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 (853 diseases)

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

Disease	Matching phenotypes	Source
Acute Promyelocytic Leukemia	Pancytopenia, Leukopenia, Leukocytosis, Neutropenia, Anemia, Lymphadenopathy, Thrombocytopenia	ORPHA:520
Dyskeratosis Congenita	Bone marrow hypocellularity, Splenomegaly, Hepatomegaly, Abnormality of neutrophils, Anemia, Cirr...	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
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Thrombocytopenia, Extramedullary hem...	OMIM:615285
Immunodeficiency 69	Pancytopenia, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Splenomegaly, Anemia	OMIM:618963
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Neutropenia, Anemia, Acute...	OMIM:202700
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Neu...	OMIM:614470
Thrombocythemia 1	Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr...	OMIM:187950
Fetal Cytomegalovirus Syndrome	Anemia, Splenomegaly, Hepatomegaly	ORPHA:294
Thrombocythemia 3	Thrombocytosis	OMIM:614521
Asplenia, Isolated Congenital	Thrombocytosis, Howell-Jolly bodies, Asplenia	OMIM:271400
Chronic Myeloid Leukemia	Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Splenomegaly, Thrombocytopenia, Abnorm...	ORPHA:521
Thrombocythemia 2	Thrombocytosis	OMIM:601977
Diamond-Blackfan Anemia 3	Elevated red cell adenosine deaminase level, Increased mean corpuscular volume, Macrocytic anemia...	OMIM:610629
Juvenile Arthritis	Thrombocytosis, Leukocytosis	OMIM:618795
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Decreased mean corpuscular volume, Anemia, Hypochromia	OMIM:205950
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ...	ORPHA:90039
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Anemia, Hypochromia	OMIM:206100
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive	Sideroblastic anemia, Hepatosplenomegaly, Pyridoxine-responsive sideroblastic anemia, Decreased m...	OMIM:206000
Acquired Idiopathic Sideroblastic Anemia	Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Bone marrow ...	ORPHA:75564
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Neutropenia, Monocytosis, B lymphocytopenia	OMIM:613107
Polycythemia Vera	Leukocytosis, Increased hemoglobin, Increased hematocrit, Thrombocytosis, Splenomegaly, Increased...	OMIM:263300
Diamond-Blackfan Anemia 12	Reticulocytopenia, Normochromic anemia, Macrocytic anemia, Elevated red cell adenosine deaminase ...	OMIM:615550
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Anemia of inadequate production, Oval macrocytosis, Anisocytosis, Poikilocytosis	OMIM:603529
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Pancytopenia, Bone marrow hypocellularity, Acute myeloid leukemia, Neutropenia, Anemia, Increased...	OMIM:619041
Immunodeficiency 27A	Hepatosplenomegaly, Leukocytosis, Histiocytosis, Thrombocytosis, Splenomegaly, Enlarged mesenteri...	OMIM:209950
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Leukopenia, Bone marrow hypocellularity, Monocytosis, Acute myeloid leukemia, Refractory anemia	OMIM:616871
Dysplasia Of Head Of Femur, Meyer Type	Leukocytosis, Enlarged tonsils	ORPHA:168621
Diamond-Blackfan Anemia 4	Neutropenia, Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia	OMIM:612527
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Leukopenia, Bone marrow hypocellularity, Thrombocytosis, Acute myeloid leukemia, Anisocytosis, Ab...	ORPHA:86841
Leukocyte Adhesion Deficiency, Type Iii	Leukocytosis, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Abnormality of thrombocytes...	OMIM:612840
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo...	ORPHA:67044
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Splenomegaly, Anisocytosis, Reduced red cell pyruvate kinase level, Anemia, Chronic hemolytic ane...	ORPHA:766
Anemia, Congenital Dyserythropoietic, Type Ia	Poikilocytosis, Splenomegaly, Anisocytosis, Erythroid hyperplasia, Reticulocytosis, Anemia of ina...	OMIM:224120
Anemia, Congenital Dyserythropoietic, Type Ib	Splenomegaly, Anisocytosis, Anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate ...	OMIM:615631
Immunodeficiency 14B, Autosomal Recessive	Leukocytosis, Monocytosis, Thrombocytosis, Neutrophilia, B lymphocytopenia	OMIM:619281
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia	OMIM:269600
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Microcytic anemia, Sterile abscess, Hepatosplenomegaly, Thrombocytosis	OMIM:604416
Eosinophilia, Familial	Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia	OMIM:131400
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Impaired platelet aggr...	OMIM:300835
Primary Myelofibrosis	Pancytopenia, Hepatosplenomegaly, Leukocytosis, Portal hypertension, Thrombocytosis, Splenomegaly...	ORPHA:824
Diamond-Blackfan Anemia 5	Reticulocytopenia, Leukopenia, Erythroid hypoplasia, Macrocytic anemia	OMIM:612528
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Anisocytosis, Abnormal mean co...	ORPHA:3203
Intrinsic Factor Deficiency	Megaloblastic erythroid hyperplasia, Megaloblastic anemia, Increased mean corpuscular volume	OMIM:261000
Sickle Cell Anemia	Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Cholestasis, Thrombocytosis...	ORPHA:232
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal platelet function, Splenomegaly, Anemia, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular hemoglobin concentration, Splenomegaly, Acanthocytosis, Hemolytic anem...	OMIM:616689
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Iron-Refractory Iron Deficiency Anemia	Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia	OMIM:206200
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Anemia, Splenomegaly, Hepatomegaly	ORPHA:46532
Idiopathic Aplastic Anemia	Pancytopenia, Bone marrow hypocellularity, Neutropenia, Anemia, Reticulocytopenia, Thrombocytopenia	ORPHA:88
Hemoglobin H Disease	Splenomegaly, Hepatomegaly, HbH hemoglobin, Hemolytic anemia, Reduced alpha/beta synthesis ratio	OMIM:613978
Fanconi Anemia, Complementation Group G	Leukemia, Neutropenia, Anemia, Abnormality of chromosome stability, Thrombocytopenia	OMIM:614082
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly	OMIM:183350
Eosinophil Peroxidase Deficiency	Abnormal eosinophil morphology	OMIM:261500
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Pancytopenia, Thrombocytosis, Megaloblastic anemia, Macrocytic anemia, Anemia of inadequate produ...	OMIM:617780
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Splenomegaly, Hepatomegaly	OMIM:606445
Erythroleukemia, Familial, Susceptibility To	Leukemia, Acute myeloid leukemia, Splenomegaly, Hepatomegaly, Anemia, Erythroid hyperplasia, Thro...	OMIM:133180
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis	OMIM:619398
Immunodeficiency 88	Eosinophilia	OMIM:619630
Diamond-Blackfan Anemia 8	Neutropenia, Increased mean corpuscular volume, Macrocytic anemia	OMIM:612563
Myeloproliferative Syndrome, Transient	Transient myeloproliferative syndrome, Leukocytosis	OMIM:159595
Hypereosinophilic Syndrome, Idiopathic	Eosinophilia, Myeloproliferative disorder, Splenomegaly, Hepatomegaly	OMIM:607685
Neutrophilia, Hereditary	Neutrophilia, Hepatosplenomegaly	OMIM:162830
Hyperbilirubinemia, Shunt, Primary	Splenomegaly, Hepatomegaly, Jaundice, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequat...	OMIM:237800
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Nonspherocytic hemolytic anemia, Splenomegaly, Jaundice	OMIM:206400
Hernia, Anterior Diaphragmatic	Neonatal death	OMIM:306950
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Acute Myelomonocytic Leukemia	Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia	ORPHA:517
Diamond-Blackfan Anemia 19	Anemia, Erythroid hypoplasia, Steroid-responsive anemia	OMIM:618312
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Trimethylaminuria	Neutropenia, Anemia, Splenomegaly	OMIM:602079
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hemolytic anemia, Lymphad...	ORPHA:444463
Heme Oxygenase 1 Deficiency	Thrombocytosis, Coombs-positive hemolytic anemia, Cervical lymphadenopathy, Hepatomegaly, Hemolyt...	OMIM:614034
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Hepatosplenomegaly, Anemia, Anisopoikilocytosis, Dysplastic erythropoesis, Reticulocytopenia, Dec...	ORPHA:300298
Adult Idiopathic Neutropenia	Neutropenia, Monocytosis, Lymphopenia, Monocytopenia	ORPHA:2688
Beta-Thalassemia, Dominant Inclusion Body Type	Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat...	OMIM:603902
Thrombocytopenia, Cyclic	Neutropenia, Cyclic neutropenia, Thrombocytopenia	OMIM:188020
Familial Pseudohyperkalemia	Reticulocytosis, Episodic hemolytic anemia, Increased mean corpuscular volume, Stomatocytosis	ORPHA:90044
Anemia, Hypochromic Microcytic, With Iron Overload 2	Poikilocytosis, Splenomegaly, Anemia, Decreased mean corpuscular volume, Hypochromia	OMIM:615234
Immunodeficiency 7	Hypereosinophilia, Lymphadenopathy	OMIM:615387
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatosplenomegaly, Anisocytosis, Splenomegaly, Anemia, Erythroid hyperplasia, Decreased mean cor...	OMIM:616860
Hemoglobin C-Beta-Thalassemia Syndrome	Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231242
Aregenerative Anemia	Pancytopenia, Bone marrow hypocellularity, Decreased proportion of CD4-positive helper T cells, A...	ORPHA:101096
Myeloproliferative Disorder, Chronic, With Eosinophilia	Eosinophilia, Myeloproliferative disorder	OMIM:131440
Bone Marrow Failure Syndrome 6	Bone marrow hypocellularity, Neutropenia, Anemia, Increased mean corpuscular volume, Persistence ...	OMIM:618849
Immunodeficiency 92	Sclerosing cholangitis, Leukocytosis, Cholangitis, Thrombocytosis, Hepatomegaly, B lymphocytopeni...	OMIM:619652
Hemoglobin E Disease	Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio...	ORPHA:2133
Red Cell Phospholipid Defect With Hemolysis	Reticulocytosis, Intermittent jaundice, Splenomegaly	OMIM:179700
Immunodeficiency 91 And Hyperinflammation	Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Neutrophilia, Hepatomegaly, Lymphadenopathy, T...	OMIM:619644
Autoimmune Hemolytic Anemia, Cold Type	Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia	ORPHA:228312
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death	OMIM:226735
Reticuloendotheliosis, X-Linked	Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice	OMIM:312500
Dehydrated Hereditary Stomatocytosis	Schistocytosis, Reticulocytosis, Macrocytic anemia, Increased mean corpuscular hemoglobin concent...	ORPHA:3202
Juvenile Temporal Arteritis	Eosinophilia, Leukocytosis	ORPHA:26137
Ichthyosis-Prematurity Syndrome	Eosinophilia	ORPHA:88621
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Anemia, Increased mean corpuscular volume, Abnormal erythrocyte morphology, Poikilo...	ORPHA:98870
Immunodeficiency 104	Lymphadenopathy, T lymphocytopenia, Splenomegaly, Hepatomegaly	OMIM:608971
Oslam Syndrome	Abnormality of neutrophils, Increased mean corpuscular volume	ORPHA:2760
Pyknoachondrogenesis	Stillbirth	OMIM:265880
Lethal Congenital Contracture Syndrome 3	Neonatal death	OMIM:611369
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequate production	OMIM:224100
Transient Erythroblastopenia Of Childhood	Transient erythroblastopenia, Anemia	OMIM:227050
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia	ORPHA:231401
Anemia, Congenital Dyserythropoietic, Type Iv	Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki...	OMIM:613673
Idiopathic Acute Eosinophilic Pneumonia	Abnormal eosinophil morphology	ORPHA:724
Nevoid Hypermelanosis, Linear And Whorled	Eosinophilia	OMIM:614323
Neutropenia, Lethal Congenital, With Eosinophilia	Neutropenia, Eosinophilia	OMIM:257100
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Leukopenia, Monocytosis, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Lymphopenia, Hypoplasia...	OMIM:612541
Immunodeficiency 21	Neutropenia, Abnormal natural killer cell morphology, Myeloid leukemia, Aplastic anemia, Monocyto...	OMIM:614172
Eosinophilopenia	Decreased eosinophil count	OMIM:131430
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Fava bean-induced hemolytic anemia, Leukocytosis, Anisocytosis, Splenomegaly, Heinz bodies, Retic...	OMIM:300908
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity	Pancytopenia, Abnormality of chromosome stability	OMIM:600546
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Anemia, Lymphadenopathy, Thr...	OMIM:603552
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia, Abnormality of thrombocytes	ORPHA:721
Fanconi Anemia, Complementation Group E	Pancytopenia, Leukemia, Chromosomal breakage induced by crosslinking agents, Neutropenia, Anemia,...	OMIM:600901
Hereditary Spherocytosis	Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, Jaundice, Hepa...	ORPHA:822
Thrombocytopenia 4	Thrombocytopenia	OMIM:612004
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Hepatosplenomegaly, Anemia, Thrombocytopenia, Extramedullary hematopoiesis	OMIM:259710
Transcobalamin Ii Deficiency	Pancytopenia, Reticulocytopenia, Neutropenia, Macrocytic anemia	OMIM:275350
Fanconi Anemia, Complementation Group A	Pancytopenia, Leukemia, Chromosomal breakage induced by crosslinking agents, Neutropenia, Anemia,...	OMIM:227650
Beta-Thalassemia Intermedia	Cholelithiasis, Abnormality of the liver, Hepatosplenomegaly, Leukocytosis, Cirrhosis, Splenomega...	ORPHA:231222
Autosomal Dominant Severe Congenital Neutropenia	Eosinophilia, Monocytosis, Leukemia, Acute myeloid leukemia, Neutropenia, Aplastic anemia, Acute ...	ORPHA:486
Immunodeficiency 76	T lymphocytopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Lymphopenia	OMIM:619164
Hemophagocytic Lymphohistiocytosis, Familial, 3	Anemia, Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis	OMIM:608898
Holoprosencephaly, Recurrent Infections, And Monocytosis	Monocytosis	OMIM:610680
Immunodeficiency 52	Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Inc...	OMIM:617514
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly	OMIM:618495
Niemann-Pick Disease, Type B	Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells, Thrombocytopenia, Sea-blue histiocytosis	OMIM:607616
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
Autoinflammation With Episodic Fever And Lymphadenopathy	Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Hepatomegaly, Lymphadenopathy	OMIM:618852
Fanconi Anemia, Complementation Group C	Pancytopenia, Leukemia, Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking...	OMIM:227645
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormal platelet function, Hypoplastic anemia, Spl...	ORPHA:2585
X-Linked Severe Congenital Neutropenia	Neutropenia, Monocytopenia	ORPHA:86788
Kimura Disease	Eosinophilia, Follicular hyperplasia, Lymphadenopathy	ORPHA:482
Immunodeficiency 11B With Atopic Dermatitis	Eosinophilia	OMIM:617638
Fanconi Anemia, Complementation Group D1	Chromosomal breakage induced by crosslinking agents, T-cell acute lymphoblastic leukemias, Acute ...	OMIM:605724
Immunodeficiency 48	Splenomegaly, Hepatomegaly	OMIM:269840
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Anemia, Elliptocytosis, Decreased mean corpuscular volume, Poikilocytosis	OMIM:616959
Transcobalamin Deficiency	Pancytopenia, Thrombocytopenia, Abnormality of chromosome stability, Neutropenia, Lymphopenia	ORPHA:859
Mu-Heavy Chain Disease	Splenomegaly, Hepatomegaly, Abnormal B cell count, Anemia, Lymphadenopathy	ORPHA:100024
Cyanosis, Transient Neonatal	Reticulocytosis, Anemia, Methemoglobinemia	OMIM:613977
Immunodeficiency 14A, Autosomal Dominant	T lymphocytopenia, Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B...	OMIM:615513
Alpha-Thalassemia	Microcytic anemia, Cholelithiasis, Splenomegaly, Jaundice, Anemia, Hemolytic anemia, Abnormal hem...	ORPHA:846
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly	OMIM:619175
Pancytopenia And Occlusive Vascular Disease	Pancytopenia, Anemia, Leukopenia, Thrombocytopenia	OMIM:167850
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Eosinophilia, Lymphopenia	ORPHA:2582
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Anemia, Lymphadenopathy, Thrombocytopenia	OMIM:613101
Diamond-Blackfan Anemia 10	Reticulocytopenia, Anemia, Macrocytic anemia, Steroid-responsive anemia	OMIM:613309
Spherocytosis, Type 5	Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis	OMIM:612690
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Fluctuating splenomegaly, Neutropenia i...	OMIM:619220
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Anemia, Splenomegaly, Thrombocytopenia	OMIM:615085
Halothane Hepatitis	Eosinophilia, Viral hepatitis, Hepatitis, Jaundice	OMIM:234350
Elliptocytosis 3	Decreased mean corpuscular volume, Pyropoikilocytosis, Chronic hemolytic anemia, Elliptocytosis	OMIM:617948
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Leukopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Anemia, B lymphocytopenia...	ORPHA:508542
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Generalized Eruptive Histiocytosis	Hypereosinophilia, Leukemia, Histiocytosis	ORPHA:157991
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Macrocytic anemia	OMIM:612561
Fanconi Anemia, Complementation Group S	Anemia, Chromosome breakage	OMIM:617883
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy	ORPHA:66661
Immunodeficiency 103, Susceptibility To Fungal Infections	Hypereosinophilia, Lymphadenopathy	OMIM:212050
Orotic Aciduria	Folate-unresponsive megaloblastic anemia, Hypochromia, Anisocytosis, Pyrimidine-responsive megalo...	OMIM:258900
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, T lymphocytopenia, Leukopenia, Hepatosplenomegaly, Impaired neutrophil chemotaxis, ...	OMIM:618986
Cryohydrocytosis	Reticulocytosis, Splenomegaly, Hemolytic anemia, Stomatocytosis	OMIM:185020
Immunodeficiency 54	Adrenocorticotropic hormone excess, Intrauterine growth retardation, Chromosome breakage, Splenom...	OMIM:609981
Rh Deficiency Syndrome	Macrocytic anemia, Hepatosplenomegaly, Anisocytosis, Spherocytosis, Hemolytic anemia, Stomatocyto...	ORPHA:71275
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Splenomegaly, Hepatomegaly, Anemia, Hypersplenism, Thrombocytopenia	OMIM:610539
Fanconi Anemia, Complementation Group L	Abnormality of chromosome stability, Anemia, Chromosome breakage, Bone marrow hypocellularity	OMIM:614083
Autoimmune Lymphoproliferative Syndrome	Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy...	OMIM:601859
Familial Thrombocytosis	Thrombocytosis, Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia	ORPHA:71493
Breath-Holding Spells	Pallor, Iron deficiency anemia	OMIM:607578
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Splenomegaly, Neutropenia, B lymphocytopen...	OMIM:150550
Sting-Associated Vasculopathy, Infantile-Onset	Paratracheal lymphadenopathy, Leukopenia, Thrombocytosis, Anemia, Follicular hyperplasia, Lymphop...	OMIM:615934
Erythrocytosis, Familial, 8	Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti...	OMIM:222800
Majeed Syndrome	Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Decreased mean corpuscular volume, ...	OMIM:609628
Felty Syndrome	Neutropenia, Splenomegaly	OMIM:134750
Bone Marrow Failure Syndrome 2	Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia	OMIM:615715
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia	OMIM:314050
Macrosomia Adiposa Congenita	Eosinophilia	OMIM:248100
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Leukocytosis, Thrombocytosis, Interface hepatitis, Autoimmune hemolytic anemia, Impaired lymphocy...	OMIM:243150
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly	ORPHA:139406
Omenn Syndrome	Eosinophilia, Splenomegaly, Hepatomegaly, Severe B lymphocytopenia, Anemia, B lymphocytopenia, Ly...	OMIM:603554
Retinitis Pigmentosa 42	Pallor	OMIM:612943
N Syndrome	Abnormality of chromosome stability, Leukemia	OMIM:310465
Spherocytosis, Type 4	Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis	OMIM:612653
Osteopetrosis, Autosomal Recessive 5	Pancytopenia, Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, Hypochromic microcytic anemia, As...	OMIM:259720
Osteopetrosis, Autosomal Recessive 4	Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia	OMIM:611490
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Thrombocytosis, Iron deficiency anemia, Hepatomegaly, Ascites	OMIM:226300
Amegakaryocytic Thrombocytopenia, Congenital	Pancytopenia, Amegakaryocytic thrombocytopenia, Thrombocytopenia	OMIM:604498
Fanconi Anemia, Complementation Group D2	Pancytopenia, Leukemia, Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking...	OMIM:227646
Nijmegen Breakage Syndrome-Like Disorder	Microcephaly, Chromosomal breakage induced by ionizing radiation	OMIM:613078
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Microcytic anemia, Hypochromic anemia, Sideroblastic anemia, Pappenheimer bodies, Microcephaly, E...	OMIM:600462
Placental Insufficiency	Abnormal placenta morphology, Intrauterine growth retardation, Eclampsia, Maternal hypertension, ...	ORPHA:439167
Osteopetrosis, Autosomal Recessive 3	Anemia, Hepatosplenomegaly, Extramedullary hematopoiesis	OMIM:259730
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti...	OMIM:235700
Schnitzler Syndrome	Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy	ORPHA:37748
Blackfan-Diamond Anemia	Leukopenia, Thrombocytosis, Erythroid hypoplasia, Acute myeloid leukemia, Elevated red cell adeno...	ORPHA:124
Eosinophilic Fasciitis	Eosinophilia, Abnormal eosinophil morphology	ORPHA:3165
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology	ORPHA:1164
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Decrea...	OMIM:619375
Overhydrated Hereditary Stomatocytosis	Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185000
Dominant Beta-Thalassemia	Hepatosplenomegaly, Cirrhosis, Decreased mean corpuscular hemoglobin concentration, Hepatic fibro...	ORPHA:231226
Sea-Blue Histiocytosis	Splenomegaly, Hepatomegaly, Mediastinal lymphadenopathy, Thrombocytopenia, Sea-blue histiocytosis	ORPHA:158029
Hypertriglyceridemia, Transient Infantile	Hepatic steatosis, Hepatic fibrosis, Splenomegaly, Hepatomegaly	OMIM:614480
Alpha-Heavy Chain Disease	Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy, Ascites	ORPHA:100025
Thrombocytopenia 7	Impaired ADP-induced platelet aggregation, Impaired arachidonic acid-induced platelet aggregation...	OMIM:619130
Spherocytosis, Type 2	Splenomegaly, Acanthocytosis, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis	OMIM:616649
Combined Immunodeficiency Due To Partial Rag1 Deficiency	T lymphocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neu...	ORPHA:231154
Pearson Marrow-Pancreas Syndrome	Pancytopenia, Refractory sideroblastic anemia, Sideroblastic anemia, Hypoplastic anemia, Neutrope...	OMIM:557000
Cinca Syndrome	Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia, Lymphadenopathy	OMIM:607115
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Cerebral atrophy, Megaloblastic anemia, Hepatomegaly, Jaundice, Secondary microceph...	OMIM:613839
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Splenomegaly, Hepatomegaly	OMIM:618541
Beta-Thalassemia Major	Hepatosplenomegaly, Cirrhosis, Decreased mean corpuscular hemoglobin concentration, Hepatic fibro...	ORPHA:231214
Spherocytosis, Type 1	Cholelithiasis, Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis	OMIM:182900
Immunodeficiency 64	Hepatosplenomegaly, Abnormal CD4:CD8 ratio, Autoimmune thrombocytopenia, Autoimmune hemolytic ane...	OMIM:618534
Erythrocytosis, Familial, 1	Splenomegaly, Increased red blood cell mass, Increased hemoglobin, Increased hematocrit	OMIM:133100
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Autoimmune thrombocytopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper...	OMIM:300853
Retinitis Pigmentosa 81	Pallor	OMIM:617871
Fraxf Syndrome	Folate-dependent fragile site at Xq28	ORPHA:100974
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
X-Linked Sideroblastic Anemia	Anemia, Splenomegaly	ORPHA:75563
Tyrosinemia Type 1	Hepatocellular carcinoma, Splenomegaly, Hepatomegaly	ORPHA:882
Fgfr2-Related Bent Bone Dysplasia	Hepatosplenomegaly, Extramedullary hematopoiesis	ORPHA:313855
Familial Cold Autoinflammatory Syndrome 2	Leukocytosis, Lymphadenopathy, Splenomegaly	OMIM:611762
Anemia, Sideroblastic, 5	Neutropenia, Anemia, Thrombocytopenia, Reduced hematocrit, Hypochromic microcytic anemia	OMIM:619523
Retinitis Pigmentosa 60	Pallor	OMIM:613983
Lymphoproliferative Syndrome, X-Linked, 1	Pancytopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Neutropenia, Lymphadenopathy, Aplasti...	OMIM:308240
Oculocerebrocutaneous Syndrome	Anophthalmia, Agenesis of corpus callosum, Microphthalmia, Orbital encephalocele, Hypoplasia of t...	OMIM:164180
Methylcobalamin Deficiency Type Cble	Pancytopenia, Increased mean corpuscular volume, Neutropenia, Macrocytic anemia	ORPHA:2169
Harderoporphyria	Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, Hemolytic anemia, Reticulocytosis	OMIM:618892
Hb Bart'S Hydrops Fetalis	Abnormal hemoglobin, Hydrops fetalis, Splenomegaly, Hepatomegaly, Anemia, Polyhydramnios, Preecla...	ORPHA:163596
Glutamate-Cysteine Ligase Deficiency	Reticulocytosis, Jaundice, Hepatosplenomegaly, Hemolytic anemia	ORPHA:33574
Fryns Microphthalmia Syndrome	Neural tube defect, Anophthalmia, Microphthalmia	OMIM:600776
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Pancytopenia, Leukopenia, Hepatosplenomegaly, Leukocytosis, Bone marrow hypocellularity, Thromboc...	OMIM:615688
Meckel Syndrome, Type 8	Microphthalmia, Microcephaly, Anophthalmia, Encephalocele	OMIM:613885
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Megaloblastic anemia, Increased mean corpuscular volume	OMIM:277410
Hemochromatosis, Type 2B	Splenomegaly, Hepatomegaly, Anemia, Cirrhosis, Hepatic fibrosis	OMIM:613313
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Reticulocytosis, Hepatosplenomegaly, Hemolytic anemia, Decreased mean corpuscular volume	OMIM:611590
Refractory Anemia	Normocytic anemia, Bone marrow hypocellularity, Neutropenia, Macrocytic anemia, Normochromic anem...	ORPHA:98826
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Pancytopenia, Splenomegaly	OMIM:614979
Acute Peripheral Arterial Occlusion	Leukocytosis	ORPHA:90064
Congenital Bile Acid Synthesis Defect Type 2	Hepatic steatosis, Cholestasis, Hepatomegaly, Jaundice, Giant cell hepatitis, Prolonged neonatal ...	ORPHA:79303
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Unclassified Myelodysplastic Syndrome	Acute myeloid leukemia, Leukocytosis, Bone marrow hypocellularity	ORPHA:98827
Indolent Systemic Mastocytosis	Abnormal mast cell morphology, Mastocytosis, Splenomegaly, Hepatomegaly, Increased proportion of ...	ORPHA:98848
Anencephaly 2	Anencephaly, Anophthalmia	OMIM:619452
Leishmaniasis	Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Hepatomegaly, Anemia, Lym...	ORPHA:507
Beta-Thalassemia	Cholelithiasis, Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Hepatomegaly, Anemia, Hepat...	ORPHA:848
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly	ORPHA:417
Retinohepatoendocrinologic Syndrome	Pallor, Degenerative liver disease	OMIM:268040
Fanconi Anemia, Complementation Group I	Colpocephaly, Intrauterine growth retardation, Agenesis of corpus callosum, Chromosomal breakage ...	OMIM:609053
Galactose Epimerase Deficiency	Splenomegaly, Hepatomegaly, Jaundice	ORPHA:79238
Autoimmune Lymphoproliferative Syndrome, Type Iia	Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy...	OMIM:603909
Lymphoproliferative Syndrome, X-Linked, 2	Pancytopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Hepatitis, Aplastic anemia	OMIM:300635
Fanconi Anemia, Complementation Group J	Chromosomal breakage induced by crosslinking agents, Bone marrow hypocellularity	OMIM:609054
Aicardi-Goutieres Syndrome 4	Pancytopenia, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Thrombocytopenia	OMIM:610333
Sebastian syndrome	Giant platelets, Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies	OMIM:605249
Cyclic Neutropenia	Decreased eosinophil count, Peritonitis, Thrombocytopenia, Tooth abscess, Recurrent tonsillitis, ...	ORPHA:2686
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Chronic hemolytic anemia, Reticulocytosis	OMIM:266200
Refractory Anemia With Excess Blasts	Leukocytosis, Bone marrow hypocellularity, Acute myeloid leukemia, Abnormal mean corpuscular volu...	ORPHA:86839
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Bilateral microphthalmos, Anophthalmia	OMIM:611638
Immunodeficiency, Common Variable, 1	Splenomegaly, Hepatomegaly, Neutropenia in presence of anti-neutropil antibodies, B lymphocytopen...	OMIM:607594
Galactosemia Iii	Splenomegaly, Hepatomegaly, Jaundice	OMIM:230350
Deafness-Lymphedema-Leukemia Syndrome	Leukocytosis, Bone marrow hypocellularity, Abnormal neutrophil count, Myeloproliferative disorder...	ORPHA:3226
Combined Saposin Deficiency	Splenomegaly, Hepatomegaly	OMIM:611721
Autoimmune Lymphoproliferative Syndrome, Type Iii	Decreased proportion of memory B cells, Hepatosplenomegaly, Autoimmune thrombocytopenia, Autoimmu...	OMIM:615559
Optic Atrophy 9	Pallor	OMIM:616289
Wells Syndrome	Eosinophilia	ORPHA:901
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Solute carrier family 4 (anion exchanger), member 1	Splenomegaly, Acanthocytosis, Jaundice, Spherocytosis, Hemolytic anemia, Elliptocytosis, Stomatoc...	OMIM:109270
Beta-Ketothiolase Deficiency	Thrombocytosis, Leukocytosis, Hepatomegaly	ORPHA:134
Cogan Syndrome	Thrombocytosis, Anemia, Leukocytosis	ORPHA:1467
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Lymphadenopathy, Splenomegaly, Hepatomegaly	ORPHA:86893
Gaucher Disease, Type Iii	Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly	OMIM:231000
Interstitial Lung And Liver Disease	Hepatic steatosis, Cholestasis, Thrombocytosis, Hepatomegaly, Anemia, Cirrhosis, Hepatic fibrosis	OMIM:615486
Sandhoff Disease	Splenomegaly, Hepatomegaly	ORPHA:796
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Impaired neutrophil bactericidal activity,...	OMIM:613470
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Anemia, Splenomegaly, Hemophagocytosis	OMIM:618398
Progressive Familial Intrahepatic Cholestasis	Cholestasis, Splenomegaly, Hepatomegaly, Jaundice, Abnormality of thrombocytes	ORPHA:172
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Microcephaly, Severe intrauterine growth retardation, Intrauterine growth retardation, Small plac...	ORPHA:73272
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, T lymphocytopenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly...	ORPHA:169154
Lymphoproliferative Syndrome 1	Pancytopenia, Leukopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Decreased pro...	OMIM:613011
Hemoglobin-Delta locus	Anemia, Imbalanced hemoglobin synthesis	OMIM:142000
Fanconi Anemia, Complementation Group T	Pancytopenia, Anemia, Thrombocytopenia, Bone marrow hypocellularity	OMIM:616435
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatosplenomegaly, Leukocytosis, Anisocytosis, Chronic hemolytic anemia, Hemolytic anemia, Ellip...	OMIM:618278
Babesiosis	Leukopenia, Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia, Thrombocytopenia	ORPHA:108
Bleeding Disorder, Platelet-Type, 16	Impaired platelet aggregation, Macrothrombocytopenia, Platelet anisocytosis, Giant platelets, Ane...	OMIM:187800
Osteopetrosis, Autosomal Dominant 3	Anemia, Splenomegaly, Hepatomegaly	OMIM:618107
Griscelli Syndrome Type 2	Pancytopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Lymphadenopathy	ORPHA:79477
Idiopathic Hypereosinophilic Syndrome	Eosinophilia, Hepatosplenomegaly, Leukocytosis, Cholangitis, Thrombocytosis, Chronic hepatitis, M...	ORPHA:3260
Lymphoproliferative Syndrome 2	Pancytopenia, Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, ...	OMIM:615122
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Elliptocytosis 1	Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia	OMIM:611804
3-Hydroxy-3-Methylglutaric Aciduria	Acute pancreatitis, Leukopenia, Leukocytosis, Thrombocytosis, Lipid accumulation in hepatocytes, ...	ORPHA:20
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Thrombocytopenia	ORPHA:79312
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilia, Hepatosplenomegaly, Hepatic cysts, Eosinophilic liver infiltration	OMIM:618999
Aicardi-Goutieres Syndrome 7	Thrombocytopenia, Hepatomegaly, Splenomegaly	OMIM:615846
Poems Syndrome	Polycythemia, Thrombocytosis, Visceromegaly, Lymphadenopathy, Ascites	ORPHA:2905
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, ...	OMIM:194380
Diamond-Blackfan Anemia 7	Neutropenia, Increased mean corpuscular volume, Macrocytic anemia	OMIM:612562
Portal Hypertension, Noncirrhotic, 1	Portal hypertension, Splenomegaly, Hepatomegaly	OMIM:617068
Bile Acid Synthesis Defect, Congenital, 5	Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi...	OMIM:616278
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Chromosomal Instability With Tissue-Specific Radiosensitivity	Abnormality of chromosome stability, Microcephaly	OMIM:215510
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal hypertension, Splenomegaly, Hepatomegaly	OMIM:610293
Diamond-Blackfan Anemia 1	Congenital hypoplastic anemia, Thrombocytosis, Elevated red cell adenosine deaminase level, Neutr...	OMIM:105650
Autoerythrocyte Sensitization Syndrome	Thrombocytosis, Autoimmune thrombocytopenia, Impaired platelet adhesion, Abnormal erythrocyte mor...	ORPHA:324636
Splenoportal Vascular Anomalies	Splenomegaly, Anomalous splenoportal venous system, Ascites, Cirrhosis, Hepatic fibrosis	OMIM:271500
Fanconi Anemia, Complementation Group N	Chromosomal breakage induced by crosslinking agents, Aplastic anemia	OMIM:610832
Esophagitis, Eosinophilic, 2	Eosinophilia	OMIM:613412
Esophagitis, Eosinophilic, 1	Eosinophilia	OMIM:610247
Gaucher Disease, Type Ii	Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly	OMIM:230900
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Pancytopenia, Hepatosplenomegaly, Hemophagocytosis, Acute myeloid leukemia, Splenomegaly, Neutrop...	ORPHA:158057
Mitochondrial Complex Iv Deficiency, Nuclear Type 16	Chromosomal breakage induced by crosslinking agents, Cerebral atrophy	OMIM:619060
Portal Hypertension, Noncirrhotic, 2	Portal hypertension, Splenomegaly, Hepatomegaly, Nodular regenerative hyperplasia of liver, Ascit...	OMIM:619463
Macrocephaly/Autism Syndrome	Hepatomegaly, Splenomegaly, Lymphopenia	OMIM:605309
Gamma-Heavy Chain Disease	Abnormal lymphocyte morphology, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenom...	ORPHA:100026
Sitosterolemia 1	Abnormality of the liver, Impaired platelet aggregation, Giant platelets, Splenomegaly, Chronic h...	OMIM:210250
Omenn Syndrome	Abnormal lymphocyte morphology, Eosinophilia, Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, L...	ORPHA:39041
Dextrocardia With Unusual Facies And Microphthalmia	Microphthalmia, Anophthalmia	OMIM:221950
Syndromic Diarrhea	Hepatoblastoma, Abnormality of the liver, Cirrhosis, Thrombocytosis, Splenomegaly, Hepatomegaly, ...	ORPHA:84064
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Classic Mycosis Fungoides	Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:2584
Essential Thrombocythemia	Splenomegaly, Abnormality of thrombocytes, Acute leukemia, Abnormal platelet morphology	ORPHA:3318
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Reduction of neutrophil motility, Leukocytosis, Impaired neutrophil chemotaxis, Rectal abscess, N...	OMIM:608203
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic fibrosis, Splenomegaly, Hepatomegaly	OMIM:616719
Cold Agglutinin Disease	Lymphadenopathy, Splenomegaly, Hepatomegaly, Hemolytic anemia	ORPHA:56425
Shwachman-Diamond Syndrome	Pancytopenia, Leukopenia, Normocytic anemia, Leukemia, Bone marrow hypocellularity, Impaired neut...	ORPHA:811
Wolman Disease	Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites	ORPHA:75233
Elliptocytosis 2	Reticulocytosis, Hemolytic anemia, Elliptocytosis	OMIM:130600
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Eosinophilia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Lymphadenitis, Au...	ORPHA:331206
Congenital Bile Acid Synthesis Defect Type 1	Splenomegaly, Hepatomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Neonatal cholestatic ...	ORPHA:79301
Autoimmune Hemolytic Anemia	Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia	ORPHA:98375
Hodgkin Lymphoma	Lymphadenopathy, Splenomegaly, Hepatomegaly	ORPHA:98293
Glut1 Deficiency Syndrome 2	Reticulocytosis	OMIM:612126
Acute Panmyelosis With Myelofibrosis	Pancytopenia, Bone marrow hypocellularity, Acute myeloid leukemia, Splenomegaly, Lymphocytosis, A...	ORPHA:86843
Hydrolethalus	Anophthalmia, Agenesis of corpus callosum, Absent septum pellucidum, Anencephaly, Microphthalmia,...	ORPHA:2189
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death	Abnormality of chromosome stability, Chromosome breakage, Leukemia	OMIM:208910
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Bloom Syndrome	Abnormality of chromosome stability, Chromosome breakage, Leukemia	OMIM:210900
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Anemia, Splenomegaly, Ascites	ORPHA:1046
Immunodeficiency 32B	Splenomegaly	OMIM:226990
Silver-Russell Syndrome Due To A Point Mutation	Oligohydramnios, Intrauterine growth retardation, Small placenta	ORPHA:397590
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia	OMIM:615524
Scleroderma, Familial Progressive	Abnormality of chromosome stability, Chromosome breakage	OMIM:181750
Congenital Disorder Of Glycosylation, Type Ia	Thrombocytosis, Hepatic steatosis, Hepatic fibrosis, Hepatomegaly	OMIM:212065
Aggressive Systemic Mastocytosis	Pancytopenia, Abnormal mast cell morphology, Hepatosplenomegaly, Leukemia, Leukocytosis, Portal h...	ORPHA:98850
Hemoglobin E-Beta-Thalassemia Syndrome	Abnormal hemoglobin, Anemia	ORPHA:231249
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Exocrine pancreatic insufficiency, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Anemia of inadeq...	OMIM:612714
Follicular Lymphoma	Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly, Abnormality of the peritoneum	ORPHA:545
Brucellosis	Abnormality of the liver, Leukopenia, Leukocytosis, Lung abscess, Thrombocytosis, Splenomegaly, H...	ORPHA:1304
Fanconi Anemia, Complementation Group F	Leukopenia, Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking agents, Ane...	OMIM:603467
Thrombocytopenia 5	Neutropenia, Anemia, Thrombocytopenia	OMIM:616216
Fanconi Anemia, Complementation Group V	Neutropenia, Anemia, Thrombocytopenia, Bone marrow hypocellularity	OMIM:617243
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Hepatocellular Carcinoma	Polycythemia, Abnormality of the liver, Portal hypertension, Thrombocytosis, Ascites, Hepatomegal...	ORPHA:88673
Primary Lateral Sclerosis, Juvenile	Pallor, Cerebral cortical atrophy	OMIM:606353
Combined Immunodeficiency Due To Zap70 Deficiency	Eosinophilia, Hepatosplenomegaly, Lymphadenitis, Autoimmune thrombocytopenia, Autoimmune hemolyti...	ORPHA:911
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Hepatic fibrosis	OMIM:619658
Bleeding Disorder, Platelet-Type, 24	Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Imp...	OMIM:619271
Bleeding Disorder, Platelet-Type, 15	Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume	OMIM:615193
Hepatoportal Sclerosis	Intrahepatic portal vein sclerosis, Leukopenia, Portal hypertension, Periportal fibrosis, Splenom...	ORPHA:64743
Glycogen Storage Disease Xii	Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti...	OMIM:611881
Familial Focal Epilepsy With Variable Foci	Pallor, Polymicrogyria, Focal cortical dysplasia, Hemimegalencephaly	ORPHA:98820
Hereditary Elliptocytosis	Cholelithiasis, Stomatocytosis, Splenomegaly, Jaundice, Prolonged neonatal jaundice, Hemolytic an...	ORPHA:288
Fragile X Syndrome	Folate-dependent fragile site at Xq28, Cerebral cortical atrophy	ORPHA:908
Systemic Mastocytosis With Associated Hematologic Neoplasm	Eosinophilia, Abnormal mast cell morphology, Leukocytosis, Normocytic anemia, Chronic myelomonocy...	ORPHA:98849
Macrophage Activation Syndrome	Hemophagocytosis, Splenomegaly, Abnormal natural killer cell count, Hepatomegaly, Neutropenia, An...	ORPHA:158061
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Hepatosplenomegaly, Lymphadenitis, Splenomegaly, Recurrent tonsillitis, Absce...	OMIM:618935
Gray Platelet Syndrome	Abnormal number of alpha granules, Impaired collagen-induced platelet aggregation, Splenomegaly, ...	OMIM:139090
Griscelli Syndrome	Leukopenia, Bone marrow hypocellularity, Splenomegaly, Hepatomegaly, Jaundice, Abnormality of neu...	ORPHA:381
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death	OMIM:273680
Auditory Neuropathy And Optic Atrophy	Pallor	OMIM:617717
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Splenomegaly, Anemia, Thrombocytopenia, Reduced natural killer cell count	OMIM:616050
Retinitis Pigmentosa 70	Pallor	OMIM:615922
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Eosinophilia	OMIM:253600
Sickle Cell Anemia	Increased red cell sickling tendency, Cholelithiasis, Leukocytosis, Splenomegaly, Hepatomegaly, J...	OMIM:603903
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Thrombocytosis, Perianal abscess, Hypochromic anemia, Leukocytosis	OMIM:618213
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Anemia,...	OMIM:304790
Optic Atrophy 1	Pallor	OMIM:165500
Celiac Disease, Susceptibility To, 1	Thrombocytosis, Iron deficiency anemia, Macrocytic anemia	OMIM:212750
Coproporphyria, Hereditary	Splenomegaly, Hepatomegaly, Jaundice	OMIM:121300
Thiamine-Responsive Megaloblastic Anemia Syndrome	Pallor, Megaloblastic anemia, Thrombocytopenia	ORPHA:49827
Dysplastic Cortical Hyperostosis	Splenomegaly, Hepatomegaly	ORPHA:2204
Immunodeficiency 60 And Autoimmunity	Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly	OMIM:618394
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Eosinophilia, Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Hepatitis, Lympho...	ORPHA:169160
Imerslund-Gräsbeck Syndrome	Pancytopenia, Hypersegmentation of neutrophil nuclei, Reticulocytosis, Megaloblastic anemia, Abno...	ORPHA:35858
Gaucher Disease Type 2	Splenomegaly, Hepatomegaly	ORPHA:77260
Caspase 8 Deficiency	Decreased CD4:CD8 ratio, Splenomegaly, Lymphadenopathy	OMIM:607271
Immunodeficiency 36	Chronic lymphatic leukemia, Splenomegaly, Lymphopenia	OMIM:616005
Dermatitis, Atopic	Pallor, Dry skin, Facial erythema	OMIM:603165
Icf Syndrome	Communicating hydrocephalus, Abnormality of neutrophils, Anemia, Abnormality of chromosome stabil...	ORPHA:2268
Congenital Disorder Of Glycosylation, Type Ik	Splenomegaly, Hepatomegaly	OMIM:608540
Spondylometaphyseal Dysplasia, Axial	Splenomegaly	OMIM:602271
Amyloidosis, Familial Visceral	Splenomegaly, Hepatomegaly, Cholestasis	OMIM:105200
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Occipital cortical atrophy, Anophthalmia, Hypoplasia of the corpus callosum	ORPHA:411986
Tularemia	Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Cutaneous abscess, Cervical lymphadenop...	ORPHA:3392
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
Acute Monoblastic/Monocytic Leukemia	Hypochromic anemia, Leukocytosis, Cervical lymphadenopathy, Anemia, Acute monocytic leukemia, Lym...	ORPHA:514
Pseudo-Torch Syndrome 3	Lymphadenitis, Leukocytosis, Anemia, Cardiomegaly, Congenital thrombocytopenia	OMIM:618886
Cholestasis-Lymphedema Syndrome	Splenomegaly, Hepatomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease	OMIM:214900
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive	Eosinophilia	OMIM:618282
Trisomy 13	Anophthalmia, Intrauterine growth retardation, Patent ductus arteriosus, Hydrops fetalis, Microph...	ORPHA:3378
Evans Syndrome	Petechiae, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of a...	ORPHA:1959
Radial-Renal Syndrome	Chromosome breakage	OMIM:179280
Trichohepatoenteric Syndrome 1	Abnormality of the pancreas, Cholestasis, Thrombocytosis, Hepatomegaly, Jaundice, Cirrhosis, Hepa...	OMIM:222470
Fragile X Syndrome	Folate-dependent fragile site at Xq28	OMIM:300624
Pfapa Syndrome	Lymphadenopathy, Splenomegaly, Hepatomegaly	ORPHA:42642
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:54057
Farber Lipogranulomatosis	Splenomegaly, Hepatomegaly, Lipogranulomatosis	OMIM:228000
Infantile Sialic Acid Storage Disease	Vacuolated lymphocytes, Splenomegaly, Hepatomegaly, Ascites, Cardiomegaly	OMIM:269920
Cinca Syndrome	Leukocytosis, Splenomegaly, Hepatomegaly, Abnormality of neutrophils, Anemia, Lymphadenopathy, Ab...	ORPHA:1451
Fetal Gaucher Disease	Pancytopenia, Splenomegaly, Hepatomegaly, Abnormality of the spleen, Thrombocytopenia	ORPHA:85212
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Hepatomegaly, Jaundice, Splenomegaly	OMIM:608885
Glycogen Storage Disease Vii	Reticulocytosis, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemolytic anemia	OMIM:232800
Congenital Toxoplasmosis	Cerebral calcification, Intrauterine growth retardation, Hepatomegaly, Jaundice, Microphthalmia, ...	ORPHA:858
Fanconi Anemia, Complementation Group U	Microcephaly, Chromosome breakage, Patent ductus arteriosus	OMIM:617247
Phosphoglycerate Kinase 1 Deficiency	Reticulocytosis, Hemolytic anemia	OMIM:300653
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Pallor	ORPHA:2786
Adult-Onset Still Disease	Leukocytosis, Bone marrow hypocellularity, Neutrophilia, Splenomegaly, Hepatomegaly, Generalized ...	ORPHA:829
Retinitis Pigmentosa 27	Pallor	OMIM:613750
Neonatal Lupus Erythematosus	Pancytopenia, Abnormality of the liver, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Hemolyti...	ORPHA:398124
Lysosomal Acid Lipase Deficiency	Hepatic steatosis, Leukopenia, Hepatosplenomegaly, Periportal fibrosis, Portal hypertension, Hepa...	OMIM:278000
O'Sullivan-Mcleod Syndrome	Eosinophilia	ORPHA:99965
Congenital Disorder Of Glycosylation, Type Iio	Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, Cholestatic liver di...	OMIM:616828
Roifman Syndrome	Eosinophilia, Splenomegaly, Hepatomegaly, Lymphadenopathy	OMIM:616651
Fanconi Anemia, Complementation Group Q	Chromosome breakage, Bone marrow hypocellularity	OMIM:615272
Microgastria-Limb Reduction Defects Association	Absent gallbladder, Anophthalmia, Splenogonadal fusion, Fusion of the left and right thalami, Age...	OMIM:156810
Congenital Rubella Syndrome	Splenomegaly, Hepatomegaly, Jaundice, Anemia, Thrombocytopenia	ORPHA:290
Nephronophthisis 19	Cholestasis, Bile duct proliferation, Splenomegaly, Hepatomegaly, Hepatic fibrosis	OMIM:616217
Eosinophilic Gastroenteritis	Anemia, Leukocytosis, Eosinophilia, Ascites	ORPHA:2070
Cholesteryl Ester Storage Disease	Cirrhosis, Splenomegaly, Hepatomegaly, Jaundice	ORPHA:75234
Kcnq2-Related Epileptic Encephalopathy	Cerebral edema, Cerebral atrophy, Abnormal globus pallidus morphology, Facial erythema, Hypoplasi...	ORPHA:439218
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphadenopathy, Lymphocytosis, Thrombocytopenia, Decreased mean platelet volume	OMIM:617718
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Splenomegaly, Increased mean platelet volume, Stomatocytosis	OMIM:153670
Immunodeficiency With Hyper-Igm, Type 1	Sclerosing cholangitis, Absence of lymph node germinal center, Chronic hepatitis, Splenomegaly, H...	OMIM:308230
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities	Eosinophilia	OMIM:618092
Immunodeficiency 89 And Autoimmunity	Hypochromic microcytic anemia, Decreased eosinophil count	OMIM:619632
Lipodystrophy, Congenital Generalized, Type 3	Hepatic steatosis, Hepatosplenomegaly, Hepatomegaly, Splenomegaly	OMIM:612526
Anophthalmia Plus Syndrome	Spina bifida, Anophthalmia	ORPHA:1104
Ataxia-Telangiectasia	Abnormality of chromosome stability, Lymphopenia	ORPHA:100
Mevalonic Aciduria	Splenomegaly	ORPHA:29
Retinitis Pigmentosa 73	Pallor	OMIM:616544
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Splenomegaly	ORPHA:90037
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenop...	OMIM:616100
Myelofibrosis	Myeloproliferative disorder, Splenomegaly	OMIM:254450
Neuroleptic Malignant Syndrome	Thrombocytosis, Leukocytosis, Thrombocytopenia	ORPHA:94093
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Felty Syndrome	Abnormal lymphocyte morphology, Bone marrow hypocellularity, Splenomegaly, Hepatomegaly, Neutrope...	ORPHA:47612
Gaucher Disease, Type I	Pancytopenia, Splenomegaly, Hepatomegaly, Anemia, Hypersplenism, Thrombocytopenia	OMIM:230800
Fish-Eye Disease	Lymphadenopathy, Splenomegaly, Hepatomegaly	ORPHA:79292
Roifman Syndrome	Eosinophilia, Hepatosplenomegaly, Lymphadenopathy	ORPHA:353298
Ghosal Hematodiaphyseal Dysplasia	Bone marrow hypocellularity, Leukopenia, Thrombocytopenia, Refractory anemia	OMIM:231095
Ornithine Transcarbamylase Deficiency	Splenomegaly	ORPHA:664
Hereditary Chronic Pancreatitis	Pancreatic calcification, Leukocytosis, Recurrent pancreatitis, Jaundice	ORPHA:676
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Cerebral calcification, Megaloblastic anemia, Pallor, Thrombocytopenia	ORPHA:90045
Chediak-Higashi Syndrome	Leukopenia, Giant neutrophil granules, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Ne...	OMIM:214500
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive	Eosinophilia	OMIM:618523
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hepatomegaly, Microcephaly, Anemia, Pallor, Abnormal cerebral white matter morphology	OMIM:246450
Neuraminidase Deficiency	Vacuolated lymphocytes, Splenomegaly, Hepatomegaly, Bone-marrow foam cells, Ascites, Cardiomegaly	OMIM:256550
Proteus Syndrome	Splenomegaly, Lymphangioma	OMIM:176920
Hemochromatosis, Type 2A	Cirrhosis, Splenomegaly, Hepatomegaly	OMIM:602390
Trisomy 1Q	Anophthalmia, Agenesis of corpus callosum, Patent ductus arteriosus, Hydrops fetalis, Polyhydramn...	ORPHA:261344
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant	Eosinophilia, Cutaneous abscess	OMIM:147060
Cholestasis-Lymphedema Syndrome	Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice, Biliary tract abnormality, Acholic sto...	ORPHA:1414
Hurler-Scheie Syndrome	Abnormality of the tonsils, Splenomegaly, Hepatomegaly	ORPHA:93476
Wilson Disease	Hepatic steatosis, Cirrhosis, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Hepatitis, Acute hepa...	ORPHA:905
Sézary Syndrome	Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:3162
Congenital Erythropoietic Porphyria	Leukopenia, Anisocytosis, Splenomegaly, Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis,...	ORPHA:79277
Hemophagocytic Syndrome Associated With An Infection	Pancytopenia, Hemophagocytosis, Splenomegaly, Abnormal natural killer cell count, Hepatomegaly, N...	ORPHA:158048
Cholestasis, Progressive Familial Intrahepatic, 3	Bile duct proliferation, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Portal f...	OMIM:602347
Immunodeficiency, Common Variable, 2	Lymphadenopathy, Follicular hyperplasia, Splenomegaly, Hepatomegaly	OMIM:240500
Spontaneous Periodic Hypothermia	Pallor, Aplasia/Hypoplasia of the corpus callosum	ORPHA:29822
Sclerosing Cholangitis, Neonatal	Biliary cirrhosis, Sclerosing cholangitis, Portal hypertension, Cholestasis, Splenomegaly, Hepato...	OMIM:617394
Delta-Beta-Thalassemia	Microcytic anemia, Anemia, Abnormal hemoglobin	ORPHA:231237
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Eosinophilia, Reduced red cell adenosine deaminase level, Autoimmune thrombocytopenia, Autoimmune...	OMIM:102700
Leukocyte Adhesion Deficiency	Leukocytosis, Impaired neutrophil chemotaxis, Bone marrow hypocellularity, Impaired platelet aggr...	ORPHA:2968
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Portal hypertension, Cholestasis, Splenomegaly, Hepatomegaly, Jaundice	ORPHA:59303
Neu-Laxova Syndrome 1	Short umbilical cord, Intrauterine growth retardation, Patent ductus arteriosus, Agenesis of corp...	OMIM:256520
Immunodeficiency 49	Eosinophilia, Lymphopenia	OMIM:617237
Familial Cold Autoinflammatory Syndrome 1	Leukocytosis	OMIM:120100
Autoinflammation With Arthritis And Dyskeratosis	Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly	OMIM:617388
Walker-Warburg Syndrome	Abnormal cortical gyration, Anophthalmia, Agenesis of corpus callosum, Microphthalmia, Microcepha...	ORPHA:899
Niemann-Pick Disease, Type A	Microcytic anemia, Splenomegaly, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundic...	OMIM:257200
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Pallor, Maternal diabetes, Hepatomegaly, Diffuse pancreatic islet hyperplasia	ORPHA:276580
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Coloboma, Type II lissencephaly, Hydrocephalus	ORPHA:324416
Fumarase Deficiency	Cerebral atrophy, Hepatic failure, Agenesis of corpus callosum, Cholestasis, Open operculum, Micr...	OMIM:606812
Matthew-Wood Syndrome	Anophthalmia, Intrauterine growth retardation, Abnormal spleen morphology, Microphthalmia, Annula...	ORPHA:2470
Cockayne Syndrome Type 2	Anophthalmia, Subcortical white matter calcifications, Intrauterine growth retardation, Hepatomegaly	ORPHA:90322
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Reticulocytosis, Hemolytic anemia, Decreased hemoglobin concentration	ORPHA:713
Immunodeficiency 25	Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia	OMIM:610163
Proteasome-Associated Autoinflammatory Syndrome 4	Lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly	OMIM:619183
Transaldolase Deficiency	Pancytopenia, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Cirrhosis, Micronodular cir...	OMIM:606003
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Splenomegaly, Macrocytic anemia	OMIM:619046
Combined Immunodeficiency Due To Crac Channel Dysfunction	Splenomegaly, Hepatomegaly, Hemolytic anemia, Lymphadenopathy, Thrombocytopenia	ORPHA:169090
Fetal Akinesia Deformation Sequence 1	Short umbilical cord, Intrauterine growth retardation, Cavum septum pellucidum, Absent septum pel...	OMIM:208150
Immunodeficiency, Common Variable, 7	Splenomegaly	OMIM:614699
Classic Hodgkin Lymphoma	Hepatomegaly, Lymphadenopathy, Splenomegaly, Bone marrow hypocellularity	ORPHA:391
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Pallor, Pancreatic islet-cell hyperplasia	ORPHA:276608
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Splenomegaly, Chronic lymphatic leukemia, Jaundice	ORPHA:90033
Gaucher Disease Type 1	Pancytopenia, Leukopenia, Biliary tract obstruction, Splenomegaly, Hepatomegaly, Anemia, Ascites,...	ORPHA:77259
Diffuse Neonatal Hemangiomatosis	Patent ductus arteriosus, Hydrops fetalis, Hepatomegaly, Anemia, Polyhydramnios, Premature birth,...	ORPHA:2123
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Pallor, Focal pancreatic islet hyperplasia, Diffuse pancreatic islet hyperplasia	ORPHA:276575
Letterer-Siwe Disease	Hepatosplenomegaly, Neutropenia, Anemia, Pallor, Thrombocytopenia	OMIM:246400
Erythrocytosis, Familial, 5	Increased hemoglobin, Increased hematocrit, Polycythemia	OMIM:617907
Erythrocytosis, Familial, 6	Increased hemoglobin, Increased hematocrit, Polycythemia	OMIM:617980
Cyclic Vomiting Syndrome	Pallor, Microcephaly	OMIM:500007
Microphthalmia, Isolated 3	Microphthalmia, Anophthalmia

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