:613390
Anencephaly 2	Anophthalmia, Anencephaly	OMIM:619452
Omenn Syndrome	Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal lymphocyte morp...	ORPHA:39041
Fanconi Anemia, Complementation Group N	Aplastic anemia, Chromosomal breakage induced by crosslinking agents	OMIM:610832
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat...	OMIM:619463
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hepatocellular carcinoma, Thrombocytopenia, Splenomegaly, H...	ORPHA:158057
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Intrauterine growth retardation, Severe intrauterine growth retardation, Small placenta	ORPHA:73272
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Perianal abscess, Thrombocytosis, Leukocytosis, Hypochromic anemia	OMIM:618213
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Syndromic Diarrhea	Hepatomegaly, Increased mean platelet volume, Splenomegaly, Abnormality of the liver, Hypoplasia ...	ORPHA:84064
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Splenomegaly, Ascites, Anemia	ORPHA:1046
Wells Syndrome	Eosinophilia	ORPHA:901
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph...	ORPHA:331206
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Essential Thrombocythemia	Splenomegaly, Abnormality of thrombocytes, Abnormal platelet morphology, Acute leukemia	ORPHA:3318
Fgfr2-Related Bent Bone Dysplasia	Extramedullary hematopoiesis, Hepatosplenomegaly	ORPHA:313855
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Anemia	ORPHA:75233
Classic Mycosis Fungoides	Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly	ORPHA:2584
Celiac Disease, Susceptibility To, 1	Iron deficiency anemia, Macrocytic anemia, Thrombocytosis	OMIM:212750
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis,...	ORPHA:86843
Aggressive Systemic Mastocytosis	Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomeg...	ORPHA:98850
Silver-Russell Syndrome Due To A Point Mutation	Intrauterine growth retardation, Small placenta, Oligohydramnios	ORPHA:397590
Trichohepatoenteric Syndrome 1	Hepatomegaly, Increased mean platelet volume, Splenomegaly, Abnormality of the pancreas, Jaundice...	OMIM:222470
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Splenomegaly, Leukopenia, Lymphopenia, Hepatomegaly	OMIM:620210
Scleroderma, Familial Progressive	Chromosome breakage, Abnormality of chromosome stability	OMIM:181750
Brucellosis	Hepatomegaly, Liver abscess, Lung abscess, Hypersplenism, Thrombocytopenia, Leukocytosis, Splenom...	ORPHA:1304
Congenital Bile Acid Synthesis Defect Type 1	Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Neonatal cholestatic ...	ORPHA:79301
Cold Agglutinin Disease	Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly	ORPHA:56425
Hepatoportal Sclerosis	Portal hypertension, Nodular regenerative hyperplasia of liver, Hypersplenism, Splenomegaly, Port...	ORPHA:64743
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Anemia, Hepatomegaly	OMIM:620296
Elliptocytosis 2	Hemolytic anemia, Elliptocytosis, Reticulocytosis	OMIM:130600
Shwachman-Diamond Syndrome	Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane...	ORPHA:811
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau...	OMIM:603903
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Mosaic Variegated Aneuploidy Syndrome 4	Abnormality of chromosome stability	OMIM:620153
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Optic Atrophy 1	Pallor	OMIM:165500
Fanconi Anemia, Complementation Group F	Chromosomal breakage induced by crosslinking agents, Anemia, Leukopenia, Bone marrow hypocellular...	OMIM:603467
Caspase 8 Deficiency	Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy	OMIM:607271
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis	OMIM:619658
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Phosphoglycerate Kinase 1 Deficiency	Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis	OMIM:300653
Activated Pi3K-Delta Syndrome	Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia	ORPHA:397596
Fanconi Anemia, Complementation Group I	Intrauterine growth retardation, Pallor, Chromosomal breakage induced by crosslinking agents, Neu...	OMIM:609053
Icf Syndrome	Communicating hydrocephalus, Abnormality of chromosome stability, Abnormality of neutrophils, Umb...	ORPHA:2268
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Rec...	OMIM:618935
Coproporphyria, Hereditary	Splenomegaly, Jaundice, Hepatomegaly	OMIM:121300
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Splenomegaly, Anemia, Reduced natural killer cell count, Thrombocytopenia	OMIM:616050
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu...	ORPHA:381
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Hepatitis, Lymphadenopathy, Anemia, Coombs-positive he...	OMIM:304790
Thiamine-Responsive Megaloblastic Anemia Syndrome	Pallor, Thrombocytopenia, Megaloblastic anemia	ORPHA:49827
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities	Eosinophilia, Abnormally low T cell receptor excision circle level	OMIM:618092
Immunodeficiency 11B With Atopic Dermatitis	Eosinophilia	OMIM:617638
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Eosinophilia	OMIM:253600
Dermatitis, Atopic	Dry skin, Pallor, Facial erythema	OMIM:603165
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
Tularemia	Brain abscess, Mediastinal lymphadenopathy, Leukocytosis, Abnormal nasopharyngeal adenoid morphol...	ORPHA:3392
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ...	OMIM:139090
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Eosinophilia, Hepatitis, Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Lympho...	ORPHA:169160
Evans Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop...	ORPHA:1959
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff...	OMIM:612714
Immunodeficiency 36 With Lymphoproliferation	Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion of transitional ...	OMIM:616005
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Hepatomegaly	ORPHA:2204
Macrophage Activation Syndrome	Hepatomegaly, Splenomegaly, Hepatitis, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Ab...	ORPHA:158061
Mitochondrial Complex Iv Deficiency, Nuclear Type 16	Chromosomal breakage induced by crosslinking agents	OMIM:619060
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
Immunodeficiency 60 And Autoimmunity	Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count	OMIM:618394
Gaucher Disease Type 2	Splenomegaly, Hepatomegaly	ORPHA:77260
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2	Intrauterine growth retardation, Increased susceptibility to spontaneous sister chromatid exchange	OMIM:618097
Pseudo-Torch Syndrome 3	Cardiomegaly, Lymphadenitis, Leukocytosis, Congenital thrombocytopenia, Anemia	OMIM:618886
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Splenomegaly, Jaundice, Acholic stools, Portal fibrosis	OMIM:619868
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death	OMIM:273680
Amyloidosis, Familial Visceral	Splenomegaly, Cholestasis, Hepatomegaly	OMIM:105200
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem...	ORPHA:514
Fragile X Syndrome	Folate-dependent fragile site at Xq28	OMIM:300624
Trisomy 13	Anophthalmia, Patent ductus arteriosus, Hydrops fetalis, Aplasia/Hypoplasia of the iris, Micropht...	ORPHA:3378
Congenital Disorder Of Glycosylation, Type Ia	Thrombocytosis, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly	OMIM:212065
Fanconi Anemia, Complementation Group L	Chromosome breakage, Chromosomal breakage induced by crosslinking agents, Bone marrow hypocellula...	OMIM:614083
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Ascites	OMIM:269920
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia	ORPHA:85212
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:54057
Spinocerebellar Ataxia, Autosomal Recessive 21	Splenomegaly, Hepatic bridging fibrosis, Hepatic fibrosis, Hepatomegaly	OMIM:616719
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Pallor, Hypochromic anemia, Erythro...	OMIM:600462
Radial-Renal Syndrome	Chromosome breakage	OMIM:179280
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease	OMIM:214900
Glycogen Storage Disease Ixb	Splenomegaly, Increased hepatic glycogen content, Hepatomegaly	OMIM:261750
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio...	OMIM:153670
Pfapa Syndrome	Splenomegaly, Lymphadenopathy, Hepatomegaly	ORPHA:42642
Alpha-1-Antitrypsin Deficiency	Splenomegaly, Cirrhosis, Hepatocellular carcinoma	OMIM:613490
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Pallor	ORPHA:2786
Cinca Syndrome	Hepatomegaly, Abnormality of thrombocytes, Abnormality of neutrophils, Splenomegaly, Leukocytosis...	ORPHA:1451
Congenital Heart Block	Premature birth, Patent ductus arteriosus, Hydrops fetalis, Vaginal birth after Caesarian, Pallor...	ORPHA:60041
Congenital Disorder Of Glycosylation, Type Iio	Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosplenomegaly, Cholestatic liver d...	OMIM:616828
Neonatal Lupus Erythematosus	Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Splenomegaly, Cholestasis, Anemia,...	ORPHA:398124
Cholesteryl Ester Storage Disease	Hepatomegaly, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Thrombocytopenia, Splen...	OMIM:278000
Farber Lipogranulomatosis	Splenomegaly, Lipogranulomatosis, Hepatomegaly	OMIM:228000
Roifman Syndrome	Lymphadenopathy, Splenomegaly, Eosinophilia, Hepatomegaly	OMIM:616651
Eosinophilic Gastroenteritis	Leukocytosis, Ascites, Eosinophilia, Anemia	ORPHA:2070
Sitosterolemia 1	Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly...	OMIM:210250
Niemann-Pick Disease, Type A	Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenopathy, Sea-blue ...	OMIM:257200
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Adult-Onset Still Disease	Hepatomegaly, Generalized lymphadenopathy, Neutrophilia, Splenomegaly, Leukocytosis, Hepatitis, B...	ORPHA:829
Ataxia-Telangiectasia	Abnormality of chromosome stability, Lymphopenia	ORPHA:100
Fragile X Syndrome	Folate-dependent fragile site at Xq28	ORPHA:908
Hydrolethalus	Anophthalmia, Premature birth, Polyhydramnios, Anencephaly, Microphthalmia	ORPHA:2189
Bloom Syndrome	Chromosome breakage, Leukemia, Elevated hemoglobin A1c, Abnormality of chromosome stability	OMIM:210900
Joubert Syndrome 33	Splenomegaly	OMIM:617767
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah...	OMIM:619849
Cholesteryl Ester Storage Disease	Splenomegaly, Jaundice, Cirrhosis, Hepatomegaly	ORPHA:75234
Anophthalmia Plus Syndrome	Anophthalmia, Spina bifida	ORPHA:1104
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Eosinophilia	OMIM:618523
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Congenital Rubella Syndrome	Hepatomegaly, Splenomegaly, Jaundice, Anemia, Thrombocytopenia	ORPHA:290
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia	ORPHA:411986
Neuroleptic Malignant Syndrome	Thrombocytosis, Leukocytosis, Thrombocytopenia	ORPHA:94093
Fanconi Anemia, Complementation Group Q	Chromosome breakage, Bone marrow hypocellularity	OMIM:615272
Mevalonic Aciduria	Splenomegaly	ORPHA:29
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:230800
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Splenomegaly, Hepatic steatosis, Hepatosplenomegaly	OMIM:612526
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop...	OMIM:616100
Fish-Eye Disease	Splenomegaly, Lymphadenopathy, Hepatomegaly	ORPHA:79292
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
O'Sullivan-Mcleod Syndrome	Eosinophilia	ORPHA:99965
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia	ORPHA:90045
Neuraminidase Deficiency	Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Ascites	OMIM:256550
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:231095
Ornithine Transcarbamylase Deficiency	Splenomegaly	ORPHA:664
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90037
Felty Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy, Anemia, Bone marrow hypocellularity, Neutropenia, Ab...	ORPHA:47612
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Eosinophilia, Cutaneous abscess	OMIM:147060
Hereditary Chronic Pancreatitis	Leukocytosis, Recurrent pancreatitis, Pancreatic calcification, Jaundice	ORPHA:676
Peeling Skin Syndrome 1	Eosinophilia	OMIM:270300
Roifman Syndrome	Lymphadenopathy, Eosinophilia, Hepatosplenomegaly	ORPHA:353298
Hemochromatosis, Type 2A	Splenomegaly, Cirrhosis, Hepatomegaly	OMIM:602390
Optic Atrophy 7 With Or Without Auditory Neuropathy	Pallor	OMIM:612989
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B...	ORPHA:1414
Immunodeficiency, Common Variable, 2	Splenomegaly, Follicular hyperplasia, Lymphadenopathy, Hepatomegaly	OMIM:240500
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Leukopenia, Poikilocytosis, Erythr...	ORPHA:79277
Primary Lateral Sclerosis, Juvenile	Pallor	OMIM:606353
Sézary Syndrome	Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly	ORPHA:3162
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagoc...	ORPHA:158048
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice...	OMIM:214500
Hurler-Scheie Syndrome	Splenomegaly, Abnormality of the tonsils, Hepatomegaly	ORPHA:93476
Immunodeficiency, Common Variable, 7	Splenomegaly	OMIM:614699
Immunodeficiency 25	T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia	OMIM:610163
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Acute Generalized Exanthematous Pustulosis	Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Neutropenia	ORPHA:293173
Autoinflammation With Arthritis And Dyskeratosis	Splenomegaly, Autoimmune hemolytic anemia, Hypereosinophilia, Hepatomegaly	OMIM:617388
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis	ORPHA:713
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis	ORPHA:59303
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno...	OMIM:617237
Wilson Disease	Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Anemia, Cirrhosis, Acute hepatitis, Hepatic stea...	ORPHA:905
Fanconi Anemia, Complementation Group U	Chromosome breakage, Patent ductus arteriosus	OMIM:617247
Matthew-Wood Syndrome	Anophthalmia, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Microphthalmia, Int...	ORPHA:2470
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Pancreatic islet-cell hyperplasia, Pallor	ORPHA:276608
Glycogen Storage Disease Ixa1	Splenomegaly, Hepatomegaly	OMIM:306000
Letterer-Siwe Disease	Hepatosplenomegaly, Anemia, Pallor, Neutropenia, Thrombocytopenia	OMIM:246400
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Splenomegaly, Macrocytic anemia	OMIM:619046
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly	OMIM:619183
Cholestasis, Progressive Familial Intrahepatic, 3	Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro...	OMIM:602347
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Diffuse pancreatic islet hyperplasia, Focal pancreatic islet hyperplasia, Pallor, Hepatomegaly	ORPHA:276575
Trisomy 1Q	Anophthalmia, Polyhydramnios, Increased nuchal translucency, Patent ductus arteriosus, Hydrops fe...	ORPHA:261344
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy, Hepatomegaly	ORPHA:391
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Splenomegaly, Micronodular cirrhosis, Hepatosplenomegaly, Anemia, Hep...	OMIM:606003
Familial Cold Autoinflammatory Syndrome 1	Leukocytosis	OMIM:120100
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Perianal abscess, Leukocytosis, Peritonitis, Recurrent tonsillitis, Bone ...	ORPHA:2968
Muckle-Wells Syndrome	Leukocytosis	OMIM:191900
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Leukopenia, Cirrhosis, Ascites, ...	ORPHA:77259
Hyperinsulinism Due To Ucp2 Deficiency	Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly	ORPHA:276556
Relapsing Fever	Neutrophilia, Leukocytosis, Jaundice, Anemia, Leukopenia, Thrombocytopenia	ORPHA:91547
Lig4 Syndrome	Abnormality of chromosome stability, Leukocytosis, Pancytopenia, Acute leukemia	ORPHA:99812
Immunodeficiency 89 And Autoimmunity	Decreased eosinophil count, Hypochromic microcytic anemia	OMIM:619632
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia	ORPHA:169090
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel...	OMIM:601847
Sepsis In Premature Infants	Hepatomegaly, Petechiae, Premature birth, Splenomegaly, Leukocytosis, Jaundice, Anemia, Pallor, D...	ORPHA:90051
Primary Sclerosing Cholangitis	Hepatomegaly, Cholangiocarcinoma, Abnormal eosinophil morphology, Portal hypertension, Hepatocell...	ORPHA:171
Autoimmune Hemolytic Anemia, Warm Type	Splenomegaly, Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia	ORPHA:90033

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