Not currently registered for phenotyping at IMPC

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

Gene Summary

cyclin E1
CycE1,  cyclin E

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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 Ccne1 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 Ccne1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Thrombocytopenia, Anemia, And Myelofibrosis
Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia, Myelofibrosis OMIM:617441
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Diamond-Blackfan Anemia 19
Anemia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618312
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Hep... OMIM:615285
Transient Erythroblastopenia Of Childhood
Anemia, Transient erythroblastopenia OMIM:227050
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... ORPHA:846
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Hepatomegaly, Anemia, Abnormal bone structure ORPHA:46532
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... OMIM:615631
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:766
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hepatosplenomegaly, Adrenal insufficiency, Reticulocytopenia, Dysplastic erythropoesis, Hypothyro... ORPHA:300298
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,... ORPHA:231214
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis OMIM:603529
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro... ORPHA:35858
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Cryptorchidism, Anemia of inadequate production, Anisocytosis, Poikilocytosis... ORPHA:67044
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Reticuloendotheliosis, X-Linked
Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... OMIM:603902
Anemia, Hypochromic Microcytic, With Iron Overload 2
Sideroblastic anemia, Splenomegaly, Hepatomegaly, Hypochromia, Poikilocytosis, Anemia, Elevated h... OMIM:615234
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Anemia ORPHA:2802
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
3-Methylglutaconic Aciduria, Type Viia
Anemia, Neutropenia, Anisopoikilocytosis OMIM:619835
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate... OMIM:224120
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion OMIM:183350
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... OMIM:133180
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Ulcerative colitis OMIM:619398
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Congenital Atransferrinemia
Anemia, Hypothyroidism, Abnormality of the pancreas ORPHA:1195
Ghosal Hematodiaphyseal Dysplasia
Anemia, Craniofacial hyperostosis, Abnormal cortical bone morphology, Splenomegaly ORPHA:1802
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:185020
Developmental And Epileptic Encephalopathy 50
Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Anemia, Dysphagia OMIM:616457
Spherocytosis, Type 2
Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:616649
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Ghosal Hematodiaphyseal Dysplasia
Bone marrow hypocellularity, Hyperostosis cranialis interna, Leukopenia, Thrombocytopenia, Myelof... OMIM:231095
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... OMIM:237800
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... ORPHA:824
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Alpha-Heavy Chain Disease
Alopecia, Ascites, Abnormal small intestine morphology, Splenomegaly, Hepatomegaly, Lymphadenopat... ORPHA:100025
Anemia, Splenomegaly, Neutropenia OMIM:602079
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis OMIM:206200
Spherocytosis, Type 4
Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:612653
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog... ORPHA:3202
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia OMIM:205950
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:182900
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... ORPHA:444463
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... OMIM:612840
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia, Osteoporosis, Osteolysis ORPHA:100024
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myelofibrosis, Myelop... OMIM:254450
Rothmund-Thomson Syndrome, Type 3
Osteopenia, Sparse eyebrow, Anisopoikilocytosis, Anemia, Sparse scalp hair OMIM:615789
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia OMIM:608898
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Splenomegaly, Lymphadenopathy ORPHA:52416
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Bone marrow hypocellularity, Elliptocytosis, Macrocytic anemia,... OMIM:300835
Elliptocytosis 1
Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis OMIM:611804
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia, Decreased skull ossification ORPHA:3319
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Sple... OMIM:301078
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Immunodeficiency 69
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... OMIM:618963
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly, Decreased circulating total IgM OMIM:606445
Hereditary Elliptocytosis
Cholelithiasis, Stomatocytosis, Abnormal erythrocyte morphology, Congenital hemolytic anemia, Ret... ORPHA:288
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hepatomegaly, P... OMIM:185000
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Osteopenia, Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Cal... OMIM:612714
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Acanthocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Poikilocytosis OMIM:300367
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618852
Osteopetrosis, Autosomal Dominant 3
Hyperparathyroidism, Osteopenia, Splenomegaly, Hepatomegaly, Anemia OMIM:618107
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ... OMIM:301083
Tafro Syndrome
Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocy... ORPHA:457077
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly OMIM:273680
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia OMIM:610539
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Congenital Dyserythropoietic Anemia Type Iii
Melena, Increased mean corpuscular volume, Abnormal erythrocyte morphology, Anisocytosis, Poikilo... ORPHA:98870
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice OMIM:224100
Anemia ORPHA:655
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Neutropenia, Ane... OMIM:603552
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Chromosome 5Q Deletion Syndrome
Erythroid hypoplasia, Refractory macrocytic anemia, Anemia of inadequate production OMIM:153550
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Follicular hyperplasia, Hepatomegaly, Lymphocytosis, Neutropenia, Mon... OMIM:614470
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia OMIM:611283
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... OMIM:616452
Hepatic fibrosis, Intrahepatic cholestasis, Anisopoikilocytosis, Osteoporosis, Bilobate gallbladder OMIM:607330
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg... OMIM:603903
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Splenomegaly, Cirrhosis, Thrombocytopenia, Absent axillary hair OMIM:269600
Elliptocytosis 3
Intermittent jaundice, Pyropoikilocytosis, Elliptocytosis, Decreased mean corpuscular volume, Chr... OMIM:617948
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia, Co... OMIM:613101
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells OMIM:607616
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... OMIM:619375
Intrahepatic cholestasis, Abnormal platelet morphology, Thrombocytopenia, Anisopoikilocytosis, He... ORPHA:46059
Immunodeficiency 104
Gastroesophageal reflux, Splenomegaly, Lymphadenopathy, Hepatomegaly, T lymphocytopenia OMIM:608971
Pyropoikilocytosis, Hereditary
Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis, Elliptocytosis OMIM:266140
Hereditary Spherocytosis
Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration... ORPHA:822
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Hepatomegaly, Cirrhosis, H... OMIM:616860
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Hepatomegaly, Anemia, Jaundice OMIM:613977
Eosinophilia, Familial
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia OMIM:131400
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Megaloblastic Anemia, Folate-Responsive
Folate-responsive megaloblastic anemia, Episodic hemolytic anemia, Schistocytosis, Hypersegmentat... OMIM:601775
Wolman Disease
Ascites, Adrenal insufficiency, Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells, Esoph... ORPHA:75233
Rh Deficiency Syndrome
Stomatocytosis, Hepatosplenomegaly, Reticulocytosis, Macrocytic anemia, Anisocytosis, Spherocytos... ORPHA:71275
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor... OMIM:617514
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Hepatomegaly, Osteopetrosis, Thrombocytopenia, Anemia OMIM:615085
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Acute Panmyelosis With Myelofibrosis
Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye... ORPHA:86843
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl... ORPHA:2585
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration
Acanthocytosis, Dysphagia OMIM:607236
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis OMIM:166910
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy, Osteolysis ORPHA:158014
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Tyrosinemia Type 1
Hepatomegaly, Rickets of the lower limbs, Splenomegaly, Hepatocellular carcinoma ORPHA:882
Fat malabsorption, Acanthocytosis OMIM:200100
Immunodeficiency 76
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Colitis, T lymphocytopenia OMIM:619164
Retinitis Pigmentosa And Erythrocytic Microcytosis
Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thrombocytopenia, ... OMIM:616959
Acute Erythroid Leukemia
Bone marrow hypocellularity, Pancytopenia, Leukopenia, Erythroid hypoplasia, Anemia ORPHA:318
Bone Marrow Failure Syndrome 6
Bone marrow hypocellularity, Osteopenia, Increased mean corpuscular volume, Persistence of hemogl... OMIM:618849
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia, Increased bone mineral density ORPHA:37748
Bone Marrow Failure Syndrome 2
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia OMIM:615715
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Cholelithiasis, Splenomegaly, Reticulocytosis, Cholecystitis, Nonspherocytic h... OMIM:235700
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Rh-Null, Amorph Type
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis OMIM:617970
Castleman Disease
Myelofibrosis, Mediastinal lymphadenopathy, Follicular hyperplasia, Intestinal obstruction, Abnor... ORPHA:160
Orotic Aciduria
Folate-unresponsive megaloblastic anemia, Anisocytosis, Hypochromia, Poikilocytosis, Pyrimidine-r... OMIM:258900
Cholelithiasis, Hepatitis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Th... ORPHA:848
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce... OMIM:187950
Sitosterolemia 1
Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb... OMIM:210250
Beta-Thalassemia Intermedia
Cholelithiasis, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Er... ORPHA:231222
Gray Platelet Syndrome
Myelofibrosis, Splenomegaly, Abnormal number of alpha granules, Thrombocytopenia OMIM:139090
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Reticulocytosis, Hepatomegaly, Osteopetrosis, Thrombocytopenia, Anemia, Increased b... OMIM:611490
Polycythemia Vera
Gastrointestinal hemorrhage, Increased hematocrit, Leukocytosis, Splenomegaly, Increased red bloo... OMIM:263300
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Hyperhidrosis, Splenomegaly, Lymphadenopathy ORPHA:86893
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Refractory Anemia
Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi... ORPHA:98826
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Cryptorchi... OMIM:301310
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, D... OMIM:615513
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke... OMIM:619041
Diamond-Blackfan Anemia 16
Anemia OMIM:617408
Aicardi-Goutieres Syndrome 6
Hepatomegaly, Hemolytic anemia, Splenomegaly, Thrombocytopenia OMIM:615010
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Fibrodysplasia Ossificans Progressiva
Anemia, Ectopic ossification in ligament tissue, Alopecia, Ectopic ossification in muscle tissue ORPHA:337
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o... OMIM:619220
Hemochromatosis, Type 2B
Hepatic fibrosis, Splenomegaly, Hepatomegaly, Cirrhosis, Anemia OMIM:613313
Diamond-Blackfan Anemia 9
Anemia OMIM:613308
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612126
Familial Pseudohyperkalemia
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia ORPHA:90044
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia, Hydrocele... OMIM:616738
Acute Myelomonocytic Leukemia
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia ORPHA:517
Rh-Null, Regulator Type
Jaundice, Stomatocytosis, Hemolytic anemia OMIM:268150
Elliptocytosis 2
Hemolytic anemia, Reticulocytosis, Elliptocytosis OMIM:130600
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegaly, Neoplasm... ORPHA:100026
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Increased mean platelet volume OMIM:153670
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis, Anemia, Enlarged... OMIM:209950
Fanconi Anemia, Complementation Group G
Leukemia, Anemia, Neutropenia, Thrombocytopenia OMIM:614082
Leukopenia, Splenomegaly, Hyperhidrosis, Thrombocytopenia, Hepatomegaly, Jaundice, Hemolytic anemia ORPHA:108
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Bone marrow hypocellularity, Osteopenia, Gastroesophageal reflux, Aplastic anemia, Premature gray... OMIM:614742
Increased fecal harderoporphyrin, Splenomegaly, Reticulocytosis, Hepatomegaly, Prolonged neonatal... OMIM:618892
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hemophagocytosis, Pancytopenia, Splenomegaly, Anemia, Panniculitis OMIM:618398
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Recurrent tonsillitis, Granuloma, Lymphadenitis, Anal fissure, Lymphopenia, H... OMIM:618935
Fetal Parvovirus Syndrome
Anemia, Ascites, Thrombocytopenia ORPHA:295
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Lymphopenia, Leukopenia, Long eyelashes, Recurrent infection of the gastrointestinal tract, Neutr... OMIM:301110
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Neonatal cholestatic liver disease, Splenomegaly, Biliary tract abno... ORPHA:79301
Bleeding Disorder, Platelet-Type, 17
Myelofibrosis, Gastrointestinal hemorrhage, Increased RBC distribution width, Absence of alpha gr... OMIM:187900
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly, Anhidrosis OMIM:614979
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Increased mean corpuscular volume, Extramedullary hematopoiesis, Ascites, Sideroblastic anemia, E... OMIM:617021
Cronkhite-Canada Syndrome
Alopecia, Gastrointestinal carcinoma, Dystrophic toenail, Sparse body hair, Furrowed tongue, Stom... ORPHA:2930
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Aplastic anemia, Hemophagocytosis, Hepatitis, Pancytopenia, ... OMIM:300635
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia ORPHA:721
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, S... OMIM:266200
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Brittle hair, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemi... OMIM:616084
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia, Thrombocytopenia OMIM:616176
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Anemia, Hyperparathyroidism, Bone cyst ORPHA:2668
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatocellular necrosis, Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Aniso... OMIM:618278
Anemia, Hypochromic Microcytic, With Iron Overload 1
Erythroid hyperplasia, Elevated hepatic iron concentration, Hypochromia, Anemia, Decreased mean c... OMIM:206100
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Follicular hype... OMIM:601859
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix OMIM:617068
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Gastrointestinal hemorrhage, Periportal fibrosis, Abno... ORPHA:64743
Hydrops Fetalis, Nonimmune
Anemia OMIM:236750
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly ORPHA:2204
Immunodeficiency 48
Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, ... OMIM:269840
Osteopetrosis, Autosomal Recessive 2
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia, Anemia OMIM:259710
Indolent Systemic Mastocytosis
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega... ORPHA:98848
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia ORPHA:3204
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Splenomegaly, Hepatomegaly, Jaundice, Reduced bone mineral density ORPHA:172
Chylomicron Retention Disease
Acanthocytosis, Hepatic steatosis, Steatorrhea, Fat malabsorption, Increased hepatocellular lipid... ORPHA:71
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:66661
Chronic Intestinal Pseudoobstruction
Intestinal malrotation, Abnormal platelet morphology, Abnormal intestine morphology, Pyloric sten... ORPHA:2978
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Acute colitis, Leukocytosis, Reticulocytosis, Peritonitis, Pan... ORPHA:90038
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Fetal ascites, Splenomegaly OMIM:619462
Dominant Beta-Thalassemia
Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F... ORPHA:231226
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No... OMIM:613470
Polycythemia Vera
Acute leukemia, Gastrointestinal hemorrhage, Polycythemia, Leukocytosis, Splenomegaly, Portal hyp... ORPHA:729
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Portal fibrosis, Portal hypertension, Splenomegaly, Iron deficiency anemia, Hep... OMIM:616278
Dermotrichic Syndrome
Anemia, Aganglionic megacolon, Hypohidrosis, Nail dystrophy ORPHA:99688
Immunodeficiency 32B
Impaired oxidative burst, Splenomegaly, Hepatomegaly, Eosinophilia, Monocytopenia, Thrombocytopen... OMIM:226990
Immunodeficiency 7
Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Patchy alopecia, Lymphadenopathy, N... OMIM:615387
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Pancytopenia, Villous atrophy, Splenomegaly, Enterocolitis, Th... OMIM:616050
Mcleod Syndrome
Hepatomegaly, Acanthocytosis, Splenomegaly OMIM:300842
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a... OMIM:159550
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Ascites, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytos... ORPHA:98850
Thrombocytopenia 6
Osteoporosis, Myelofibrosis, Thrombocytopenia OMIM:616937
Hb Bart'S Hydrops Fetalis
Anemia, Hepatomegaly, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Anemia, Splenomegaly, Ascites ORPHA:1046
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... OMIM:133100
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia ORPHA:79312
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica... OMIM:618534
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Anemia, Macrothrombocytopenia OMIM:187800
Intermediate Osteopetrosis
Cortical sclerosis, Hepatosplenomegaly, Generalized osteosclerosis, Anemia, Abnormality of bone m... ORPHA:210110
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Premature graying o... OMIM:620367
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Hepatitis, Decreased FOXP3-expressing T cell count, Villous atrophy, Ileus, Eosinophili... OMIM:304790
Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Hepatomegaly, Lymphadenop... ORPHA:507
Immunodeficiency 115 With Autoinflammation
Intestinal lymphangiectasia, Splenomegaly, Decreased proportion of memory T cells, Anemia, T lymp... OMIM:620632
Lymphoproliferative Syndrome 1
Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... OMIM:613011
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Increased hepatic echogenicity,... OMIM:278000
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hemophagocytosis, Colon cancer, Hepatosplenomegaly, Pancytopen... ORPHA:158057
Cernunnos-Xlf Deficiency
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia ORPHA:169079
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Monocytosis, Refractory anemia OMIM:616871
Intermediate Generalized Junctional Epidermolysis Bullosa
Anemia, Scarring alopecia of scalp, Nail dystrophy, Sparse body hair ORPHA:79402
Majeed Syndrome
Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Anemia of inadequate production, De... OMIM:609628
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Mediasti... OMIM:619802
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Splenomegaly, Inc... OMIM:194380
Acanthocytosis, Dysphagia OMIM:200150
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Stomatocytosis, Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia OMIM:608885
Infantile Sialic Acid Storage Disease
Osteopenia, Fair hair, Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes,... OMIM:269920
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Hepatic steatosis, Splenomegaly OMIM:614480
Proteus Syndrome
Mandibular hyperostosis, Facial hyperostosis, Splenomegaly, Thin bony cortex, Calvarial hyperosto... OMIM:176920
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, Splenomegaly, Decre... OMIM:300853
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly, Thrombocyt... OMIM:619463
Congenital Erythropoietic Porphyria
Osteopenia, Facial hypertrichosis, Leukopenia, Erythroid hyperplasia, Reticulocytosis, Splenomega... ORPHA:79277
Chromosome 14Q32 Duplication Syndrome, 700-Kb
Chronic myelomonocytic leukemia, Myelofibrosis, Acute myeloid leukemia OMIM:616604
Omenn Syndrome
Alopecia, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatomegaly, Eosinophilia,... ORPHA:39041
Coproporphyria, Hereditary
Increased fecal coproporphyrin 3, Splenomegaly, Increased fecal coproporphyrin III:coproporphyrin... OMIM:121300
Hypobetalipoproteinemia, Familial, 1
Steatorrhea, Acanthocytosis OMIM:615558
Mitochondrial Myopathy And Sideroblastic Anemia
Anemia, Distichiasis, High palate ORPHA:2598
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, ... OMIM:603909
Tufted Angioma
Anemia, Hyperhidrosis, Thrombocytopenia, Hypertrichosis ORPHA:1063
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Anemia, Hepatomegaly, Splenomegaly OMIM:620296
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Splenomegaly, Hyperhidrosis, Lymphadenopathy, Hepatomegaly, Osteolysis ORPHA:391
Activated Pi3K-Delta Syndrome
Recurrent tonsillitis, Splenomegaly, Abnormal intestine morphology, Lymphadenopathy, Intestinal l... ORPHA:397596
Reticular Dysgenesis
Anemia, Leukopenia, Abnormality of neutrophils, Aplasia/Hypoplasia of the thymus ORPHA:33355
Fanconi Anemia, Complementation Group T
Bone marrow hypocellularity, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia OMIM:616435
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Lymphopenia, Leukopenia, Splenomegaly, Hepatomegaly, Reduced bone mineral density, Cleft palate OMIM:620210
Cold Agglutinin Disease
Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy ORPHA:56425
Wolman Disease
Hepatomegaly, Splenomegaly OMIM:620151
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Hypothyroidism, Congenital, Nongoitrous, 6
Congenital hypothyroidism, Increased T3/T4 ratio, Anemia, Macroglossia, Impaired sensitivity to t... OMIM:614450
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Gastric varix, Splenomegaly, Hepatocellular carcinoma OMIM:613490
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly OMIM:618495
Anemia, Sideroblastic, 1
Sideroblastic anemia, Hypochromic microcytic anemia, Anemia of inadequate production, Macrocytic ... OMIM:300751
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B lymphocytopenia, I... OMIM:150550
Ichthyosis, Congenital, Autosomal Recessive 5
Acanthocytosis OMIM:604777
Agammaglobulinemia 8B, Autosomal Recessive
B Acute Lymphoblastic Leukemia, Pancytopenia, Splenomegaly, Increased proportion of effector memo... OMIM:619824
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Absent circulating B cells, Splenomegaly, Generalized lymphadenopathy OMIM:620282
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Transaldolase Deficiency
Anemia, Hepatosplenomegaly, Cirrhosis, Thrombocytopenia ORPHA:101028
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Extramedullary hematopoiesis, Cholestasis, Hepatic steatosis, Prolonged neo... ORPHA:79303
Galactosemia Iii
Hepatomegaly, Jaundice, Splenomegaly OMIM:230350
Immunodeficiency 46
Anemia, Neutropenia, Intermittent thrombocytopenia OMIM:616740
Griscelli Syndrome
Silver-gray hair, Bone marrow hypocellularity, Hepatitis, White hair, Premature graying of hair, ... ORPHA:381
Dohle Bodies And Leukemia
Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies OMIM:223350
Immunodeficiency 42
Hepatomegaly, Hypoplasia of the thymus, Splenomegaly OMIM:616622
Increased circulating cortisol level, Increased circulating prolactin concentration, Acanthocytos... ORPHA:97280
Griscelli Syndrome Type 2
Hemophagocytosis, Premature graying of hair, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutrop... ORPHA:79477
Diamond-Blackfan Anemia 20
Erythroid hypoplasia, Anemia OMIM:618313
Immunodeficiency 102
Nodular regenerative hyperplasia of liver, Reduced natural killer cell count, Increased proportio... OMIM:301082
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Hepatomegaly, Jaundice, Splenomegaly OMIM:620010
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Brain abscess, Abnormal lymph node morphology, Abnormality of the lymphatic system,... ORPHA:54251
Bone Marrow Failure Syndrome 4
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia OMIM:618116
Aicardi-Goutieres Syndrome 4
Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly OMIM:610333
Desmoplastic Small Round Cell Tumor
Ascites, Ileus, Hepatomegaly, Lymphadenopathy, Testicular neoplasm, Abnormal peritoneum morpholog... ORPHA:83469
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Inflammation of the large intestine, Lymphocytic infiltration of the colorect... ORPHA:436159
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Neonatal cholestatic liver diseas... ORPHA:1414
Vitamin B12-Responsive Methylmalonic Acidemia
Anemia, Hepatomegaly ORPHA:28
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Reticulocytosis, Schistocytosis, Thrombocytopenia, Prolonged n... OMIM:274150
Isolated Agammaglobulinemia
Abnormal lymphocyte morphology, Abnormality of the lymphatic system, Abnormality of the tonsils, ... ORPHA:229717
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Amegakaryocytic Thrombocytopenia, Congenital, 2
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:620481
Gaucher Disease Type 2
Hepatomegaly, Dysphagia, Splenomegaly ORPHA:77260
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:158029
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Gastrointestinal hemorrhage, Gastrointestinal carcinoma, Pancreatic adeno... ORPHA:2869
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Microcytic anemia, Ascites, Splenomegaly, Hepatomegaly, Lymphadenopathy, ... OMIM:257200
Formiminoglutamic Aciduria
Anemia, Megaloblastic anemia ORPHA:51208
8P11.2 Deletion Syndrome
Splenomegaly, Cryptorchidism, Spherocytosis, High palate, Hemolytic anemia ORPHA:251066
Ollier Disease
Anemia, Lymphangioma, Osteolysis ORPHA:296
Splenoportal Vascular Anomalies
Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system OMIM:271500
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Cholelithiasis, Rickets, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episo... OMIM:211600
Classic Mycosis Fungoides
Alopecia, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy, Hepatomegaly ORPHA:2584
Immunodeficiency 54
Reduced natural killer cell count, Adrenal insufficiency, Splenomegaly, Adrenocorticotropic hormo... OMIM:609981
Osteopetrosis, Autosomal Recessive 9
Hyperparathyroidism, Cortical sclerosis, Osteopetrosis, Anemia, Increased bone mineral density OMIM:620366
Immune Dysregulation, Autoimmunity, And Autoinflammation
Anemia, Inguinal lymphadenopathy, Cervical lymphadenopathy OMIM:620514
Cinca Syndrome
Hepatosplenomegaly, Leukocytosis, Eosinophilia, Lymphadenopathy, Anemia OMIM:607115
Cholesteryl Ester Storage Disease
Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice, Esophageal varix ORPHA:75234
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Lymphopenia, Lymphocytic infiltration of the colorectal mucosa, Autoimmune he... OMIM:616100
Eosinophilic Gastroenteritis
Protein-losing enteropathy, Hematochezia, Ascites, Leukocytosis, Eosinophilia, Abnormality of the... ORPHA:2070
Osteopetrosis, Autosomal Recessive 3
Anemia, Hepatosplenomegaly, Extramedullary hematopoiesis OMIM:259730
Solitary Rectal Ulcer Syndrome
Hematochezia, Stercoral ulcer, Anal fissure, Anemia, Rectal prolapse ORPHA:209964
Omenn Syndrome
Alopecia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Lymphadenop... OMIM:603554
Lymphoproliferative Syndrome, X-Linked, 1
Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp... OMIM:308240
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Central hypothyroidism, Acute monocytic leukemia, Cervical lymphadenopathy, L... ORPHA:514
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Pancytopenia, Splenomegaly, Crohn's disease, Colitis, Dec... OMIM:618394
Cholestasis, Progressive Familial Intrahepatic, 10
Portal fibrosis, Splenomegaly, Acholic stools, Hepatomegaly, Jaundice OMIM:619868
Vitamin B12-Unresponsive Methylmalonic Acidemia
Leukopenia, Macrocytic anemia, Hepatomegaly, Pancreatitis, Thrombocytopenia, Anemia ORPHA:27
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Ascites, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomega... OMIM:259720
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia ORPHA:289916
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Anemia, Intestinal atresia, Duodenal atresia ORPHA:3405
Essential Thrombocythemia
Acute leukemia, Leukocytosis, Splenomegaly, Abnormal platelet morphology, Thrombocytosis ORPHA:3318
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Anemia OMIM:614514
Immunodeficiency 114, Folate-Responsive
Lymphopenia, Splenomegaly, Megaloblastic anemia, Thrombocytopenia, Hepatomegaly OMIM:620603
Lymphoproliferative Syndrome 2
Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymph... OMIM:615122
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Intestinal lymphangiectasia, Ascites, Intestinal obstruction, Abnormal intestine morphology, Hepa... OMIM:226300
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Peptic ulcer, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chr... ORPHA:98849
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Anemia ORPHA:371
Idiopathic Hypereosinophilic Syndrome
Myelofibrosis, Portal fibrosis, Cervical lymphadenopathy, Hepatosplenomegaly, Thrombocytosis, Leu... ORPHA:3260
Cinca Syndrome
Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia, Abnormality of neutrophils, Ab... ORPHA:1451
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Panniculitis OMIM:619183
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia OMIM:231000
Diffuse Neonatal Hemangiomatosis
Anemia, Hepatomegaly, Ascites, Thrombocytopenia ORPHA:2123
Follicular Lymphoma
Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy ORPHA:545
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Schistocytosis, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia OMIM:235400
Mitochondrial Complex I Deficiency, Nuclear Type 39
Anemia, Cardiomegaly, Cryptorchidism OMIM:620135
Infantile Liver Failure Syndrome 1
Anemia, Hepatomegaly, Hepatic steatosis, Macrocytic anemia OMIM:615438
Hereditary Cryohydrocytosis With Reduced Stomatin
Spontaneous hemolytic crises, Hepatosplenomegaly, Stomatocytosis, Jaundice ORPHA:168577
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Osteopenia, Premature graying of hair, Lymphopenia, Portal hypertension, Cryptorchidism, Nail dys... OMIM:620365
Immunodeficiency, Common Variable, 1
Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Lymph... OMIM:607594
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Sparse eyebrow, Sparse body hair, Cholestasis, Portal hypertension, Splenomegaly, Sparse eyelashe... ORPHA:59303
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Splenomegaly, Jaundice OMIM:619658
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Farber Lipogranulomatosis
Osteolysis involving bones of the feet, Splenomegaly, Lipogranulomatosis, Osteolytic defects of t... OMIM:228000
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Amed Syndrome, Digenic
Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia OMIM:619151
Fetal Cytomegalovirus Syndrome
Hepatitis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Jaundice ORPHA:294
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Hematochezia, Duodenal polyposis, Multiple gastric polyps, Small intestinal polyposis, Adenomatou... ORPHA:329971
Ornithine Transcarbamylase Deficiency
Splenomegaly, Pyloric stenosis ORPHA:664
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Giant cell hepatitis, Rickets, Splenomegaly, Hepatomegaly, Cirrhosis, A... OMIM:607765
Pancreatic Colipase Deficiency
Cholelithiasis, Exocrine pancreatic insufficiency, Megaloblastic anemia, Steatorrhea, Fat malabso... ORPHA:309108
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Splenomegaly, Lymphadenopathy OMIM:611762
Hemochromatosis, Type 3
Anemia, Lymphopenia, Cirrhosis, Neutropenia OMIM:604250
Combined Immunodeficiency Due To Crac Channel Dysfunction
Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anhidrosis, Hepatomegaly, Hemolytic anemia ORPHA:169090
Fanconi Anemia, Complementation Group V
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:617243
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo... ORPHA:3226
Gaucher Disease Type 1
Splenic infarction, Osteopenia, Cholelithiasis, Ascites, Hepatosplenomegaly, Pancytopenia, Hypers... ORPHA:77259
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Neoplasm of the colon, Abnormality of the liver, Esophageal neoplasm... ORPHA:44890
Hemochromatosis, Type 4
Anemia, Hepatomegaly, Cirrhosis, Hepatic steatosis OMIM:606069
Prolidase Deficiency
Facial hirsutism, Splenomegaly, Low posterior hairline, Hepatomegaly, Prolonged neonatal jaundice... OMIM:170100
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive
Macrocytic dyserythropoietic anemia, Macrocytic anemia OMIM:619789
Congenital Rubella Syndrome
Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Jaundice ORPHA:290
Hepatic fibrosis, Osteopenia, Acanthocytosis, Reticulocytosis, Hepatic steatosis, Cardiomegaly, H... ORPHA:14
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Decreased circulating cortisol level, Cardiomegaly OMIM:618838
Gastrointestinal hemorrhage, Peptic ulcer, Abnormal cortical bone morphology, Splenomegaly, Hepat... ORPHA:2796
Hydatidiform Mole
Anemia, Hyperthyroidism ORPHA:99927
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic bridging fibrosis, Hepatomegaly, Splenomegaly, Hepatic fibrosis OMIM:616719
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatosplenomegaly, Splenomegaly, Prolonged neonatal jaundice, Cirrhos... OMIM:616828
Senior-Loken Syndrome 4
Anemia OMIM:606996
Cholestasis-Lymphedema Syndrome
Neonatal cholestatic liver disease, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice OMIM:214900
Felty Syndrome
Bone marrow hypocellularity, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly, Lymphade... ORPHA:47612
Maternal Uniparental Disomy Of Chromosome 4
Fat malabsorption, Abnormal erythrocyte morphology, Acanthocytosis ORPHA:96180
Neonatal Lupus Erythematosus
Aplastic anemia, Pancytopenia, Abnormality of the liver, Splenomegaly, Hepatomegaly, Neutropenia,... ORPHA:398124
Lesch-Nyhan Syndrome
Anemia ORPHA:510
Bone Marrow Failure Syndrome 5
Oral leukoplakia, Nail dystrophy, Erythroid hypoplasia, Anemia, Pure red cell aplasia, Testicular... OMIM:618165
Immunodeficiency, Common Variable, 2
Abnormal T cell count, Splenomegaly, Follicular hyperplasia, Lymphadenopathy, Hepatomegaly OMIM:240500
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hirsutism, Hepatomegaly OMIM:612526
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Inflammation of the large intestine, Pancytopenia, Villous atrophy, Splenomeg... OMIM:614700
Immunodeficiency 31C
Protein-losing enteropathy, Osteopenia, Lymphopenia, Villous atrophy, Autoimmune hemolytic anemia... OMIM:614162
Orthostatic Hypotension 2
Anemia OMIM:618182
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Splenomegaly, Hepatomegaly, Osteopetrosis, Thrombocytopenia, Calvarial osteoscleros... OMIM:259700
Fetal Gaucher Disease
Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly, High palate ORPHA:85212
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:42642
Mixed Connective Tissue Disease
Alopecia, Gastroesophageal reflux, Xerostomia, Gastrointestinal hemorrhage, Mediastinal lymphaden... ORPHA:809
Immunodeficiency 10
Splenomegaly, Autoimmune hemolytic anemia, Hypohidrosis, Abnormal lymphocyte count, Lymphadenopat... OMIM:612783
Macrophage Activation Syndrome
Hemophagocytosis, Hepatitis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Neutropenia, Thrombocyt... ORPHA:158061
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Splenomegaly, Macrocytic anemia OMIM:619046
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Fat malab... OMIM:601847
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Splenomegaly, Lymphadenopathy OMIM:607271
Sickle Cell Anemia
Splenic infarction, Cholelithiasis, Hypochromic anemia, Increased mean corpuscular volume, Pigmen... ORPHA:232
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Protein-losing enteropathy, Alopecia, Hematochezia, Xerostomia, Gastrointestinal carcinoma, Nail ... OMIM:175500
Neuraminidase Deficiency
Ascites, Epiphyseal stippling, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, ... OMIM:256550
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Ascites, Gastrointestinal infarctions, Portal hypertension, Splenome... ORPHA:131
Glycogen Storage Disease Xii
Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Low posterior hairline, Decreased... OMIM:611881
Amyloidosis, Hereditary Systemic 2
Cholestasis, Hepatomegaly, Splenomegaly OMIM:105200
Focal Segmental Glomerulosclerosis 1
Anemia, Ascites OMIM:603278
Gaucher Disease, Type I
Pancytopenia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia OMIM:230800
Hurler-Scheie Syndrome
Generalized hirsutism, Hepatomegaly, Abnormality of the tonsils, Splenomegaly ORPHA:93476
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Dyskeratosis Congenita, Autosomal Dominant 3
Bone marrow hypocellularity, Alopecia, Gastrointestinal hemorrhage, Aplastic anemia, Oral leukopl... OMIM:613990
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia ORPHA:90037
Transaldolase Deficiency
Hepatic fibrosis, Micronodular cirrhosis, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Hepatom... OMIM:606003
Oslam Syndrome
Anemia OMIM:165660
Familial Benign Copper Deficiency
Anemia, Early balding ORPHA:1551
Amme Complex
Elliptocytosis OMIM:300194
Copper Deficiency, Familial Benign
Anemia, Early balding, Curly hair OMIM:121270
Letterer-Siwe Disease
Hepatosplenomegaly, Neutropenia, Thrombocytopenia, Anemia, Jaundice OMIM:246400
Congenital Syphilis
Extramedullary hematopoiesis, Hepatosplenomegaly, Prolonged neonatal jaundice, Pancreatitis, Lymp... ORPHA:499009
Osteopetrosis With Renal Tubular Acidosis
Bone marrow hypocellularity, Pancytopenia, Leukopenia, Enlarged tonsils, Hepatomegaly, Osteopetro... ORPHA:2785
Wilson Disease
Hepatitis, Acute hepatitis, Hepatic steatosis, Splenomegaly, Hepatomegaly, Cirrhosis, Thrombocyto... ORPHA:905
Recessive Dystrophic Epidermolysis Bullosa Inversa
Anemia, Gastrointestinal inflammation, Nail dystrophy, Esophageal stricture ORPHA:79409
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Anemia, Panniculitis OMIM:617591
Glycogen Storage Disease Ixb
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content OMIM:261750
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... OMIM:616217
Fanconi Anemia, Complementation Group R
Anemia, Bone marrow hypocellularity, Anal atresia, Radial dysplasia OMIM:617244
Idiopathic Aplastic Anemia
Bone marrow hypocellularity, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia ORPHA:88
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Lymphopenia, Lymph node hypoplasia, Alopeci... OMIM:602450
Hereditary Mixed Polyposis Syndrome
Hematochezia, Colon cancer, Adenomatous colonic polyposis, Duodenal adenocarcinoma, Hyperplastic ... ORPHA:157794
Sézary Syndrome
Alopecia, Abnormal lymphocyte morphology, Nail dystrophy, Splenomegaly, Lymphadenopathy, Hepatome... ORPHA:3162
Majeed Syndrome
Leukocytosis, Splenomegaly, Hypochromic microcytic anemia, Congenital hypoplastic anemia, Hepatom... ORPHA:77297
Cholestasis, Progressive Familial Intrahepatic, 9
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... OMIM:619849
Arthrogryposis Multiplex Congenita 5
Normocytic anemia, Acanthocytosis, Poikilocytosis OMIM:618947
Kasabach-Merritt Phenomenon
Microangiopathic hemolytic anemia, Hypertrichosis, Leukopenia, Reticulocytosis, Abnormal lymphati... ORPHA:2330
Juvenile Polyposis Syndrome
Hematochezia, Intussusception, Duodenal adenocarcinoma, Multiple gastric polyps, Anemia, Neoplasm... OMIM:174900
Chediak-Higashi Syndrome
Silver-gray hair, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Hepatome... OMIM:214500
Mirage Syndrome
Gastroesophageal reflux, Radial club hand, Lymphopenia, Leukopenia, Decreased testicular size, Ad... OMIM:617053
Joubert Syndrome 33
Splenomegaly OMIM:617767
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Leukocytosis, Splenomegaly OMIM:618042
Chronic Granulomatous Disease
Pyloric stenosis, Splenomegaly, Tracheoesophageal fistula, Hepatomegaly, Abnormality of neutrophi... ORPHA:379
Pseudo-Torch Syndrome 3
Lymphadenitis, Leukocytosis, Cardiomegaly, Congenital thrombocytopenia, Anemia OMIM:618886
Congenital Pulmonary Lymphangiectasia
Ascites, Hepatomegaly, Gastroesophageal reflux, Splenomegaly ORPHA:2414
Hemochromatosis, Type 2A
Hepatomegaly, Cirrhosis, Splenomegaly OMIM:602390
Good Syndrome
Thymoma, Mediastinal lymphadenopathy, Aplasia/Hypoplasia of the thymus, Abnormal leukocyte morpho... ORPHA:169105
Hoyeraal-Hreidarsson Syndrome
Bone marrow hypocellularity, Generalized hypopigmentation of hair, Oral leukoplakia, Premature gr... ORPHA:3322
Kaposiform Lymphangiomatosis
Osteolysis, Hepatosplenomegaly, Splenomegaly, Lymphangioma, Abnormality of the lymphatic system, ... ORPHA:464329
Mucopolysaccharidosis, Type Iiib
Coarse hair, Dense calvaria, Splenomegaly, Hirsutism, Cardiomegaly, Hepatomegaly, Synophrys OMIM:252920
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Abnormal hair morphology, Elliptocytosis ORPHA:86818
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Exocrine pancreatic insufficiency, Pancytopenia, Irregular ossificat... OMIM:260400
Dyskeratosis Congenita, Autosomal Dominant 1
Bone marrow hypocellularity, Alopecia, Increased mean corpuscular volume, Aplastic anemia, Oral l... OMIM:127550
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Ascites, Splenomegaly, Cirrhosis,... OMIM:602347
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Lymphadenopath... ORPHA:540
Sandifer Syndrome
Gastroesophageal reflux, Esophagitis, Hiatus hernia, Hematemesis, Anemia ORPHA:71272
Hemochromatosis, Type 1
Alopecia, Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Cirrhosis, Testicular atrophy, Osteo... OMIM:235200
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... OMIM:608203
Fgfr2-Related Bent Bone Dysplasia
Hepatosplenomegaly, Extramedullary hematopoiesis ORPHA:313855
Poems Syndrome
Visceromegaly, Polycythemia, Increased circulating prolactin concentration, Hypertrichosis, Ascit... ORPHA:2905
Adams-Oliver Syndrome 6
Hepatic fibrosis, Portal hypertension, Splenomegaly, Esophageal varix OMIM:616589
Dyskeratosis Congenita
White hair, Premature graying of hair, Cirrhosis, Hepatomegaly, Sparse hair, Esophageal stenosis,... ORPHA:1775
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Splenomegaly, Hepatomegaly, Steatorrhea, Jaundice OMIM:235555
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel... OMIM:616005
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
White hair, Fine hair, Lymphopenia, Aganglionic megacolon, Anemia, Reduced bone mineral density, ... ORPHA:935
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hematochezia, Inflammation of the large intestine, Hepatic fibrosis, Lymphadenitis, Cholestasis, ... OMIM:615895
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Peritoneal effusion, Intestinal lymphangiectasi... ORPHA:90362
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Absence of lymph node germinal center, Ascites, Hepatospl... ORPHA:79124
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Neutropenia OMIM:617056
Porphyria, Congenital Erythropoietic
Osteopenia, Cholelithiasis, Alopecia, Hypertrichosis, Splenomegaly, Loss of eyelashes, Hepatomega... OMIM:263700
Autoimmune Hemolytic Anemia, Warm Type
Chronic lymphatic leukemia, Jaundice, Splenomegaly, Autoimmune hemolytic anemia ORPHA:90033
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Anemia OMIM:613092
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Cholestasis, Pancytopenia, Splenomegaly, Hypohidrosis, Cirrh... OMIM:614576
Nephronophthisis 9
Anemia OMIM:613824
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Cholestasis, Splenomegaly, Hepatic steatosis, Polycystic ovari... ORPHA:264580
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79292
Triosephosphate Isomerase Deficiency
Normocytic anemia, Cholelithiasis, Splenomegaly, Macrocytic anemia, Cholecystitis, Prolonged neon... OMIM:615512
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Periostitis, Splenomegaly, Abscess, Neutrophilia, Hepatomegaly, Osteolysis OMIM:612852
Pediatric-Onset Graves Disease
Graves disease, Goiter, Splenomegaly, Increased circulating free T3, Hepatomegaly, Hyperhidrosis,... ORPHA:525731
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Cryptorchidism, Erythroid hypoplasia, ... OMIM:612541
Stormorken Syndrome
Howell-Jolly bodies, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen OMIM:185070
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Neutrophilia, Hematochezia, Hepatitis, Leukocytosis, Autoimmune hemolytic anemia, Splenomegaly, P... OMIM:620565
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegaly, Thyroiditis OMIM:617388
Kenny-Caffey Syndrome, Type 1
Anemia, Congenital hypoparathyroidism, Calvarial osteosclerosis, Decreased skull ossification OMIM:244460
Cartilage-Hair Hypoplasia
Sparse eyebrow, Anal stenosis, Fair hair, Fine hair, Lymphopenia, Macrocytic anemia, Sparse eyela... OMIM:250250
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Alopecia, Nail dystrophy, Abnormal esophagus morphology, Spontaneous esophageal perforation, Anem... OMIM:226600
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Hypochromic anemia, Rickets, Osteomalacia, Leukocytosis, Splenom... ORPHA:289157
Muckle-Wells Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:575
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Portal fibrosis, Cholestasis, Increased intestinal transit time, Villous atroph... OMIM:619377
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple... ORPHA:227990
Common Variable Immunodeficiency
Lymphopenia, Abnormality of the liver, Splenomegaly, Gastrointestinal stroma tumor, Lymphadenopat... ORPHA:1572
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Portal fibrosis, Biliary cirrhosis, Cholestasis, Ascites, Portal hyper... OMIM:617394
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hemophagocytosis, Leukopenia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Anem... OMIM:267700
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Hematochezia, Intrahepatic cholestasis, Hepatitis, Splenomegaly, Ducta... OMIM:613812
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Inflammation of the large intestine, Craniofacial osteosclerosis, Hyperostosis, Anemia, Osteolysis ORPHA:324964
Shwachman-Diamond Syndrome
Aplastic anemia, Hypopituitarism, Pancytopenia, Impaired neutrophil chemotaxis, Acute myeloid leu... ORPHA:811
Mucopolysaccharidosis, Type Iiic
Coarse hair, Dense calvaria, Hypertrichosis, Splenomegaly, Hirsutism, Hepatomegaly, Dysphagia, Sy... OMIM:252930
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemophagocytosis, Leukopenia, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Hepatomegaly, Lymph... OMIM:603553
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Hypopigmentation of hair, Osteopetrosis, Splenomegaly OMIM:618541
Immunodeficiency With Hyper-Igm, Type 1
Absence of lymph node germinal center, Hepatitis, Chronic hepatitis, Splenomegaly, Sclerosing cho... OMIM:308230
Familial Thrombocytosis
Chronic myelogenous leukemia, Splenomegaly, Acute myeloid leukemia, Hyperhidrosis, Thrombocytosis ORPHA:71493
Corticosteroid-Binding Globulin Deficiency
Anemia, Decreased circulating cortisol level OMIM:611489
Mucopolysaccharidosis, Type Iiia
Coarse hair, Dense calvaria, Splenomegaly, Hirsutism, Hepatomegaly, Synophrys OMIM:252900
Hereditary Orotic Aciduria
Anemia, Splenomegaly ORPHA:30
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Intestinal malrotation, Splenomegaly, Abnormally ossified vertebrae ORPHA:3035
Glycogen Storage Disease Ixa1
Hepatomegaly, Splenomegaly OMIM:306000
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Pancytopenia, Abnormal T cell subset distribution, Splenomegaly, Hepatomegaly, ... ORPHA:158048
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Anemia, High palate OMIM:614520
Bazex Syndrome
Anemia, Yellow nails, Nail dystrophy ORPHA:166113
Adams-Oliver Syndrome 5
Dystrophic toenail, Hypersplenism, Splenomegaly, Portal vein thrombosis, Right ventricular hypert... OMIM:616028
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Inflammation of the large intestine, Viral hepatitis, Ascites, Splen... ORPHA:2137
Adult-Onset Still Disease
Bone marrow hypocellularity, Hepatitis, Leukocytosis, Splenomegaly, Hepatomegaly, Generalized lym... ORPHA:829
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Gastroesophageal reflux, Abnormal lymph node morphology, Hepatosplen... ORPHA:85450
Carney Triad
Gastrointestinal hemorrhage, Adrenal overactivity, Ascites, Pheochromocytoma, Gastrointestinal st... ORPHA:139411
Icf Syndrome
Lymphopenia, Protruding tongue, Anemia, Macroglossia, Abnormality of neutrophils ORPHA:2268
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Alopecia, Hepatitis, Ileus, Autoimmune hemolytic anemia, Splenomegaly, Nail dystrophy, Abnormal i... ORPHA:37042
Mucopolysaccharidosis-Plus Syndrome
Bone marrow hypocellularity, Coarse hair, Leukopenia, Long eyelashes, Splenomegaly, Low anterior ... OMIM:617303
Pantothenate Kinase-Associated Neurodegeneration
Osteopenia, Acanthocytosis ORPHA:157850
Hemochromatosis, Type 5