Gene Summary

Name:
programmed cell death 7
Synonyms:
ES18

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
microphthalmia Pdcd7em1(IMPC)Mbp HET E15.5 0.00
abnormal placenta morphology Pdcd7em1(IMPC)Mbp HET E15.5 0.00
abnormal spleen morphology Pdcd7em1(IMPC)Mbp HET Early adult 0.00
small liver Pdcd7em1(IMPC)Mbp HET Early adult 0.00
increased red blood cell distribution width Pdcd7em1(IMPC)Mbp HET Early adult 1.47×10-05
enlarged spleen Pdcd7em1(IMPC)Mbp HET Early adult 0.00
abnormal liver morphology Pdcd7em1(IMPC)Mbp HET Early adult 0.00
preweaning lethality, complete penetrance Pdcd7em1(IMPC)Mbp HOM   Early adult 0.00

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Viewing: all phenotypes

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 Pdcd7 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.

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

The table below shows human diseases predicted to be associated to Pdcd7 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Hemoglobin H Disease
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia OMIM:613978
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Jaundice, Anisocytosis, Poikilocytosis... OMIM:615631
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Erythroid hyperplasia, Anemia, Sp... OMIM:616860
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... OMIM:603902
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Anemia, Congenital Dyserythropoietic, Type Ia
Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Prolonged neo... OMIM:224120
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... ORPHA:3203
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Anemia, Splenomegaly, Anisoc... ORPHA:766
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly OMIM:206400
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production OMIM:603529
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... OMIM:206000
Sea-Blue Histiocyte Disease
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequat... OMIM:237800
Reticuloendotheliosis, X-Linked
Lymphadenopathy, Hepatosplenomegaly, Anemia, Jaundice OMIM:312500
Anemia, Hypochromic Microcytic, With Iron Overload 1
Abnormality of the liver, Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:206100
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... OMIM:133180
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Elevated hepatic transaminase OMIM:614480
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Nanophthalmos 4
Microphthalmia OMIM:615972
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocytopenia, Anemia of inadequate pro... ORPHA:67044
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thromb... OMIM:615285
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Reticulocytosis, Anemia of inadequate ... OMIM:613673
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Anemia, Congenital Dyserythropoietic, Type Ii
Anemia of inadequate production, Cholelithiasis, Splenomegaly, Reticulocytosis, Jaundice OMIM:224100
Tyrosinemia Type 1
Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma, Splenomegaly ORPHA:882
Iron-Refractory Iron Deficiency Anemia
Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia OMIM:206200
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Heinz bodies, Splenomegaly, Fava bean-induced hemolytic anemia, Anisocytosis, Poiki... OMIM:300908
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Alpha-Thalassemia
Anemia, Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... ORPHA:846
Microphthalmia, Isolated, With Coloboma 6
Optic disc hypoplasia, Bilateral microphthalmos, Hypoplasia of the fovea OMIM:613703
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Poikilocytosis, Decreased mean corpuscular volume OMIM:615234
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Ceroid storage disease
Abnormality of the spleen, Hepatic failure OMIM:214200
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegal... OMIM:616689
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Thrombocytosis, Macrocytic anemia, Leukopenia, Bone marrow hypocellularity, Erythroid hypoplasia,... ORPHA:86841
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis OMIM:618852
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly OMIM:615947
Immunodeficiency 48
Hepatomegaly, Splenomegaly OMIM:269840
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Spherocytosis, Type 5
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:612690
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic ane... ORPHA:444463
Erythrocytosis, Familial, 8
Normocytic anemia, Polycythemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyti... OMIM:222800
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly OMIM:608971
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly OMIM:618495
Gombo Syndrome
Microphthalmia OMIM:233270
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:185000
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly OMIM:185020
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis OMIM:271500
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Iron deficiency anemia, Splenomegaly, Hepatic fa... OMIM:616278
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly OMIM:602079
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... OMIM:235700
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic fibrosis, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, El... OMIM:619658
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Mastocytosis ORPHA:66661
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:182900
Autoimmune Hemolytic Anemia, Cold Type
Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly ORPHA:228312
Spherocytosis, Type 4
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:612653
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Nephronophthisis 19
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Splenomegaly, Cholestasis OMIM:616217
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Hypochromia, Stomatocytosis, Hepatosplenomegaly, Anisocytosi... ORPHA:71275
Spherocytosis, Type 2
Acanthocytosis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:616649
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia OMIM:618963
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Elevated hepatic transaminase, Biliary cirrho... OMIM:617394
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Hemochromatosis, Type 2B
Hepatomegaly, Hepatic fibrosis, Anemia, Splenomegaly, Cirrhosis, Elevated hepatic transaminase OMIM:613313
Elliptocytosis 1
Jaundice, Hemolytic anemia, Elliptocytosis, Splenomegaly OMIM:611804
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Elevated hepatic trans... ORPHA:79301
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Anemia, Anisocytosis, Poikilocytosis, Elevated hepatic transam... ORPHA:98870
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Portal fibrosis, Elevated hepatic transaminase, Bile duct proliferation, Splenomega... OMIM:602347
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Acanthocytosis, Stomatocytosis, Splenomegaly, Jaundice, Reticulocytosis, Sphero... OMIM:109270
Immunodeficiency 84
B lymphocytopenia, Splenomegaly OMIM:619437
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Anemia, Splenomegaly ORPHA:100024
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocyto... OMIM:603552
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymp... OMIM:614470
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly OMIM:615085
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Dominant Beta-Thalassemia
Hepatic fibrosis, Hypochromic microcytic anemia, Hepatocellular carcinoma, Splenomegaly, Persiste... ORPHA:231226
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Splenomegaly ORPHA:79238
Microphthalmia, Isolated 3
Anophthalmia, Microphthalmia OMIM:611038
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Elevated hepatic trans... OMIM:214900
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Hepatomegaly, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythro... ORPHA:75564
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Galactosemia Iii
Jaundice, Hepatomegaly, Splenomegaly OMIM:230350
Thanatophoric Dysplasia, Glasgow Variant
Hepatosplenomegaly, Anemia OMIM:273680
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic fibrosis, Hepatic failure, Splenomegaly OMIM:616719
Nanophthalmos
Microphthalmia ORPHA:35612
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Hepatocellular necrosis, Cardiomegaly, Anisocytosis, Chronic hemolytic anemia, Poik... OMIM:618278
Alpha-Heavy Chain Disease
Hepatomegaly, Ascites, Lymphadenopathy, Anemia, Splenomegaly ORPHA:100025
Niemann-Pick Disease, Type B
Hepatomegaly, Bone-marrow foam cells, Sea-blue histiocytosis, Splenomegaly OMIM:607616
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Increased red cell hemolysis by shear stress, Hepatitis, Cholelithiasis, Splenomega... OMIM:194380
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Pigment gallstones, Cholelithiasis, Splenomegaly, Impaired neutrophil bactericidal activity, Nons... OMIM:613470
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Anemia, Splenomegaly, Hypersplenism, Thrombocytopenia OMIM:610539
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Anemia, Splenomegaly ORPHA:75563
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia, Neural tube defect OMIM:600776
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Progressive Familial Intrahepatic Cholestasis
Jaundice, Hepatomegaly, Cholestasis, Splenomegaly ORPHA:172
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Hepatitis, Splenomegaly, Cirrhosis, ... OMIM:613812
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Microphthalmia ORPHA:83461
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocytopenia OMIM:611490
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Splenomegaly, Chronic hemolytic anemia, Cholecystitis, Reticulocytosis, Jaundice OMIM:266200
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Ascites, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, Splen... OMIM:619463
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion of marg... OMIM:619375
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatomegaly, Anemia, Abnormality of the lymph nodes, Splenomegaly, Hepatosplenomeg... OMIM:612840
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Cholestatic liver disease, ... OMIM:616828
Immunodeficiency 52
Lymphadenopathy, Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, S... OMIM:617514
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic failure, Jaundice ORPHA:75234
Amyloidosis, Familial Visceral
Hepatomegaly, Cholestasis, Splenomegaly OMIM:105200
Beta-Thalassemia
Hepatomegaly, Hepatitis, Abnormal hemoglobin, Anemia, Cholelithiasis, Splenomegaly, Microcytic an... ORPHA:848
Harderoporphyria
Hepatomegaly, Splenomegaly, Reticulocytosis, Prolonged neonatal jaundice, Hemolytic anemia OMIM:618892
Polycythemia Vera
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... OMIM:263300
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly OMIM:611721
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Sandhoff Disease
Hepatomegaly, Splenomegaly ORPHA:796
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Hemophagocytosis OMIM:613101
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Orotic Aciduria
Hypochromia, Anisocytosis, Poikilocytosis, Pyrimidine-responsive megaloblastic anemia, Folate-unr... OMIM:258900
Glycogen Storage Disease Xii
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... OMIM:611881
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Anisocytosis, Poikilocytosis, Decreased mean corpuscular volume, Elliptocytosis OMIM:616959
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Acholic stools, Biliary tract abnormality, Abnormality of the lymphatic system, Spl... ORPHA:1414
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Immunodeficiency 76
B lymphocytopenia, Lymphadenopathy, Splenomegaly, Lymphopenia, T lymphocytopenia OMIM:619164
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Anemia, Splenomegaly OMIM:618107
Hereditary Elliptocytosis
Congenital hemolytic anemia, Stomatocytosis, Cholelithiasis, Splenomegaly, Jaundice, Poikilocytos... ORPHA:288
Foveal Hypoplasia 2
Microphthalmia, Hypoplasia of the fovea OMIM:609218
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly OMIM:314050
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Fish-Eye Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:79292
Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:98293
Cold Agglutinin Disease
Lymphadenopathy, Hepatomegaly, Hemolytic anemia, Splenomegaly ORPHA:56425
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Abnormality of the peritoneum, Splenomegaly ORPHA:545
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, ... OMIM:619220
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... ORPHA:521
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, F... OMIM:601859
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ... ORPHA:2585
Hepatoportal Sclerosis
Hepatocellular carcinoma, Ascites, Leukopenia, Anemia, Nodular regenerative hyperplasia of liver,... ORPHA:64743
Immunodeficiency 14A, Autosomal Dominant
Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... OMIM:615513
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia, Splenomegaly, Jaundice, Exocrine pancreatic insufficiency, Anemia of inadeq... OMIM:612714
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Thro... OMIM:610333
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... ORPHA:232
Erythrocytosis, Familial, 1
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly OMIM:133100
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Increased hepatic echogenicity, Hepatic fibrosis, Leukopenia, Bone-marrow foam cell... OMIM:278000
Schnitzler Syndrome
Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly ORPHA:37748
Glycogen Storage Disease Ixc
Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly, Cirrhosi... OMIM:613027
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Cirrhosis, Intrahepatic cholestasis, Interm... OMIM:601847
Sea-Blue Histiocytosis
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Indolent Systemic Mastocytosis
Hepatomegaly, Lymphadenopathy, Abnormal mast cell morphology, Splenomegaly, Increased proportion ... ORPHA:98848
Sitosterolemia 1
Stomatocytosis, Episodic hemolytic anemia, Splenomegaly, Abnormality of the liver, Giant platelet... OMIM:210250
Dysplastic Cortical Hyperostosis
Hepatomegaly, Splenomegaly ORPHA:2204
Pfapa Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:42642
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Hepatomegaly, Decreased proportion of class-switched memory B cells, Medi... OMIM:615559
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Hepatic failure, Intrahepatic cholesta... OMIM:235555
Ornithine Transcarbamylase Deficiency
Hepatic failure, Splenomegaly ORPHA:664
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Coproporphyria, Hereditary
Jaundice, Hepatomegaly, Splenomegaly OMIM:121300
Combined Immunodeficiency Due To Partial Rag1 Deficiency
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... ORPHA:231154
Immunodeficiency 27A
Leukocytosis, Enlarged mesenteric lymph node, Thrombocytosis, Lymphadenopathy, Anemia, Splenomega... OMIM:209950
Omenn Syndrome
Hepatomegaly, B lymphocytopenia, Lymphadenopathy, Hypoplasia of the thymus, Anemia, Splenomegaly,... OMIM:603554
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Microphthalmia OMIM:120433
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly OMIM:612526
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Increased pro... OMIM:618534
Mmep Syndrome
Microphthalmia ORPHA:3434
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Splenomegaly, Cholestasis, Portal hypertension, Jaundice ORPHA:59303
Wolman Disease
Hepatomegaly, Ascites, Bone-marrow foam cells, Anemia, Splenomegaly, Hepatic failure ORPHA:75233
Gaucher Disease Type 2
Hepatomegaly, Splenomegaly ORPHA:77260
Beta-Thalassemia Intermedia
Leukocytosis, Hepatomegaly, Elevated hepatic iron concentration, Hepatocellular carcinoma, Erythr... ORPHA:231222
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Hepatitis, Splenomegaly, Pancytopenia, Aplastic anemia, Hemophagocytosis OMIM:300635
Immunodeficiency 32B
Splenomegaly OMIM:226990
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Acholic stools, Elevated hepatic transaminase, Splenomegaly, ... OMIM:607765
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Leishmaniasis
Hepatomegaly, Leukopenia, Elevated hepatic transaminase, Lymphadenopathy, Anemia, Splenomegaly, A... ORPHA:507
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Neutropenia, Lymphadenopathy, Fulminant hepatitis, Splenomegaly, Lymphocytosis, Hep... OMIM:308240
Primary Myelofibrosis
Leukocytosis, Hepatomegaly, Thrombocytosis, Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenome... ORPHA:824
Gaucher Disease, Type Iii
Pancytopenia, Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:231000
Dextrocardia With Unusual Facies And Microphthalmia
Anophthalmia, Microphthalmia OMIM:221950
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Splenomegaly OMIM:608540
Babesiosis
Hepatomegaly, Leukopenia, Splenomegaly, Hepatic failure, Thrombocytopenia, Hemolytic anemia, Jaun... ORPHA:108
Lymphoproliferative Syndrome 2
Hepatomegaly, Ascites, Lymphadenopathy, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Aplastic ... OMIM:615122
Hemochromatosis, Type 2A
Cirrhosis, Hepatomegaly, Splenomegaly OMIM:602390
Gaucher Disease, Type Ii
Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly OMIM:230900
Budd-Chiari Syndrome
Hepatomegaly, Ascites, Peritonitis, Splenomegaly, Cirrhosis, Acute hepatic failure, Cholecystitis... ORPHA:131
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Griscelli Syndrome Type 2
Hepatomegaly, Neutropenia, Lymphadenopathy, Splenomegaly, Pancytopenia, Hemophagocytosis, Jaundice ORPHA:79477
Macrocephaly/Autism Syndrome
Hepatomegaly, Lymphopenia, Splenomegaly OMIM:605309
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Hepatomegaly, Decreased proportion of class-switched memory B cells, Neutropen... OMIM:607594
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Jaundice, Hepatomegaly, Hemolytic anemia, Splenomegaly OMIM:608885
Microphthalmia, Syndromic 12
Anophthalmia, Microphthalmia OMIM:615524
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Hepatic steatosis, Acute hepatic failure, Cholestasis, Elevated hepat... OMIM:618641
Lymphoproliferative Syndrome 1
Hepatomegaly, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Autoimmune thrombocytopenia, Dec... OMIM:613011
Faciothoracogenital Syndrome
Microphthalmia OMIM:227320
Wilson Disease
Hepatomegaly, Hepatitis, Anemia, Acute hepatitis, Splenomegaly, Cirrhosis, Hepatic steatosis, Acu... ORPHA:905
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Autoimmune thrombocytopenia, Decrease... OMIM:300853
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jau... OMIM:211600
Gamma-Heavy Chain Disease
Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Autoimmune t... ORPHA:100026
Classic Mycosis Fungoides
Lymphadenopathy, Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly ORPHA:2584
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Hepatocellular necrosis, Ascites, Depletion of mitochondrial DNA in liver, Micronod... OMIM:251880
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:615846
Hereditary Spherocytosis
Hepatomegaly, Anemia, Cholelithiasis, Splenomegaly, Extramedullary hematopoiesis, Increased mean ... ORPHA:822
Sickle Cell Anemia
Leukocytosis, Hepatomegaly, Cardiomegaly, Cholelithiasis, Splenomegaly, Increased red cell sickli... OMIM:603903
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Hepatocellular carcinoma, Elevated hepatic transaminas... ORPHA:158057
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Splenomegaly, Thrombocytopenia ORPHA:79312
Congenital Disorder Of Glycosylation, Type Iij
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic failure, Elevated hepatic transaminase OMIM:613489
Macrophage Activation Syndrome
Hepatomegaly, Neutropenia, Lymphadenopathy, Hepatitis, Anemia, Splenomegaly, Decreased liver func... ORPHA:158061
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
Hurler-Scheie Syndrome
Hepatomegaly, Abnormality of the tonsils, Splenomegaly ORPHA:93476
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Bilateral microphthalmos OMIM:608763
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-be... OMIM:603909
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Lymphadenopathy, Splenomegaly, Intermitte... OMIM:150550
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Neonatal Lupus Erythematosus
Hepatomegaly, Neutropenia, Elevated hepatic transaminase, Anemia, Splenomegaly, Abnormality of th... ORPHA:398124
Elliptocytosis 3
Pyropoikilocytosis, Chronic hemolytic anemia, Decreased mean corpuscular volume, Intermittent jau... OMIM:617948
Immunodeficiency, Common Variable, 2
Lymphadenopathy, Hepatomegaly, Follicular hyperplasia, Splenomegaly OMIM:240500
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hemophagocytosis, Anemia, Splenomegaly OMIM:618398
Proteasome-Associated Autoinflammatory Syndrome 4
Lymphadenopathy, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly OMIM:619183
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Microphthalmia OMIM:615113
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Anemia, Ascites, Splenomegaly ORPHA:1046
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Transaldolase Deficiency
Hepatomegaly, Hepatic fibrosis, Micronodular cirrhosis, Anemia, Splenomegaly, Cirrhosis, Decrease... OMIM:606003
Spondylometaphyseal Dysplasia, Axial
Splenomegaly OMIM:602271
Caroli Disease
Cholangitis, Leukocytosis, Hepatomegaly, Cholangiocarcinoma, Hepatic fibrosis, Ascites, Cholelith... ORPHA:53035
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Biemond Syndrome Type 2
Microphthalmia ORPHA:141333
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Hepatomegaly, Acute leukemia, Lymphadenopathy, Bone marrow hypocellularity, Splenom... ORPHA:3226
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Immunodeficiency 54
Lymphadenopathy, Reduced natural killer cell count, Hepatomegaly, Splenomegaly OMIM:609981
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Hemolytic anemia, Increased mean platelet volume, Splenomegaly OMIM:153670
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Neutropenia, Thrombocytopenia, Sclerosing cholangitis, Hepatitis, Splenomegaly, Cir... OMIM:308230
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Microphthalmia OMIM:212550
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Triosephosphate Isomerase Deficiency
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Chronic hemolytic anemia, C... OMIM:615512
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Classic Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Bone marrow hypocellularity, Splenomegaly ORPHA:391
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Hepatic fibrosis, Cholelithiasis, Splenomegaly, Biliary hyperplasia, Cirrhosis, Hep... ORPHA:567983
Griscelli Syndrome
Hepatomegaly, Ascites, Leukopenia, Lymphadenopathy, Hepatitis, Bone marrow hypocellularity, Splen... ORPHA:381
Meckel Syndrome, Type 8
Anophthalmia, Microphthalmia OMIM:613885
Infantile Sialic Acid Storage Disease
Hepatomegaly, Ascites, Vacuolated lymphocytes, Cardiomegaly, Splenomegaly OMIM:269920
Systemic-Onset Juvenile Idiopathic Arthritis
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:85414
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Congenital Rubella Syndrome
Hepatomegaly, Anemia, Splenomegaly, Thrombocytopenia, Jaundice ORPHA:290
Fetal Gaucher Disease
Abnormality of the spleen, Hepatomegaly, Splenomegaly, Pancytopenia, Thrombocytopenia ORPHA:85212
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microphthalmia OMIM:617914
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia OMIM:610756
Myelofibrosis
Myeloproliferative disorder, Splenomegaly OMIM:254450
Autoimmune Hemolytic Anemia
Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly ORPHA:98375
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Autoimmune... OMIM:616100
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Leukocytosis, Splenomegaly OMIM:611762
Isolated Optic Nerve Hypoplasia/Aplasia
Optic disc hypoplasia, Optic nerve hypoplasia, Unilateral microphthalmos, Aplasia/Hypoplasia of t... ORPHA:137902
Farber Lipogranulomatosis
Hepatomegaly, Lipogranulomatosis, Splenomegaly OMIM:228000
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Beta-Thalassemia Major
Hepatomegaly, Anisopoikilocytosis, Hepatic fibrosis, Hypochromic microcytic anemia, Hepatocellula... ORPHA:231214
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Niemann-Pick Disease, Type A
Hepatomegaly, Ascites, Lymphadenopathy, Bone-marrow foam cells, Splenomegaly, Elevated circulatin... OMIM:257200
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Gaucher Disease, Type I
Hepatomegaly, Anemia, Splenomegaly, Hypersplenism, Pancytopenia, Thrombocytopenia OMIM:230800
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia ORPHA:324416
Mevalonic Aciduria
Splenomegaly ORPHA:29
Hemochromatosis, Type 1
Hepatomegaly, Ascites, Hepatocellular carcinoma, Cardiomegaly, Splenomegaly, Cirrhosis, Elevated ... OMIM:235200
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Sialidosis Type 2
Hepatomegaly, Ascites, Splenomegaly ORPHA:87876
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia ORPHA:1528
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Ascites, Splenomegaly ORPHA:2414
Cofs Syndrome
Microphthalmia ORPHA:1466
Adult-Onset Still Disease
Leukocytosis, Hepatomegaly, Hepatitis, Bone marrow hypocellularity, Splenomegaly, Neutrophilia, G... ORPHA:829
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenopathy, Lymphadenitis, Splenomegaly, Hepatosplenomegaly, Impaired oxidative burst, Acute... OMIM:618935
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia OMIM:248450
Omenn Syndrome
Leukocytosis, Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Splenomegaly... ORPHA:39041
Congenital Erythropoietic Porphyria
Erythroid hyperplasia, Leukopenia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, T... ORPHA:79277
Caspase 8 Deficiency
Lymphadenopathy, Decreased CD4:CD8 ratio, Splenomegaly OMIM:607271
Warburg Micro Syndrome 4
Microphthalmia OMIM:615663
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Pancreatic cysts, Hepatic cysts, Splenomegaly, Portal hypertension, Periportal fibr... OMIM:263200
Oculocerebrocutaneous Syndrome
Anophthalmia, Microphthalmia OMIM:164180
Autoimmune Hemolytic Anemia, Warm Type
Jaundice, Chronic lymphatic leukemia, Autoimmune hemolytic anemia, Splenomegaly ORPHA:90033
Isolated Biliary Atresia
Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Atretic gallbladder, Bile duct proli... ORPHA:30391
Gaucher Disease Type 1
Hepatomegaly, Ascites, Leukopenia, Biliary tract obstruction, Anemia, Splenomegaly, Cirrhosis, Hy... ORPHA:77259
Autoinflammation With Infantile Enterocolitis
Anemia, Splenomegaly, Reduced natural killer cell count, Pancytopenia, Thrombocytopenia OMIM:616050
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Splenomegaly OMIM:201100
Cat-Eye Syndrome
Microphthalmia ORPHA:195
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Ascites, Anemia, Decreased osteoclast count, Splenomegaly, Extramedullary hematopoi... OMIM:259720
Neuraminidase Deficiency
Hepatomegaly, Ascites, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomegaly, Splenomegaly OMIM:256550
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Lymphadenopathy, Splenomegaly, Thrombocytopenia, Hemolytic anemia ORPHA:169090
S├ęzary Syndrome
Lymphadenopathy, Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly ORPHA:3162
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Cholestasis, Hepatic failure OMIM:615630
Acute Panmyelosis With Myelofibrosis
Acute myelomonocytic leukemia, Bone marrow hypocellularity, Splenomegaly, Acute myeloid leukemia,... ORPHA:86843
Immunodeficiency, Common Variable, 7
Splenomegaly OMIM:614699
Immunodeficiency 47
Hepatomegaly, Normocytic anemia, Hepatic fibrosis, Leukopenia, Thrombocytopenia, Elevated hepatic... OMIM:300972
Pseudo-Torch Syndrome 1
Hepatomegaly, Splenomegaly, Decreased liver function, Elevated hepatic transaminase, Thrombocytop... OMIM:251290
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Autoimmune Hepatitis
Hepatocellular carcinoma, Ascites, Fulminant hepatitis, Acute hepatitis, Splenomegaly, Diffuse he... ORPHA:2137
Pierpont Syndrome
Microphthalmia ORPHA:487825
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Hepatic fibrosis, Portal fibrosis, Hepatocellular carcinoma, Hepatocellular adenoma... ORPHA:370
Immunodeficiency 36
Chronic lymphatic leukemia, Lymphopenia, Splenomegaly OMIM:616005
Cryoglobulinemic Vasculitis
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Abnormality of the liver, Viral hepatitis ORPHA:91138
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Essential Thrombocythemia
Abnormal platelet morphology, Acute leukemia, Splenomegaly ORPHA:3318
Anterior Segment Dysgenesis 5
Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris OMIM:604229
Felty Syndrome
Hepatomegaly, Neutropenia, Lymphadenopathy, Abnormal lymphocyte morphology, Bone marrow hypocellu... ORPHA:47612
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Prolidase Deficiency
Hepatomegaly, Anemia, Splenomegaly, Elevated circulating aspartate aminotransferase concentration... OMIM:170100
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia OMIM:214150
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Cholestatic liver disease, Decr... ORPHA:540
Cinca Syndrome
Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Abnormal granulocyte morphology, Splenomegal... ORPHA:1451
Pierpont Syndrome
Microphthalmia OMIM:602342
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the thymus, Anemia, Erythroid h... OMIM:612541
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Lymphopenia, Elevated hepatic transaminase, ... OMIM:617591
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Warburg Micro Syndrome 1
Microphthalmia OMIM:600118
Tangier Disease
Left ventricular hypertrophy, Hepatomegaly, Splenomegaly OMIM:205400
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Poikiloderma With Neutropenia
Neutropenia, Splenomegaly OMIM:604173
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Splenomegaly OMIM:252900
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Hepatic fibrosis, Portal fibrosis, Hepatocellular adenoma, Anemia, Splenomegaly, Ci... ORPHA:264580
Systemic Mastocytosis With Associated Hematologic Neoplasm
Leukocytosis, Hepatomegaly, Chronic lymphatic leukemia, Normocytic anemia, Lymphadenopathy, Normo... ORPHA:98849
Anterior Segment Dysgenesis 2
Anterior segment of eye aplasia, Congenital aphakia, Microphthalmia, Aniridia OMIM:610256
Niemann-Pick Disease, Type C1
Fetal ascites, Hepatomegaly, Bone-marrow foam cells, Fatal liver failure in infancy, Splenomegaly... OMIM:257220
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia OMIM:601794
Chediak-Higashi Syndrome
Hepatomegaly, Neutropenia, Leukopenia, Lymphadenopathy, Abnormal dense granules, Giant neutrophil... OMIM:214500
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly OMIM:618394
Chronic Granulomatous Disease
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Abnormality of neutrophils, Liver abscess ORPHA:379
Gray Platelet Syndrome
Thrombocytopenia, Abnormal number of alpha granules, Splenomegaly OMIM:139090
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:252920
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia ORPHA:48431
Norrie Disease
Microphthalmia, Hypoplasia of the iris OMIM:310600
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Macrocytic anemia, Splenomegaly OMIM:619046
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Splenomegaly ORPHA:33577
Cronkhite-Canada Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:2930
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Leukopenia, Elevated hepatic transaminase, Lymphadenopathy, Anemia, Splenomegaly, H... OMIM:603553
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Aniridia, Hypoplastic iris stroma, Macular hypoplasia, Bilateral microph... ORPHA:2334
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Microphthalmia OMIM:615181
Congenital Toxoplasmosis
Microphthalmia ORPHA:858
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Temtamy Syndrome
Microphthalmia ORPHA:1777
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Hepatomegaly, Reduced red cell adenosine deaminase level, Splenomegaly, Aplasi... OMIM:102700
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Warburg Micro Syndrome 3
Microphthalmia OMIM:614222
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly OMIM:612387
Joubert Syndrome 22
Microphthalmia OMIM:615665
Common Variable Immunodeficiency
Lymphadenopathy, Splenomegaly, Abnormality of the liver, Autoimmune thrombocytopenia, Lymphopenia... ORPHA:1572
Typhoid
Hepatomegaly, Splenomegaly ORPHA:99745
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia OMIM:612530
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia ORPHA:93267
Coach Syndrome 1
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Cirrhosis, Intrahepatic bile duct dilatation, Eleva... OMIM:216360
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly OMIM:617388
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Neutropenia, Elevated hepatic transaminase, Anemia, Splenomegaly, Abnormal T cell s... ORPHA:158048
Adams-Oliver Syndrome 2
Microphthalmia OMIM:614219
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Granulomato... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Granulomato... OMIM:233710
Free Sialic Acid Storage Disease
Hepatomegaly, Ascites, Splenomegaly ORPHA:834
American Trypanosomiasis
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:3386
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytos... OMIM:267700
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Pancreatic hypoplasia, Hepatic fibrosis, Pancreatic cysts, Splenic cyst, Hepatitis,... OMIM:610199
Kaposiform Lymphangiomatosis
Pancreatic cysts, Abnormal lymphatic vessel morphology, Lymphangioma, Abnormality of the lymphati... ORPHA:464329
Hurler-Scheie Syndrome
Hepatomegaly, Splenomegaly OMIM:607015
Spondyloepimetaphyseal Dysplasia, Shohat Type
Hepatomegaly, Splenomegaly OMIM:602557
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia OMIM:613153
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Anemia, Splenomegaly, Pancytopenia, Thrombocytopenia OMIM:259700
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Hepatocellular adenoma, Anemia, Splenom... ORPHA:79240
Muckle-Wells Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:575
Majeed Syndrome
Leukocytosis, Hepatomegaly, Hypochromic microcytic anemia, Congenital hypoplastic anemia, Splenom... ORPHA:77297
Hyperlipoproteinemia, Type I
Jaundice, Hepatosplenomegaly, Pancreatitis, Splenomegaly OMIM:238600
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Granulomato... OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Granulomato... OMIM:233690
Scheie Syndrome
Hepatomegaly, Splenomegaly ORPHA:93474
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Microvesicular hepatic steatosis, Hepatomegaly, Macronodular cirrhosis, Lymphadenopathy, Anemia, ... OMIM:619418
Primary Lipodystrophy
Cirrhosis, Hepatic steatosis, Pancreatitis, Splenomegaly ORPHA:90970
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Niemann-Pick Disease, Type C2
Fetal ascites, Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Prolonged neonatal jaundice, S... OMIM:607625
Skin Creases, Congenital Symmetric Circumferential, 2
Microphthalmia OMIM:616734
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Gaucher Disease, Type Iiic
Pancytopenia, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:231005
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microphthalmia OMIM:614833
Symptomatic Form Of Hemochromatosis Type 1
Hepatomegaly, Cholangiocarcinoma, Hepatocellular carcinoma, Cardiomegaly, Splenomegaly, Cirrhosis... ORPHA:465508
Juvenile Idiopathic Arthritis
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly ORPHA:92
X-Linked Lymphoproliferative Disease
Lymphadenopathy, Splenomegaly, Absent natural killer cells, Hepatosplenomegaly, Lymphocytosis, Pa... ORPHA:2442
Seckel Syndrome 2
Microphthalmia OMIM:606744
Frontonasal Dysplasia 1
Microphthalmia OMIM:136760
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:85194
Meckel Syndrome, Type 2
Meningocele, Microphthalmia OMIM:603194
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia ORPHA:2788
Primary Sclerosing Cholangitis
Hepatomegaly, Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatic fibrosis, Hepatocellular c... ORPHA:171
Purine Nucleoside Phosphorylase Deficiency
Lymph node hypoplasia, Neutropenia in presence of anti-neutropil antibodies, Pure red cell aplasi... OMIM:613179
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Bilateral microphthalmos, Cervical spina bifida OMIM:600122
Familial Partial Lipodystrophy, Dunnigan Type
Hepatic steatosis, Hepatomegaly, Pancreatitis, Splenomegaly ORPHA:2348
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis, Sideroblastic anemia, Splenomegaly OMIM:616084
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Ring Chromosome 10 Syndrome
Microphthalmia ORPHA:1438
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Pancreatitis, Splenomegaly, Cirrhosis, Hepatic steatosis ORPHA:79083
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lens coloboma, Microphthalmia, Umbilical hernia OMIM:618914
Meckel Syndrome, Type 5
Microphthalmia OMIM:611561
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Trisomy 13
Anophthalmia, Microphthalmia, Aplasia/Hypoplasia of the iris ORPHA:3378
Adams-Oliver Syndrome 5
Right ventricular hypertrophy, Hypersplenism, Splenomegaly OMIM:616028
Bresek Syndrome
Optic nerve hypoplasia, Microphthalmia ORPHA:85284
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Splenomegaly OMIM:252930
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Pelvis-Shoulder Dysplasia
Spina bifida occulta, Microphthalmia OMIM:169550
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Nasopalpebral Lipoma-Coloboma Syndrome
Bilateral microphthalmos, Microphthalmia ORPHA:2399
Q Fever
Hepatomegaly, Lymphadenopathy, Hepatitis, Anemia, Splenomegaly, Abnormality of the liver, Hepatos... ORPHA:781
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia ORPHA:3191
Hereditary Orotic Aciduria
Anemia, Splenomegaly ORPHA:30
Reynolds Syndrome
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Biliary cirrhosis, Jaundice OMIM:613471
Tyrosinemia, Type I
Hepatomegaly, Hepatocellular carcinoma, Ascites, Splenomegaly, Cirrhosis, Pancreatic islet-cell h... OMIM:276700
Legionnaires Disease
Lymphadenopathy, Hepatitis, Bone marrow hypocellularity, Pancreatitis, Splenomegaly, Lymphopenia,... ORPHA:549
Autosomal Recessive Polycystic Kidney Disease
Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Hepatic fibrosis, Pan... ORPHA:731
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Ly... OMIM:614700
Joubert Syndrome With Hepatic Defect
Hepatomegaly, Intrahepatic biliary atresia, Congenital hepatic fibrosis, Neoplasm of the liver, S... ORPHA:1454
Hermansky-Pudlak Syndrome 2
Hepatomegaly, Neutropenia, Enlarged platelet dense granules, Absent platelet dense granules, Sple... OMIM:608233
Hyperparathyroidism, Neonatal Severe
Hepatomegaly, Anemia, Splenomegaly OMIM:239200
Mixed Connective Tissue Disease
Hepatomegaly, Mediastinal lymphadenopathy, Leukopenia, Lymphadenopathy, Splenomegaly, Hemolytic a... ORPHA:809
Microphthalmia, Syndromic 5
Anophthalmia, Optic nerve hypoplasia, Microphthalmia OMIM:610125
Hermansky-Pudlak Syndrome 10
Hepatomegaly, Neutropenia, Splenomegaly OMIM:617050
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hepatomegaly, Polycythemia, Micronodular cirrhosis, Splenomegaly, Abnormality of the liver, Eleva... ORPHA:309854
Mastocytosis
Hepatomegaly, Acute leukemia, Chronic leukemia, Splenomegaly, Mastocytosis ORPHA:98292
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Abnormally large globe, Microphthalmia OMIM:615249
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Ascites, Cardiomegaly, Anemia, Splenomegaly, Hepatosplenomegaly, Hepatic failure, T... OMIM:608013
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Microphthalmia OMIM:615877
Rodrigues Blindness
Microphthalmia OMIM:268320
Neurooculocardiogenitourinary Syndrome
Microphthalmia OMIM:618652
Solitary Median Maxillary Central Incisor
Anophthalmia, Microphthalmia OMIM:147250
Monosomy 18P
Microphthalmia ORPHA:1598
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Microphthalmia OMIM:152950
Joubert Syndrome 14
Microphthalmia OMIM:614424
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Glycogen Storage Disease Ii
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:232300
Familial Tumoral Calcinosis
Hepatomegaly, Splenomegaly ORPHA:53715
Joubert Syndrome 37
Microphthalmia OMIM:619185
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukocytosis, Hepatomegaly, Thrombocytosis, Leukopenia, Elevated hepatic transaminase, Lymphadeno... OMIM:615688
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Hepatomegaly, Neutrophilia, Splenomegaly OMIM:612852
Microphthalmia With Limb Anomalies
Anophthalmia, Microphthalmia OMIM:206920
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... ORPHA:3261
Polycythemia Vera
Hepatomegaly, Portal hypertension, Acute leukemia, Splenomegaly ORPHA:729