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Gene: Golt1a MGI:1915588

Gene Summary

Name:

golgi transport 1A

Synonyms:

0610012C01Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
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.

Phenotype	Allele	Zyg	Life Stage	P Value
increased circulating alkaline phosphatase level	Golt1a^{tm1b(KOMP)Wtsi}	HOM	Early adult	8.88×10^-16
increased circulating bilirubin level	Golt1a^{tm1b(KOMP)Wtsi}	HOM	Early adult	6.70×10^-05
increased mean corpuscular hemoglobin	Golt1a^{tm1b(KOMP)Wtsi}	HOM	Early adult	2.48×10^-12
thrombocytopenia	Golt1a^{tm1b(KOMP)Wtsi}	HOM	Early adult	8.15×10^-05
decreased circulating glucose level	Golt1a^{tm1b(KOMP)Wtsi}	HOM	Early adult	6.53×10^-05

Download data as: TSV XLS

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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.

Legacy Phenotype Associated Images

Golt1a^{tm1a(KOMP)Wtsi}
WT, Female, WTSI

View all 36 images

Golt1a^{tm1a(KOMP)Wtsi}
WT, Male, WTSI

Golt1a^{tm1a(KOMP)Wtsi}
abnormal retinal pigmentation, abnormal retina morphology, WT, Male, WTSI

Human diseases caused by Golt1a 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 Golt1a (0 diseases)
Human diseases predicted to be associated with Golt1a (634 diseases)

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

The table below shows human diseases predicted to be associated to Golt1a by phenotypic similarity.

Disease	Matching phenotypes	Source
Glutathione Peroxidase Deficiency	Heinz bodies, Neonatal hyperbilirubinemia, Compensated hemolytic anemia	OMIM:614164
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia	ORPHA:231249
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Fava bean-induced hemolytic anemia, Hyperbilirubinemia	OMIM:618660
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Hyperbilirubinemia, Erythroid hyp...	OMIM:237800
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Hyperbilirubinemia	OMIM:179700
Malaria	Anemia, Thrombocytopenia, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration	ORPHA:673
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co...	ORPHA:766
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Crigler-Najjar Syndrome Type 2	Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia	ORPHA:79235
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Megaloblastic Anemia, Folate-Responsive	Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto...	OMIM:601775
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog...	OMIM:616689
Immune Thrombocytopenia	Thrombocytopenia	OMIM:188030
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Spleno...	OMIM:616860
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
Jaundice, Familial Obstructive, Of Infancy	Neonatal hyperbilirubinemia	OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii	Conjugated hyperbilirubinemia	OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal	Neonatal unconjugated hyperbilirubinemia	OMIM:237900
Crigler-Najjar Syndrome, Type Ii	Unconjugated hyperbilirubinemia	OMIM:606785
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia	OMIM:612653
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia	OMIM:616649
Elliptocytosis 2	Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis	OMIM:130600
Hypercholanemia, Familial, 2	Increased serum bile acid concentration, Unconjugated hyperbilirubinemia	OMIM:619256
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Cholestasis, Progressive Familial Intrahepatic, 12	Conjugated hyperbilirubinemia, Increased serum bile acid concentration, Hyperbilirubinemia, Splen...	OMIM:620010
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen...	ORPHA:263458
Hyperbilirubinemia, Rotor Type	Conjugated hyperbilirubinemia	OMIM:237450
Cholestasis, Progressive Familial Intrahepatic, 11	Abnormal circulating bilirubin concentration, Increased serum bile acid concentration	OMIM:619874
Thrombocytopenia 7	Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i...	OMIM:619130
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia	OMIM:237500
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Crigler-Najjar Syndrome, Type I	Unconjugated hyperbilirubinemia	OMIM:218800
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Amegakaryocytic Thrombocytopenia, Congenital, 1	Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia	OMIM:604498
Hemoglobin H Disease	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia	OMIM:182900
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Normochromic anemia, Hyperbilirubinemia, Nonsph...	OMIM:235700
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El...	ORPHA:232
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Rh-Null, Regulator Type	Hemolytic anemia, Stomatocytosis, Unconjugated hyperbilirubinemia	OMIM:268150
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Cholestasis, Progressive Familial Intrahepatic, 10	Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra...	OMIM:619868
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Increased ...	ORPHA:3202
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Bleeding Disorder, Platelet-Type, 16	Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat...	OMIM:187800
Rotor Syndrome	Conjugated hyperbilirubinemia, Hyperbilirubinemia	ORPHA:3111
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, S...	OMIM:224120
Crigler-Najjar Syndrome Type 1	Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia	ORPHA:79234
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T...	ORPHA:79299
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Increased serum iron, Increased mean corpuscular v...	ORPHA:98870
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Edinburgh Malformation Syndrome	Neonatal hyperbilirubinemia	OMIM:129850
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia	OMIM:133180
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:141000
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote...	ORPHA:158057
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Stomatocytosis,...	ORPHA:288
Bile Acid Synthesis Defect, Congenital, 5	Splenomegaly, Iron deficiency anemia, Increased total iron binding capacity, Increased serum bile...	OMIM:616278
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia	ORPHA:46532
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kinase level, Sple...	OMIM:266200
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Unconjugated hyperbilirubinemia, Poiki...	OMIM:300908
Diabetes Mellitus, Permanent Neonatal, 4	Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus...	OMIM:618858
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Anemia	OMIM:616176
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Harderoporphyria	Hemolytic anemia, Reticulocytosis, Splenomegaly, Increased circulating ferritin concentration, Ne...	OMIM:618892
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia	OMIM:166990
Gilbert Syndrome	Unconjugated hyperbilirubinemia	OMIM:143500
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volum...	OMIM:185000
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome...	ORPHA:71275
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia	OMIM:124900
Diabetes Mellitus, Transient Neonatal, 3	Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ...	OMIM:610582
Hyperinsulinemic Hypoglycemia, Familial, 7	Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:610021
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Thrombocyt...	OMIM:607616
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Nephrotic Syndrome, Type 7	Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia	OMIM:615008
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, Anemia, Hemopha...	OMIM:603552
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis	ORPHA:713
Preeclampsia/Eclampsia 1	Thrombocytopenia	OMIM:189800
Maturity-Onset Diabetes Of The Young, Type 13	Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet...	OMIM:616329
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Elevated circulating alpha-fetoprotein concentration, Neutropenia	OMIM:617243
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Glycogen Storage Disease Vii	Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Reduced er...	OMIM:232800
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia, Hypoglycemia	ORPHA:366
Pseudo-Von Willebrand Disease	Intermittent thrombocytopenia	OMIM:177820
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb...	OMIM:173590
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Bone Marrow Failure Syndrome 2	Leukopenia, Thrombocytopenia, Anemia	OMIM:615715
Acute Myelomonocytic Leukemia	Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia	ORPHA:517
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Diabetes Mellitus, Permanent Neonatal, 1	Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hy...	OMIM:606176
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper...	OMIM:605814
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg...	OMIM:613101
Fanconi Anemia, Complementation Group G	Thrombocytopenia, Leukemia, Anemia, Neutropenia	OMIM:614082
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom...	ORPHA:75564
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia	OMIM:615285
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Increased total bilirubin	OMIM:174050
Roch-Leri Mesosomatous Lipomatosis	Thrombocytopenia	ORPHA:529
Glycogen Storage Disease Vi	Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia	OMIM:232700
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole...	OMIM:267700
Fetal Parvovirus Syndrome	Thrombocytopenia, Anemia	ORPHA:295
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating...	ORPHA:247598
Maturity-Onset Diabetes Of The Young, Type 14	Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young	OMIM:616511
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Cholestasis-Lymphedema Syndrome	Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia	OMIM:214900
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy...	OMIM:300835
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Diabetes mellitus, Megaloblastic anemia, Neutropenia, Thrombocytopenia	OMIM:598500
Relapsing Fever	Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos...	ORPHA:91547
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia	OMIM:610539
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Increased serum pyruvate, Hypoglycemia, Hyperammonemia, Elevated circulating suberic acid concent...	OMIM:615160
Transaldolase Deficiency	Thrombocytopenia, Hepatosplenomegaly, Abnormal circulating glutamine concentration, Increased ser...	ORPHA:101028
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia	ORPHA:846
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia, Increased total bilirubin	ORPHA:90037
Bilateral Striopallidodentate Calcinosis	Thrombocytopenia	ORPHA:1980
Atypical Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:2134
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Ataxia-Pancytopenia Syndrome	Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto...	OMIM:159550
Biliary Atresia, Extrahepatic	Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin	OMIM:210500
Hepatic Veno-Occlusive Disease	Increased total bilirubin	ORPHA:890
Isolated Polycystic Liver Disease	Increased total bilirubin	ORPHA:2924
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Gray Platelet Syndrome	Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia	ORPHA:721
Hepatoportal Sclerosis	Hypersplenism, Thrombocytopenia, Splenomegaly, Leukopenia, Hypoalbuminemia, Hyperbilirubinemia, A...	ORPHA:64743
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Leukocyte inclusion bodies, Giant platelets, Macrothrombocytopenia, Neutrophil inclusion bodies, ...	OMIM:155100
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Neonatal hyperbilirubinemia	ORPHA:3363
Hereditary Spherocytosis	Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Splenomegaly, Sphero...	ORPHA:822
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia	OMIM:619302
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Neonatal Hemochromatosis	Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia	ORPHA:446
3-Methylglutaconic Aciduria Type 4	Hypoglycemia, Thrombocytopenia	ORPHA:67048
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro...	OMIM:210250
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Cholestasis, Benign Recurrent Intrahepatic, 1	Conjugated hyperbilirubinemia, Increased serum bile acid concentration	OMIM:243300
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Hypercholesterolemia, Incr...	OMIM:620211
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Elevated circulating C-reactive protein concentration, Increased circulating ferrit...	OMIM:616050
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Abnormality of iron homeo...	ORPHA:848
Lymphoproliferative Syndrome 1	Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,...	OMIM:613011
Bleeding Disorder, Platelet-Type, 20	Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Thrombocytopenia	OMIM:613554
Lipoyltransferase 1 Deficiency	Hyperglutaminemia, Hyperprolinemia, Increased total bilirubin	OMIM:616299
Glycogen Storage Disease Xii	Normocytic anemia, Elevated circulating creatine kinase concentration, Splenomegaly, Normochromic...	OMIM:611881
Orthostatic Hypotension 2	Hypoglycemia, Anemia	OMIM:618182
Hypermethioninemia Due To Adenosine Kinase Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ...	OMIM:614300
Cholestasis, Progressive Familial Intrahepatic, 5	Conjugated hyperbilirubinemia, Hyperammonemia, Hypoglycemia, Elevated circulating alpha-fetoprote...	OMIM:617049
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Pituitary Hormone Deficiency, Combined, 6	Neonatal hypoglycemia, Hypoglycemia, Hyperbilirubinemia	OMIM:613986
Hyperinsulinemic Hypoglycemia, Familial, 2	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:601820
Combined Oxidative Phosphorylation Deficiency 41	Hypoglycemia, Elevated circulating creatine kinase concentration, Anemia	OMIM:618838
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, T...	OMIM:603553
Pyridoxal Phosphate-Responsive Seizures	Pyridoxine-responsive sideroblastic anemia, Hypoglycemia, Abnormal circulating glycine concentrat...	ORPHA:79096
Iron-Refractory Iron Deficiency Anemia	Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso...	OMIM:206200
3-Methylcrotonyl-Coa Carboxylase Deficiency	Abnormal circulating leucine concentration, Hypoglycemia, Hyperammonemia	ORPHA:6
Immunodeficiency 32B	Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Hypoalbumin...	OMIM:226990
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia	OMIM:240900
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Hypoalbuminemia...	OMIM:251880
Forsythe-Wakeling Syndrome	Thrombocytopenia	OMIM:613606
Wolcott-Rallison Syndrome	Hyponatremia, Neonatal insulin-dependent diabetes mellitus, Hyperammonemia, Iron deficiency anemi...	ORPHA:1667
Infantile Sialic Acid Storage Disease	Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated lymphocytes	OMIM:269920
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Anemia, Thrombocytopenia	OMIM:616435
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Hypermanganesemia With Dystonia 1	Hypermanganesemia, Polycythemia, Increased total iron binding capacity, Unconjugated hyperbilirub...	OMIM:613280
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:54057
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612924
Congenital Disorder Of Glycosylation, Type Iik	Elevated circulating creatine kinase concentration, Thrombocytopenia	OMIM:614727
Aicardi-Goutieres Syndrome 3	Thrombocytopenia, Hepatosplenomegaly	OMIM:610329
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia	OMIM:616738
Bile Acid Conjugation Defect 1	Conjugated hyperbilirubinemia	OMIM:619232
Ornithine Transcarbamylase Deficiency	Splenomegaly, Hypoglycemia, Hyperammonemia	ORPHA:664
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Pancytopenia, Diabetes mellitus, Hypomagnesemia, Thrombocytopenia, Leukopenia, Hype...	OMIM:613845
Preeclampsia	Type I diabetes mellitus, Elevated circulating creatinine concentration, Thrombocytopenia	ORPHA:275555
Diffuse Neonatal Hemangiomatosis	Thrombocytopenia, Hypercalcemia, Anemia	ORPHA:2123
Folate Malabsorption, Hereditary	Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:229050
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612926
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young	OMIM:609812
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin	OMIM:618528
Transcobalamin Deficiency	Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Aicardi-Goutieres Syndrome 6	Splenomegaly, Hemolytic anemia, Thrombocytopenia	OMIM:615010
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis	OMIM:300367
Bernard-Soulier Syndrome	Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopenia, Thrombo...	OMIM:231200
Immunodeficiency 46	Neutropenia, Anemia, Intermittent thrombocytopenia	OMIM:616740
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Hypoglycemic seizures, Hyperbilirubinemia	OMIM:609734
Hijazi-Reis Syndrome	Hyperbilirubinemia	OMIM:301094
Mixed-Type Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Increased total bilirubin	ORPHA:90036
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hypoglycemia, Hyperammonemia, Leukopenia, Hyperglycinemia, Neutropenia, T...	OMIM:251000
Bile Acid Synthesis Defect, Congenital, 2	Splenomegaly, Hyperbilirubinemia	OMIM:235555
Leishmaniasis	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Hypoalbuminemia, ...	ORPHA:507
Congenital Bile Acid Synthesis Defect Type 2	Conjugated hyperbilirubinemia, Extramedullary hematopoiesis, Hyperbilirubinemia, Abnormal serum b...	ORPHA:79303
Wt Limb-Blood Syndrome	Thrombocytopenia, Pancytopenia, Hypoplastic anemia, Leukemia	OMIM:194350
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti...	ORPHA:86839
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Reticulocytopenia, Hyperbilirubinemia, Neut...	OMIM:557000
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia	OMIM:314000
Drug-Induced Lupus Erythematosus	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:231111
Lymphoproliferative Syndrome, X-Linked, 1	Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentration, Splenomegal...	OMIM:308240
Vitamin B12-Unresponsive Methylmalonic Acidemia	Macrocytic anemia, Thrombocytopenia, Hyperammonemia, Leukopenia, Anemia	ORPHA:27
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Anemia, Thrombocytopenia, Hyperammonemia, Neutropenia	ORPHA:289916
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612925
Glycogen Storage Disease Ixa1	Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia	OMIM:306000
Phosphoglycerate Dehydrogenase Deficiency	Thrombocytopenia, Megaloblastic anemia	OMIM:601815
Autosomal Dominant Spastic Paraplegia Type 29	Hyperbilirubinemia	ORPHA:101009
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529808
Acute Bilirubin Encephalopathy	Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529799
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Hypoglycemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemi...	OMIM:617156
Fanconi-Bickel Syndrome	Hypouricemia, Hypophosphatemia, Glycosuria, Hypokalemia, Hypergalactosemia, Increased serum bile ...	OMIM:227810
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Hypoglycemia	OMIM:261650
Thiamine-Responsive Megaloblastic Anemia Syndrome	Diabetes mellitus, Thrombocytopenia, Megaloblastic anemia	ORPHA:49827
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Increased mean corpuscular ...	OMIM:617021
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Thrombocytopenia, Splenomegaly, Hyperammonemia, Neutropenia, Anemia	ORPHA:79312
Bachmann-Bupp Syndrome	Hypoglycemia, Hyperbilirubinemia	OMIM:619075
Systemic Lupus Erythematosus 17	Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia	OMIM:301080
Propionic Acidemia	Pancytopenia, Hypoglycemia, Thrombocytopenia, Hyperammonemia, Hyperglycinemia, Neutropenia, Anemia	OMIM:606054
Fructose-1,6-Bisphosphatase Deficiency	Hypoglycemia, Hyperuricemia, Fasting hypoglycemia, Hyperalaninemia, Neonatal hyperbilirubinemia, ...	ORPHA:348
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Hypomethioninemia, Hyperhomocystinemia, Normochromic anemia, Elevated cir...	OMIM:614857
Macrophage Activation Syndrome	Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin...	ORPHA:158061
Congenital Bile Acid Synthesis Defect Type 3	Hyperbilirubinemia, Hepatosplenomegaly	ORPHA:79302
Slc35A1-Cdg	Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia	ORPHA:238459
Bleeding Disorder, Platelet-Type, 21	Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre...	OMIM:617443
Combined Oxidative Phosphorylation Deficiency 34	Pancytopenia, Elevated circulating creatinine concentration, Hypoglycemia, Increased blood urea n...	OMIM:617872
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level	ORPHA:95715
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Diabetes mellitus, Thiamine-responsive megaloblastic anemia, Thrombocytopenia	OMIM:249270
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g...	OMIM:601399
Cholestasis, Benign Recurrent Intrahepatic, 2	Conjugated hyperbilirubinemia	OMIM:605479
Osteopetrosis, Autosomal Recessive 5	Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hypochr...	OMIM:259720
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Lymphopenia, Thrombocytopenia	OMIM:616744
Bone Marrow Failure Syndrome 4	Leukopenia, Thrombocytopenia, Anemia	OMIM:618116
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Insulin resistance, Hypoglycemia, Neonatal hyperbilirubinemia	ORPHA:73272
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Pancytopenia, Thrombocytopenia, Hyperammonemia, Hyperglycinemia, Neutrope...	OMIM:251110
Idiopathic Congenital Hypothyroidism	Neonatal hyperbilirubinemia	ORPHA:95717
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T...	OMIM:619802
Insulin-Resistance Syndrome Type B	Abnormal circulating fatty-acid concentration, Insulin resistance, Fasting hyperinsulinemia, Insu...	ORPHA:2298
Glycogen Storage Disease Ixb	Splenomegaly, Hypoglycemia, Hyperuricemia	OMIM:261750
Cholestasis, Progressive Familial Intrahepatic, 2	Conjugated hyperbilirubinemia, Splenomegaly	OMIM:601847
Acyl-Coa Dehydrogenase 9 Deficiency	Nonketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Hyperammonemia, Decrea...	ORPHA:99901
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
Rhabdoid Tumor	Thrombocytopenia, Hypercalcemia, Anemia	ORPHA:69077
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Thrombocytopenia, Anemia	OMIM:615085
Thyrocerebrorenal Syndrome	Thrombocytopenia	ORPHA:3327
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Increased circulating ferritin concentration, Thrombocytopenia, Hepatosplenomegaly	ORPHA:210136
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Leukopenia, Thrombocytopenia	OMIM:231095
Hermansky-Pudlak Syndrome 9	Leukopenia, Abnormal platelet aggregation, Thrombocytopenia	OMIM:614171
Non-Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141179
Bile Acid Synthesis Defect, Congenital, 4	Decreased serum bile acid concentration, Hyperbilirubinemia	OMIM:214950
Propionic Acidemia	Hypoglycemia, Hyperammonemia	ORPHA:35
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym...	ORPHA:447
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Increased serum bile acid concentration, Hyperbilirubinemia	OMIM:619685
Platelet Disorder, Undefined	Impaired platelet aggregation, Thrombocytopenia	OMIM:173420
Mitchell-Riley Syndrome	Hyperglycemia, Diabetes mellitus, Hyperbilirubinemia	OMIM:615710
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia	OMIM:618849
Omenn Syndrome	Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,...	OMIM:603554
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Thrombocytopenia	ORPHA:88
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc...	ORPHA:90038
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio...	OMIM:153670
Cholestasis, Progressive Familial Intrahepatic, 6	Conjugated hyperbilirubinemia	OMIM:619484
Cholestasis, Progressive Familial Intrahepatic, 1	Conjugated hyperbilirubinemia, Splenomegaly	OMIM:211600
Amed Syndrome, Digenic	Acute myeloid leukemia, Leukopenia, Thrombocytopenia, Anemia	OMIM:619151
Liver Failure, Infantile, Transient	Hypoalbuminemia, Hyperbilirubinemia	OMIM:613070
Mody	Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu...	ORPHA:552
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia	ORPHA:234
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Nonketotic hypoglycemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Elevat...	OMIM:608836
Stormorken Syndrome	Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Thrombocytopen...	OMIM:185070
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Type I diabetes mellitus, Thrombocytopenia, Lymphopenia, Anemia	OMIM:620365
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoglycemia, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc, Hypoalbuminemia	OMIM:617093
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic anemia, Neutropenia,...	OMIM:304790
Bleeding Disorder, Platelet-Type, 17	Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll...	OMIM:187900
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia	OMIM:611490
Aicardi-Goutieres Syndrome 4	Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly	OMIM:610333
Intermediate Osteopetrosis	Thrombocytopenia, Hypocalcemia, Anemia, Hepatosplenomegaly	ORPHA:210110
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Hypoglycemia, Hyperammonemia, Hype...	ORPHA:3008
Wilson Disease	Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Thrombocytopen...	OMIM:277900
Bile Acid Synthesis Defect, Congenital, 1	Conjugated hyperbilirubinemia, Splenomegaly, Hypocholesterolemia	OMIM:607765
Cholestasis, Progressive Familial Intrahepatic, 8	Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce...	OMIM:619662
Congenital Toxoplasmosis	Thrombocytopenia, Anemia	ORPHA:858
Rapidly Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141184
Thrombocytopenia, Paris-Trousseau Type	Thrombocytopenia	OMIM:188025
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M...	OMIM:235400
Familial Thyroid Dyshormonogenesis	Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia	ORPHA:95716
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Conjugated hyperbilirubinemia, Splenomegaly, Hyperkalemia, Stomatocytosis	OMIM:608885
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean...	OMIM:618278
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, B lymphocytopenia...	OMIM:618048
Babesiosis	Splenomegaly, Leukopenia, Hemolytic anemia, Thrombocytopenia	ORPHA:108
Primary Myelofibrosis	Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatos...	ORPHA:824
Isovaleric Acidemia	Leukopenia, Pancytopenia, Thrombocytopenia	OMIM:243500
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Type I diabetes m...	OMIM:301078
Congenital Rubella Syndrome	Splenomegaly, Thrombocytopenia, Anemia, Type I diabetes mellitus	ORPHA:290
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes mellitus, Anemia of inadequate ...	ORPHA:231222
Stuve-Wiedemann Syndrome 2	Thrombocytopenia	OMIM:619751
Isolated Agammaglobulinemia	Anemia, Thrombocytopenia, Abnormal lymphocyte morphology, Abnormality of neutrophils	ORPHA:229717
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Schistocytosis, Elevated circulating creatinine concentration, Microangiopathic ...	OMIM:274150
Hemochromatosis, Neonatal	Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia, Abnormality of ...	OMIM:231100
Gaucher Disease, Type Iii	Splenomegaly, Pancytopenia, Thrombocytopenia	OMIM:231000
Pseudo-Torch Syndrome 3	Increased circulating ferritin concentration, Leukocytosis, Congenital thrombocytopenia, Anemia	OMIM:618886
Thyrocerebroretinal Syndrome	Thrombocytopenia	OMIM:274240
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Conjugated hyperbilirubinemia, Thrombocytopenia	OMIM:208085
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Methylmalonic acidemia, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Hyperhomocystinemia...	OMIM:277380
Systemic Lupus Erythematosus	Hemolytic anemia, Thrombocytopenia, Leukopenia	OMIM:152700
Noonan Syndrome 12	Lymphopenia, Thrombocytopenia	OMIM:618624
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Reticulocytosis, Acanthocytosis, Decreased LDL cholester...	ORPHA:14
Combined Oxidative Phosphorylation Deficiency 40	Hypoglycemia, Elevated circulating creatine kinase concentration, Anemia	OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42	Hypoglycemia, Elevated circulating creatine kinase concentration, Anemia	OMIM:618839
Atelis Syndrome 1	Leukopenia, Thrombocytopenia, Anemia	OMIM:620184
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p...	OMIM:603909
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia	OMIM:613839
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated circulating long chain fatty acid concentration, Hyperbilirubinemia	OMIM:614886
Lathosterolosis	Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Hepatospleno...	OMIM:607330
Specific Granule Deficiency 2	Absent neutrophil specific granules, Thrombocytopenia, Anemia, Neutropenia	OMIM:617475
Necrotizing Enterocolitis	Hyponatremia, Leukocytosis, Abnormal glucose homeostasis, Neutropenia, Hyperglycemia, Thrombocyto...	ORPHA:391673
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia	OMIM:603585
Hemophagocytic Syndrome Associated With An Infection	Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni...	ORPHA:158048
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Conjugated hyperbilirubinemia, Glycosuria	OMIM:613404
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, B lymphocytopenia, Neutropenia	OMIM:150550
Quebec Platelet Disorder	Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Tufted Angioma	Anemia, Thrombocytopenia	ORPHA:1063
Bile Acid Synthesis Defect, Congenital, 3	Splenomegaly, Hyperbilirubinemia	OMIM:613812
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Abnorma...	ORPHA:100026
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:616576
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Monocyto...	OMIM:619644
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Pancytopenia, Thrombocytopenia, Hyperammonemia, Hyperglycinemia, Neutrope...	OMIM:251100
Myh9-Related Disease	Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele...	ORPHA:182050
Congenital Enterovirus Infection	Abnormal macrophage morphology, Thrombocytopenia, Leukocytosis, Hyperammonemia, Leukopenia, Hypoa...	ORPHA:292
Congenital Disorder Of Glycosylation, Type Ih	Thrombocytopenia, Elevated circulating creatinine concentration, Hypoalbuminemia, Anemia	OMIM:608104
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated circulating creatinine concentration, Hyperbilirubinemia	ORPHA:542323
Moyamoya Disease 6 With Or Without Achalasia	Thrombocytopenia	OMIM:615750
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ...	OMIM:139090
Caroli Syndrome	Conjugated hyperbilirubinemia, Hypersplenism, Leukocytosis, Leukopenia, Hyperbilirubinemia, Throm...	ORPHA:480520
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti...	OMIM:262190
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Anisocytosis, Abnormal circulating porphyrin concentration, Sp...	ORPHA:79277
Overlap Myositis	Diabetes mellitus, Elevated circulating creatine kinase concentration, Leukopenia, Abnormal circu...	ORPHA:206572
Acquired Purpura Fulminans	Thrombocytopenia, Elevated circulating C-reactive protein concentration	ORPHA:49566
Cholesteryl Ester Storage Disease	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplen...	OMIM:278000
Vexas Syndrome	Thrombocytopenia, Macrocytic anemia, Elevated circulating C-reactive protein concentration	OMIM:301054
Aicardi-Goutieres Syndrome 5	Thrombocytopenia	OMIM:612952
Spastic Paraplegia 29, Autosomal Dominant	Neonatal hyperbilirubinemia	OMIM:609727
Dengue Fever	Leukopenia, Hypoproteinemia, Thrombocytopenia	ORPHA:99828
Cog4-Cdg	Hypercholesterolemia, Thrombocytopenia, Hepatosplenomegaly	ORPHA:263501
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Increased circulating ferritin concentration, Hypochromic microcytic anemia, Thrombocytopenia	ORPHA:3240
Wolfram Syndrome 1	Sideroblastic anemia, Diabetes mellitus, Thrombocytopenia, Megaloblastic anemia	OMIM:222300
Aggressive Systemic Mastocytosis	Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Increased propor...	ORPHA:98850
Graft Versus Host Disease	Hemophagocytosis, Hyperbilirubinemia, Hepatosplenomegaly	ORPHA:39812
Intrahepatic Cholestasis Of Pregnancy	Increased serum bile acid concentration, Hyperbilirubinemia	ORPHA:69665
Pelger-Huet Anomaly	Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ...	OMIM:169400
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p...	ORPHA:101096
Immune Thrombocytopenia	Thrombocytopenia	ORPHA:3002
Familial Hemophagocytic Lymphohistiocytosis	Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopenia, Splenomegal...	ORPHA:540
Sea-Blue Histiocytosis	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	ORPHA:158029
Immunodeficiency 10	Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:612783
Mirage Syndrome	Hyponatremia, Hypoglycemia, Thrombocytopenia, Hyperkalemia, Leukopenia, Hypoplastic spleen, Lymph...	OMIM:617053
Hereditary Cryohydrocytosis With Reduced Stomatin	Conjugated hyperbilirubinemia, Spontaneous hemolytic crises, Stomatocytosis, Hepatosplenomegaly	ORPHA:168577
Cystic Echinococcosis	Eosinophilia, Hyperbilirubinemia, Splenic cyst	ORPHA:400
Diffuse Alveolar Hemorrhage	Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Anemia	ORPHA:90060
Griscelli Syndrome	Abnormality of neutrophils, Splenomegaly, Leukopenia, Abnormal circulating lipid concentration, T...	ORPHA:381
Neonatal Lupus Erythematosus	Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia	ORPHA:398124
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Normochromic anemia, Elevated circulating creatine kinase concentration, Thrombocytopenia	OMIM:618775
Braddock-Carey Syndrome 2	Thrombocytopenia	OMIM:619981
Agammaglobulinemia 9, Autosomal Recessive	Thrombocytopenia, Absent circulating B cells	OMIM:619693
Holocarboxylase Synthetase Deficiency	Thrombocytopenia, Hyperammonemia	ORPHA:79242
Glycogen Storage Disease Ixc	Splenomegaly, Hypertriglyceridemia, Hypoglycemia, Fasting hypoglycemia	OMIM:613027
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Anemia, Thrombocytopenia, Hypocalcemia, Hyperbilirubinemia	ORPHA:163979
Deafness-Lymphedema-Leukemia Syndrome	Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloproliferative disorde...	ORPHA:3226
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hypoglycemia, Thrombocytopenia	OMIM:611126
X-Linked Agammaglobulinemia	Thrombocytopenia, Hypocalcemia, Anemia, Neutropenia	ORPHA:47
Letterer-Siwe Disease	Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly	OMIM:246400
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli...	ORPHA:231226
Mevalonic Aciduria	Normocytic hypoplastic anemia, Elevated circulating creatine kinase concentration, Elevated circu...	OMIM:610377
Avian Influenza	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:454836
Distal Xq28 Microduplication Syndrome	Neonatal hyperbilirubinemia	ORPHA:293939
Sengers Syndrome	Thrombocytopenia	OMIM:212350
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:259710
Stt3B-Cdg	Thrombocytopenia	ORPHA:370924
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Hypoglycemia, Thrombocytopenia	OMIM:617710
Fumarase Deficiency	Polycythemia, Hyperbilirubinemia	OMIM:606812
Polyendocrine-Polyneuropathy Syndrome	Type I diabetes mellitus, Hypoglycemia, Elevated hemoglobin A1c	OMIM:616113
Tularemia	Thrombocytopenia, Leukocytosis, Anemia	ORPHA:3392
Beta-Thalassemia Major	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli...	ORPHA:231214
Combined Oxidative Phosphorylation Deficiency 55	Elevated circulating creatine kinase concentration, Hypomagnesemia, Thrombocytopenia, Hypophospha...	OMIM:619743
Congenital Disorder Of Glycosylation, Type Ix	Thrombocytopenia	OMIM:615597
Osteopetrosis, Autosomal Recessive 1	Pancytopenia, Splenomegaly, Anemia, Hypocalcemia, Thrombocytopenia	OMIM:259700
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Thrombocytopenia, Hyperbilirubinemia	ORPHA:464321
Shwachman-Diamond Syndrome	Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane...	ORPHA:811
Fetal Gaucher Disease	Splenomegaly, Abnormality of the spleen, Pancytopenia, Thrombocytopenia	ORPHA:85212
Peroxisome Biogenesis Disorder 13A (Zellweger)	Conjugated hyperbilirubinemia, Increased circulating very long-chain fatty acid concentration	OMIM:614887
Fructose Intolerance, Hereditary	Hypoglycemia, Bicarbonaturia, Hypophosphatemia, Hyperuricemia, Hyperbilirubinemia, Glycosuria	OMIM:229600
Congenital Disorder Of Glycosylation, Type Iil	Splenomegaly, Pancytopenia, Elevated circulating creatine kinase concentration, Thrombocytopenia	OMIM:614576
Autoimmune Hepatitis	Splenomegaly, Increased total bilirubin	ORPHA:2137
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia, Leukocytosis, Thrombocytopenia	ORPHA:83601
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia	ORPHA:90045
Dyskeratosis Congenita, Autosomal Recessive 2	Pancytopenia, Thrombocytopenia	OMIM:613987
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia	OMIM:605432
Smith-Kingsmore Syndrome	Hypoglycemia, Thrombocytopenia	OMIM:616638
Good Syndrome	Abnormal leukocyte morphology, Thrombocytopenia, Diabetes mellitus, Anemia	ORPHA:169105
Snakebite Envenomation	Hyponatremia, Thrombocytopenia	ORPHA:449285
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp...	ORPHA:331206
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Thrombocytopenia	OMIM:616577
Gaucher Disease, Type I	Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:230800
Alg8-Cdg	Hyponatremia, Thrombocytopenia, Anemia	ORPHA:79325
Portal Hypertension, Noncirrhotic, 2	Splenomegaly, Thrombocytopenia	OMIM:619463
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple...	OMIM:614700
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:612561
Caroli Disease	Conjugated hyperbilirubinemia, Splenomegaly, Leukocytosis, Abnormal circulating alpha-fetoprotein...	ORPHA:53035
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Cystathioni...	OMIM:277400
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Thrombocytopenia, Anemia, Neutropenia	OMIM:614520
Lig4 Syndrome	Acute lymphoblastic leukemia, Pancytopenia, Type II diabetes mellitus, Thrombocytopenia	OMIM:606593
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia, Splenomegaly, Anemia, Lymphopenia, Thrombocytopenia	OMIM:617591
Von Willebrand Disease, Type 3	Impaired platelet aggregation, Thrombocytopenia	OMIM:277480
Lissencephaly Due To Lis1 Mutation	Neonatal hyperbilirubinemia	ORPHA:95232
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hypoglycemia, Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoorni...	OMIM:615751
Parenteral Nutrition-Associated Cholestasis	Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Abnormal circulating fatty-acid conc...	ORPHA:567983
Hypothyroidism Due To Tsh Receptor Mutations	Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia	ORPHA:90673
Acute Promyelocytic Leukemia	Pancytopenia, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia	ORPHA:520
Hermansky-Pudlak Syndrome 5	Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia	OMIM:614074
Liver Disease, Severe Congenital	Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti...	OMIM:619991
Thrombocytopenia 6	Thrombocytopenia	OMIM:616937
Yellow Fever	Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosis, Elevated circulat...	ORPHA:99829
Transaldolase Deficiency	Pancytopenia, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:606003
Combined Oxidative Phosphorylation Deficiency 14	Thrombocytopenia, Anemia, Elevated hepatic iron concentration	OMIM:614946
Reynolds Syndrome	Calcinosis, Splenomegaly, Lymphopenia, Hyperbilirubinemia	OMIM:613471
Lysinuric Protein Intolerance	Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole...	ORPHA:470
Rajab Interstitial Lung Disease With Brain Calcifications 1	Pancytopenia, Hypoglycemia, Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia, Anemia	OMIM:613658
Lysinuric Protein Intolerance	Hypolysinemia, Increased circulating ferritin concentration, Thrombocytopenia, Splenomegaly, Intr...	OMIM:222700
Mucopolysaccharidosis-Plus Syndrome	Splenomegaly, Anemia, Leukopenia, Hypoalbuminemia, Neutropenia, Thrombocytopenia	OMIM:617303
Felty Syndrome	Splenomegaly, Anemia, Neutropenia, Abnormal lymphocyte morphology, Thrombocytopenia	ORPHA:47612
Chédiak-Higashi Syndrome	Hyponatremia, Abnormal leukocyte morphology, Pancytopenia, Hypertriglyceridemia, Increased circul...	ORPHA:167
Senior-Boichis Syndrome	Hepatosplenomegaly, Anemia, Increased total bilirubin	ORPHA:84081
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Thrombocytopenia, Splenomegaly, Neutropenia, Leukopeni...	OMIM:214500
Blue Rubber Bleb Nevus	Iron deficiency anemia, Thrombocytopenia	OMIM:112200
Schimke Immuno-Osseous Dysplasia	Thrombocytopenia, Hyperlipidemia, Decreased proportion of naive CD8 T cells, Abnormal proportion ...	ORPHA:1830
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Leukopenia, Elevated circulating creatine kinase concentration, Thrombocytopenia	OMIM:301056
Shigellosis	Hyponatremia, Hypoglycemia, Leukocytosis, Abnormal blood ion concentration, Microangiopathic hemo...	ORPHA:810
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy...	OMIM:260400
Ogden Syndrome	Maternal diabetes, Iron deficiency anemia, Hyperbilirubinemia, Polycythemia, Thrombocytopenia	OMIM:300855
Prolidase Deficiency	Splenomegaly, Thrombocytopenia, Anemia	OMIM:170100
Holocarboxylase Synthetase Deficiency	Thrombocytopenia, Hyperammonemia	OMIM:253270
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Normochromic anemia, Hypoalbuminemia, Thrombocytopenia	OMIM:254900
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Hypoglycemia, Megaloblastic anemia, Hyperammonemia, El...	ORPHA:79282
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Microcytic anemia	ORPHA:98791
Thrombocytopenia 1	Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia	OMIM:313900
Peroxisome Biogenesis Disorder 5A (Zellweger)	Conjugated hyperbilirubinemia, Splenomegaly, Elevated circulating phytanic acid concentration, He...	OMIM:614866
Beemer-Ertbruggen Syndrome	Thrombocytopenia	ORPHA:1237
Isolated Thyroid-Stimulating Hormone Deficiency	Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia	ORPHA:90674
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi...	OMIM:617052
Castleman Disease	Anemia, Decreased mean corpuscular volume, Thrombocytopenia, Elevated circulating C-reactive prot...	ORPHA:160
Primary Biliary Cholangitis	Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia	ORPHA:186
Boutonneuse Fever	Leukopenia, Thrombocytopenia	ORPHA:83313
Mirizzi Syndrome	Hyperbilirubinemia	ORPHA:521219
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abnormal natural killer cell count, He...	ORPHA:79124
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin	ORPHA:423479
3-Methylglutaconic Aciduria, Type Viib	Leukopenia, Neonatal hypoglycemia, Thrombocytopenia, Neutropenia	OMIM:616271
Sepsis In Premature Infants	Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytosis, Splenomega...	ORPHA:90051
Wilson Disease	Splenomegaly, Thrombocytopenia, Anemia	ORPHA:905
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Thrombocytopenia, Anemia	ORPHA:3322
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp...	ORPHA:94093
Braddock-Carey Syndrome 1	Thrombocytopenia	OMIM:619980
Combined Immunodeficiency Due To Crac Channel Dysfunction	Splenomegaly, Hemolytic anemia, Thrombocytopenia	ORPHA:169090
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Leukopenia, Neutropenia, Thrombocytopenia	OMIM:613989
Fanconi Anemia, Complementation Group E	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:600901
Schimke Immunoosseous Dysplasia	Pancytopenia, Abnormal T cell morphology, Anemia, Neutropenia, Lymphopenia, Thrombocytopenia	OMIM:242900
Gaucher Disease Type 1	Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Leukopenia, Thrombocytopenia	ORPHA:77259
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten...	ORPHA:124
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thrombocytop...	OMIM:127550
Cyclic Neutropenia	Decreased eosinophil count, Lymphopenia, Cyclic neutropenia, Thrombocytopenia	ORPHA:2686
Tangier Disease	Hypertriglyceridemia, Hepatosplenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia	ORPHA:31150
Bacterial Toxic-Shock Syndrome	Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration...	ORPHA:36234
Zika Virus Disease	Thrombocytopenia	ORPHA:448237
Isolated Biliary Atresia	Conjugated hyperbilirubinemia, Splenomegaly	ORPHA:30391
Degcags Syndrome	Pancytopenia, Congenital hypoplastic anemia, Hepatosplenomegaly, Leukopenia, Iron deficiency anem...	OMIM:619488
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Thrombocytopenia, Lymphocytosis, Elevated circulating C-reactive protein concentration, Decreased...	OMIM:617718
Hermansky-Pudlak Syndrome 2	Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Impaired ADP-induced plate...	OMIM:608233
Fanconi Anemia, Complementation Group A	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:227650
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Neutropenia, Lymphopenia, Anemia	ORPHA:508542
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An...	ORPHA:2330
Hardikar Syndrome	Hypersplenism, Splenomegaly, Hepatosplenomegaly, Hyperbilirubinemia, Thrombocytopenia	OMIM:301068
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Hypothyroidism, Congenital, Nongoitrous, 2	Increased circulating thyroglobulin level, Hyperbilirubinemia	OMIM:218700
Acute Radiation Syndrome	Lymphopenia, Granulocytopenia, Thrombocytopenia	ORPHA:454831
Immunodeficiency 22	Decreased proportion of CD4-positive helper T cells, Thrombocytopenia, Anemia	OMIM:615758
Immunodeficiency 40	T lymphocytopenia, Thrombocytopenia	OMIM:616433
Congenital Disorder Of Glycosylation, Type Iig	Thrombocytopenia, Giant platelets, Anemia	OMIM:611209
Maternal Uniparental Disomy Of Chromosome 6	Thrombocytopenia	ORPHA:96181
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Intermittent thrombocytopenia, Erythroid hypoplasia, Thrombocytopenia, Splenomegaly, Hepatospleno...	OMIM:612541
X-Linked Intellectual Disability, Nascimento Type	Neonatal hyperbilirubinemia, Neutropenia	ORPHA:163956
Pediatric Systemic Lupus Erythematosus	Leukopenia, Lymphopenia, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:93552
Cranioectodermal Dysplasia 2	Splenomegaly, Polysplenia, Hyperbilirubinemia	OMIM:613610
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Hyperbilirubinemia	ORPHA:562639
Alg12-Cdg	Hyponatremia, Recurrent hypoglycemia, B lymphocytopenia, Hypoalbuminemia, Hypocholesterolemia, Th...	ORPHA:79324
Pearson Syndrome	Reticulocytosis, Pancytopenia, Diabetes mellitus, Hypomagnesemia, Thrombocytopenia, Splenomegaly,...	ORPHA:699
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Dyskeratosis Congenita, Autosomal Dominant 3	Leukopenia, Pancytopenia, Aplastic anemia, Thrombocytopenia	OMIM:613990
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Immunodeficiency With Hyper-Igm, Type 1	Splenomegaly, Hemolytic anemia, Thrombocytopenia, Neutropenia	OMIM:308230
Lead Poisoning	Decreased HDL cholesterol concentration, Imbalanced hemoglobin synthesis, Abnormal T cell morphol...	ORPHA:330015
Catastrophic Antiphospholipid Syndrome	Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:464343
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	High nonceruloplasmin-bound serum copper, Thrombocytopenia	ORPHA:457351
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Decreased circulating copper concentration, Splenomegaly, Le...	OMIM:300972
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Thrombocytopenia	OMIM:224230
Fanconi Anemia, Complementation Group C	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:227645
Pseudo-Torch Syndrome 1	Splenomegaly, Thrombocytopenia	OMIM:251290
Pediatric-Onset Graves Disease	Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Thrombocytopenia	ORPHA:525731
Pseudo-Torch Syndrome 2	Thrombocytopenia	OMIM:617397
Recon Progeroid Syndrome	Thrombocytopenia, Anemia	OMIM:620370
Wars2-Related Combined Oxidative Phosphorylation Defect	Neonatal hypoglycemia, Thrombocytopenia	ORPHA:572798
Marburg Hemorrhagic Fever	Reticulocytosis, Lymphopenia, Hypoglycemia, Elevated circulating creatine kinase concentration, H...	ORPHA:99826
Hellp Syndrome	Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Microangiopathic hemolytic...	ORPHA:244242
Diamond-Blackfan Anemia 21	Erythroid hypoplasia, Thrombocytopenia, Anemia	OMIM:620072
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Hyperbilirubinemia	OMIM:619475
Ebola Hemorrhagic Fever	Leukopenia, Lymphopenia, Thrombocytopenia	ORPHA:319218
Neurooculorenal Syndrome	Conjugated hyperbilirubinemia, Recurrent hypoglycemia	OMIM:620305
Lujo Hemorrhagic Fever	Elevated circulating C-reactive protein concentration, Leukocytosis, Leukopenia, Lymphopenia, Thr...	ORPHA:319213
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le...	ORPHA:906
Aicardi-Goutieres Syndrome 1	Splenomegaly, Thrombocytopenia	OMIM:225750
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop...	ORPHA:391487
Thymoma	Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis	ORPHA:99867
Atelis Syndrome 2	Thrombocytopenia, Hyperinsulinemia, Anemia	OMIM:620185
Noonan Syndrome 4	Thrombocytopenia	OMIM:610733
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Gaucher Disease, Perinatal Lethal	Splenomegaly, Thrombocytopenia, Anemia, Hepatosplenomegaly	OMIM:608013
Shwachman-Diamond Syndrome 2	Normocytic anemia, Thrombocytopenia, Neutropenia	OMIM:617941
Fanconi Anemia, Complementation Group B	Aplastic anemia, Thrombocytopenia	OMIM:300514
Fanconi Anemia, Complementation Group F	Leukopenia, Thrombocytopenia, Anemia	OMIM:603467
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Elevated circulating creatine kinase concentration, Anemia, Leukopenia, Elliptocyto...	ORPHA:2785
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Conjugated hyperbilirubinemia	OMIM:208500
Ivic Syndrome	Leukocytosis, Thrombocytopenia	ORPHA:2307
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hepatosplenomegaly, Anemia, Leukopenia, Hypoalbuminemia, Thrombocytopenia	ORPHA:505248
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Hypertriglyceridemia...	OMIM:619573
Adams-Oliver Syndrome	Leukopenia, Thrombocytopenia	ORPHA:974
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:619769
Kaposiform Lymphangiomatosis	Splenomegaly, Hepatosplenomegaly, Anemia, Abnormal spleen morphology, Thrombocytopenia	ORPHA:464329
Farber Disease	Thrombocytopenia, Anemia, Hepatosplenomegaly	ORPHA:333
Gaucher Disease, Type Ii	Splenomegaly, Thrombocytopenia, Anemia	OMIM:230900
Takenouchi-Kosaki Syndrome	Thrombocytopenia, Increased mean platelet volume	OMIM:616737
Porphyria, Congenital Erythropoietic	Elevated circulating uroporphyrin concentration, Hemolytic anemia, Thrombocytopenia, Splenomegaly	OMIM:263700
Lathosterolosis	Thrombocytopenia, Anisopoikilocytosis, Abnormal platelet morphology	ORPHA:46059
21Q22.11Q22.12 Microdeletion Syndrome	Thrombocytopenia, Anemia	ORPHA:261323
Fetal And Neonatal Alloimmune Thrombocytopenia	Neonatal alloimmune thrombocytopenia	ORPHA:853
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemolytic anemia, Diabetes mellitus, Leukocytosis, Hyperkalemia, Hypocalcemia, Thro...	ORPHA:544482
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Increased circulating ferritin concentration, Splenomegaly, Anemi...	OMIM:615846
Fanconi Anemia, Complementation Group D2	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:227646
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Aplasia of the thymus, Unconjugated hyperbilirubinemia	OMIM:620186
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Thrombocytopenia	OMIM:612394
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Autoimmune thrombocytopenia, Hyper...	ORPHA:77293
Tick-Borne Encephalitis	Thrombocytopenia, Leukopenia, Leukocytosis, Elevated circulating C-reactive protein concentration	ORPHA:297
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hyperbilirubinemia	OMIM:210710
Biliary, Renal, Neurologic, And Skeletal Syndrome	Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Splenomegaly, Elevat...	OMIM:619534
Dyskeratosis Congenita	Diabetes mellitus, Abnormality of neutrophils, Thrombocytopenia, Splenomegaly, Anemia	ORPHA:1775
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormal hemoglobin, Anemia	ORPHA:847
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Thrombocytopenia, Anemia	OMIM:612199
Deeah Syndrome	Decreased hemoglobin concentration, Neonatal hypoglycemia, Thrombocytopenia	OMIM:619004
Ivic Syndrome	Leukocytosis, Thrombocytopenia	OMIM:147750
Mogs-Cdg	Thrombocytopenia, Hepatosplenomegaly	ORPHA:79330
Kikuchi-Fujimoto Disease	Elevated circulating C-reactive protein concentration, Thrombocytopenia, Splenomegaly, Leukopenia...	ORPHA:50918
Gaucher Disease Type 3	Splenomegaly, Thrombocytopenia, Pancytopenia, Anemia	ORPHA:77261
Thrombocytopenia-Absent Radius Syndrome	Thrombocytopenia	ORPHA:3320
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:301040
Stevens-Johnson Syndrome	Anemia, Thrombocytopenia, Abnormality of neutrophils	ORPHA:36426
Q Fever	Splenomegaly, Thrombocytopenia, Anemia, Hepatosplenomegaly	ORPHA:781
Idiopathic Hypereosinophilic Syndrome	Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Mye...	ORPHA:3260
Brucellosis	Elevated circulating C-reactive protein concentration, Hypersplenism, Thrombocytopenia, Leukocyto...	ORPHA:1304
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Thrombocytopenia	OMIM:619005
Dubowitz Syndrome	Acute lymphoblastic leukemia, Thrombocytopenia, Anemia, Abnormality of neutrophils	ORPHA:235
Hemorrhagic Fever-Renal Syndrome	Thrombocytopenia, Leukocytosis, Hyperkalemia, Elevated circulating creatinine concentration, Hype...	ORPHA:340
Toxic Epidermal Necrolysis	Thrombocytopenia, Anemia, Neutropenia	ORPHA:537
Exercise-Induced Malignant Hyperthermia	Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia...	ORPHA:466650
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Impaired glucose tolerance, Elevat...	OMIM:256040
Nijmegen Breakage Syndrome	T lymphocytopenia, Autoimmune hemolytic anemia, B lymphocytopenia, Thrombocytopenia	OMIM:251260
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Severe B lymphocytopenia, Anemia, Lymphopenia, Thrombocytopenia	OMIM:620005
Alport Syndrome 1, X-Linked	Thrombocytopenia	OMIM:301050
Rift Valley Fever	Thrombocytopenia, Anemia	ORPHA:319251
Nijmegen Breakage Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Thrombocytopenia, Acute leukemia	ORPHA:647
Fibular Hemimelia	Thrombocytopenia	ORPHA:93323
Gaucher Disease	Pancytopenia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Splenomega...	ORPHA:355
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Hypoammonemia, Anemia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia, Thrombo...	ORPHA:534
Congenital Disorder Of Glycosylation, Type Iim	Neonatal hyperbilirubinemia	OMIM:300896
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Splenomegaly, Thrombocytopenia	OMIM:301072
Thrombocytopenia-Absent Radius Syndrome	Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:274000
Acute Liver Failure	Thrombocytopenia, Hypoglycemia, Hyperammonemia	ORPHA:90062
Autosomal Recessive Polycystic Kidney Disease	Hyponatremia, Hypersplenism, Splenomegaly, Hepatosplenomegaly, Increased serum bile acid concentr...	ORPHA:731
Congenital Disorder Of Glycosylation, Type Iiw	Microcytic anemia, Splenomegaly, Anemia, Type I diabetes mellitus, Thrombocytopenia	OMIM:619525
Cornelia De Lange Syndrome 1	Thrombocytopenia	OMIM:122470
Crimean-Congo Hemorrhagic Fever	Pancytopenia, Neutrophilia, Elevated circulating creatine kinase concentration, Splenomegaly, Leu...	ORPHA:99827
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Thrombocytopenia, Increased mean platelet volume	ORPHA:487796
Systemic Lupus Erythematosus	Leukopenia, Hemolytic anemia, Thrombocytopenia	ORPHA:536
Jacobsen Syndrome	Thrombocytopenia	OMIM:147791
Primary Sjögren Syndrome	Normocytic anemia, Leukopenia, Normochromic anemia, Decreased proportion of CD4-positive helper T...	ORPHA:289390
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Pancytopenia, Anemia, Leukopenia, Thrombocytopenia	OMIM:305000
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pancytopenia, Abnormality of the spleen, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia	ORPHA:2072
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Leukopenia, Anemia, Thrombocytopenia	ORPHA:84
22Q11.2 Deletion Syndrome	Abnormality of thrombocytes, Splenomegaly, Hypoplasia of the thymus, Hypocalcemia, Thrombocytopenia	ORPHA:567
Johanson-Blizzard Syndrome	Diabetes mellitus, Increased VLDL cholesterol concentration, Conjugated hyperbilirubinemia, Splen...	OMIM:243800
Jacobsen Syndrome	Thrombocytopenia	ORPHA:2308
Aicardi-Goutières Syndrome	Diabetes mellitus, Neonatal alloimmune thrombocytopenia, Chronic lymphatic leukemia, Hepatospleno...	ORPHA:51
Sarcoidosis	Hemolytic anemia, Hypercalcemia, Eosinophilia, Thrombocytopenia, Increased T cell count, Leukopen...	ORPHA:797
Roberts Syndrome	Thrombocytopenia	ORPHA:3103
Leptospirosis	Hyperproteinemia, Thrombocytopenia	ORPHA:509
Digeorge Syndrome	Splenomegaly, Anemia, Hypoplasia of the thymus, Hypocalcemia, Thrombocytopenia	OMIM:188400
Osteogenesis Imperfecta	Thrombocytopenia	ORPHA:666
Igg4-Related Dacryoadenitis And Sialadenitis	Thrombocytopenia	ORPHA:79078
Noonan Syndrome 1	Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia	OMIM:163950

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 Golt1a

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 Golt1a.

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

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Golt1a^{tm1b(KOMP)Wtsi}	PMC7263671

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Golt1a^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Golt1a^{tm1b(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice
Golt1a^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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