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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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.

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Immunodeficiency 69
Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy... OMIM:618963
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary... OMIM:615285
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia OMIM:620534
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto... OMIM:614470
Thrombocythemia 1
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Imp... OMIM:187950
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Thrombocythemia 3
Thrombocytosis OMIM:614521
Asplenia, Isolated Congenital
Howell-Jolly bodies, Thrombocytosis, Asplenia OMIM:271400
Thrombocythemia 2
Thrombocytosis OMIM:601977
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi... ORPHA:75564
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Diamond-Blackfan Anemia 12
Reticulocytopenia, Elevated red cell adenosine deaminase activity, Normochromic anemia, Macrocyti... OMIM:615550
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis OMIM:603529
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Hypochromia, Anemia, Decreased mean corpuscular volume OMIM:205950
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Monocytosis, Bone marrow hypocellularity, Leukopenia, Refractory anemia OMIM:616871
Immunodeficiency 27A
Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged mesenteric lymp... OMIM:209950
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Dysplasia Of Head Of Femur, Meyer Type
Enlarged tonsils, Leukocytosis ORPHA:168621
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ... ORPHA:86841
Diamond-Blackfan Anemia 4
Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia, Neutropenia OMIM:612527
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Anemia, Abnormal lymph node morphology, Leukocytosis, Abnormality of thrombocytes, ... OMIM:612840
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic... ORPHA:67044
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,... OMIM:616689
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia, Anemia of inadequate production, Reticulocytosis, Poikilocytosis, Anisocytosis, Splenomeg... OMIM:615631
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis OMIM:619281
Essential Thrombocythemia
Acute leukemia, Leukocytosis, Abnormality of thrombocytes, Abnormal platelet morphology, Splenome... ORPHA:3318
Primary Myelofibrosis
Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Extramedullary hematopoiesis, Leukocytosis, ... ORPHA:824
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Sterile abscess, Pancytopenia, Hepatosplenomegaly, Thrombocytosis, Microcytic anemia OMIM:604416
Diamond-Blackfan Anemia 5
Leukopenia, Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia OMIM:612528
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Reticulocytosis, Abnormal mean corpuscular v... ORPHA:3203
Fanconi Anemia, Complementation Group T
Anemia, Acute myeloid leukemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Chro... OMIM:616435
Eosinophilia, Familial
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis OMIM:131400
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Increased RBC distribution width, Megaloblastic anemia, Megalo... OMIM:261000
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Anisocytosis, Hypochromic microcytic anemia OMIM:206200
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... OMIM:616216
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Myelofibrosis
Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop... OMIM:254450
Immunodeficiency 15B
Monocytosis, Reduced natural killer cell count OMIM:615592
Idiopathic Aplastic Anemia
Anemia, Pancytopenia, Reticulocytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia ORPHA:88
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia OMIM:620044
Fanconi Anemia, Complementation Group G
Anemia, Abnormality of chromosome stability, Thrombocytopenia, Leukemia, Neutropenia OMIM:614082
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Hepatomegaly, Splenomegaly OMIM:606445
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... OMIM:133180
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, An... OMIM:617780
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia OMIM:183350
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Impaired platelet aggregation, Poikilocytosis, Bone marrow hypocellularity, El... OMIM:300835
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Hepatomegaly, Myeloproliferative disorder, Splenomegaly OMIM:607685
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis OMIM:619398
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612563
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid... OMIM:237800
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Fanconi Anemia, Complementation Group V
Anemia, Neutropenia, Bone marrow hypocellularity, Thrombocytopenia, Chromosomal breakage induced ... OMIM:617243
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos... ORPHA:846
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Acute Myelomonocytic Leukemia
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis ORPHA:517
Trimethylaminuria
Anemia, Splenomegaly, Neutropenia OMIM:602079
Immunodeficiency 88
Eosinophilia OMIM:619630
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Rh-Null, Amorph Type
Stomatocytosis, Anisocytosis, Hemolytic anemia, Reticulocytosis OMIM:617970
Adult Idiopathic Neutropenia
Monocytopenia, Monocytosis, Neutropenia, Lymphopenia ORPHA:2688
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Anemia, Reticulocytopenia, Dysplastic erythropoesis, Hepatosplenomegaly, Dec... ORPHA:300298
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anemia, Hypochromia, Anisocytosis, Hepatosplenomegaly, Splenomegaly, Decreased mean corpuscular v... OMIM:616860
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:300946
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope... ORPHA:444463
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Immunodeficiency 84
B lymphocytopenia, Splenomegaly, Perianal abscess OMIM:619437
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Heme Oxygenase 1 Deficiency
Hepatomegaly, Lymphadenopathy, Asplenia, Coombs-positive hemolytic anemia, Thrombocytosis, Cervic... OMIM:614034
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly OMIM:206400
Aregenerative Anemia
Erythroid hypoplasia, Pancytopenia, Abnormal proportion of CD8-positive T cells, Reticulocytopeni... ORPHA:101096
Familial Pseudohyperkalemia
Increased mean corpuscular volume, Stomatocytosis, Reticulocytosis, Episodic hemolytic anemia ORPHA:90044
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Immunodeficiency 32B
Hepatomegaly, Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, ... OMIM:226990
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Immunodeficiency 92
Hepatomegaly, Cholangitis, Sclerosing cholangitis, Decreased proportion of class-switched memory ... OMIM:619652
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Neutrophilia, Thrombocytopenia, Hepatosplenomega... OMIM:619644
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Bone marrow hypocellulari... OMIM:618849
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Fanconi Anemia, Complementation Group E
Anemia, Pancytopenia, Chromosomal breakage induced by crosslinking agents, Deficient excision of ... OMIM:600901
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Reticuloendotheliosis, X-Linked
Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly OMIM:312500
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, Reticulocytosis... OMIM:224120
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Spherocytosis, Type 5
Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia... OMIM:612690
Fanconi Anemia, Complementation Group A
Anemia, Pancytopenia, Chromosomal breakage induced by crosslinking agents, Deficient excision of ... OMIM:227650
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Increased mean corpuscular volume, Poikilocytosis, Anisocytosis, Abnormal erythrocyte mor... ORPHA:98870
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula... ORPHA:3202
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Anemia, Anemia of inadequate production, Persistence of hemoglobin F, Reticul... OMIM:613673
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability, Pancytopenia OMIM:600546
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Anemia, Hypochromic Microcytic, With Iron Overload 1
Erythroid hyperplasia, Hypochromia, Anemia, Decreased mean corpuscular volume OMIM:206100
Pyknoachondrogenesis
Stillbirth OMIM:265880
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly OMIM:224100
Sickle Cell Anemia
Chronic hemolytic anemia, Jaundice, Iron deficiency anemia, Cholelithiasis, Increased mean corpus... ORPHA:232
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia,... ORPHA:486
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Hemophagocytic Lymphohistiocytosis, Familial, 4
Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly... OMIM:603552
Transcobalamin Ii Deficiency
Anemia, Erythroid hypoplasia, Macrocytic anemia, Pancytopenia, Reticulocytopenia, Neutropenia OMIM:275350
Gray Platelet Syndrome
Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly ORPHA:721
Hereditary Spherocytosis
Jaundice, Anemia, Hepatomegaly, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp... ORPHA:822
Beta-Thalassemia Intermedia
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Anemia of inadequate production, Hepatocellula... ORPHA:231222
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Fanconi Anemia, Complementation Group C
Anemia, Pancytopenia, Chromosomal breakage induced by crosslinking agents, Deficient excision of ... OMIM:227645
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Anisocytosis, ... OMIM:300908
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Hemophagocytic Lymphohistiocytosis, Familial, 3
Granulocytopenia, Anemia, Hemophagocytosis, Hepatosplenomegaly OMIM:608898
Immunodeficiency 52
Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ... OMIM:617514
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly OMIM:607616
Immunodeficiency 76
Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia OMIM:619164
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Reduced erythrocyte gamma-glutamyl cysteine synthetase activity, Hemolytic anemia, Reticulocytosis OMIM:230450
Transcobalamin Deficiency
Pancytopenia, Abnormality of chromosome stability, Thrombocytopenia, Lymphopenia, Neutropenia ORPHA:859
Overhydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Reticulocytosis, Splenomegaly, Stomatocytosis, Hemolytic anemia OMIM:185000
Immunodeficiency 21
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu... OMIM:614172
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormal platelet function, Splenomegaly, Acute mye... ORPHA:2585
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Megaloblastic anemia, Thrombocytopenia, Pancytopenia OMIM:613839
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,... OMIM:212050
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Immunodeficiency 104
Lymphadenopathy, Hepatomegaly, Splenomegaly, T lymphocytopenia OMIM:608971
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia OMIM:618852
Osteopetrosis, Autosomal Recessive 2
Anemia, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Extramedullary hematopoiesis OMIM:259710
Kimura Disease
Follicular hyperplasia, Eosinophilia, Lymphadenopathy ORPHA:482
Fanconi Anemia, Complementation Group D1
T-cell acute lymphoblastic leukemias, Bone marrow hypocellularity, Acute myeloid leukemia, Chromo... OMIM:605724
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Hemophagocytosis, Medi... OMIM:619802
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ... OMIM:616959
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t... OMIM:615513
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Neutropenia in presence o... OMIM:619220
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Anemia, Increased mean corpuscular volume, Sideroblastic anemia, Thrombocytopenia, Erythroid hype... OMIM:617021
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... OMIM:314050
Immunodeficiency 11A
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells OMIM:615206
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Anemia, B lymphocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Leukopenia, Thrombocyt... ORPHA:508542
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Splenomegaly, Abnormal B cell count ORPHA:100024
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Intestinal lymphangiectasia, Anemia, Iron deficiency anemia, Hepatomegaly, Ascites, Thrombocytosis OMIM:226300
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Immunodeficiency 48
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Splenomegaly, Abnormal ... OMIM:269840
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemia... OMIM:258900
Diamond-Blackfan Anemia 10
Reticulocytopenia, Steroid-responsive anemia, Anemia, Macrocytic anemia OMIM:613309
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Hepatomegaly, Leukocytosis, Neutrophilia, Splenomegaly, Autoimmune t... OMIM:620565
Rh Deficiency Syndrome
Macrocytic anemia, Hypochromia, Spherocytosis, Reticulocytosis, Anisocytosis, Hepatosplenomegaly,... ORPHA:71275
Familial Thrombocytosis
Thrombocytosis, Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia ORPHA:71493
Generalized Eruptive Histiocytosis
Hypereosinophilia, Histiocytosis, Leukemia ORPHA:157991
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Leukopenia, Hepatosplenomegaly... OMIM:618986
Polycythemia Vera
Acute leukemia, Hepatomegaly, Leukocytosis, Portal hypertension, Portal vein thrombosis, Polycyth... ORPHA:729
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Hemophagocytosis, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly OMIM:613101
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Lymphadenopathy, B lymphocytopenia, Abscess, Intermittent thrombocytopenia, Splenomegaly, Abnorma... OMIM:150550
Immunodeficiency 54
Chromosome breakage, Reduced natural killer cell count, Splenomegaly OMIM:609981
Breath-Holding Spells
Pallor, Iron deficiency anemia OMIM:607578
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612126
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Fanconi Anemia, Complementation Group D2
Anemia, Pancytopenia, Chromosomal breakage induced by crosslinking agents, Deficient excision of ... OMIM:227646
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly ORPHA:66661
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant... OMIM:601859
Cryohydrocytosis
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:185020
Placental Insufficiency
Abnormal placenta morphology, Abnormal umbilical cord blood vessel morphology, Small placenta, In... ORPHA:439167
Sting-Associated Vasculopathy, Infantile-Onset
Anemia, Paratracheal lymphadenopathy, Leukopenia, Lymphopenia, Thrombocytosis, Follicular hyperpl... OMIM:615934
N Syndrome
Abnormality of chromosome stability, Leukemia OMIM:310465
Anemia, Sideroblastic, 1
Hypochromic microcytic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production,... OMIM:300751
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypersplenism OMIM:610539
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Leukocyt... OMIM:243150
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Decreased methylmalonyl-CoA mutase activity, Megaloblastic anemia OMIM:277410
Alpha-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly ORPHA:100025
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology ORPHA:1164
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia... OMIM:235700
Elliptocytosis 3
Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia, Decreased mean corpuscular volume OMIM:617948
Immunodeficiency 7
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut... OMIM:615387
Bone Marrow Failure Syndrome 2
Bone marrow hypocellularity, Thrombocytopenia, Anemia, Leukopenia OMIM:615715
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly OMIM:617441
Fanconi Anemia, Complementation Group S
Chromosome breakage, Anemia OMIM:617883
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Majeed Syndrome
Anemia of inadequate production, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid... OMIM:609628
Diamond-Blackfan Anemia
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... ORPHA:124
Aicardi-Goutieres Syndrome 6
Hepatomegaly, Thrombocytopenia, Splenomegaly, Hemolytic anemia OMIM:615010
Eosinophilic Fasciitis
Eosinophilia, Abnormal eosinophil morphology ORPHA:3165
Spherocytosis, Type 4
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612653
Dominant Beta-Thalassemia
Cirrhosis, Jaundice, Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concent... ORPHA:231226
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Perianal abscess, Hepatomegaly, Anemia, Erythroid hypoplasia, Hypoplasia of the thymus, Leukopeni... OMIM:612541
Pearson Marrow-Pancreas Syndrome
Refractory sideroblastic anemia, Anemia, Pancytopenia, Reticulocytopenia, Sideroblastic anemia, T... OMIM:557000
Anemia, Hypochromic Microcytic, With Iron Overload 2
Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Splenomegaly, Decreased mean corpuscul... OMIM:615234
Fanconi Anemia, Complementation Group R
Bone marrow hypocellularity, Anemia, Chromosomal breakage induced by crosslinking agents OMIM:617244
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Anemia, Hypochromic microcytic anemia, Howell-Jolly bodies, Poikilocytosis, Sideroblastic anemia,... OMIM:301310
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly OMIM:259730
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Hepatomegaly, Choleli... OMIM:266200
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
Schnitzler Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Splenomegaly ORPHA:37748
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly ORPHA:158029
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Anisocytosis OMIM:604273
Thrombocytopenia 7
Impaired ADP-induced platelet aggregation, Reduced platelet alpha granules, Impaired collagen-ind... OMIM:619130
Cinca Syndrome
Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Eosinophilia OMIM:607115
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:615085
Immunodeficiency 109 With Lymphoproliferation
Generalized lymphadenopathy, Absent circulating B cells, Splenomegaly, Pancytopenia OMIM:620282
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Lymphadenopathy, Decreased proportion of CD4-positive helper T cells... OMIM:300853
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Hepatomegaly, Splenomegaly OMIM:619462
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Coombs-posi... OMIM:619375
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis OMIM:618042
Beta-Thalassemia Major
Anisopoikilocytosis, Cirrhosis, Jaundice, Hypochromic microcytic anemia, Hepatomegaly, Decreased ... ORPHA:231214
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Thrombocytopenia, Splenomegaly OMIM:620367
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Leukocytosis, Splenomegaly OMIM:611762
Spherocytosis, Type 2
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia OMIM:616649
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr... OMIM:133100
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat... OMIM:618534
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Anemia, Hypochromic microcytic anemia, Pancytopenia, Leukocytosis, Ascites, Hepatos... OMIM:259720
Spherocytosis, Type 1
Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:182900
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Congenital Bile Acid Synthesis Defect Type 2
Jaundice, Giant cell hepatitis, Hepatomegaly, Cholestasis, Prolonged neonatal jaundice, Abnormal ... ORPHA:79303
Tyrosinemia Type 1
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly ORPHA:882
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Pancytopenia, Macrocytic anemia, Neutropenia ORPHA:2169
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Reduced erythrocyte adenosine triphosphate concentration, Reticulocytosis, Erythroid hyperplasia,... OMIM:301083
Bone Marrow Failure Syndrome 3
Aplastic anemia, Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume,... OMIM:617052
Thrombocytopenia 2
Abnormal platelet shape, Thrombocytopenia, Leukocytosis, Abnormal platelet volume OMIM:188000
Unclassified Myelodysplastic Syndrome
Bone marrow hypocellularity, Leukocytosis, Acute myeloid leukemia ORPHA:98827
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Leukocytosis, Portal hypertension, Bone marr... OMIM:615688
Hb Bart'S Hydrops Fetalis
Anemia, Hydrocephalus, Splenomegaly, Abnormal hemoglobin, Pallor ORPHA:163596
Glutamate-Cysteine Ligase Deficiency
Jaundice, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis ORPHA:33574
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia OMIM:619523
Harderoporphyria
Hepatomegaly, Reticulocytosis, Prolonged neonatal jaundice, Splenomegaly, Hemolytic anemia OMIM:618892
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Acute Peripheral Arterial Occlusion
Leukocytosis ORPHA:90064
Immunodeficiency 96
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells OMIM:619774
Beta-Thalassemia
Skin ulcer, Anemia, Hepatomegaly, Cholelithiasis, Thrombocytopenia, Splenomegaly, Abnormal hemogl... ORPHA:848
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ... OMIM:301078
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i... OMIM:603909
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:105650
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly OMIM:611721
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Anemia, Splenomegaly, Hepatic fibrosis OMIM:613313
Poems Syndrome
Hepatomegaly, Lymphadenopathy, Visceromegaly, Ascites, Polycythemia, Splenomegaly, Thrombocytosis ORPHA:2905
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, Fu... OMIM:308240
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni... OMIM:613011
Fanconi Anemia, Complementation Group J
Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking agents OMIM:609054
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Decreased mean corpuscular volume, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis OMIM:611590
Leishmaniasis
Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Abnormal macrophage morphology, Leukopenia, ... ORPHA:507
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly OMIM:611490
Indolent Systemic Mastocytosis
Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega... ORPHA:98848
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Splenomegaly, Hepatitis OMIM:300635
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatomegaly, Hepatic steatosis, Splenomegaly OMIM:614480
Galactose Epimerase Deficiency
Jaundice, Splenomegaly, Hepatomegaly ORPHA:79238
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, B lymphocytopenia, Bone marrow hypocellularity, Reduced natural killer cell count, ... OMIM:620133
Microphthalmia/Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Beta-Ketothiolase Deficiency
Thrombocytosis, Leukocytosis, Hepatomegaly ORPHA:134
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp... OMIM:603554
Interstitial Lung And Liver Disease
Cirrhosis, Hepatomegaly, Anemia, Cholestasis, Hepatic fibrosis, Thrombocytosis, Hepatic steatosis OMIM:615486
Wells Syndrome
Eosinophilia ORPHA:901
Cyclic Neutropenia
Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Lymphopenia, Tooth abscess, Thrombocyto... ORPHA:2686
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly OMIM:610333
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ... ORPHA:86839
Wolman Disease
Hepatomegaly, Splenomegaly OMIM:620151
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Microphthalmia, Anophthalmia OMIM:611638
Progressive Familial Intrahepatic Cholestasis
Jaundice, Hepatomegaly, Cholestasis, Splenomegaly, Abnormality of thrombocytes ORPHA:172
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Hepatomegaly, Abnormal neutrophil count, Lymphadenopathy, Myeloproliferative diso... ORPHA:3226
Fryns Microphthalmia Syndrome
Microphthalmia, Neural tube defect, Anophthalmia OMIM:600776
Sandhoff Disease
Hepatomegaly, Splenomegaly ORPHA:796
Immunodeficiency, Common Variable, 1
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt... OMIM:607594
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension OMIM:610293
Cogan Syndrome
Thrombocytosis, Anemia, Leukocytosis ORPHA:1467
Fanconi Anemia, Complementation Group P
Chromosomal breakage induced by crosslinking agents, Anemia, Pancytopenia OMIM:613951
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi... ORPHA:169154
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
3-Hydroxy-3-Methylglutaric Aciduria
Jaundice, Anemia, Hepatomegaly, Acute pancreatitis, Leukocytosis, Leukopenia, Thrombocytosis, Lip... ORPHA:20
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Decrease... OMIM:615559
Griscelli Syndrome Type 2
Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Splenomegaly, Neutropenia ORPHA:79477
Idiopathic Hypereosinophilic Syndrome
Anemia, Portal fibrosis, Cholangitis, Generalized lymphadenopathy, Pancreatitis, Myeloproliferati... ORPHA:3260
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Iron deficiency anemia, Thrombocytosis, Lymphocytosis, Decreased proportion of ... OMIM:301074
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Anemia, Impaired platelet aggregation, Thrombocytopenia, ... OMIM:187800
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Anemia, Increased mean corpuscular volume, Bone marrow hypocellularity, Leukopen... OMIM:127550
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Pancreatitis, Anemia, Thrombocytopenia, Splenomegaly, Neutropenia ORPHA:79312
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Babesiosis
Jaundice, Hepatomegaly, Thrombocytopenia, Leukopenia, Splenomegaly, Hemolytic anemia ORPHA:108
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Anemia, Hemophagocytosis, Pancytopenia OMIM:618398
Gaucher Disease, Type Iii
Hepatomegaly, Thrombocytopenia, Splenomegaly, Pancytopenia OMIM:231000
Galactosemia Iii
Jaundice, Splenomegaly, Hepatomegaly OMIM:230350
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilia, Hepatosplenomegaly, Hepatic cysts, Eosinophilic liver infiltration OMIM:618999
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired... OMIM:613470
Meckel Syndrome, Type 8
Occipital encephalocele, Microphthalmia, Encephalocele, Anophthalmia, Anhydramnios OMIM:613885
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia OMIM:616738
Microphthalmia, Syndromic 12
Microphthalmia, Neonatal death, Anophthalmia OMIM:615524
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Decreased CD4:CD8 ratio OMIM:618495
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Autoerythrocyte Sensitization Syndrome
Autoimmune thrombocytopenia, Thrombocytosis, Abnormal erythrocyte morphology, Impaired platelet a... ORPHA:324636
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Lymphoproliferative Syndrome 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Ascites, Hepatosp... OMIM:615122
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Sideroblastic anemia, Pallor, Hepatomegaly, Elevated circulating hepatic transaminase concentration OMIM:613561
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Splenomegaly, Portal hypertension OMIM:617068
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia ORPHA:494444
Oculocerebrocutaneous Syndrome
Microphthalmia, Orbital encephalocele, Anophthalmia OMIM:164180
Peripheral Cone Dystrophy
Pallor OMIM:609021
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Anemia, Splenomegaly OMIM:618107
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Lymph node hypoplasia, Splenomegaly, Lymp... OMIM:602450
Splenoportal Vascular Anomalies
Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis OMIM:271500
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr... OMIM:194380
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612562
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Portal hypertension, Splenomegal... OMIM:616278
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Thrombocytosis, Leukocytosis, Perianal abscess OMIM:618213
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Elliptocytosis, Anisocyt... OMIM:618278
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Cholestasis, Splenomegaly, Hepatomegaly OMIM:620010
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Hepatocellular carcinoma, Ascites, Portal hypertension, Thrombocytopenia, Splenomeg... OMIM:619463
Tafro Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Ascites, Thrombocytopenia, Splenomegaly, Hep... ORPHA:457077
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Anencephaly 2
Anencephaly, Anophthalmia OMIM:619452
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Fanconi Anemia, Complementation Group O
Chromosome breakage, Neonatal death OMIM:613390
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly... ORPHA:39041
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Intrauterine growth retardation, Severe intrauterine growth retardation, Small placenta ORPHA:73272
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog... ORPHA:100026
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Pancytopenia, B lymphocytopenia, Increased proportion of effector memory CD8-positive, al... OMIM:619824
Specific Granule Deficiency 1
Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bactericida... OMIM:245480
Fgfr2-Related Bent Bone Dysplasia
Extramedullary hematopoiesis, Hepatosplenomegaly ORPHA:313855
Elliptocytosis 1
Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia OMIM:611804
Syndromic Diarrhea
Cirrhosis, Hepatomegaly, Hypoplasia of the thymus, Increased mean platelet volume, Abnormality of... ORPHA:84064
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Hepatocellular carcinoma, Acute l... ORPHA:158057
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Ascites, Anemia, Splenomegaly ORPHA:1046
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Macrocytic anemia, Reduction of neutrophil motility, Rectal abscess, Leukocytosis, Neutrophilia, ... OMIM:608203
Aggressive Systemic Mastocytosis
Anemia, Increased proportion of CD25+ mast cells, Lymphadenopathy, Pancytopenia, Leukocytosis, Po... ORPHA:98850
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Hepatomegaly, Abnormal natural killer cell count, Decreased proporti... ORPHA:331206
Congenital Syphilis
Anemia, Pancreatitis, Lymphadenopathy, Prolonged neonatal jaundice, Thrombocytopenia, Hepatosplen... ORPHA:499009
Wolman Disease
Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Splenomegaly ORPHA:75233
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Hepatomegaly, Biliary tract abnormality, Splenomegaly, Neonatal cholestatic ... ORPHA:79301
Classic Mycosis Fungoides
Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly ORPHA:2584
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Anemia, Splenomegaly OMIM:620296
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:620481
Silver-Russell Syndrome Due To A Point Mutation
Intrauterine growth retardation, Oligohydramnios, Small placenta ORPHA:397590
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Lymphadenopathy, Decreased FOXP3-expressing T cell count, Thrombocytopenia, Coombs-positi... OMIM:304790
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A... ORPHA:86843
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Leukopenia, Splenomegaly, Lymphopenia OMIM:620210
Cold Agglutinin Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly, Hemolytic anemia ORPHA:56425
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Celiac Disease, Susceptibility To, 1
Thrombocytosis, Iron deficiency anemia, Macrocytic anemia OMIM:212750
Trichohepatoenteric Syndrome 1
Cirrhosis, Jaundice, Hepatomegaly, Cholestasis, Increased mean platelet volume, Splenomegaly, Hep... OMIM:222470
Sickle Cell Disease
Jaundice, Hepatomegaly, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells, Splenomeg... OMIM:603903
Caspase 8 Deficiency
Lymphadenopathy, Decreased CD4:CD8 ratio, Splenomegaly OMIM:607271
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Jaundice, Anemia, Periportal fibrosis, Hepatocellular carci... ORPHA:64743
Immunodeficiency 114, Folate-Responsive
Hepatomegaly, Megaloblastic anemia, Thrombocytopenia, Splenomegaly, Lymphopenia OMIM:620603
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology ORPHA:545
Icf Syndrome
Anemia, Abnormality of chromosome stability, Lymphopenia, Communicating hydrocephalus, Umbilical ... ORPHA:2268
Immunodeficiency 115 With Autoinflammation
Intestinal lymphangiectasia, Anemia, T lymphocytopenia, Decreased proportion of memory T cells, S... OMIM:620632
Shwachman-Diamond Syndrome
Aplastic anemia, Normocytic anemia, Anemia, Acute myeloid leukemia, Macrocytic anemia, Pancytopen... ORPHA:811
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Brucellosis
Lung abscess, Liver abscess, Anemia, Hepatomegaly, Lymphadenopathy, Leukocytosis, Granuloma, Leuk... ORPHA:1304
Fanconi Anemia, Complementation Group F
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia, Chromosomal breakage induced b... OMIM:603467
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Evans Syndrome
Autoimmune hemolytic anemia, Petechiae, Neutropenia in presence of anti-neutropil antibodies, Pal... ORPHA:1959
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Abnormally low T cell receptor excision circle level, Eosinophilia OMIM:618092
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Abnormal lymph node mo... ORPHA:911
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Elliptocytosis 2
Elliptocytosis, Hemolytic anemia, Reticulocytosis OMIM:130600
Trichothiodystrophy 6, Nonphotosensitive
Increased HbA2 hemoglobin, Decreased mean corpuscular volume OMIM:616943
Thiamine-Responsive Megaloblastic Anemia Syndrome
Thrombocytopenia, Pallor, Megaloblastic anemia ORPHA:49827
Immunodeficiency, Common Variable, 2
Hepatomegaly, Lymphadenopathy, Abnormal T cell count, Splenomegaly, Follicular hyperplasia OMIM:240500
Fanconi Anemia, Complementation Group I
Intrauterine growth retardation, Pallor, Neutropenia, Chromosomal breakage induced by crosslinkin... OMIM:609053
Activated Pi3K-Delta Syndrome
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Splenomegaly ORPHA:397596
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis OMIM:619658
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced pl... OMIM:619271
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insufficiency, Splen... OMIM:612714
Dermatitis, Atopic
Pallor, Facial erythema, Dry skin OMIM:603165
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Gran... OMIM:618935
Autoinflammation With Infantile Enterocolitis
Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Reduced natural killer cell count OMIM:616050
Phosphoglycerate Kinase 1 Deficiency
Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis OMIM:300653
Tularemia
Cervical lymphadenopathy, Anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Leukocytosis, Thr... ORPHA:3392
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c... ORPHA:35858
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia OMIM:253600
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l... ORPHA:98849
Anal Fistula
Leukocytosis ORPHA:228113
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Hepatosplenome... OMIM:615952
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Impaired colla... OMIM:139090
Gaucher Disease Type 2
Hepatomegaly, Splenomegaly ORPHA:77260
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Splenomegaly ORPHA:2204
Griscelli Syndrome
Jaundice, Hepatomegaly, Lymphadenopathy, Ascites, Bone marrow hypocellularity, Thrombocytopenia, ... ORPHA:381
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Lymphopenia, Eosinophilia, Hepa... ORPHA:169160
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents OMIM:619060
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr... OMIM:616005
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Intrauterine growth retardation, Increased susceptibility to spontaneous sister chromatid exchange OMIM:618097
Fragile X Syndrome
Folate-dependent fragile site at Xq28 OMIM:300624
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre... OMIM:615193
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Portal fibrosis, Hepatomegaly, Splenomegaly, Acholic stools OMIM:619868
Pseudo-Torch Syndrome 3
Anemia, Lymphadenitis, Leukocytosis, Cardiomegaly, Congenital thrombocytopenia OMIM:618886
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Decreased basophil count, Splenomegaly, Pancytopenia OMIM:618394
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Neonatal cholestatic liver disease, Splenomegaly OMIM:214900
Coproporphyria, Hereditary
Jaundice, Splenomegaly, Hepatomegaly OMIM:121300
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Hypochromic anemia, Sideroblastic anemia, Microcytic anemia, Erythroid hyperplasia, Pallor, Pappe... OMIM:600462
Acute Monoblastic/Monocytic Leukemia
Cervical lymphadenopathy, Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochro... ORPHA:514
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Hepatocellular carcinoma, Splenomegaly OMIM:613490
Congenital Disorder Of Glycosylation, Type Ia
Hepatic fibrosis, Thrombocytosis, Hepatic steatosis, Hepatomegaly OMIM:212065
Trisomy 13
Microphthalmia, Hydrops fetalis, Anophthalmia, Patent ductus arteriosus, Intrauterine growth reta... ORPHA:3378
Infantile Sialic Acid Storage Disease
Hepatomegaly, Vacuolated lymphocytes, Ascites, Splenomegaly, Cardiomegaly OMIM:269920
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatomegaly, Splenomegaly OMIM:616719
Fanconi Anemia, Complementation Group L
Chromosome breakage, Anemia, Bone marrow hypocellularity, Chromosomal breakage induced by crossli... OMIM:614083
Pfapa Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:42642
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Thrombocytopenia, Reticulocytosis ORPHA:54057
Macrophage Activation Syndrome
Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Lymphadenopathy, Thro... ORPHA:158061
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Impaired ristocetin-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Incr... OMIM:153670
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Thrombocytopenia, Abnormality of the spleen, Splenomegaly ORPHA:85212
Fetal Cytomegalovirus Syndrome
Jaundice, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly, Hepatitis ORPHA:294
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Eosinophilic Gastroenteritis
Eosinophilia, Ascites, Anemia, Leukocytosis ORPHA:2070
Cinca Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Abnormal granulocyte morphology, Abnormality... ORPHA:1451
Congenital Heart Block
Hydrops fetalis, Premature birth, Patent ductus arteriosus, Intrauterine growth retardation, Pall... ORPHA:60041
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Eosinophilia OMIM:620532
Cholesteryl Ester Storage Disease
Cirrhosis, Hepatomegaly, Anemia, Periportal fibrosis, Bone-marrow foam cells, Portal hypertension... OMIM:278000
Amyloidosis, Familial Visceral
Hepatomegaly, Cholestasis, Splenomegaly OMIM:105200
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Prolonged neonatal jaundice, Copper accumulat... OMIM:616828
Neonatal Lupus Erythematosus
Aplastic anemia, Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Abnormality ... ORPHA:398124
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Glycogen Storage Disease Ixb
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content OMIM:261750
Sitosterolemia 1
Chronic hemolytic anemia, Giant platelets, Anemia, Impaired platelet aggregation, Episodic hemoly... OMIM:210250
O'Sullivan-Mcleod Syndrome
Eosinophilia ORPHA:99965
Roifman Syndrome
Eosinophilia, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:616651
Farber Lipogranulomatosis
Lipogranulomatosis, Hepatomegaly, Splenomegaly OMIM:228000
Ataxia-Telangiectasia
Abnormality of chromosome stability, Lymphopenia ORPHA:100
Bloom Syndrome
Chromosome breakage, Abnormality of chromosome stability, Elevated hemoglobin A1c, Leukemia OMIM:210900
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Ascites, Prolonged... OMIM:257200
Hydrolethalus
Microphthalmia, Polyhydramnios, Anencephaly, Anophthalmia, Premature birth ORPHA:2189
Joubert Syndrome 33
Splenomegaly OMIM:617767
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Eosinophilia OMIM:618523
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp... OMIM:619849
Fanconi Anemia, Complementation Group Q
Chromosome breakage, Bone marrow hypocellularity OMIM:615272
Anophthalmia Plus Syndrome
Anophthalmia, Spina bifida ORPHA:1104
Nephronophthisis 19
Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ... OMIM:616217
Cholesteryl Ester Storage Disease
Cirrhosis, Jaundice, Splenomegaly, Hepatomegaly ORPHA:75234
Congenital Rubella Syndrome
Jaundice, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly ORPHA:290
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Neuroleptic Malignant Syndrome
Thrombocytosis, Thrombocytopenia, Leukocytosis ORPHA:94093
Optic Atrophy 1
Pallor OMIM:165500
Fragile X Syndrome
Folate-dependent fragile site at Xq28 ORPHA:908
Mevalonic Aciduria
Splenomegaly ORPHA:29
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly OMIM:612526
Gaucher Disease, Type I
Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hypersplenism OMIM:230800
Roifman Syndrome
Eosinophilia, Hepatosplenomegaly, Lymphadenopathy ORPHA:353298
Hereditary Folate Malabsorption
Eosinophilia, Megaloblastic anemia, Thrombocytopenia, Pancytopenia ORPHA:90045
Fish-Eye Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:79292
Peeling Skin Syndrome 1
Eosinophilia OMIM:270300
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis OMIM:266120
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune... OMIM:616100
Neuraminidase Deficiency
Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Ascites, Splenomegaly, Cardiomegaly OMIM:256550
Ornithine Transcarbamylase Deficiency
Splenomegaly ORPHA:664
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Hereditary Chronic Pancreatitis
Jaundice, Leukocytosis, Pancreatic calcification, Recurrent pancreatitis ORPHA:676
Erythrocytosis, Familial, 5
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617907
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Ghosal Hematodiaphyseal Dysplasia
Bone marrow hypocellularity, Refractory anemia, Thrombocytopenia, Leukopenia OMIM:231095
Hereditary Elliptocytosis
Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundice, Elliptocy... ORPHA:288
Kawasaki Disease
Cervical lymphadenopathy, Jaundice, Leukocytosis, Thrombocytosis, Hepatitis, Cholecystitis ORPHA:2331
Fanconi Anemia, Complementation Group N
Aplastic anemia, Acute myeloid leukemia, Chromosomal breakage induced by crosslinking agents OMIM:610832
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Portal hypertension, Bili... ORPHA:1414
Felty Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Bone marrow hypocellularit... ORPHA:47612
Hurler-Scheie Syndrome
Abnormality of the tonsils, Hepatomegaly, Splenomegaly ORPHA:93476
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Immunodeficiency, Common Variable, 7
Splenomegaly OMIM:614699
Sézary Syndrome
Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly ORPHA:3162
Hemochromatosis, Type 2A
Cirrhosis, Hepatomegaly, Splenomegaly OMIM:602390
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, T lymphocytopenia OMIM:610163
Congenital Erythropoietic Porphyria
Reticulocytosis, Poikilocytosis, Anisocytosis, Leukopenia, Splenomegaly, Thrombocytopenia, Erythr... ORPHA:79277
Acute Generalized Exanthematous Pustulosis
Lymphadenopathy, Cholestasis, Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia ORPHA:293173
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Decreased proporti... OMIM:617237
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly ORPHA:59303
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:391
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Hypereosinophilia, Hepatomegaly, Splenomegaly OMIM:617388
Chediak-Higashi Syndrome
Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Leukopenia, Splenomegaly, Impa... OMIM:214500
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Portal fibrosis, Portal inflammation... OMIM:602347
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis ORPHA:713
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor, Pancreatic islet-cell hyperplasia ORPHA:276608
Wilson Disease
Cirrhosis, Jaundice, Anemia, Hepatomegaly, Acute hepatitis, Hepatitis, Thrombocytopenia, Splenome... ORPHA:905
Matthew-Wood Syndrome
Annular pancreas, Microphthalmia, Aplasia/Hypoplasia of the pancreas, Anophthalmia, Abnormal sple... ORPHA:2470
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia, Thrombo... ORPHA:158048
Fanconi Anemia, Complementation Group U
Chromosome breakage, Patent ductus arteriosus OMIM:617247
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:619183
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Splenomegaly, Macrocytic anemia OMIM:619046
Immunodeficiency 10
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte count, Splenomega... OMIM:612783
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Focal pancreatic islet hyperplasia, Pallor, Hepatomegaly, Diffuse pancreatic islet hyperplasia ORPHA:276575
Relapsing Fever