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Gene: Tspan33 MGI:1919012

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

tetraspanin 33

Synonyms:

Pen, 1300010A20Rik, Penumbra

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 Tspan33 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 Tspan33 (0 diseases)
Human diseases predicted to be associated with Tspan33 (955 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Tspan33 by phenotypic similarity.

Disease	Matching phenotypes	Source
Diamond-Blackfan Anemia 19	Erythroid hypoplasia, Steroid-responsive anemia, Anemia	OMIM:618312
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly, Anemia	ORPHA:294
Diamond-Blackfan Anemia-Like	Steroid-responsive anemia, Pure red cell aplasia	OMIM:617911
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Transient Erythroblastopenia Of Childhood	Transient erythroblastopenia, Anemia	OMIM:227050
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Lymphoproliferative disorder, Follicular hyperplasi...	OMIM:614470
Cyanosis, Transient Neonatal	Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia	OMIM:613977
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Anemia, Sideroblastic, 4	Abnormal erythrocyte morphology, Sideroblastic anemia, Refractory anemia with ringed sideroblasts	OMIM:182170
Diamond-Blackfan Anemia 17	Anemia	OMIM:617409
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Refractory anemia with ringed siderob...	OMIM:133180
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Myelodysplasia, Lymphoma, Leukopenia, Monocytosis, Bon...	OMIM:616871
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Glutamate-Cysteine Ligase Deficiency	Hepatosplenomegaly, Hemolytic anemia, Jaundice, Reticulocytosis	ORPHA:33574
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
Immune Thrombocytopenia	Thrombocytopenia	OMIM:188030
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy	OMIM:312500
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia	ORPHA:46532
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Cephalin Lipidosis	Abnormality of the spleen	OMIM:212800
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia	OMIM:618310
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia	Anemia	ORPHA:2802
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Abnormality of thrombocytes, Splenomegaly, Leukocytos...	OMIM:612840
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Tn Polyagglutination Syndrome	Abnormal erythrocyte morphology	OMIM:300622
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple...	ORPHA:232
Tuftsin Deficiency	Abnormality of the spleen	OMIM:191150
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Immunodeficiency 16	Splenomegaly, Pancytopenia, Kaposi's sarcoma, Coombs-positive hemolytic anemia	OMIM:615593
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia	OMIM:611490
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia, Myelodysplasia	OMIM:162830
Hemoglobin E-Beta-Thalassemia Syndrome	Abnormal hemoglobin, Anemia	ORPHA:231249
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Alpha-Thalassemia-Myelodysplastic Syndrome	Myelodysplasia, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thr...	ORPHA:231401
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Sea-Blue Histiocyte Disease	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating...	OMIM:269600
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Single lineage myelodysplasia, Anemia of inadequate product...	ORPHA:98826
Harderoporphyria	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice	OMIM:618892
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Refractory anemia with ringed sideroblasts, Redu...	OMIM:619523
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Chromosome 5Q Deletion Syndrome	Erythroid hypoplasia, Myelodysplasia, Anemia of inadequate production, Refractory macrocytic anemia	OMIM:153550
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S...	OMIM:224120
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Hematological neop...	ORPHA:824
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Bone Marrow Failure Syndrome 2	Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:615715
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Anemia, Increased mean corpuscular volume, ...	OMIM:619041
Fanconi Anemia, Complementation Group G	Myelodysplasia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:614082
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Diamond-Blackfan Anemia 13	Normocytic anemia	OMIM:615909
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne...	OMIM:300908
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Myelodysplasia, Thrombocytopenia	OMIM:252270
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Gray Platelet Syndrome	Splenomegaly, Myelodysplasia, Abnormality of thrombocytes, Thrombocytopenia	ORPHA:721
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ...	ORPHA:75564
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr...	OMIM:603552
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia	OMIM:205950
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Leukocytosis, Anemia	OMIM:619398
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Trimethylaminuria	Splenomegaly, Anemia, Neutropenia	OMIM:602079
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Lymphoproliferative disorder	OMIM:242880
Acute Myelomonocytic Leukemia	Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia	ORPHA:517
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly	OMIM:608898
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Amegakaryocytic Thrombocytopenia, Congenital, 1	Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia	OMIM:604498
Niemann-Pick Disease, Type B	Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia	OMIM:607616
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Anemia	OMIM:616176
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Preeclampsia/Eclampsia 1	Elevated hepatic transaminase, Thrombocytopenia	OMIM:189800
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Myelodysplasia, Microcytic anemia, Hypersplenism, Splenome...	ORPHA:846
Acute Erythroid Leukemia	Pancytopenia, Erythroid hypoplasia, Leukopenia, Refractory anemia with ringed sideroblasts, Bone ...	ORPHA:318
Phosphoglycerate Kinase 1 Deficiency	Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis	OMIM:300653
Congenital Atransferrinemia	Abnormality of the pancreas, Anemia	ORPHA:1195
Bleeding Disorder, Platelet-Type, 16	Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat...	OMIM:187800
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Abnormality of the liver, Thrombocytopenia	ORPHA:1980
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:610539
Thrombocytopenia 7	Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i...	OMIM:619130
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hepatosplenomegaly, Hemolytic anemia, Decreased mean corpuscular volume, Reticulocytosis	OMIM:611590
Fetal Parvovirus Syndrome	Thrombocytopenia, Ascites, Anemia	ORPHA:295
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia	OMIM:166990
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Spastic Paraplegia And Evans Syndrome	Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia	OMIM:601608
Thanatophoric Dysplasia, Glasgow Variant	Anemia, Hepatosplenomegaly	OMIM:273680
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:54057
Heinz Body Anemias	Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia	OMIM:140700
Nephronophthisis	Anemia	ORPHA:655
Isobutyryl-Coa Dehydrogenase Deficiency	Anemia	OMIM:611283
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Aicardi-Goutieres Syndrome 6	Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly	OMIM:615010
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno...	ORPHA:822
Elliptocytosis 2	Hemolytic anemia, Elliptocytosis, Reticulocytosis	OMIM:130600
Roch-Leri Mesosomatous Lipomatosis	Multiple lipomas, Thrombocytopenia	ORPHA:529
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia	OMIM:613101
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:615085
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Immunodeficiency 15B	Monocytosis, Reduced natural killer cell count	OMIM:615592
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Squamous cell carcinoma, Prostate cancer, Neutropenia, B-cell lymphoma, Myelodysplasia, T-cell ly...	ORPHA:158057
Atypical Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:2134
Familial Pseudohyperkalemia	Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume	ORPHA:90044
Sitosterolemia 1	Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly...	OMIM:210250
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs...	OMIM:226990
Immunodeficiency 21	Aplastic anemia, Myelodysplasia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropen...	OMIM:614172
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:616435
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Lymphadenopathy...	OMIM:619644
Aicardi-Goutieres Syndrome 3	Elevated hepatic transaminase, Thrombocytopenia, Hepatosplenomegaly	OMIM:610329
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Beta-Thalassemia Intermedia	Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ...	ORPHA:231222
Ataxia-Pancytopenia Syndrome	Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto...	OMIM:159550
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Hepa...	ORPHA:71275
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Hemangioma-Thrombocytopenia Syndrome	Hemangioma, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:141000
Malaria	Anemia, Thrombocytopenia	ORPHA:673
Non-Involuting Congenital Hemangioma	Perineal hemangioma, Midfrontal capillary hemangioma, Hepatic hemangioma, Tufted angioma, Viscera...	ORPHA:141179
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Increased mean corpuscular ...	OMIM:617021
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:259710
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphoma, Lymphadenopathy, Ascites, Anemia	ORPHA:100025
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome...	OMIM:616860
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia	OMIM:619302
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:611783
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia	OMIM:612527
Glycogen Storage Disease Vii	Hemolytic anemia, Reticulocytosis, Jaundice, Reduced erythrocyte 2,3-diphosphoglycerate concentra...	OMIM:232800
Hyperlysinemia, Type I	Anemia	OMIM:238700
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Anemia	ORPHA:1802
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis	ORPHA:713
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia	OMIM:124900
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Glutathione Peroxidase Deficiency	Heinz bodies, Compensated hemolytic anemia	OMIM:614164
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Diamond-Blackfan Anemia 9	Anemia	OMIM:613308
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia	ORPHA:2688
Diamond-Blackfan Anemia 16	Anemia	OMIM:617408
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, B-cell lym...	OMIM:613011
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly, Lymphocytosis	OMIM:606445
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia	ORPHA:100024
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i...	OMIM:619220
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia, B-cell lymphoma	OMIM:619437
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, Hepatic hema...	ORPHA:2330
Rapidly Involuting Congenital Hemangioma	Perineal hemangioma, Midfrontal capillary hemangioma, Hepatic hemangioma, Tufted angioma, Viscera...	ORPHA:141184
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
X-Linked Sideroblastic Anemia	Elevated hepatic transaminase, Splenomegaly, Anemia	ORPHA:75563
Pseudo-Von Willebrand Disease	Intermittent thrombocytopenia	OMIM:177820
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ...	ORPHA:848
Mantle Cell Lymphoma	Splenomegaly, B-cell lymphoma, Lymphadenopathy	ORPHA:52416
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Congenital Toxoplasmosis	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadeno...	ORPHA:858
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Hemangiomatosis, Visceral angiomatosis, Anemia, Ascites, Thrombocytopenia	ORPHA:2123
Immunodeficiency 46	Neutropenia, Anemia, Intermittent thrombocytopenia	OMIM:616740
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Myelodysplasia, Abnormal erythrocyte mor...	ORPHA:86841
Transaldolase Deficiency	Thrombocytopenia, Cirrhosis, Anemia, Hepatosplenomegaly	ORPHA:101028
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno...	ORPHA:507
Protoporphyria, Erythropoietic, 2	Iron deficiency anemia	OMIM:618015
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Myelodysplasia, Acute lymphoblastic leukem...	ORPHA:486
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Fanconi Anemia, Complementation Group V	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:617243
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb...	OMIM:173590
Amed Syndrome, Digenic	Acute myeloid leukemia, Myelodysplasia, Anemia, Leukopenia, Bone marrow hypocellularity, Thromboc...	OMIM:619151
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Elevated hepatic iron concentration, Erythroid hyperplasia, Hy...	OMIM:206100
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Stormorken-Sjaastad-Langslet Syndrome	Asplenia, Abnormality of thrombocytes, Anemia	ORPHA:3204
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i...	OMIM:615234
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia	ORPHA:158029
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia	OMIM:613313
Diamond-Blackfan Anemia 12	Macrocytic anemia, Reticulocytopenia, Normochromic anemia	OMIM:615550
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia	OMIM:616738
Rhabdoid Tumor	Renal neoplasm, Lymphadenopathy, Neoplasm of the central nervous system, Neoplasm of the liver, A...	ORPHA:69077
Forsythe-Wakeling Syndrome	Thrombocytopenia	OMIM:613606
Bone Marrow Failure Syndrome 4	Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:618116
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Folate Malabsorption, Hereditary	Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:229050
Phosphoglycerate Dehydrogenase Deficiency	Thrombocytopenia, Megaloblastic anemia	OMIM:601815
Glutathione Synthetase Deficiency	Hemolytic anemia	ORPHA:32
Nephrotic Syndrome, Type 7	Hemolytic anemia, Thrombocytopenia	OMIM:615008
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Jaundice, Schistocytosis, Microangiopathic hemolytic anemia, Prolonged neonatal ...	OMIM:274150
Diamond-Blackfan Anemia 5	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Leukopenia	OMIM:612528
Wt Limb-Blood Syndrome	Thrombocytopenia, Pancytopenia, Hypoplastic anemia, Leukemia	OMIM:194350
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly	OMIM:259730
Aicardi-Goutieres Syndrome 4	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thro...	OMIM:610333
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom...	OMIM:619375
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Hydrops Fetalis, Nonimmune	Anemia	OMIM:236750
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Splenomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia	ORPHA:79312
Tufted Angioma	Thrombocytopenia, Neoplasm of the skin, Hemangioma of the lip, Anemia, Facial hemangioma	ORPHA:1063
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Babesiosis	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Leukopenia, Hepatic failure, Thrombocytop...	ORPHA:108
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:598500
Bleeding Disorder, Platelet-Type, 20	Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Thrombocytopenia	OMIM:613554
Adenosine Triphosphatase Deficiency, Anemia Due To	Nonspherocytic hemolytic anemia	OMIM:102800
Hemolytic Anemia With Thermal Sensitivity Of Red Cells	Congenital hemolytic anemia	OMIM:235370
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain	Compensated hemolytic anemia	OMIM:142309
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane	Nonspherocytic hemolytic anemia	OMIM:206300
Beta-Thalassemia Major	Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ...	ORPHA:231214
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Lymphoproliferative disorder, B-cell lymphoma, Auto...	OMIM:300853
Atransferrinemia	Abnormality of the liver, Hypochromic anemia	OMIM:209300
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Leukocyte inclusion bodies, Giant platelets, Macrothrombocytopenia, Neutrophil inclusion bodies, ...	OMIM:155100
Adenylate Kinase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:612631
6-Phosphogluconolactonase Deficiency	Hemolytic anemia	OMIM:172150
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Hypereosinophilic Syndrome, Idiopathic	Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder	OMIM:607685
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Immunodeficiency 104	Splenomegaly, Hepatomegaly, T lymphocytopenia, Lymphadenopathy	OMIM:608971
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:230450
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Leukocytosis, Lymphoma, Lymphadenopathy, Anemia	ORPHA:37748
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:231095
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ...	OMIM:209950
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi...	OMIM:619463
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de...	OMIM:616278
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Gaucher Disease, Type Iii	Splenomegaly, Hepatomegaly, Pancytopenia, Thrombocytopenia	OMIM:231000
Oslam Syndrome	Neoplasm, Anemia, Osteosarcoma	OMIM:165660
Immunodeficiency 76	B-cell lymphoma, Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I...	OMIM:150550
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ...	OMIM:619802
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Abnormality of the tonsils, Abnormality of neutrophils, Th...	ORPHA:229717
Platelet Disorder, Undefined	Neuroblastoma, Impaired platelet aggregation, Thrombocytopenia, Hematological neoplasm	OMIM:173420
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Hepatomegaly, Anemia	OMIM:618107
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphoma, Lymphad...	OMIM:308240
Alpha-Thalassemia Myelodysplasia Syndrome	Myelodysplasia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Splenomegaly, Hemophagocytosis, Subcutaneous panniculitis-like T-cell lymphoma, Anemia	OMIM:618398
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly	OMIM:619175
Diamond-Blackfan Anemia 20	Erythroid hypoplasia, Anemia	OMIM:618313
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone...	OMIM:301078
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po...	ORPHA:64743
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Sarcoma	ORPHA:66661
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis	OMIM:300367
Idiopathic Aplastic Anemia	Pancytopenia, Thrombocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia	ORPHA:88
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Acute monocytic leukemia, Myelodysplasia, Lymphoma, Neuroblastoma, Impair...	OMIM:601399
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia	ORPHA:289916
Autoimmune Lymphoproliferative Syndrome	Non-Hodgkin lymphoma, Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated proporti...	ORPHA:3261
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytop...	OMIM:612541
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Lymphopenia, Thrombocytopenia	OMIM:616744
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:235400
Ollier Disease	Chondrosarcoma, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, Lymphangioma, Hemangi...	ORPHA:296
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Megaloblastic anemia	OMIM:243320
Dohle Bodies And Leukemia	Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia	OMIM:223350
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, He...	ORPHA:210136
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomegaly, Microvesicular hepat...	OMIM:618278
Immunodeficiency 10	Kaposi's sarcoma, Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy	OMIM:612783
Aggressive Systemic Mastocytosis	Pancytopenia, Portal hypertension, Hematological neoplasm, Hypersplenism, Thrombocytopenia, Leuko...	ORPHA:98850
Anemia, Sideroblastic, 1	Sideroblastic anemia, Macrocytic anemia, Anemia of inadequate production, Hypochromic microcytic ...	OMIM:300751
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:603909
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Letterer-Siwe Disease	Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Thrombocytopenia	OMIM:246400
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Macrocytic anemia, Anemia, Leukopenia, Pancreatitis, Thrombocytopenia	ORPHA:27
Macrophage Activation Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Thrombocytopenia, Sp...	ORPHA:158061
Hb Bart'S Hydrops Fetalis	Splenomegaly, Hepatomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:601859
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia	OMIM:314000
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly	ORPHA:139406
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Elevated hepatic transaminase, Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decrea...	ORPHA:300298
Transcobalamin Deficiency	Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia	ORPHA:859
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Myelodysplasia, Portal hypertension, Thrombocytopenia, Squamous cell carcinoma of the skin, Lymph...	OMIM:620365
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Splenomegaly, Anemia, Reduced natural killer cell count, Thrombocytopenia	OMIM:616050
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenom...	OMIM:259720
Cholesteryl Ester Storage Disease	Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio...	OMIM:278000
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Single lineage myelodysplasia, Anemia of inadequate production, Leukocyto...	ORPHA:86839
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio...	OMIM:153670
Bone Marrow Failure Syndrome 6	Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean corpuscular vo...	OMIM:618849
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ...	ORPHA:79303
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Anemia	OMIM:610090
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Hepatomegaly, Anemia	OMIM:620296
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Thr...	ORPHA:398124
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke...	ORPHA:3226
Thrombocythemia 2	Thrombocytosis	OMIM:601977
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Multiple myeloma, Thrombocytopenia	OMIM:230800
Majeed Syndrome	Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:609628
Immunodeficiency 11A	Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells	OMIM:615206
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:231900
Formiminoglutamic Aciduria	Anemia, Megaloblastic anemia	ORPHA:51208
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Hepatic failure, Ascites, Anemia	ORPHA:75233
Erythrocytosis, Familial, 2	Increased red blood cell mass, Hemangioma, Increased hematocrit, Increased hemoglobin	OMIM:263400
Woronets Trait	Red blood cell keratocytosis	OMIM:194320
3-Methylglutaconic Aciduria Type 4	Decreased liver function, Thrombocytopenia	ORPHA:67048
Tularemia	Brain abscess, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Mediastinal lymphadenopa...	ORPHA:3392
Bernard-Soulier Syndrome	Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopenia, Thrombo...	OMIM:231200
Slc35A1-Cdg	Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia	ORPHA:238459
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Hodgkin lymphoma, Absent circulating B c...	OMIM:620282
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, B-cell lymphoma, Splenomegaly, Lymphoma, Breast carcinoma, Lymphadenopathy	ORPHA:86893
Congenital Rubella Syndrome	Hepatomegaly, Splenomegaly, Jaundice, Anemia, Thrombocytopenia	ORPHA:290
Cold Agglutinin Disease	Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly	ORPHA:56425
Thyrocerebrorenal Syndrome	Thrombocytopenia	ORPHA:3327
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Anemia	ORPHA:28
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma	ORPHA:882
Systemic Lupus Erythematosus 17	Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia	OMIM:301080
Protoporphyria, Erythropoietic, X-Linked	Elevated hepatic transaminase, Iron deficiency anemia, Cholelithiasis	OMIM:300752
Congenital Disorder Of Glycosylation, Type Iik	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a...	OMIM:614727
Immunodeficiency 48	Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly	OMIM:269840
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pan...	ORPHA:54251
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt...	OMIM:615513
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Medi...	ORPHA:83469
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Anemia	ORPHA:371
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Th...	OMIM:613839
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Fava bean-induced hemolytic anemia	OMIM:618660
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Thrombocytopenia, Splenomegal...	ORPHA:905
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
Ceroid storage disease	Abnormality of the spleen, Hepatic failure	OMIM:214200
Tempi Syndrome	Hemangioma, Ascites, Increased hematocrit, Polycythemia	ORPHA:284227
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Splenomegaly, Ascites, Anemia	ORPHA:1046
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Systemic Lupus Erythematosus	Hemolytic anemia, Thrombocytopenia, Leukopenia	OMIM:152700
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ...	OMIM:618986
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Anemia	OMIM:614514
Specific Granule Deficiency 2	Absent neutrophil specific granules, Myelodysplasia, Anemia, Neutropenia, Thrombocytopenia	OMIM:617475
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ...	OMIM:139090
Intermediate Osteopetrosis	Thrombocytopenia, Anemia, Hepatosplenomegaly	ORPHA:210110
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff...	OMIM:612714
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Absence of lymph node germinal center, Myelodysplasia, Autoimmune th...	OMIM:608184
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Hepatomegaly, Fetal ascites	OMIM:619462
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Hepatitis, Lymphadenopathy, Coombs-p...	OMIM:304790
Thrombocytopenia, Paris-Trousseau Type	Thrombocytopenia	OMIM:188025
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia	ORPHA:85212
Pseudo-Torch Syndrome 3	Cardiomegaly, Lymphadenitis, Leukocytosis, Congenital thrombocytopenia, Anemia	OMIM:618886
Hermansky-Pudlak Syndrome 9	Leukopenia, Abnormal platelet aggregation, Thrombocytopenia	OMIM:614171
Essential Thrombocythemia	Abnormality of thrombocytes, Myelodysplasia, Splenomegaly, Abnormal platelet morphology, Acute le...	ORPHA:3318
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio	OMIM:618495
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Microcytic anemia, Hepatosplenomegaly, Thrombocytosis, Sterile abscess	OMIM:604416
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Lymphoproliferative disorder, Splenomegaly, Lymphoma...	OMIM:615122
Blue Rubber Bleb Nevus	Iron deficiency anemia, Abnormality of the liver, Hemangioma, Thrombocytopenia, Cerebellar medull...	OMIM:112200
Isovaleric Acidemia	Leukopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:243500
Bleeding Disorder, Platelet-Type, 21	Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre...	OMIM:617443
Reticular Dysgenesis	Anemia, Leukopenia, Aplasia/Hypoplasia of the thymus, Abnormality of neutrophils	ORPHA:33355
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Abnormality of thrombocytes, Splenomegaly, Jaundice, Cholestasis, Neoplasm	ORPHA:172
Orthostatic Hypotension 2	Anemia	OMIM:618182
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Neoplasm, Thrombocytopenia	ORPHA:169090
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic anemia, Macrocytic dyserythropoietic anemia	OMIM:619789
Infantile Liver Failure Syndrome 1	Acute hepatic failure, Hepatomegaly, Macrocytic anemia, Elevated hepatic transaminase, Hepatic st...	OMIM:615438
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Myelodysplas...	ORPHA:98849
Glutamate Formiminotransferase Deficiency	Hypersegmentation of neutrophil nuclei, Megaloblastic anemia	OMIM:229100
Thiamine-Responsive Megaloblastic Anemia Syndrome	Thrombocytopenia, Megaloblastic anemia	ORPHA:49827
Combined Saposin Deficiency	Splenomegaly, Hepatomegaly	OMIM:611721
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Pancytopenia, Aplastic anemia, Myelodysplasia, Mediastinal lymphadenopathy, Bone marrow hypocellu...	OMIM:614742
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi...	OMIM:620010
Preeclampsia	Elevated hepatic transaminase, Thrombocytopenia, Abnormality of the hepatic vasculature	ORPHA:275555
Thyrocerebroretinal Syndrome	Thrombocytopenia	OMIM:274240
Good Syndrome	Abnormal leukocyte morphology, Mediastinal lymphadenopathy, Thrombocytopenia, Thymoma, Aplasia/Hy...	ORPHA:169105
Atelis Syndrome 1	Leukopenia, Thrombocytopenia, Anemia	OMIM:620184
Noonan Syndrome 12	Glabellar hemangioma, Lymphopenia, Thrombocytopenia	OMIM:618624
Felty Syndrome	Hepatomegaly, Thrombocytopenia, Splenomegaly, Lymphoma, Lymphadenopathy, Bone marrow hypocellular...	ORPHA:47612
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly	ORPHA:417
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Thrombocytopenia, Micronodular cirrhosis, Splenomegaly, Hepatosplenom...	OMIM:606003
Cinca Syndrome	Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia	OMIM:607115
Intermediate Generalized Junctional Epidermolysis Bullosa	Anemia	ORPHA:79402
Lesch-Nyhan Syndrome	Anemia	ORPHA:510
Hemochromatosis, Type 3	Elevated hepatic transaminase, Cirrhosis, Neutropenia, Lymphopenia, Anemia	OMIM:604250
Galactose Epimerase Deficiency	Splenomegaly, Hepatomegaly, Jaundice	ORPHA:79238
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Hemophagocytosis	OMIM:300635
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu...	ORPHA:381
Pernicious Anemia	Megaloblastic anemia	OMIM:170900
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim...	ORPHA:331206
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis	OMIM:206200
Fibrodysplasia Ossificans Progressiva	Anemia	ORPHA:337
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar...	OMIM:603903
Stormorken Syndrome	Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia	OMIM:185070
Myh9-Related Disease	Elevated hepatic transaminase, Increased mean platelet volume, Giant platelets, Neutrophil inclus...	ORPHA:182050
Mitochondrial Myopathy And Sideroblastic Anemia	Anemia	ORPHA:2598
Stuve-Wiedemann Syndrome 2	Thrombocytopenia	OMIM:619751
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612926
Indolent Systemic Mastocytosis	Hepatomegaly, Hematological neoplasm, Splenomegaly, Lymphadenopathy, Increased proportion of CD25...	ORPHA:98848
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Reticulocytosis, Leukocytosis, Schistocytosis, Peritonitis, Microangiopathic hemolytic anemia, Pa...	ORPHA:90038
Immunodeficiency 102	Hepatomegaly, Autoimmune thrombocytopenia, Nodular regenerative hyperplasia of liver, Neutropenia...	OMIM:301082
Senior-Loken Syndrome 4	Anemia	OMIM:606996
Dyskeratosis Congenita, Autosomal Recessive 2	Thrombocytopenia, Pancytopenia, Bone marrow hypocellularity, Cirrhosis	OMIM:613987
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:616576
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset d...	ORPHA:158048
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Thrombocytopenia	OMIM:249270
Potocki-Shaffer Syndrome	Nephroblastoma, Anemia, Exostoses	ORPHA:52022
Sandhoff Disease	Splenomegaly, Hepatomegaly	ORPHA:796
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Lymphadenopathy, Anemia, Lymphopenia, ...	OMIM:617591
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612924
Prolidase Deficiency	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Anemia...	OMIM:170100
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Hepatomegaly, Portal hypertension, Elevated hepatic transaminase	OMIM:617068
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Galactosemia Iii	Splenomegaly, Hepatomegaly, Jaundice	OMIM:230350
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Abnormality of the tonsils, Abnormality of the lymphatic s...	ORPHA:47
Bleeding Disorder, Platelet-Type, 17	Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll...	OMIM:187900
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc...	OMIM:619846
Imerslund-Grasbeck Syndrome 2	Megaloblastic anemia	OMIM:618882
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Moyamoya Disease 6 With Or Without Achalasia	Thrombocytopenia	OMIM:615750
Classic Mycosis Fungoides	Hepatomegaly, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm of the...	ORPHA:2584
Junctional Epidermolysis Bullosa Inversa	Basal cell carcinoma, Cutaneous melanoma, Anemia, Squamous cell carcinoma	ORPHA:79405
Hemochromatosis, Type 4	Hepatomegaly, Cirrhosis, Hepatic steatosis, Anemia	OMIM:606069
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Cog4-Cdg	Elevated hepatic transaminase, Fatal liver failure in infancy, Hepatosplenomegaly, Cirrhosis, Thr...	ORPHA:263501
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Elliptocytosis, Anemia of inadequate production	OMIM:166910
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Hypersplenism, Thrombocytopenia, Splenomegaly, Leukopenia, Cirrhosis,...	ORPHA:77259
Aicardi-Goutieres Syndrome 5	Thrombocytopenia	OMIM:612952
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hype...	ORPHA:79124
Relapsing Fever	Elevated hepatic transaminase, Neutrophilia, Leukocytosis, Jaundice, Anemia, Leukopenia, Thromboc...	ORPHA:91547
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612925
Hemolytic Anemia, Congenital, X-Linked	Hemolytic anemia, Jaundice	OMIM:301015
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites	OMIM:271500
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem...	ORPHA:514
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Thrombocy...	OMIM:617780
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Thrombocytopenia, Bone marrow hypocellularity, Anemia, Neutropenia	OMIM:614520
Transcobalamin Ii Deficiency	Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia	OMIM:275350
Coach Syndrome 3	Portal fibrosis, Anemia	OMIM:619113
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Anemia	ORPHA:2325
Niemann-Pick Disease, Type A	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cel...	OMIM:257200
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C...	ORPHA:79301
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia	ORPHA:79477
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Cho...	ORPHA:540
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Anemia, Neoplasm, Bone marrow hypocellularity, Thrombocytopenia	ORPHA:3322
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Squamous cell carcinoma, Leukopeni...	ORPHA:79277
Braddock-Carey Syndrome 2	Thrombocytopenia	OMIM:619981
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Thrombocytopeni...	OMIM:214500
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, As...	OMIM:614034
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Lymphadenitis, Splenomegaly, Rec...	OMIM:618935
Cyclic Neutropenia	Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Peritonitis, Recurrent tonsilliti...	ORPHA:2686
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphoma, Lymphadenopathy	ORPHA:545
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Lymphadenopathy	OMIM:611762
Omenn Syndrome	Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphoma, Lymphadenopathy, Abnormal lymph...	ORPHA:39041
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi...	OMIM:619868
Boutonneuse Fever	Elevated hepatic transaminase, Cervical lymphadenopathy, Lymphadenopathy, Leukopenia, Thrombocyto...	ORPHA:83313
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Leukopenia, Hemophagocytosis, Thro...	OMIM:267700
Elliptocytosis 3	Pyropoikilocytosis, Intermittent jaundice, Decreased mean corpuscular volume, Elliptocytosis, Chr...	OMIM:617948
Late-Onset Junctional Epidermolysis Bullosa	Basal cell carcinoma, Cutaneous melanoma, Anemia, Squamous cell carcinoma	ORPHA:79406
Congenital Dyserythropoietic Anemia Type Iii	Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Increased mean corp...	ORPHA:98870
Fgfr2-Related Bent Bone Dysplasia	Extramedullary hematopoiesis, Hepatosplenomegaly	ORPHA:313855
Hemophagocytic Lymphohistiocytosis, Familial, 2	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Thrombocytopenia, Splenomegaly, Jaundi...	OMIM:603553
Immunodeficiency With Hyper-Igm, Type 1	Hepatomegaly, Hemolytic anemia, Absence of lymph node germinal center, Splenomegaly, Enlarged ton...	OMIM:308230
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Anemia	ORPHA:2668
Quebec Platelet Disorder	Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Thrombocytopenia	OMIM:259700
Mitochondrial Complex I Deficiency, Nuclear Type 39	Anemia, Cardiomegaly	OMIM:620135
Pearson Syndrome	Elevated hepatic transaminase, Hepatomegaly, Reticulocytosis, Pancytopenia, Pancreatic fibrosis, ...	ORPHA:699
Stt3B-Cdg	Thrombocytopenia	ORPHA:370924
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Agammaglobulinemia 9, Autosomal Recessive	Thrombocytopenia, Absent circulating B cells	OMIM:619693
Focal Segmental Glomerulosclerosis 1	Ascites, Anemia	OMIM:603278
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia	ORPHA:90045
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia	OMIM:603585
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Lymphadenopathy, B lymphocytopenia, Decreased proportion of memory B cel...	OMIM:618048
Immune Thrombocytopenia	Thrombocytopenia	ORPHA:3002
Methylmalonic Aciduria, Cblb Type	Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Thrombocytopenia	OMIM:251110
Congenital Enterovirus Infection	Abnormal macrophage morphology, Fetal ascites, Thrombocytopenia, Leukocytosis, Hepatitis, Cholest...	ORPHA:292
Propionic Acidemia	Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia	OMIM:606054
Congenital Disorder Of Glycosylation, Type Ix	Thrombocytopenia	OMIM:615597
Hydatidiform Mole	Anemia	ORPHA:99927
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:616433
Castleman Disease	Generalized lymphadenopathy, Abdominal mass, Follicular hyperplasia, Mediastinal lymphadenopathy,...	ORPHA:160
Acute Promyelocytic Leukemia	Pancytopenia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Leukopenia, Neutropenia, Anemia	ORPHA:520
Kaposiform Lymphangiomatosis	Pancreatic cysts, Splenomegaly, Abnormality of the lymphatic system, Hepatosplenomegaly, Anemia, ...	ORPHA:464329
Familial Benign Copper Deficiency	Anemia	ORPHA:1551
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Myelodysplasia, Thrombocytopenia, Hepatic necrosis, Leukopenia, Increased mean c...	OMIM:127550
Pelger-Huet Anomaly	Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ...	OMIM:169400
Drug-Induced Lupus Erythematosus	Thrombocytopenia, Anemia	ORPHA:231111
Self-Improving Dystrophic Epidermolysis Bullosa	Basal cell carcinoma, Cutaneous melanoma, Anemia, Squamous cell carcinoma	ORPHA:79411
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Cholestasis, Anemia, Decreased liver function, Ascites, Thrombocytopenia	OMIM:608104
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosp...	OMIM:616828
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Anemia	OMIM:613092
Copper Deficiency, Familial Benign	Anemia	OMIM:121270
Bazex Syndrome	Neoplasm, Lung adenocarcinoma, Anemia, Liposarcoma	ORPHA:166113
Spherocytosis, Type 3	Hemolytic anemia, Spherocytosis	OMIM:270970
Pyropoikilocytosis, Hereditary	Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis	OMIM:266140
Autosomal Erythropoietic Protoporphyria	Cholelithiasis, Decreased liver function, Cirrhosis, Microcytic anemia	ORPHA:79278
Mevalonic Aciduria	Elevated hepatic transaminase, Normocytic hypoplastic anemia, Fluctuating hepatomegaly, Fluctuati...	OMIM:610377
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Elevated hepatic transaminase, Myelodysplasia...	OMIM:260400
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Abnormal erythrocyte enzyme level, Thrombocytope...	ORPHA:447
Hemochromatosis, Type 5	Anemia, Elevated hepatic iron concentration	OMIM:615517
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy...	ORPHA:86843
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholesta...	OMIM:214900
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis	OMIM:616719
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Immunodeficiency, Common Variable, 1	Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo...	OMIM:607594
Coproporphyria, Hereditary	Splenomegaly, Hepatomegaly, Jaundice	OMIM:121300
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Hepatocellular carcinoma	OMIM:613490
Vexas Syndrome	Macrocytic anemia, Myelodysplasia, Thrombocytopenia	OMIM:301054
Combined Oxidative Phosphorylation Deficiency 41	Anemia, Cardiomegaly	OMIM:618838
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Splenomegaly, Macrocytic anemia	OMIM:619046
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Leukopenia, Thrombocytopenia, Pancytopenia, Anemia	OMIM:613845
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Sideroblastic anemia, Hypochromic microcytic anemia	OMIM:301310
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90037
Tangier Disease	Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Thrombocytopenia, Hepatosplenom...	ORPHA:31150
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Lymphoproliferative disorder, Splenomegaly, Jaundice, Chronic lympha...	ORPHA:90033
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Anemia, Neutropenia	OMIM:617056
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Splenomegaly, Leukopenia, Lymphopenia, Hepatomegaly	OMIM:620210
Activated Pi3K-Delta Syndrome	Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphoma, Lymphadenopathy, B lymphocytopenia	ORPHA:397596
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy	OMIM:619183
Immunodeficiency 54	Hepatomegaly, Lymphoproliferative disorder, Splenomegaly, Lymphadenopathy, Reduced natural killer...	OMIM:609981
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Hepatomegaly	ORPHA:2204
Rh-Null, Regulator Type	Hemolytic anemia, Jaundice, Stomatocytosis	OMIM:268150
Diffuse Alveolar Hemorrhage	Thrombocytopenia, Leukocytosis, Anemia	ORPHA:90060
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop...	OMIM:616100
Abetalipoproteinemia	Elevated hepatic transaminase, Hepatomegaly, Reticulocytosis, Cardiomegaly, Acanthocytosis, Hepat...	ORPHA:14
Gaucher Disease Type 2	Splenomegaly, Hepatomegaly	ORPHA:77260
Cinca Syndrome	Hepatomegaly, Abnormality of thrombocytes, Abnormality of neutrophils, Splenomegaly, Leukocytosis...	ORPHA:1451
Combined Oxidative Phosphorylation Deficiency 14	Copper accumulation in liver, Anemia, Elevated hepatic iron concentration, Increased hepatic glyc...	OMIM:614946
Hypothyroidism, Congenital, Nongoitrous, 6	Anemia	OMIM:614450
Megaloblastic Anemia, Folate-Responsive	Episodic hemolytic anemia, Schistocytosis, Folate-responsive megaloblastic anemia, Hypersegmentat...	OMIM:601775
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Amyloidosis, Familial Visceral	Splenomegaly, Hepatomegaly, Cholestasis	OMIM:105200
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Lymp...	OMIM:614700
Protoporphyria, Erythropoietic, 1	Hemolytic anemia, Hepatic failure, Cholelithiasis	OMIM:177000
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Elevated circul...	OMIM:300972
Proteus Syndrome	Splenomegaly, Multiple lipomas, Lipoma, Lymphangioma, Hemangioma	OMIM:176920
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransf...	OMIM:611881
Congenital Disorder Of Glycosylation, Type Ik	Splenomegaly, Hepatomegaly	OMIM:608540
Immunodeficiency 22	Abscess, Anemia, Decreased proportion of CD4-positive helper T cells, Ascites, Thrombocytopenia	OMIM:615758
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	OMIM:251880
Common Variable Immunodeficiency	Elevated hepatic transaminase, Hemolytic anemia, Autoimmune thrombocytopenia, Gastrointestinal st...	ORPHA:1572
Cholesteryl Ester Storage Disease	Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Hepatic failure	ORPHA:75234
3-Methylglutaconic Aciduria, Type Viia	Anisopoikilocytosis, Anemia, Neutropenia	OMIM:619835
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Normochromic anemia, Thrombocytopenia, Neutropenia	OMIM:614857
Gaucher Disease, Type Ii	Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:230900
Glycogen Storage Disease Ixb	Splenomegaly, Hepatomegaly, Increased hepatic glycogen content	OMIM:261750
Cronkhite-Canada Syndrome	Hepatomegaly, Splenomegaly, Hamartomatous polyposis, Neoplasm, Anemia	ORPHA:2930
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ly...	OMIM:613179
Acquired Purpura Fulminans	Neoplasm, Thrombocytopenia, Hepatic failure	ORPHA:49566
Wolfram Syndrome 1	Sideroblastic anemia, Thrombocytopenia, Megaloblastic anemia	OMIM:222300
Immunodeficiency, Common Variable, 2	Hepatomegaly, Follicular hyperplasia, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm	OMIM:240500
Thrombocytopenia 6	Thrombocytopenia	OMIM:616937
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Myelodysplasia, Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow h...	ORPHA:508542
Dengue Fever	Leukopenia, Ascites, Thrombocytopenia, Hepatomegaly	ORPHA:99828
Ovalocytosis, Southeast Asian	Hemolytic anemia, Elliptocytosis	OMIM:166900
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:42642
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Sézary Syndrome	Hepatomegaly, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm of the...	ORPHA:3162
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Hepatomegaly, Leukopenia, Neutropenia, Pancreatitis, Thrombocytopenia	OMIM:251000
Immunodeficiency 36 With Lymphoproliferation	B-cell lymphoma, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion...	OMIM:616005
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Thrombocytopenia	OMIM:616577
Von Willebrand Disease, Type 3	Impaired platelet aggregation, Thrombocytopenia	OMIM:277480
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Anemia	OMIM:226670
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp...	ORPHA:436159
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Anemia	ORPHA:3405
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Ascites	OMIM:269920
Dermotrichic Syndrome	Anemia	ORPHA:99688
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Pseudo-Torch Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Decreased liver function, Th...	OMIM:251290
Bone Marrow Failure Syndrome 5	Anemia, Erythroid hypoplasia, Pure red cell aplasia	OMIM:618165
Sengers Syndrome	Thrombocytopenia	OMIM:212350
Fanconi Anemia, Complementation Group E	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:600901
Caspase 8 Deficiency	Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy	OMIM:607271
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B...	ORPHA:1414
Pearson Marrow-Pancreas Syndrome	Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Pancytopenia, Pancreatic fibro...	OMIM:557000
Mcleod Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Acanthocytosis, Sple...	OMIM:300842
Beemer-Ertbruggen Syndrome	Thrombocytopenia	ORPHA:1237
Hereditary Orotic Aciduria	Splenomegaly, Anemia	ORPHA:30
Orotic Aciduria	Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi...	OMIM:258900
Hypermanganesemia With Dystonia 1	Elevated hepatic transaminase, Hepatomegaly, Decreased liver function, Cirrhosis, Polycythemia	OMIM:613280
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Cholelithiasis, Normochromic anemia, Thrombocytopenia	OMIM:618775
Methylmalonic Aciduria, Cbla Type	Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Thrombocytopenia	OMIM:251100
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure, Thrombocytopenia	OMIM:611126
Anti-Glomerular Basement Membrane Disease	Anemia	ORPHA:375
Shwachman-Diamond Syndrome 2	Normocytic anemia, Hepatomegaly, Neutropenia, Hyperechogenic pancreas, Thrombocytopenia, Exocrine...	OMIM:617941
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym...	OMIM:602450
Caroli Syndrome	Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port...	ORPHA:480520
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia	OMIM:605432
Farber Lipogranulomatosis	Splenomegaly, Hepatomegaly, Lipogranulomatosis	OMIM:228000
Ornithine Transcarbamylase Deficiency	Splenomegaly, Hepatic failure	ORPHA:664
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po...	OMIM:602347
Carney Triad	Gastrointestinal stroma tumor, Mediastinal lymphadenopathy, Leiomyosarcoma, Lymphadenopathy, Pheo...	ORPHA:139411
Fanconi Anemia, Complementation Group A	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:227650
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Leukopenia, Hepatic fibrosis, Bone marrow hypocellularity, Neutrop...	OMIM:613989
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia	OMIM:616959
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Mirage Syndrome	Myelodysplasia, Anemia, Leukopenia, Hypoplastic spleen, Lymphopenia, Thrombocytopenia	OMIM:617053
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Cholestasis, Cirrhosis, ...	OMIM:614576
Classic Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm, Bone marrow hypocellularity	ORPHA:391
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Hypochromic microcytic anemia, Thrombocytopenia	ORPHA:3240
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Iron deficiency anemia, Thrombocytosis, Intestinal lymphangiectasia, Ascites, Anemia	OMIM:226300
Hermansky-Pudlak Syndrome 2	Hepatomegaly, Absent platelet dense granules, Splenomegaly, Impaired ADP-induced platelet aggrega...	OMIM:608233
Lipodystrophy, Congenital Generalized, Type 3	Splenomegaly, Hepatomegaly, Hepatic steatosis, Hepatosplenomegaly	OMIM:612526
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Hepatomegaly, Pancytopenia, Megaloblastic anemia, Anemia, Neutropenia, Thrombocytopenia	OMIM:277380
Alg8-Cdg	Elevated hepatic transaminase, Thrombocytopenia, Ascites, Anemia	ORPHA:79325
Sepsis In Premature Infants	Hepatomegaly, Splenomegaly, Leukocytosis, Jaundice, Anemia, Decreased liver function, Neutropenia...	ORPHA:90051
Muckle-Wells Syndrome	Splenomegaly, Hepatomegaly, Anemia	ORPHA:575
Anemia, Congenital Dyserythropoietic, Type Iiia	Macrocytic anemia, Jaundice, Anemia of inadequate production, Congenital hypoplastic anemia	OMIM:105600
Hemochromatosis, Type 2A	Splenomegaly, Hepatomegaly, Cirrhosis	OMIM:602390
Hermansky-Pudlak Syndrome 5	Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia	OMIM:614074
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal reticulocyte morphology	ORPHA:2522
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Thrombocytopenia, Splenomegaly, Leukopenia, Macrovesicular hepatic steatosis, Bone ...	OMIM:617303
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:79292
Familial Thrombocytosis	Acute myeloid leukemia, Myelodysplasia, Splenomegaly, Chronic myelogenous leukemia, Thrombocytosis	ORPHA:71493
Glycogen Storage Disease Ixa1	Splenomegaly, Hepatomegaly, Elevated hepatic transaminase	OMIM:306000
Immunodeficiency 60 And Autoimmunity	Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count	OMIM:618394
Aceruloplasminemia	Anemia	OMIM:604290
Joubert Syndrome 33	Splenomegaly	OMIM:617767
Diamond-Blackfan Anemia 10	Macrocytic anemia, Steroid-responsive anemia, Reticulocytopenia, Anemia	OMIM:613309
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Pancreatic cysts, Pulmonary capillary hemangiomatosis, Spinal hemangiob...	OMIM:193300
Hypophosphatasia	Anemia	ORPHA:436
Peutz-Jeghers Syndrome	Pancreatic adenocarcinoma, Neoplasm of the nose, Biliary tract neoplasm, Enlarged polycystic ovar...	ORPHA:2869
Abcd Syndrome	Polycythemia	OMIM:600501
Hurler-Scheie Syndrome	Splenomegaly, Hepatomegaly, Abnormality of the tonsils	ORPHA:93476
Corticosteroid-Binding Globulin Deficiency	Anemia	OMIM:611489
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Mevalonic Aciduria	Splenomegaly	ORPHA:29
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis	ORPHA:59303
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice, Normochromic anem...	OMIM:615512
Neuraminidase Deficiency	Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Ascites	OMIM:256550
Fanconi Anemia, Complementation Group C	Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Leukemia, Thro...	OMIM:227645
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, B lymphocytopenia	OMIM:616084
Eosinophilic Gastroenteritis	Leukocytosis, Ascites, Eosinophilia, Anemia	ORPHA:2070
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Neutrophilia, Generalized lymphadenopathy, Splenomeg...	ORPHA:829
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Thrombocytopenia, Pe...	OMIM:617052
Majeed Syndrome	Hepatomegaly, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis, Hypochromic microcytic a...	ORPHA:77297
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Cardiomegaly, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Hepatic failure, ...	OMIM:608013
Solitary Rectal Ulcer Syndrome	Anemia	ORPHA:209964
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Leukocytosis, Thrombocytopenia	ORPHA:83601
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Myelodysplasia, Erythroid hypoplasia, Reticulocyto...	ORPHA:124
Pseudo-Torch Syndrome 2	Elevated hepatic transaminase, Hepatomegaly, Ascites, Thrombocytopenia	OMIM:617397
Q Fever	Elevated hepatic transaminase, Hepatomegaly, Thrombocytopenia, Splenomegaly, Hepatitis, Hepatospl...	ORPHA:781
Lig4 Syndrome	Acute lymphoblastic leukemia, Pancytopenia, Myelodysplasia, Thrombocytopenia	OMIM:606593
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Laryngeal papilloma	OMIM:617388
Holocarboxylase Synthetase Deficiency	Thrombocytopenia	ORPHA:79242
Shwachman-Diamond Syndrome	Normocytic anemia, Hepatomegaly, Macrocytic anemia, Transient neutropenia, Aplastic anemia, Acute...	ORPHA:811
Marburg Hemorrhagic Fever	Elevated hepatic transaminase, Reticulocytosis, Jaundice, Neutrophilia in presence of infection, ...	ORPHA:99826
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Brain neoplasm, Pelvic mass, Jaundice, Spinal cord tumor, Ovarian neopl...	ORPHA:370348
Aicardi-Goutieres Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Prolonged neonatal jaundice, Thrombocy...	OMIM:225750
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis	OMIM:608885
Hellp Syndrome	Elevated hepatic transaminase, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentrat...	ORPHA:244242
Lysinuric Protein Intolerance	Hepatomegaly, Splenomegaly, Anemia, Leukopenia, Hemophagocytosis, Pancreatitis, Thrombocytopenia	OMIM:222700
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel...	OMIM:601847
Ebola Hemorrhagic Fever	Acute pancreatitis, Hepatitis, Leukopenia, Lymphopenia, Thrombocytopenia	ORPHA:319218
Malt Lymphoma	Mediastinal lymphadenopathy, B-cell lymphoma, Anemia, Lymphadenopathy	ORPHA:52417
Pediatric-Onset Graves Disease	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Neutropenia in presence of a...	ORPHA:525731
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, He...	OMIM:235555
Fanconi Anemia, Complementation Group S	Breast carcinoma, Ovarian carcinoma, Anemia, Ovarian neoplasm	OMIM:617883
Combined Oxidative Phosphorylation Deficiency 40	Decreased liver function, Anemia	OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42	Decreased liver function, Anemia	OMIM:618839
Pediatric Systemic Lupus Erythematosus	Lymphopenia, Lymphadenopathy, Leukopenia, Microangiopathic hemolytic anemia, Ascites, Thrombocyto...	ORPHA:93552
Necrotizing Enterocolitis	Peritonitis, Leukocytosis, Neutropenia, Ascites, Thrombocytopenia	ORPHA:391673
Diamond-Blackfan Anemia 21	Erythroid hypoplasia, Thrombocytopenia, Anemia, Osteosarcoma	OMIM:620072
Immunodeficiency, Common Variable, 7	Splenomegaly	OMIM:614699
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Cervical lymphadenopathy, Decreased mean platelet volume, Lymphadenopathy, Lymphocytosis, Thrombo...	OMIM:617718
Congenital Disorder Of Glycosylation, Type Iij	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic failure	OMIM:613489
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Hepatic fibrosis, Bone marrow hypocellularity, Thrombocytopenia	OMIM:224230
Farber Disease	Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Thrombocytopenia,...	ORPHA:333
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Hepatic melanin-like lysosomal pigmentation,...	OMIM:208085
Fanconi Anemia, Complementation Group R	Bone marrow hypocellularity, Anemia	OMIM:617244
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:266120
Recessive Dystrophic Epidermolysis Bullosa Inversa	Basal cell carcinoma, Cutaneous melanoma, Anemia, Squamous cell carcinoma	ORPHA:79409
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Schimke Immuno-Osseous Dysplasia	Non-Hodgkin lymphoma, Lymphoproliferative disorder, Thrombocytopenia, Decreased proportion of nai...	ORPHA:1830
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Elevated hepatic transaminase, Pancytopenia, Thrombocytopenia, Spl...	ORPHA:167
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Cholelithiasis, Thrombocytopenia	OMIM:263700
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Thrombocytopenia	ORPHA:77261
Acute Radiation Syndrome	Lymphopenia, Granulocytopenia, Thrombocytopenia	ORPHA:454831
Neuroblastoma, Susceptibility To, 1	Abdominal mass, Ganglioneuroblastoma, Neuroblastoma, Ganglioneuroma, Anemia	OMIM:256700
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In...	OMIM:613027
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Lymphadenitis, Leukocytosis, Splenomegaly, Cholestas...	OMIM:615895
Osteopetrosis, Autosomal Recessive 9	Anemia	OMIM:620366
Thrombocytopenia 1	Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia	OMIM:313900
Maternal Uniparental Disomy Of Chromosome 6	Thrombocytopenia	ORPHA:96181
Nephronophthisis 4	Anemia	OMIM:606966
Gaisböck Syndrome	Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased hematocrit, Elevated...	ORPHA:90041
Neutrophilic Dermatosis, Acute Febrile	Anemia	OMIM:608068
Braddock-Carey Syndrome 1	Thrombocytopenia	OMIM:619980
Niemann-Pick Disease, Type C1	Hepatomegaly, Fatal liver failure in infancy, Fetal ascites, Bone-marrow foam cells, Splenomegaly...	OMIM:257220
Ivic Syndrome	Leukocytosis, Thrombocytopenia	ORPHA:2307
Kikuchi-Fujimoto Disease	Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Thrombocytopenia, Cervi...	ORPHA:50918
Icf Syndrome	Anemia, Lymphopenia, Abnormality of neutrophils	ORPHA:2268
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Splenomegaly, Jaundice, Intrah...	OMIM:607765
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Disseminated cutaneous warts, Abnormal lymphatic vessel morphology, Ascites,...	ORPHA:90362
Schimke Immunoosseous Dysplasia	Pancytopenia, Abnormal T cell morphology, Anemia, Neutropenia, Lymphopenia, Thrombocytopenia	OMIM:242900
Shigellosis	Abscess, Leukocytosis, Peritonitis, Cholestasis, Microangiopathic hemolytic anemia, Splenic absce...	ORPHA:810
Fanconi Anemia, Complementation Group F	Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:603467
Catastrophic Antiphospholipid Syndrome	Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:464343
Snakebite Envenomation	Thrombocytopenia	ORPHA:449285
Recon Progeroid Syndrome	Thrombocytopenia, Anemia	OMIM:620370
Dyskeratosis Congenita, Autosomal Dominant 3	Pancytopenia, Aplastic anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:613990
Isolated Sedoheptulokinase Deficiency	Portal hypertension, Hepatitis, Cholestasis, Hypochromic microcytic anemia, Cholestatic liver dis...	ORPHA:440713
Weismann-Netter Syndrome	Anemia	ORPHA:3344
Zika Virus Disease	Thrombocytopenia	ORPHA:448237
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholest...	OMIM:613812
Interstitial Lung And Liver Disease	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:615486
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Thrombocytopenia	OMIM:617710
Tarp Syndrome	Extramedullary hematopoiesis	ORPHA:2886
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin...	OMIM:102700
Hyperparathyroidism, Neonatal Severe	Splenomegaly, Hepatomegaly, Anemia	OMIM:239200
Gastrointestinal Stromal Tumor	Gastrointestinal stroma tumor, Esophageal neoplasm, Abnormality of the liver, Anemia, Sarcoma	ORPHA:44890
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,...	OMIM:211600
Congenital Pulmonary Lymphangiectasia	Splenomegaly, Hepatomegaly, Ascites	ORPHA:2414
Fanconi Anemia, Complementation Group P	Pancytopenia, Anemia, Squamous cell carcinoma	OMIM:613951
Idiopathic Hypereosinophilic Syndrome	Elevated hepatic transaminase, Neutrophilia, Generalized lymphadenopathy, Cholangitis, Eosinophil...	ORPHA:3260
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Lymphoma, ...	ORPHA:906
Sting-Associated Vasculopathy, Infantile-Onset	Follicular hyperplasia, Paratracheal lymphadenopathy, Leukopenia, Thrombocytosis, Lymphopenia, An...	OMIM:615934
Overlap Myositis	Elevated hepatic transaminase, Leukopenia, Thrombocytopenia	ORPHA:206572
Chronic Granulomatous Disease	Hepatomegaly, Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lymphadenopathy	ORPHA:379
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Hepatic steatosis, Thrombocytopenia, Elevated hepatic transaminase	ORPHA:99901
Nephronophthisis 11	Hepatic fibrosis, Anemia	OMIM:613550
Developmental And Epileptic Encephalopathy 50	Schistocytosis, Anisopoikilocytosis, Anemia, Acanthocytosis	OMIM:616457
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome...	ORPHA:131
Lathosterolosis	Hepatomegaly, Intrahepatic cholestasis, Anisopoikilocytosis, Abnormal platelet morphology, Hepati...	ORPHA:46059
Sandifer Syndrome	Anemia	ORPHA:71272
Myopathy With Lactic Acidosis, Hereditary	Anemia, Sideroblastic anemia, Leukopenia	OMIM:255125
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal erythrocyte enzyme level, Splenomegaly, Hep...	ORPHA:264580
Smith-Kingsmore Syndrome	Thrombocytopenia	OMIM:616638
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Oropharyngeal squamous cell carcinoma, Autoimmune thrombocytopenia, ...	ORPHA:391487
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:85414
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole...	OMIM:618641
Adams-Oliver Syndrome 6	Splenomegaly, Hepatic fibrosis, Portal hypertension	OMIM:616589
Avian Influenza	Elevated hepatic transaminase, Hepatitis, Leukopenia, Lymphopenia, Thrombocytopenia	ORPHA:454836
Congenital Factor Ii Deficiency	Anemia	ORPHA:325
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Normochromic anemia, Thrombocytopenia	OMIM:254900
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Anemia	ORPHA:329971
Dyskeratosis Congenita	Neoplasm of the pancreas, Hepatomegaly, Abnormality of neutrophils, Thrombocytopenia, Splenomegal...	ORPHA:1775
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c...	ORPHA:53035
Wilson Disease	Acute hepatic failure, Hepatomegaly, Hemolytic anemia, Elevated circulating aspartate aminotransf...	OMIM:277900
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233710
Adams-Oliver Syndrome	Portal hypertension, Congenital hepatic fibrosis, Leukopenia, Cirrhosis, Ascites, Thrombocytopenia	ORPHA:974
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Hepatomegaly, Lymphopenia, Autoim...	OMIM:619573
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Lymphoproliferative disorder, Portal h...	OMIM:615688
Nephronophthisis 1	Anemia	OMIM:256100
Amoebiasis Due To Entamoeba Histolytica	Elevated hepatic transaminase, Liver abscess, Lung abscess, Leukocytosis, Anemia	ORPHA:67
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Lymphoma, Lymphadenopa...	ORPHA:33226
Attrv122I Amyloidosis	Left ventricular hypertrophy, Anemia, Cardiomegaly	ORPHA:85451
Congenital Disorder Of Glycosylation, Type Iig	Giant platelets, Anemia, Left ventricular hypertrophy, Cholesteatoma, Thrombocytopenia	OMIM:611209
Diamond-Blackfan Anemia 1	Macrocytic anemia, Myelodysplasia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence ...	OMIM:105650
Stevens-Johnson Syndrome	Acute hepatic failure, Elevated hepatic transaminase, Abnormality of neutrophils, Thrombocytopeni...	ORPHA:36426
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatocellular adenoma, Hepatic fibros...	ORPHA:79240
Stiff-Person Syndrome	Anemia	OMIM:184850
Fanconi Anemia, Complementation Group D2	Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Leukemia, Neutropenia, Annu...	OMIM:227646
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Splenomegaly, Cirrhosis, Hepatocellula...	OMIM:235200
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233690
Fetal And Neonatal Alloimmune Thrombocytopenia	Neonatal alloimmune thrombocytopenia	ORPHA:853
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Elevated hepatic transaminase, Severe B lymphocytopenia, Portal hypertension, T...	OMIM:620005
Holocarboxylase Synthetase Deficiency	Thrombocytopenia	OMIM:253270
3-Methylglutaconic Aciduria, Type Viib	Leukopenia, Hepatic steatosis, Thrombocytopenia, Neutropenia	OMIM:616271
Toxic Epidermal Necrolysis	Acute hepatic failure, Elevated hepatic transaminase, Anemia, Neutropenia, Pancreatitis, Thromboc...	ORPHA:537
Mixed Connective Tissue Disease	Hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy, Leuko...	ORPHA:809
Senior-Boichis Syndrome	Elevated hepatic transaminase, Malformation of the hepatic ductal plate, Portal hypertension, Con...	ORPHA:84081
Osteopetrosis, Autosomal Recessive 7	Splenomegaly, Hepatomegaly, Anemia	OMIM:612301
Nijmegen Breakage Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Glioma, B-cell lymphoma, Rhabdomyosarcoma, Lymphom...	ORPHA:647
Mogs-Cdg	Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Left ventricular hypertrophy, Thrombocytopenia	ORPHA:79330
Autosomal Recessive Polycystic Kidney Disease	Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperplasia, Congenital hepatic fib...	ORPHA:731
Alveolar Echinococcosis	Liver abscess, Cholangitis, Portal hypertension, Hepatic cysts, Eosinophilia, Pancreatic cysts, A...	ORPHA:284
Sweet Syndrome	Acute myeloid leukemia, Neutrophilia, Hematological neoplasm, Leukocytosis, Breast carcinoma, Chr...	ORPHA:3243
Mucopolysaccharidosis, Type Iiib	Splenomegaly, Hepatomegaly, Cardiomegaly	OMIM:252920
Red Cell Permeability Defect	Elliptocytosis	OMIM:179650
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Microvesicular hepatic steatosis, Splenomegaly, Macronodular cirr...	OMIM:619418
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Elevated hepatic transaminase, Leukopenia, Thrombocytopenia, Hepatomegaly	OMIM:301056
Gaucher Disease, Type Iiic	Splenomegaly, Hepatomegaly, Pancytopenia, Cardiomegaly	OMIM:231005
Arteriosclerosis, Severe Juvenile	Anemia	OMIM:208060
Combined Oxidative Phosphorylation Deficiency 55	Thrombocytopenia, Anemia	OMIM:619743
Brucellosis	Hepatomegaly, Liver abscess, Lung abscess, Hypersplenism, Thrombocytopenia, Leukocytosis, Splenom...	ORPHA:1304
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Hepatomegaly, Generalized lymphadenopathy, Pancytopenia, Thrombocytopenia, Sple...	OMIM:615846
Rift Valley Fever	Elevated hepatic transaminase, Jaundice, Hepatitis, Anemia, Thrombocytopenia	ORPHA:319251
Alport Syndrome 1, X-Linked	Diffuse leiomyomatosis, Thrombocytopenia	OMIM:301050
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Niemann-Pick Disease, Type C2	Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Sea-blue histiocytos...	OMIM:607625
Hyper-Igd Syndrome	Neutrophilia, Lymphadenitis, Leukocytosis, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Ren...	OMIM:260920
Systemic Lupus Erythematosus	Leukopenia, Hemolytic anemia, Thrombocytopenia, Lymphadenopathy	ORPHA:536
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	ORPHA:309854
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Abnormality of the pancreas, Lymphopenia, Anemia	ORPHA:935
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Fanconi Anemia, Complementation Group B	Aplastic anemia, Thrombocytopenia	OMIM:300514
Juvenile Polyposis Syndrome	Duodenal adenocarcinoma, Anemia	OMIM:174900
Dyskeratosis Congenita, Digenic	Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Anemia	OMIM:620040
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Neoplasm of the liver, De...	ORPHA:77293
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Anemia, Squamous cell carcinoma	OMIM:226600
Adams-Oliver Syndrome 5	Portal vein thrombosis, Splenomegaly, Hypersplenism, Cavernous hemangioma, Right ventricular hype...	OMIM:616028
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Splenomegaly, Hepatomegaly, Neutrophilia, Abscess	OMIM:612852
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Thrombocytopenia, Hepatomegaly	OMIM:619005
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatomegaly, Splenomegaly, Micronodular cirrhosis, Hepatic failure, Ascites, Thrombocytopenia	OMIM:301072
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:612199
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Splenomegaly, Hepatomegaly	OMIM:618541
Hereditary Mixed Polyposis Syndrome	Refractory anemia, Endometrial carcinoma, Juvenile colonic polyposis, Desmoid tumors, Thyroid car...	ORPHA:157794
Whipple Disease	Splenomegaly, Hepatomegaly, Mediastinal lymphadenopathy, Anemia	ORPHA:3452
Bernard-Soulier Syndrome	Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Impaired ristoce...	ORPHA:274
Osteootohepatoenteric Syndrome	Microvesicular hepatic steatosis, Cholestasis, Portal fibrosis, Hepatic fibrosis, Prolonged neona...	OMIM:619377
Tyrosinemia, Type I	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Hepatic failure...	OMIM:276700
Cryoglobulinemic Vasculitis	Hepatomegaly, Viral hepatitis, Splenomegaly, Mediastinal lymphadenopathy, Abnormality of the liver	ORPHA:91138
8P11.2 Deletion Syndrome	Splenomegaly, Hemolytic anemia, Spherocytosis	ORPHA:251066
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:277400
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Glioma, Rhabdomyosarcoma, Medulloblastoma, Lymphoma, T lymphocytopen...	OMIM:251260
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B...	OMIM:607626
Macrocephaly/Autism Syndrome	Splenomegaly, Hepatomegaly, Lymphopenia	OMIM:605309
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Pancytopenia, Oropharyngeal squamous cell carcinoma, Myelodysplasia, Hodg...	OMIM:305000
Sarcoidosis, Susceptibility To, 2	Splenomegaly, Hepatomegaly, Mediastinal lymphadenopathy	OMIM:612387
21Q22.11Q22.12 Microdeletion Syndrome	Thrombocytopenia, Anemia	ORPHA:261323
Atelis Syndrome 2	Thrombocytopenia, Anemia	OMIM:620185
Hermansky-Pudlak Syndrome 10	Splenomegaly, Hepatomegaly, Neutropenia	OMIM:617050
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:619525
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hepatosplenomegaly, Anemia, Leukopenia, Bone marrow hypocellularity, Enlarged kidney, Thrombocyto...	ORPHA:505248
Cogan Syndrome	Thrombocytosis, Leukocytosis, Anemia	ORPHA:1467
Mucopolysaccharidosis, Type Iiia	Splenomegaly, Hepatomegaly	OMIM:252900
Noonan Syndrome 4	Thrombocytopenia	OMIM:610733
Senior-Loken Syndrome 1	Anemia	OMIM:266900
Pachydermoperiostosis	Hepatomegaly, Splenomegaly, Neoplasm of the lung, Neoplasm of the skin, Anemia	ORPHA:2796
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Pancytopenia, Enlarged tonsils, Anemia, Leukopenia, Elliptocytosis, Bone marrow hyp...	ORPHA:2785
Apolipoprotein C-Ii Deficiency	Splenomegaly, Hepatomegaly, Pancreatitis	OMIM:207750
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,...	OMIM:208540
Nodular Non-Suppurative Panniculitis	Splenomegaly, Hepatomegaly	ORPHA:33577
Lymphatic Malformation 7	Ascites, Anemia	OMIM:617300
Ivic Syndrome	Leukocytosis, Thrombocytopenia	OMIM:147750
Multiple Myeloma	Splenomegaly, Anemia, Lymphadenopathy	ORPHA:29073
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:306400
Gm1-Gangliosidosis, Type Ii	Splenomegaly, Hepatomegaly, Sea-blue histiocytosis	OMIM:230600
Legionnaires Disease	Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Bone marrow hypocellularity, Lymphopenia, Pan...	ORPHA:549
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminan...	ORPHA:2137
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pancytopenia, Abnormality of the spleen, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Hepa...	ORPHA:2072
Hardikar Syndrome	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic bile duct cysts, Cholangitis, Portal hy...	OMIM:301068
American Trypanosomiasis	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:3386
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Thrombocytopenia	OMIM:612394
Bacterial Toxic-Shock Syndrome	Abscess, Peritonitis, Hepatitis, Increased circulating myelocyte count, Increased circulating met...	ORPHA:36234
Polycythemia Vera	Hepatomegaly, Portal hypertension, Myelodysplasia, Portal vein thrombosis, Splenomegaly, Acute le...	ORPHA:729
Lujo Hemorrhagic Fever	Elevated hepatic transaminase, Leukocytosis, Fulminant hepatitis, Leukopenia, Lymphopenia, Thromb...	ORPHA:319213
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Thrombocytopenia	ORPHA:457351
Scheie Syndrome	Splenomegaly, Hepatomegaly	ORPHA:93474
Thrombocytopenia-Absent Radius Syndrome	Thrombocytopenia	ORPHA:3320
Lysinuric Protein Intolerance	Elevated hepatic transaminase, Hepatomegaly, Thrombocytopenia, Hepatosplenomegaly, Leukopenia, He...	ORPHA:470
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega...	ORPHA:567983
Syndromic Diarrhea	Hepatomegaly, Increased mean platelet volume, Splenomegaly, Abnormality of the liver, Hypoplasia ...	ORPHA:84064
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an...	OMIM:614162
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Lymphadenopathy, Anemia, Hepatosplenomegaly	ORPHA:85408
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Thrombocytopenia, Capillary hemangioma, Anemia	ORPHA:163979
Primary Sjögren Syndrome	Normocytic anemia, Chronic active hepatitis, Lymphoproliferative disorder, Lymphoma, Biliary cirr...	ORPHA:289390
Lysosomal Acid Lipase Deficiency	Elevated hepatic transaminase, Fatal liver failure in infancy, Bone-marrow foam cells, Hypersplen...	ORPHA:275761
Takenouchi-Kosaki Syndrome	Thrombocytopenia, Increased mean platelet volume	OMIM:616737
Agammaglobulinemia, X-Linked	Hepatocellular carcinoma, Enteroviral hepatitis, T lymphocytopenia, Lymph node hypoplasia, B lymp...	OMIM:300755
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Neutropenia, Hepa...	OMIM:232220
Dubowitz Syndrome	Abnormality of neutrophils, Lymphoma, Acute lymphoblastic leukemia, Anemia, Neoplasm, Thrombocyto...	ORPHA:235
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Elevated hepatic transaminase, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenome...	ORPHA:37042
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest...	ORPHA:30391
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly	OMIM:238600
Wars2-Related Combined Oxidative Phosphorylation Defect	Thrombocytopenia	ORPHA:572798
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Pancreatic endocrine t...	ORPHA:892
Gaucher Disease	Hepatomegaly, Pancytopenia, Splenomegaly, Hepatitis, Anemia, Cirrhosis, Thrombocytopenia	ORPHA:355
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of the gallblad...	ORPHA:171
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Enlarged polycystic ovaries, Lymphoma, Biliary cirrhosis, Hodgkin lymphoma, Leu...	ORPHA:2298
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Abnormality of the liver, Ascites, Thrombocytopenia	ORPHA:464321
Familial Mediterranean Fever	Hepatomegaly, Neutrophilia, Splenomegaly, Leukocytosis, Peritonitis	OMIM:249100
Deeah Syndrome	Decreased hemoglobin concentration, Thrombocytopenia, Exocrine pancreatic insufficiency, Hepatome...	OMIM:619004
Familial Tumoral Calcinosis	Splenomegaly, Hepatomegaly, Neoplasm of the skin	ORPHA:53715
Primary Hyperoxaluria Type 1	Anemia	ORPHA:93598
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Jaundice, Neutropenia, Thrombocytopenia, Megaloblastic anemia	ORPHA:79282
Thrombocytopenia-Absent Radius Syndrome	Eosinophilia, Facial capillary hemangioma, Pancreatic cysts, Leukocytosis, Hepatosplenomegaly, An...	OMIM:274000
Hyperlipoproteinemia, Type Id	Splenomegaly, Hepatomegaly, Recurrent pancreatitis, Pancreatitis	OMIM:615947
Trichohepatoenteric Syndrome 1	Hepatomegaly, Increased mean platelet volume, Abnormality of the pancreas, Splenomegaly, Jaundice...	OMIM:222470
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f...	OMIM:263200
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Lipoma, Splenomegaly, Nephroblastoma	OMIM:612918
Neuroleptic Malignant Syndrome	Elevated hepatic transaminase, Thrombocytosis, Leukocytosis, Thrombocytopenia	ORPHA:94093
Tick-Borne Encephalitis	Elevated hepatic transaminase, Leukopenia, Leukocytosis, Thrombocytopenia	ORPHA:297
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Hamartomatous polyposis, Juvenile gastrointestinal polyposis, Hepatic arteriovenous malformation,...	OMIM:175050
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Cardiomegaly, Retroperitoneal fibrosis, Splenomegaly, Cervical lymphadenopathy, Hep...	OMIM:602782
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Leukopenia, Lymphocytosis, Elevated hepatic iron concentration...	OMIM:619991
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Brain abscess, Leukocytosis, Pancreatitis, Thrombocytopenia	ORPHA:544482
Reynolds Syndrome	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestas...	OMIM:613471
Fibular Hemimelia	Thrombocytopenia	ORPHA:93323
Crimean-Congo Hemorrhagic Fever	Hepatomegaly, Acute pancreatitis, Neutrophilia, Pancytopenia, Splenomegaly, Leukocytosis, Jaundic...	ORPHA:99827
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Hepati...	OMIM:610199
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Anemia	OMIM:174000
Hemorrhagic Fever-Renal Syndrome	Elevated hepatic transaminase, Thrombocytopenia, Leukocytosis, Anemia	ORPHA:340
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Microcytic anemia, Cardiomegaly, Splenomegaly, Lymph...	OMIM:256040
Alg12-Cdg	Elevated hepatic transaminase, B lymphocytopenia, Thrombocytopenia	ORPHA:79324
Sarcoidosis	Hemolytic anemia, Hepatomegaly, Eosinophilia, Portal hypertension, Thrombocytopenia, Increased T ...	ORPHA:797
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Thrombocytopenia, Abnormality of the lymphatic system, Increased mean platelet volume	ORPHA:487796
Autosomal Recessive Malignant Osteopetrosis	Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy	ORPHA:667
Yellow Fever	Acute pancreatitis, Neutrophilia, Elevated circulating aspartate aminotransferase concentration, ...	ORPHA:99829
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, B-cell lymphoma, Follicular hyperplasia, Splenomegaly, Hep...	OMIM:619381
Kenny-Caffey Syndrome, Type 2	Anemia	OMIM:127000
Primary Triglyceride Deposit Cardiomyovasculopathy	Splenomegaly, Hepatomegaly, Vacuolated lymphocytes, Pancreatitis	ORPHA:565612
Leptospirosis	Hepatomegaly, Jaundice, Hepatitis, Lymphadenopathy, Elevated serum transaminases during infection...	ORPHA:509
Hepatoerythropoietic Porphyria	Erythroid hyperplasia, Hemolytic anemia, Splenomegaly	ORPHA:95159
Jacobsen Syndrome	Annular pancreas, Thrombocytopenia	OMIM:147791
Aicardi-Goutières Syndrome	Elevated hepatic transaminase, Enchondroma, Neonatal alloimmune thrombocytopenia, Cardiomegaly, H...	ORPHA:51
Igg4-Related Dacryoadenitis And Sialadenitis	Retroperitoneal fibrosis, Thrombocytopenia, Lymphadenopathy	ORPHA:79078
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Myelodysplasia, Thrombocytopenia, Leukopenia, Abnorma...	ORPHA:84
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Splenom...	OMIM:269700
Camurati-Engelmann Disease	Splenomegaly, Leukopenia, Anemia, Hepatomegaly	ORPHA:1328
Beckwith-Wiedemann Syndrome	Hepatomegaly, Nephroblastoma, Rhabdomyosarcoma, Cardiomegaly, Splenomegaly, Adrenocortical carcin...	ORPHA:116
Digeorge Syndrome	Thrombocytopenia, Splenomegaly, Abnormal thymus morphology, Hypoplasia of the thymus, Cholelithia...	OMIM:188400
Acute Liver Failure	Elevated hepatic transaminase, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellular necrosis, He...	ORPHA:90062
Blau Syndrome	Clear cell renal cell carcinoma, Splenomegaly, Lymphadenopathy, Abnormality of the liver, Anemia	ORPHA:90340
Cornelia De Lange Syndrome 1	Duplication of internal organs, Thrombocytopenia	OMIM:122470
Roberts Syndrome	Midface capillary hemangioma, Thrombocytopenia	ORPHA:3103
Ogden Syndrome	Cardiomegaly, Thrombocytopenia, Jaundice, Microvesicular hepatic steatosis, Iron deficiency anemi...	OMIM:300855
Jacobsen Syndrome	Annular pancreas, Bone marrow hypocellularity, Thrombocytopenia	ORPHA:2308
Exercise-Induced Malignant Hyperthermia	Hepatic failure, Decreased liver function, Thrombocytopenia	ORPHA:466650
22Q11.2 Deletion Syndrome	Abnormality of the tonsils, Abnormality of thrombocytes, Splenomegaly, Hypoplasia of the thymus, ...	ORPHA:567
Oculocerebrorenal Syndrome Of Lowe	Benign neoplasm of the central nervous system, Thrombocytopenia, Odontogenic neoplasm, Neoplasm o...	ORPHA:534
Ectodermal Dysplasia And Immunodeficiency 2	Splenomegaly, Hepatomegaly	OMIM:612132
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy	OMIM:181000
Noonan Syndrome 1	Neurofibrosarcoma, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia	OMIM:163950
Osteogenesis Imperfecta	Visceral angiomatosis, Thrombocytopenia	ORPHA:666

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Tspan33

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Tspan33.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Tspan33^{em1(IMPC)Wtsi}	PMC7263671

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Tspan33^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Tspan33^{em1(IMPC)Wtsi}	Exon Deletion	Mice
Tspan33^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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