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Gene: Lig1 MGI:101789

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

ligase I, DNA, ATP-dependent

Synonyms:

mLigI, LigI

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Lig1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Lig1 (1 diseases)
Human diseases predicted to be associated with Lig1 (648 diseases)

The table below shows human diseases associated to Lig1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Immunodeficiency 96		Growth delay, Increased proportion of gamma-delta T cells, Increased mean corpuscular volume	OMIM:619774

The table below shows human diseases predicted to be associated to Lig1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Diamond-Blackfan Anemia 19	Erythroid hypoplasia, Steroid-responsive anemia, Anemia	OMIM:618312
Diamond-Blackfan Anemia-Like	Steroid-responsive anemia, Pure red cell aplasia	OMIM:617911
Transient Erythroblastopenia Of Childhood	Transient erythroblastopenia, Anemia	OMIM:227050
Anemia, Congenital Dyserythropoietic, Type Ib	Hepatomegaly, Reticulocytosis, Short stature, Anemia of inadequate production, Anisocytosis, Sple...	OMIM:615631
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia	ORPHA:46532
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Diamond-Blackfan Anemia 17	Anemia	OMIM:617409
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Fetal Cytomegalovirus Syndrome	Splenomegaly, Anemia, Hepatomegaly	ORPHA:294
Cyanosis, Transient Neonatal	Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia	OMIM:613977
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py...	ORPHA:766
Anemia, Sideroblastic, 4	Abnormal erythrocyte morphology, Sideroblastic anemia	OMIM:182170
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Growth delay, Decreased mean corpuscular volume, Pallor, Poikilocytos...	OMIM:615234
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Fanconi Anemia, Complementation Group G	Abnormality of chromosome stability, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:614082
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome...	OMIM:616860
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Hemoglobin E-Beta-Thalassemia Syndrome	Abnormal hemoglobin, Anemia	ORPHA:231249
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Mild postnatal growth retardation, Anisocytosis,...	OMIM:224120
Glutamate-Cysteine Ligase Deficiency	Hepatosplenomegaly, Hemolytic anemia, Jaundice, Reticulocytosis	ORPHA:33574
Heinz Body Anemias	Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia	OMIM:140700
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia	OMIM:618310
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia	Intrauterine growth retardation, Anemia	ORPHA:2802
Congenital Dyserythropoietic Anemia Type Iii	Elevated hepatic transaminase, Short stature, Anisocytosis, Abnormal erythrocyte morphology, Incr...	ORPHA:98870
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Reticuloendotheliosis, X-Linked	Jaundice, Anemia, Hepatosplenomegaly	OMIM:312500
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia	OMIM:205950
Immunodeficiency 54	Hepatomegaly, Chromosome breakage, Failure to thrive, Lymphoproliferative disorder, Short stature...	OMIM:609981
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Jaundice, Leukocytosis, Pallor, Poikilocytosis, Prol...	OMIM:300908
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Decreased hemoglobin concentration, Circulating nucleated red blood cells, Hemolyti...	OMIM:613673
Diamond-Blackfan Anemia 13	Normocytic anemia	OMIM:615909
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity	Abnormality of chromosome stability, Pancytopenia	OMIM:600546
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis	OMIM:206200
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Chromosomal breakage induced by crosslink...	OMIM:616435
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro...	ORPHA:86841
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kina...	OMIM:266200
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Petechiae, Portal hypertension, Splenom...	ORPHA:824
Acute Myelomonocytic Leukemia	Eosinophilia, Leukocytosis, Anemia, Pallor, Thrombocytopenia	ORPHA:517
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ...	ORPHA:75564
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple...	ORPHA:232
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Rh Deficiency Syndrome	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anisocytosis, Jaundice, Spherocytosis, Hepa...	ORPHA:71275
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Chromosome 5Q Deletion Syndrome	Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia	OMIM:153550
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Woronets Trait	Red blood cell keratocytosis	OMIM:194320
Fanconi Anemia, Complementation Group D1	Acute myeloid leukemia, Short stature, T-cell acute lymphoblastic leukemias, Bone marrow hypocell...	OMIM:605724
X-Linked Sideroblastic Anemia	Elevated hepatic transaminase, Splenomegaly, Pallor, Anemia	ORPHA:75563
Fanconi Anemia, Complementation Group V	Chromosomal breakage induced by crosslinking agents, Thrombocytopenia, Bone marrow hypocellularit...	OMIM:617243
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Elliptocytosis 1	Hemolytic anemia, Splenomegaly, Jaundice, Elliptocytosis, Pallor	OMIM:611804
Congenital Atransferrinemia	Abnormality of the pancreas, Anemia	ORPHA:1195
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Elevated hepatic iron concentration, Erythroid hyperplasia, Hy...	OMIM:206100
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, ...	ORPHA:848
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Harderoporphyria	Hemolytic anemia, Hepatomegaly, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice	OMIM:618892
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Postn...	ORPHA:288
Breath-Holding Spells	Iron deficiency anemia, Pallor	OMIM:607578
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy...	OMIM:300835
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia	OMIM:611490
Hereditary Spherocytosis	Hepatomegaly, Reticulocytosis, Extramedullary hematopoiesis, Spontaneous hemolytic crises, Spleno...	ORPHA:822
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Congenital thrombocytopenia, Pet...	OMIM:300367
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Pallor, Poikilocytosis, Anemia	OMIM:616959
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Elevated hepatic transaminase, Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Growth...	ORPHA:300298
Transcobalamin Deficiency	Abnormality of chromosome stability, Pancytopenia, Neutropenia, Lymphopenia, Thrombocytopenia	ORPHA:859
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Growth delay, Pallor	OMIM:613561
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane	Nonspherocytic hemolytic anemia	OMIM:206300
Adenosine Triphosphatase Deficiency, Anemia Due To	Nonspherocytic hemolytic anemia	OMIM:102800
Hemolytic Anemia With Thermal Sensitivity Of Red Cells	Congenital hemolytic anemia	OMIM:235370
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain	Compensated hemolytic anemia	OMIM:142309
Adenylate Kinase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:612631
6-Phosphogluconolactonase Deficiency	Hemolytic anemia	OMIM:172150
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Anemia, Hepatosplenomegaly	OMIM:273680
N Syndrome	Abnormality of chromosome stability, Leukemia	OMIM:310465
Elliptocytosis 3	Pyropoikilocytosis, Intermittent jaundice, Decreased mean corpuscular volume, Elliptocytosis, Chr...	OMIM:617948
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Abnormal hemoglobin, Splenomegaly, Pallor, Anemia	ORPHA:163596
Anemia, Sideroblastic, 1	Sideroblastic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production, Hypochro...	OMIM:300751
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Atransferrinemia	Abnormality of the liver, Hypochromic anemia	OMIM:209300
Nephronophthisis	Anemia	ORPHA:655
Glutathione Peroxidase Deficiency	Heinz bodies, Compensated hemolytic anemia	OMIM:614164
Elliptocytosis 2	Hemolytic anemia, Elliptocytosis, Reticulocytosis	OMIM:130600
Phosphoglycerate Kinase 1 Deficiency	Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis	OMIM:300653
Isobutyryl-Coa Dehydrogenase Deficiency	Anemia	OMIM:611283
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno...	ORPHA:507
Spastic Paraplegia And Evans Syndrome	Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia	OMIM:601608
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hepatosplenomegaly, Hemolytic anemia, Decreased mean corpuscular volume, Reticulocytosis	OMIM:611590
Familial Pseudohyperkalemia	Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume	ORPHA:90044
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hepatomegaly, Anisocytosis	OMIM:604273
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Leukocytosis, Anemia	OMIM:619398
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:54057
Orotic Aciduria	Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi...	OMIM:258900
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Pa...	OMIM:613839
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis, Short stature	ORPHA:66518
Trimethylaminuria	Splenomegaly, Anemia, Neutropenia	OMIM:602079
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Cold Agglutinin Disease	Splenomegaly, Hepatomegaly, Hemolytic anemia, Pallor	ORPHA:56425
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Beta-Thalassemia Intermedia	Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ...	ORPHA:231222
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic anemia, Macrocytic dyserythropoietic anemia	OMIM:619789
Rh-Null, Regulator Type	Hemolytic anemia, Jaundice, Stomatocytosis	OMIM:268150
Evans Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Jaundice, Neutropenia in presence of an...	ORPHA:1959
Mantle Cell Lymphoma	Splenomegaly, Weight loss, B-cell lymphoma, Lymphadenopathy	ORPHA:52416
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
Ataxia-Telangiectasia	Abnormality of chromosome stability, Failure to thrive, Short stature, Decreased circulating anti...	ORPHA:100
Beta-Thalassemia Major	Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ...	ORPHA:231214
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Short stature, Abnormal hemoglobin, Anemia	ORPHA:3319
Pyropoikilocytosis, Hereditary	Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis	OMIM:266140
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly	OMIM:608898
Diamond-Blackfan Anemia 16	Anemia	OMIM:617408
Fanconi Anemia, Complementation Group J	Postnatal growth retardation, Intrauterine growth retardation, Bone marrow hypocellularity, Chrom...	OMIM:609054
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Sitosterolemia 1	Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly...	OMIM:210250
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Mosaic Variegated Aneuploidy Syndrome 4	Abnormality of chromosome stability	OMIM:620153
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:611783
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis	ORPHA:713
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Acute Peripheral Arterial Occlusion	Leukocytosis, Pallor	ORPHA:90064
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2	Intrauterine growth retardation, Increased susceptibility to spontaneous sister chromatid exchang...	OMIM:618097
Thiamine-Responsive Megaloblastic Anemia Syndrome	Short stature, Pallor, Thrombocytopenia, Megaloblastic anemia	ORPHA:49827
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Acute Erythroid Leukemia	Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocellularity, Anemia	ORPHA:318
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Glycogen Storage Disease Vii	Hemolytic anemia, Reticulocytosis, Jaundice, Reduced erythrocyte 2,3-diphosphoglycerate concentra...	OMIM:232800
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Microvesicular hepatic steatosis, ...	OMIM:618278
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Elliptocytosis, Anemia of inadequate production	OMIM:166910
Colorectal Cancer, Susceptibility To, 12	Carcinoma	OMIM:615083
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytos...	ORPHA:66661
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Letterer-Siwe Disease	Jaundice, Hepatosplenomegaly, Anemia, Pallor, Neutropenia, Thrombocytopenia	OMIM:246400
Fetal Parvovirus Syndrome	Intrauterine growth retardation, Thrombocytopenia, Anemia	ORPHA:295
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, B-cell lymphoma, Splenomegaly, Lymphoma, Breast carcinoma, Lymphadenopathy, Hyperhi...	ORPHA:86893
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Spherocytosis, Type 3	Hemolytic anemia, Spherocytosis	OMIM:270970
Niemann-Pick Disease, Type B	Hepatomegaly, Short stature, Bone-marrow foam cells, Splenomegaly, Thrombocytopenia, Sea-blue his...	OMIM:607616
Protoporphyria, Erythropoietic, X-Linked	Elevated hepatic transaminase, Iron deficiency anemia, Cholelithiasis	OMIM:300752
Megaloblastic Anemia, Folate-Responsive	Episodic hemolytic anemia, Schistocytosis, Folate-responsive megaloblastic anemia, Hypersegmentat...	OMIM:601775
Hyperlysinemia, Type I	Anemia	OMIM:238700
Autoimmune Lymphoproliferative Syndrome	Hepatocellular carcinoma, Increased circulating IgG level, Thyroid carcinoma, Lymphocytosis, Incr...	ORPHA:3261
Diamond-Blackfan Anemia 9	Anemia	OMIM:613308
Sickle Cell Disease	Hepatomegaly, Hemolytic anemia, Splenomegaly, Jaundice, Splenic infarction, Leukocytosis, Choleli...	OMIM:603903
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Petechiae, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Ecchym...	OMIM:153670
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Anemia	ORPHA:1802
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Lymphoproliferative disorder, Autoimmune thrombocyt...	OMIM:614470
Glutathione Synthetase Deficiency	Hemolytic anemia	ORPHA:32
Bone Marrow Failure Syndrome 2	Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:615715
Fanconi Anemia, Complementation Group S	Chromosome breakage, Short stature, Breast carcinoma, Ovarian neoplasm, Ovarian carcinoma, Failur...	OMIM:617883
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia	OMIM:612527
Diamond-Blackfan Anemia 20	Erythroid hypoplasia, Anemia	OMIM:618313
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Diamond-Blackfan Anemia 12	Macrocytic anemia, Reticulocytopenia, Normochromic anemia	OMIM:615550
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Fanconi Anemia, Complementation Group R	Chromosomal breakage induced by crosslinking agents, Bone marrow hypocellularity, Anemia	OMIM:617244
Icf Syndrome	Anemia, Abnormality of chromosome stability, Lymphopenia, Abnormality of neutrophils	ORPHA:2268
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Growth delay, Pallor, Hypochromic a...	OMIM:600462
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr...	OMIM:603552
Stormorken-Sjaastad-Langslet Syndrome	Asplenia, Short stature, Anemia, Purpura	ORPHA:3204
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia	ORPHA:100024
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia	OMIM:613313
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia	ORPHA:100025
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:230450
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Anemia	OMIM:616176
Ovalocytosis, Southeast Asian	Hemolytic anemia, Elliptocytosis	OMIM:166900
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Chylomicron Retention Disease	Elevated hepatic transaminase, Acanthocytosis, Growth delay, Increased hepatocellular lipid dropl...	ORPHA:71
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloprolife...	ORPHA:3226
Hemolytic Anemia, Congenital, X-Linked	Hemolytic anemia, Jaundice	OMIM:301015
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Lymphocytosis, Hepatomegaly	OMIM:606445
Ichthyosis, Congenital, Autosomal Recessive 5	White scaling skin, Acanthocytosis	OMIM:604777
Fraxf Syndrome	Folate-dependent fragile site at Xq28	ORPHA:100974
Hypobetalipoproteinemia, Familial, 1	Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino...	OMIM:615558
Fanconi Anemia, Complementation Group N	Aplastic anemia, Postnatal growth retardation, Medulloblastoma, Neuroblastoma, Nephroblastoma, Ch...	OMIM:610832
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration	Acanthocytosis	OMIM:607236
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Lymphoproliferative disorder, B-cell lymphoma, Auto...	OMIM:300853
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hepatomegaly, Pallor, Anemia	OMIM:246450
Bleeding Disorder, Platelet-Type, 16	Petechiae, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Thrombocytopenia	OMIM:187800
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:610539
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia, Pallor	ORPHA:90037
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Bloom Syndrome	Chromosome breakage, Abnormality of chromosome stability, Small for gestational age, Elevated hem...	OMIM:210900
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim...	ORPHA:331206
Congenital Toxoplasmosis	Elevated hepatic transaminase, Hepatomegaly, Thrombocytopenia, Jaundice, Intrauterine growth reta...	ORPHA:858
Hydrops Fetalis, Nonimmune	Anemia	OMIM:236750
Lig4 Syndrome	Hepatomegaly, Pancytopenia, Abnormality of chromosome stability, Leukocytosis, Lymphoma, Lymphade...	ORPHA:99812
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Jaundice, Schistocytosis, Microangiopathic hemolytic anemia, Prolonged neonatal ...	OMIM:274150
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hepatomegaly, Hemolytic anemia, Short stature, Splenomegaly, Jaundice, Growth delay, Stomatocytosis	OMIM:608885
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis	OMIM:269600
Mcleod Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Acanthocytosis, Sple...	OMIM:300842
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Short stature, Splenomegaly, Jaundice, Cholestasis, Neoplasm, Failure to thrive	ORPHA:172
3-Methylglutaconic Aciduria, Type Viia	Anisopoikilocytosis, Anemia, Neutropenia	OMIM:619835
Transaldolase Deficiency	Thrombocytopenia, Hepatosplenomegaly, Cirrhosis, Premature skin wrinkling, Anemia	ORPHA:101028
Nijmegen Breakage Syndrome-Like Disorder	Growth delay, Short stature, Chromosomal breakage induced by ionizing radiation	OMIM:613078
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Aicardi-Goutieres Syndrome 6	Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly	OMIM:615010
Diamond-Blackfan Anemia 5	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Leukopenia	OMIM:612528
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Squamous cell carcinoma, Prostate cancer, Neutropenia, B-cell lymphoma, Myelodysplasia, T-cell ly...	ORPHA:158057
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Anemia	OMIM:613101
Hemochromatosis, Type 3	Elevated hepatic transaminase, Cirrhosis, Neutropenia, Lymphopenia, Anemia, Purpura	OMIM:604250
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic leukemia, Pallor	ORPHA:90033
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Splenomegaly, Anemia, Petechiae, Purpura	OMIM:620296
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Iron deficiency anemia, Pallor, Hepatosplenomegaly	ORPHA:99931
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Anemia	ORPHA:28
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Pearson Marrow-Pancreas Syndrome	Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Pancytopenia, Pancreatic fibro...	OMIM:557000
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:615085
Abetalipoproteinemia	Acanthocytosis	OMIM:200100
Scleroderma, Familial Progressive	Abnormal abdomen morphology, Abnormality of chromosome stability, Chromosome breakage	OMIM:181750
Infantile Liver Failure Syndrome 1	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Macrocytic anemia, Hepatic st...	OMIM:615438
Pernicious Anemia	Megaloblastic anemia	OMIM:170900
Bone Marrow Failure Syndrome 4	Short stature, Rhizomelia, Anemia, Leukopenia, Dry skin, Thrombocytopenia	OMIM:618116
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly	OMIM:619175
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Chromosome breakage, Pancytopenia, Failure to thrive, Aplastic anemia, Sh...	OMIM:617052
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Growth delay, ...	OMIM:616084
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, Hepatic hema...	ORPHA:2330
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor...	OMIM:612840
Immunodeficiency 104	Splenomegaly, Lymphadenopathy, T lymphocytopenia, Hepatomegaly	OMIM:608971
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:235400
Fanconi Anemia, Complementation Group E	Pancytopenia, Chromosomal breakage induced by crosslinking agents, Reticulocytopenia, Anemia, Neu...	OMIM:600901
Majeed Syndrome	Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Growth delay, Decreased m...	OMIM:609628
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, Growth delay, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Failure to thrive, Splenomegaly, B Acute Lymphoblastic Leukemia, Decreased proporti...	OMIM:619824
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Pallor, Neutropenia, Decreased proportion ...	ORPHA:101096
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i...	OMIM:619220
Fanconi Anemia, Complementation Group P	Chromosomal breakage induced by crosslinking agents, Pancytopenia, Anemia	OMIM:613951
Mitochondrial Complex Iv Deficiency, Nuclear Type 16	Failure to thrive, Short stature, Chromosomal breakage induced by crosslinking agents, Decreased ...	OMIM:619060
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Megaloblastic anemia, Pallor, Thrombocytopenia	ORPHA:90045
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia	ORPHA:721
Lathosterolosis	Hepatomegaly, Intrahepatic cholestasis, Meningocele, Anisopoikilocytosis, Abnormal platelet morph...	ORPHA:46059
Autosomal Erythropoietic Protoporphyria	Microcytic anemia, Erythema, Decreased liver function, Cirrhosis, Cholelithiasis	ORPHA:79278
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly	OMIM:607685
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Enlarged mesenteric lymph node, ...	OMIM:209950
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Fanconi Anemia, Complementation Group C	Pancytopenia, Short stature, Small for gestational age, Chromosomal breakage induced by crosslink...	OMIM:227645
Fanconi Anemia, Complementation Group A	Pancytopenia, Chromosomal breakage induced by crosslinking agents, Reticulocytopenia, Anemia, Neu...	OMIM:227650
Developmental And Epileptic Encephalopathy 50	Schistocytosis, Anisopoikilocytosis, Anemia, Acanthocytosis	OMIM:616457
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Malaria	Anemia, Thrombocytopenia	ORPHA:673
Arthrogryposis Multiplex Congenita 5	Normocytic anemia, Acanthocytosis, Growth delay, Poikilocytosis, Umbilical hernia, Premature skin...	OMIM:618947
Immunodeficiency 84	Splenomegaly, B lymphocytopenia	OMIM:619437
Thrombocytopenia 5	Petechiae, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia...	OMIM:616216
Melanoma-Pancreatic Cancer Syndrome	Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano...	OMIM:606719
Caspase 8 Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:607271
Hemochromatosis, Type 4	Anemia, Hepatomegaly, Hepatic steatosis, Cirrhosis	OMIM:606069
Ataxia-Pancytopenia Syndrome	Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto...	OMIM:159550
Plummer-Vinson Syndrome	Iron deficiency anemia, Pallor, Hypochromic microcytic anemia	ORPHA:54028
Formiminoglutamic Aciduria	Anemia, Megaloblastic anemia	ORPHA:51208
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Myelofibrosis	Splenomegaly, Pallor, Myeloproliferative disorder, Purpura	OMIM:254450
Amme Complex	Umbilical hernia, Elliptocytosis, Intrauterine growth retardation	OMIM:300194
Red Cell Permeability Defect	Elliptocytosis	OMIM:179650
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Anemia, Growth delay, Neutropenia, Pancreatitis, Thrombocytopenia	ORPHA:289916
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom...	OMIM:619375
Immunodeficiency 48	Hepatomegaly, Absence of CD8-positive T cells, Splenomegaly, Failure to thrive, Panhypogammaglobu...	OMIM:269840
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Anemia, Purpura	OMIM:614514
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Thrombocytopenia, Anemia	ORPHA:2123
Hereditary Cryohydrocytosis With Reduced Stomatin	Spontaneous hemolytic crises, Short stature, Postnatal growth retardation, Jaundice, Hepatospleno...	ORPHA:168577
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, B lymphocytopenia, Bone marrow hypocellularity, Reduced natural killer cell count, ...	OMIM:620133
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A...	OMIM:601859
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Short stature, Pallor	ORPHA:2786
Sepsis In Premature Infants	Hepatomegaly, Petechiae, Splenomegaly, Jaundice, Leukocytosis, Thrombocytopenia, Decreased liver ...	ORPHA:90051
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Anemic pallor, Anemia of inadequate production, Leukocytosis, Abnormal me...	ORPHA:86839
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia	ORPHA:37748
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Anemia, Hepatomegaly	OMIM:618107
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi...	OMIM:616278
Immunodeficiency 76	B-cell lymphoma, Splenomegaly, Lymphadenopathy, Growth delay, T lymphocytopenia, B lymphocytopeni...	OMIM:619164
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Hodgkin lymphoma, Absent circulating B c...	OMIM:620282
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Thrombocytopenia	ORPHA:88
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Short stature, Splenomegaly, Hepatic fibrosis, Failure to thrive, Hepatic steatosis	OMIM:614480
Multiple Endocrine Neoplasia, Type Iv	Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo...	OMIM:610755
Congenital Rubella Syndrome	Hepatomegaly, Short stature, Splenomegaly, Jaundice, Thrombocytopenia, Intrauterine growth retard...	ORPHA:290
Mixed-Type Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Pallor	ORPHA:90036
Optic Atrophy 1	Pallor	OMIM:165500
Galactose Epimerase Deficiency	Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Growth delay	ORPHA:79238
Immunodeficiency 46	Neutropenia, Anemia, Intermittent thrombocytopenia	OMIM:616740
Immunodeficiency, Common Variable, 2	Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Lymphoma, Lymphaden...	OMIM:240500
Fanconi Anemia, Complementation Group Q	Chromosome breakage, Short stature, Biliary atresia, Growth delay, Bone marrow hypocellularity	OMIM:615272
Choreoacanthocytosis	Acanthocytosis	OMIM:200150
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, T lymphocyt...	OMIM:615513
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Fetal ascites, Hepatomegaly	OMIM:619462
Coach Syndrome 3	Portal fibrosis, Anemia	OMIM:619113
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Growth delay, Hepatic failure, Anemia	ORPHA:75233
Protoporphyria, Erythropoietic, 1	Cholelithiasis, Erythema, Hepatic failure, Hemolytic anemia	OMIM:177000
Dohle Bodies And Leukemia	Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia	OMIM:223350
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Splenomegaly, Ascites, Anemia	ORPHA:1046
Erythrocytosis, Familial, 2	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:263400
Tyrosinemia Type 1	Splenomegaly, Hepatocellular carcinoma, Hepatomegaly	ORPHA:882
Classic Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphoma, Lymphadenopathy, Hyperhidrosis, Weight loss, Neoplasm, Bone...	ORPHA:391
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphoma, Lymphadenopa...	ORPHA:545
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Diffuse pancreatic islet hyperplasia, Pallor, Focal pancreatic islet hyperplasia, Hepatomegaly	ORPHA:276575
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Anemia	ORPHA:371
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs...	OMIM:226990
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Macrocytic anemia, Thrombocytopenia, Leukopenia, Pancreatitis, Anemia	ORPHA:27
Immunodeficiency 102	Hepatomegaly, Autoimmune thrombocytopenia, Nodular regenerative hyperplasia of liver, Neutropenia...	OMIM:301082
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Growth delay, Anemic pallor, Anemia	ORPHA:329971
Dermatitis, Atopic	Dry skin, Pallor, Facial erythema	OMIM:603165
Hyperinsulinism Due To Ucp2 Deficiency	Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly	ORPHA:276556
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell ac...	OMIM:308240
Desmoplastic Small Round Cell Tumor	Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Testicular neoplasm, Cach...	ORPHA:83469
Lathosterolosis	Elevated hepatic transaminase, Bilobate gallbladder, Increased mean platelet volume, Acanthocytos...	OMIM:607330
Fanconi Anemia, Complementation Group I	Short stature, Decreased response to growth hormone stimulation test, Bone marrow hypocellularity...	OMIM:609053
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po...	ORPHA:64743
Combined Oxidative Phosphorylation Deficiency 40	Neonatal death, Intrauterine growth retardation, Decreased liver function, Anemia	OMIM:618835
Nut Midline Carcinoma	Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc...	ORPHA:443167
Combined Oxidative Phosphorylation Deficiency 42	Neonatal death, Intrauterine growth retardation, Decreased liver function, Anemia	OMIM:618839
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Leukopenia, Poikilocytosis, Erythr...	ORPHA:79277
Pearson Syndrome	Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hyp...	ORPHA:699
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, B-cell lym...	OMIM:613011
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
8P11.2 Deletion Syndrome	Hemolytic anemia, Short stature, Splenomegaly, Spherocytosis, Growth delay	ORPHA:251066
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Splenomegaly, Thrombocytopenia, Neutropenia, Pancreatitis, Anemia	ORPHA:79312
Tempi Syndrome	Ascites, Increased hematocrit, Polycythemia	ORPHA:284227
Cholesteryl Ester Storage Disease	Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio...	OMIM:278000
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Pancreatic islet-cell hyperplasia, Pallor	ORPHA:276608
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Short Stature With Microcephaly And Distinctive Facies	Severe short stature, Anisopoikilocytosis, Anemia	OMIM:615789
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly	ORPHA:276580
Orthostatic Hypotension 2	Anemia	OMIM:618182
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Lymphoproliferative disorder, Splenomegaly, Lymphoma...	OMIM:615122
Activated Pi3K-Delta Syndrome	Hepatomegaly, Splenomegaly, Lymphoma, Recurrent tonsillitis, Lymphadenopathy, Decreased circulati...	ORPHA:397596
Reticular Dysgenesis	Anemia, Leukopenia, Skin ulcer, Abnormality of neutrophils	ORPHA:33355
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Reticulocytosis, Leukocytosis, Schistocytosis, Peritonitis, Microangiopathic hemolytic anemia, Pa...	ORPHA:90038
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Increased mean corpuscular ...	OMIM:617021
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Jaundice, Leukocytosis, Lipid ac...	ORPHA:20
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Splenomegaly, Micronodular cirrhosis, Thrombocytopenia, Hepatosplenom...	OMIM:606003
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Pallor, Leukemia, Purpura	ORPHA:33226
Tufted Angioma	Anemia, Petechiae, Thrombocytopenia, Purpura	ORPHA:1063
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Intrauterine growth retardation, Short stature, Anemia, Neutropenia	OMIM:617056
Fanconi Anemia, Complementation Group F	Chromosomal breakage induced by crosslinking agents, Anemia, Leukopenia, Bone marrow hypocellular...	OMIM:603467
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut...	OMIM:618849
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia	OMIM:610333
Nijmegen Breakage Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Abnormality of chromosome stability, Glioma, B-cel...	ORPHA:647
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Spl...	ORPHA:398124
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Fanconi Anemia, Complementation Group B	Abnormality of chromosome stability, Aplastic anemia, Thrombocytopenia	OMIM:300514
Mitochondrial Complex I Deficiency, Nuclear Type 39	Intrauterine growth retardation, Anemia	OMIM:620135
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff...	OMIM:612714
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Short stature, B-cell lymphoma, Splenomegaly, Enlarged tonsils, ...	OMIM:616005
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia	OMIM:618398
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Thrombocytopenia, Cholestasis, Decreased liver function, Neonatal death, Intrauteri...	OMIM:608104
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Pallor	ORPHA:324575
Babesiosis	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Leukopenia, Thrombocytopenia	ORPHA:108
Maternal Uniparental Disomy Of Chromosome 4	Abnormal erythrocyte morphology, Postnatal growth retardation, Short stature, Acanthocytosis	ORPHA:96180
American Trypanosomiasis	Splenomegaly, Hepatomegaly, Pallor	ORPHA:3386
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio	OMIM:618495
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Anemia, Congenital Dyserythropoietic, Type Iiia	Macrocytic anemia, Jaundice, Anemia of inadequate production, Congenital hypoplastic anemia	OMIM:105600
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:610293
Lesch-Nyhan Syndrome	Anemia	ORPHA:510
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Pancytopenia, Aplastic anemia, Cirrhosis, Myeloid leukemia, Anemia	OMIM:614742
Radial-Renal Syndrome	Chromosome breakage	OMIM:179280
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Throm...	ORPHA:905
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia	OMIM:616738
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A...	OMIM:603909
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Fanconi Anemia, Complementation Group D2	Pancytopenia, Short stature, Small for gestational age, Thrombocytopenia, Chromosomal breakage in...	OMIM:227646
Cowden Syndrome 1	Hyperthyroidism, Fibroadenoma of the breast, Thyroiditis, Breast carcinoma, Carcinoma, Hamartomat...	OMIM:158350
Fanconi Anemia, Complementation Group L	Chromosome breakage, Chromosomal breakage induced by crosslinking agents, Bone marrow hypocellula...	OMIM:614083
Immunodeficiency 42	Splenomegaly, Hypoplasia of the thymus, Hepatomegaly	OMIM:616622
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, B lymphocyt...	OMIM:150550
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites	OMIM:271500
Senior-Loken Syndrome 4	Anemia	OMIM:606996
Cinca Syndrome	Eosinophilia, Leukocytosis, Hepatosplenomegaly, Growth delay, Anemia	OMIM:607115
Oslam Syndrome	Anemia	OMIM:165660
Glucagonoma	Neoplasm of the pancreas, Hepatomegaly, Acanthocytosis, Necrolytic migratory erythema, Intrahepat...	ORPHA:97280
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia	ORPHA:158029
Fanconi Anemia, Complementation Group O	Chromosome breakage	OMIM:613390
Prolidase Deficiency	Hepatomegaly, Petechiae, Elevated circulating aspartate aminotransferase concentration, Splenomeg...	OMIM:170100
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Hemophagocytosis	OMIM:300635
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Short stature, Splenomegaly, Jaundice, Elevated circulating alan...	OMIM:611881
Abetalipoproteinemia	Elevated hepatic transaminase, Hepatomegaly, Reticulocytosis, Acanthocytosis, Hepatic fibrosis, C...	ORPHA:14
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Fragile X Syndrome	Folate-dependent fragile site at Xq28	OMIM:300624
Gaucher Disease, Type Iii	Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatomegaly	OMIM:231000
Primary Lateral Sclerosis, Juvenile	Pallor	OMIM:606353
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Hepatomegaly, Short stature, Postnatal growth retardation, Splen...	OMIM:620210
Optic Atrophy 7 With Or Without Auditory Neuropathy	Pallor	OMIM:612989
Amed Syndrome, Digenic	Acute myeloid leukemia, Short stature, Anemia, Leukopenia, Thrombocytopenia	OMIM:619151
Familial Adenomatous Polyposis 1	Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medulloblastoma, Desmoid tumor...	OMIM:175100
Diamond-Blackfan Anemia	Acute myeloid leukemia, Short stature, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytop...	ORPHA:124
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Short stature, Splenomegaly, Jaundice, Acholic stools, Portal fibrosis, Failure to ...	OMIM:619868
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:617068
Revesz Syndrome	Abnormality of chromosome stability, Aplastic anemia, Bone marrow hypocellularity	OMIM:268130
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat...	OMIM:619463
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Neutrophilia, Liver abscess, Abnormality of the pancreas, Anemia	ORPHA:54251
Beta-Ketothiolase Deficiency	Hepatomegaly, Leukocytosis, Thrombocytosis, Pallor	ORPHA:134
Combined Oxidative Phosphorylation Deficiency 41	Intrauterine growth retardation, Anemia	OMIM:618838
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Splenomegaly, Anemia, Reduced natural killer cell count, Thrombocytopenia	OMIM:616050
Indolent Systemic Mastocytosis	Hepatomegaly, Hematological neoplasm, Splenomegaly, Lymphadenopathy, Increased proportion of CD25...	ORPHA:98848
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Transcobalamin Ii Deficiency	Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia	OMIM:275350
Irida Syndrome	Intrahepatic cholestasis, Pallor	ORPHA:209981
Omenn Syndrome	Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Dry skin, Abnormal lymphocyte morphology,...	ORPHA:39041
Congenital Bile Acid Synthesis Defect Type 1	Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Neonatal cholestatic ...	ORPHA:79301
Hemochromatosis, Type 5	Anemia, Elevated hepatic iron concentration	OMIM:615517
Macrophage Activation Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Thromb...	ORPHA:158061
Focal Segmental Glomerulosclerosis 1	Ascites, Anemia	OMIM:603278
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Cyclic Vomiting Syndrome	Growth delay, Pallor	OMIM:500007
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hemo...	OMIM:301078
Fragile X Syndrome	Folate-dependent fragile site at Xq28	ORPHA:908
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereo...	OMIM:617388
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Familial Benign Copper Deficiency	Short stature, Anemia	ORPHA:1551
Diamond-Blackfan Anemia 1	Macrocytic anemia, Thrombocytosis, Short stature, Congenital hypoplastic anemia, Reticulocytopeni...	OMIM:105650
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Pancytopenia, Short stature, Thrombocytopenia, Leukopenia, Elliptocytosis, Anemia	ORPHA:2785
Isolated Sedoheptulokinase Deficiency	Short stature, Portal hypertension, Hepatitis, Cholestasis, Hypochromic microcytic anemia, Severe...	ORPHA:440713
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Abnormal erythrocyte enzyme level, Thrombocytope...	ORPHA:447
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Petechiae, Splenomegaly, Jaundice, Thrombocytopenia,...	ORPHA:540
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis	OMIM:619658
Congenital Heart Block	Intrauterine growth retardation, Pallor	ORPHA:60041
Bone Marrow Failure Syndrome 5	Short stature, Pure red cell aplasia, Erythroid hypoplasia, Growth delay, Anemia	OMIM:618165
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Anemia	ORPHA:2668
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Short stature, Anemia, Excessive wrinkled skin, Intrauterine growt...	ORPHA:3322
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Pancreatic islet-cell hyperplasia, Pallor, Increased...	ORPHA:263455
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Generalized lymphadenopathy, Lymphoproliferative disorder, Autoimmune hemolytic ane...	OMIM:614700
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:231095
Aggressive Systemic Mastocytosis	Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomeg...	ORPHA:98850
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp...	ORPHA:436159
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:266120
Senior-Loken Syndrome 8	Pancreatic cysts, Pallor, Hepatic cysts, Intrahepatic bile duct dilatation	OMIM:616307
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hepatomegaly, Hemolytic ...	OMIM:308230
Idiopathic Hypereosinophilic Syndrome	Elevated hepatic transaminase, Neutrophilia, Cholangitis, Eosinophilia, Splenomegaly, Leukocytosi...	ORPHA:3260
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Anemia	OMIM:613092
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Lymphadenopathy	OMIM:611762
Niemann-Pick Disease, Type A	Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenopathy, Sea-blue ...	OMIM:257200
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ...	OMIM:619802
Fumarase Deficiency	Intrahepatic cholestasis, Hepatic failure, Polycythemia, Pallor	OMIM:606812
Hydatidiform Mole	Anemia	ORPHA:99927
Spontaneous Periodic Hypothermia	Pallor	ORPHA:29822
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia	ORPHA:79477
Immunodeficiency, Common Variable, 1	Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo...	OMIM:607594
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Elliptocytosis	ORPHA:86818
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:230800
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Thrombocytopenia, Growth delay, Leukopen...	ORPHA:77259
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease	OMIM:214900
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Anemia, Thrombocytopenia, Lymphopenia, Portal hypertension	OMIM:620365
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem...	ORPHA:514
Amyloidosis, Familial Visceral	Splenomegaly, Cholestasis, Hepatomegaly	OMIM:105200
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Hepatitis, Anemia, Coombs-positive hemolytic anemia, N...	OMIM:304790
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Hepatos...	OMIM:618935
Methylmalonic Aciduria, Cblb Type	Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Decreased methylmalonyl-CoA mutase activity, Thr...	OMIM:251110
Copper Deficiency, Familial Benign	Anemia	OMIM:121270
Familial Thrombocytosis	Acute myeloid leukemia, Myelodysplasia, Splenomegaly, Chronic myelogenous leukemia, Hyperhidrosis...	ORPHA:71493
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy...	ORPHA:86843
Adenohypophysitis	Normochromic anemia, Pallor	ORPHA:95512
Sézary Syndrome	Hepatomegaly, Cutaneous T-cell lymphoma, Abnormal immunoglobulin level, Splenomegaly, Lymphoma, L...	ORPHA:3162
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Growth delay, Iron deficiency anemia, Thrombocytosis, Anemia	OMIM:226300
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:259710
Nephronophthisis 11	Growth delay, Hepatic fibrosis, Anemia	OMIM:613550
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah...	OMIM:619849
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Short stature, Abnormal erythrocyte enzyme level, Sp...	ORPHA:264580
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Splenomegaly, Growth delay, Pallor, Anemia	ORPHA:667
Bazex Syndrome	Scaling skin, Anemia	ORPHA:166113
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia	ORPHA:85212
Neutrophilic Dermatosis, Acute Febrile	Erythema, Pyoderma gangrenosum, Anemia	OMIM:608068
Retinitis Pigmentosa 51	Pallor	OMIM:613464
Shwachman-Diamond Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Short stature,...	OMIM:260400
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu...	ORPHA:381
Glycogen Storage Disease Ixb	Splenomegaly, Increased hepatic glycogen content, Hepatomegaly	OMIM:261750
Cartilage-Hair Hypoplasia	Hepatomegaly, Abnormality of chromosome stability, Abnormality of the pancreas, Neutropenia, Anemia	ORPHA:175
Stormorken Syndrome	Howell-Jolly bodies, Short stature, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia	OMIM:185070
Interstitial Lung And Liver Disease	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:615486
Panhypophysitis	Normochromic anemia, Pallor	ORPHA:95513
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly	OMIM:619183
Felty Syndrome	Hepatomegaly, Thrombocytopenia, Splenomegaly, Lymphoma, Lymphadenopathy, Weight loss, Bone marrow...	ORPHA:47612
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Folate-dependent fragile site at Xq28	ORPHA:85327
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hype...	ORPHA:79124
Myopathic Ehlers-Danlos Syndrome	Pallor	ORPHA:536516
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Short stature, Elliptocytosis, Anemia	OMIM:300990
Essential Thrombocythemia	Splenomegaly, Abnormal platelet morphology, Acute leukemia	ORPHA:3318
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Failure to thrive, Impaired T cell function, Pure red cell aplasia, ...	OMIM:613179
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Pituitary Apoplexy	Normochromic anemia, Pallor	ORPHA:95613
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B...	ORPHA:1414
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Anemia	ORPHA:3405
Diamond-Blackfan Anemia 10	Macrocytic anemia, Steroid-responsive anemia, Reticulocytopenia, Anemia	OMIM:613309
Oncogenic Osteomalacia	Neoplasm of the skeletal system, Neoplasm of head and neck, Neurofibroma, Carcinoma, Giant cell t...	ORPHA:352540
Dravet Syndrome	Pallor	ORPHA:33069
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia	ORPHA:169090
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Pallor	ORPHA:348
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia...	OMIM:602450
Palmoplantar Carcinoma, Multiple Self-Healing	Carcinoma, Squamous cell carcinoma	OMIM:615225
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop...	OMIM:616100
Non-Functioning Pituitary Adenoma	Pallor, Anemia of inadequate production	ORPHA:91349
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612926
Pantothenate Kinase-Associated Neurodegeneration	Acanthocytosis	ORPHA:157850
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612924
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal reticulocyte morphology	ORPHA:2522
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Short stature, Anemia, Hepatosplenomegaly	OMIM:259730
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Short stature, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrh...	OMIM:601847
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice, Normochromic anem...	OMIM:615512
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Breast carcinoma, Squamou...	ORPHA:454840
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Abnorm...	ORPHA:158048
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Oropharyngeal squamous cell carcinoma, Pancytopenia, Short stature, Myelo...	OMIM:305000
Fish-Eye Disease	Splenomegaly, Lymphadenopathy, Hepatomegaly	ORPHA:79292
Sheehan Syndrome	Normochromic anemia, Dry skin, Pallor	ORPHA:91355
Cholestasis, Progressive Familial Intrahepatic, 3	Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro...	OMIM:602347
Marburg Hemorrhagic Fever	Lymphopenia, Reticulocytosis, Jaundice, Neutrophilia in presence of infection, Lymphadenopathy, L...	ORPHA:99826
Immunodeficiency 60 And Autoimmunity	Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count	OMIM:618394
Non-Functioning Paraganglioma	Pallor	ORPHA:94080
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Thrombocytopenia, Lymphopenia, Anemia	OMIM:617591
Fanconi Anemia, Complementation Group U	Chromosome breakage	OMIM:617247
Ornithine Transcarbamylase Deficiency	Splenomegaly	ORPHA:664
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612925
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Short stature, Myelodysplasia, Thrombocytopenia, Reticulocytopenia, Leukopenia, Rhizomelic arm sh...	ORPHA:508542
Riddle Syndrome	Generalized lymphadenopathy, Short stature, Weight loss, Decreased circulating total IgM, Chromos...	ORPHA:420741
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia, Abnormal number of alpha granules	OMIM:139090
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Pallor, Polycythemia	ORPHA:892
Hereditary Orotic Aciduria	Splenomegaly, Anemia	ORPHA:30
Common Variable Immunodeficiency	Hemolytic anemia, Failure to thrive in infancy, Autoimmune thrombocytopenia, Gastrointestinal str...	ORPHA:1572
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Thrombocytopenia, Hepatic necrosis, Leukopenia, Increased mean corpuscular volum...	OMIM:127550
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice...	OMIM:214500
Methylmalonic Aciduria, Cbla Type	Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Decreased methylmalonyl-CoA mutase activity, Thr...	OMIM:251100
Corticosteroid-Binding Globulin Deficiency	Anemia	OMIM:611489
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Abnormality of chromosome stability, Short stature, M...	ORPHA:84
Osteootohepatoenteric Syndrome	Microvesicular hepatic steatosis, Cholestasis, Portal fibrosis, Hepatic fibrosis, Prolonged neona...	OMIM:619377
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Short stature, Splenomegaly, Jaund...	OMIM:211600
Punctate Palmoplantar Keratoderma Type 1	Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ...	ORPHA:79501
Good Syndrome	Abnormal leukocyte morphology, Mediastinal lymphadenopathy, Thymoma, Anemia, Aplasia/Hypoplasia o...	ORPHA:169105
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, B-cel...	OMIM:102700
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Hepatosplenomegaly, Anemia, Leukopenia, Lymph...	OMIM:603553
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Leukopenia, Hemophagocytosis, Thro...	OMIM:267700
Kcnq2-Related Epileptic Encephalopathy	Pallor, Facial erythema	ORPHA:439218
Senior-Boichis Syndrome	Elevated hepatic transaminase, Malformation of the hepatic ductal plate, Portal hypertension, Con...	ORPHA:84081
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Leukocytosis, Pallor, Pancreatitis, Thrombocytopenia	ORPHA:544482
Kaposiform Lymphangiomatosis	Pancreatic cysts, Splenomegaly, Abnormality of the lymphatic system, Hepatosplenomegaly, Anemia, ...	ORPHA:464329
Meningioma	Decreased circulating cortisol level, Neoplasm of the anterior pituitary, Reduced circulating pro...	ORPHA:2495
Glycogen Storage Disease Ixc	Hepatomegaly, Postnatal growth retardation, Splenomegaly, Growth delay, Bile duct proliferation, ...	OMIM:613027
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Gaisböck Syndrome	Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased hematocrit, Elevated...	ORPHA:90041
Nephronophthisis 4	Growth delay, Anemia	OMIM:606966
Incontinentia Pigmenti	Short stature, Eosinophilia, Leukocytosis, Erythema, Pallor	OMIM:308300
Degcags Syndrome	Hepatomegaly, Pancytopenia, Congenital hypoplastic anemia, Cholestasis, Hepatosplenomegaly, Leuko...	OMIM:619488
Hyper-Igd Syndrome	Neutrophilia, Increased circulating IgA level, Lymphadenitis, Leukocytosis, Splenomegaly, Hepatos...	OMIM:260920
Castleman Disease	Generalized lymphadenopathy, Abdominal mass, Follicular hyperplasia, Mediastinal lymphadenopathy,...	ORPHA:160
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor	ORPHA:13
Lysinuric Protein Intolerance	Hepatomegaly, Short stature, Splenomegaly, Thrombocytopenia, Cutis laxa, Leukopenia, Hemophagocyt...	OMIM:222700
Myopathy, Mitochondrial, And Ataxia	Growth delay, Short stature, Pallor	OMIM:617675
Rheumatic Fever	Erythema, Pallor	ORPHA:3099
Tangier Disease	Thrombocytopenia, Dry skin, Anemia, Hepatosplenomegaly	ORPHA:31150
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Lymphadenitis, Leukocytosis, Splenomegaly, Cholestasis, Lymphadenopathy, Growth del...	OMIM:615895
Bile Acid Synthesis Defect, Congenital, 2	Splenomegaly, Jaundice, Intrahepatic cholestasis, Hepatomegaly	OMIM:235555
Choreoacanthocytosis	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Acanthocytosis, Abno...	ORPHA:2388
Gastrointestinal Stromal Tumor	Abnormality of the liver, Anemia	ORPHA:44890
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Hepatomegaly, Failure to thrive, Splenomegaly, Cholestasis, ...	OMIM:300972
Bile Acid Synthesis Defect, Congenital, 1	Giant cell hepatitis, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Acholic sto...	OMIM:607765
Nephronophthisis 1	Growth delay, Anemia	OMIM:256100
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Pancreatic cysts, Pulmonary capillary hemangiomatosis, Spinal hemangiob...	OMIM:193300
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Syndromic Diarrhea	Hepatomegaly, Short stature, Small for gestational age, Increased mean platelet volume, Splenomeg...	ORPHA:84064
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Laryngeal carcinoma, Palmoplantar hyperhidrosis, Carcinoma	OMIM:610644
Hyperparathyroidism, Neonatal Severe	Splenomegaly, Anemia, Hepatomegaly	OMIM:239200
Polycythemia Vera	Hepatomegaly, Portal hypertension, Myelodysplasia, Portal vein thrombosis, Splenomegaly, Acute le...	ORPHA:729
Neurodegeneration With Brain Iron Accumulation 1	Acanthocytosis	OMIM:234200
Tyrosinemia, Type I	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Growth delay, P...	OMIM:276700
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Abnormality of the pancreas, Lymphopenia, Anemia	ORPHA:935
Gaucher Disease, Type Ii	Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly	OMIM:230900
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hepatitis, Acholic stools, Bile d...	OMIM:613812
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Intermittent thrombocytopenia, Erythroid hypoplasia, Thrombocytopenia, Splenomegaly...	OMIM:612541
Budd-Chiari Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Cholecystitis, Cirrhosis,...	ORPHA:131
Tay-Sachs Disease	Pallor	OMIM:272800
Isolated Biliary Atresia	Hepatomegaly, Small for gestational age, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis...	ORPHA:30391
Aicardi Syndrome	Postnatal growth retardation, Teratoma, Carcinoma, Lipoma, Hepatoblastoma, Metastatic angiosarcom...	OMIM:304050
Cone-Rod Dystrophy 8	Pallor	OMIM:605549
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ...	ORPHA:53035
Chronic Granulomatous Disease	Hepatomegaly, Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lymphadenopathy	ORPHA:379
Childhood Absence Epilepsy	Pallor	ORPHA:64280
Sporadic Pheochromocytoma/Secreting Paraganglioma	Pallor	ORPHA:276621
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,...	OMIM:208540
Primary Sclerosing Cholangitis	Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of the gallbladder, Adenocarcinoma of ...	ORPHA:171
Gaucher Disease, Type Iiic	Splenomegaly, Pancytopenia, Cardiomegaly, Hepatomegaly	OMIM:231005
Prolactinoma	Pallor, Delayed puberty	ORPHA:2965
Osteopetrosis, Autosomal Recessive 7	Splenomegaly, Anemia, Hepatomegaly	OMIM:612301
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233710
Histiocytoid Cardiomyopathy	Hepatomegaly, Pallor	ORPHA:137675
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233690
Goodpasture Syndrome	Pallor, Anemia	OMIM:233450
Hereditary Pheochromocytoma-Paraganglioma	Pallor	ORPHA:29072
Apolipoprotein C-Ii Deficiency	Splenomegaly, Pancreatitis, Hepatomegaly	OMIM:207750
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Cholelithiasis, Thrombocytopenia	OMIM:263700
Multiple Myeloma	Splenomegaly, Anemia, Lymphadenopathy	ORPHA:29073
Alternating Hemiplegia Of Childhood	Pallor	ORPHA:2131
Hyperlipoproteinemia, Type Id	Hepatomegaly, Splenomegaly, Recurrent pancreatitis, Failure to thrive, Pancreatitis	OMIM:615947
Multiple Endocrine Neoplasia Type 2	Neoplasm of the liver, Pallor	ORPHA:653
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly	OMIM:238600
Esophageal Atresia	Growth delay, Pallor	ORPHA:1199
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Hepatic arteriovenous malformation, Anemia	OMIM:175050
Tsh-Secreting Pituitary Adenoma	Pallor, Delayed puberty	ORPHA:91347
Immunodeficiency 96	Growth delay, Increased proportion of gamma-delta T cells, Increased mean corpuscular volume	OMIM:619774
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Pallor	OMIM:253280
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Pallor	ORPHA:99125

Histopathology

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

There is no histopathology data for Lig1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Lig1.

No publications found that use IMPC mice or data for Lig1.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Lig1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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