EPO - erythropoietin Gene

Also Known as EP; DBAL; ECYT5; MVCD2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 2056

About EPO

Cytogenetic location: 7q22.1 Genomic coordinates (GRCh38): 7:100,720,468-100,723,700 (from NCBI)

This gene has 1 transcript (splice variant), 193 orthologues and is associated with 4 phenotypes. Biased expression in liver (RPKM 1.5), endometrium (RPKM 0.5) and 6 other tissues.

Summary

This gene encodes a secreted, glycosylated cytokine composed of four alpha helical bundles. The encoded protein is mainly synthesized in the kidney, secreted into the blood plasma, and binds to the erythropoietin receptor to promote red blood cell production, or erythropoiesis, in the bone marrow. Expression of this gene is upregulated under hypoxic conditions, in turn leading to increased erythropoiesis and enhanced oxygen-carrying capacity of the blood. Expression of this gene has also been observed in brain and in the eye, and elevated expression levels have been observed in diabetic retinopathy and ocular hypertension. Recombinant forms of the encoded protein exhibit neuroprotective activity against a variety of potential brain injuries, as well as antiapoptotic functions in several tissue types, and have been used in the treatment of anemia and to enhance the efficacy of Cancer therapies. [provided by RefSeq, Aug 2017]

EPO Products (1)

mRNA Protein Name
NM_000799.4 NP_000790.2 erythropoietin precursor
Molecular Function GO Annotation Evidence References Source
enables cytokine activity IDA
IDA: Inferred from direct assay
9774108 GOA
enables erythropoietin receptor binding IMP
IMP: Inferred from mutant phenotype
28283061 GOA
enables hormone activity IDA
IDA: Inferred from direct assay
9722506 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
9774108 GOA
Biological Process GO Annotation Evidence References Source
involved in cell surface receptor signaling pathway via STAT IDA
IDA: Inferred from direct assay
9722506 GOA
involved in cellular hyperosmotic response IDA
IDA: Inferred from direct assay
14569084 GOA
involved in erythrocyte differentiation IDA
IDA: Inferred from direct assay
15084469 GOA
involved in erythrocyte differentiation IMP
IMP: Inferred from mutant phenotype
28283061 GOA
involved in erythropoietin-mediated signaling pathway IDA
IDA: Inferred from direct assay
9722506 GOA
involved in erythropoietin-mediated signaling pathway IMP
IMP: Inferred from mutant phenotype
28283061 GOA
involved in negative regulation of calcium ion transport into cytosol IDA
IDA: Inferred from direct assay
14569084 GOA
involved in negative regulation of cation channel activity IDA
IDA: Inferred from direct assay
14569084 GOA
involved in negative regulation of erythrocyte apoptotic process IDA
IDA: Inferred from direct assay
14569084 GOA
involved in negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress IDA
IDA: Inferred from direct assay
14569084 GOA
involved in negative regulation of transcription by RNA polymerase II IMP
IMP: Inferred from mutant phenotype
16497104 GOA
involved in positive regulation of DNA-templated transcription IDA
IDA: Inferred from direct assay
9722506 GOA
involved in positive regulation of Ras protein signal transduction IDA
IDA: Inferred from direct assay
9722506 GOA
involved in positive regulation of cell population proliferation IDA
IDA: Inferred from direct assay
9722506 GOA
Cellular Component GO Annotation Evidence References Source
located in cell surface IDA
IDA: Inferred from direct assay
14569084 GOA
is active in extracellular space IDA
IDA: Inferred from direct assay
32989016 GOA
located in extracellular space IDA
IDA: Inferred from direct assay
14569084 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

EPO Protein Structure

EPO_TPO

EPO_TPO: Erythropoietin/thrombopoietin (30 - 193)

  • 0
  • 100
  • 193 a.a.
Protein Preferred Names Protein Names

erythropoietin

  • epoetin

EPO Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
EPO P01588 MAN1A1 Homo sapiens P33908 33961781
Intra
EPO P01588 EPOR Homo sapiens P19235 29997244
Intra
EPO P01588 EPHB4 Homo sapiens P54760 26481148
Intra
EPO P01588 EPHB4 Homo sapiens P54760 26481148
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant EPO Proteins

Cat. No. Product Name Accession Purity
HY-P7164 Erythropoietin/EPO Protein, Human (CHO) P01588 (A28-R193) ≥ 95%, as determined by reducing SDS-PAGE.

EPO Antibodies

Cat. No. Product Name Application Reactivity
HY-P83908 EPO Antibody (YA3605) WB, ICC/IF, ELISA Human
HY-P83908A EPO Antibody (YA3605)(PBS only) WB, ICC/IF, ELISA Human
HY-P85150 EPO Antibody (YA4842) WB, ICC/IF, ELISA Human

Related Diseases

Diseases Alias
Diamond-Blackfan Anemia-Like
  • DBAL

Erythrocytosis, Familial, 5
  • ECYT5

  • Familial Erythrocytosis 5

Microvascular Complications Of Diabetes 2
  • Microvascular Complications Of Diabetes, Susceptibility To, 2

  • MVCD2

  • Diabetic Nephropathy

  • Proliferative Diabetic Retinopathy

  • Proliferative Retinopathy, Diabetic

  • Proliferative Retinopathy, Diabetic, Susceptibility To

  • End-Stage Renal Disease, Diabetic

  • End-Stage Renal Disease, Diabetic, Susceptibility To

  • Diabetic End-Stage Renal Disease

Autosomal Dominant Secondary Polycythemia
  • Autosomal Dominant Secondary Erythrocytosis

Uremia
  • Uremia Of Renal Origin

End Stage Renal Disease
  • End Stage Renal Failure

  • End-Stage Kidney Disease

  • Kidney Failure, Chronic

  • Chronic Kidney Disease Stage 5

Pure Red-Cell Aplasia
  • Pure Red Cell Aplasia

  • Primary Red Cell Aplasia

  • Red Cell Hypoplasia

  • Prca

  • Red-Cell Aplasia Pure

  • Red-Cell Aplasia, Pure

Acquired Polycythemia
  • Secondary Polycythemia

  • Polycythemia, Secondary

  • Secondary Erythrocytosis

  • Polycythemia Secondary

Ocular Hypertension
  • Hypertension, Ocular

  • Intraocular Pressure Increase

  • Oh - [Ocular Hypertension]

  • Oht - [Ocular Hypertension]

Neonatal Anemia
  • Anemia Neonatal

  • Anemia, Neonatal

  • Anaemia Neonatal

  • Neonatal Anaemia

Iron Deficiency Anemia
  • Iron-Deficiency Anemia

  • Fe Deficiency Anaemia

  • Ida - [Iron Deficiency Anemia]

  • Fe - [Iron] Deficiency Anemia Nos

Myelofibrosis
  • Primary Myelofibrosis

  • Agnogenic Myeloid Metaplasia

  • Idiopathic Myelofibrosis

  • Myeloid Metaplasia

  • Myelofibrosis With Myeloid Metaplasia

  • Osteomyelofibrosis

  • Megakaryocytic Myelosclerosis

  • Myelosclerosis

  • Chronic Idiopathic Myelofibrosis

  • Myelofibrosis, Idiopathic

  • Myelofibrosis With Myeloid Metaplasia, Somatic

  • Myelofibrosis, Somatic

  • Aleukemic Myelosis

  • Bone Marrow Fibrosis

  • MYELOF

  • MMM

  • Agnogenic Myeloid Metaplasia With Myelofibrosis

  • Ammm

  • Myelosclerosis With Myeloid Metaplasia

  • Myelofibrosis Nos

Polycythemia
  • Erythrocythemia

  • Polycythemia Vera

  • Polycythaemia Due To High Altitude

Thrombocytosis
  • Thrombocythaemia

Deficiency Anemia
  • Anemia

  • Deficiency Anemias

  • Anaemia

Hemangioblastoma
  • Capillary Hemangioblastoma

Hypertensive Encephalopathy
  • Encephalopathy, Hypertensive

Primary Polycythemia
  • Familial Erythrocytosis

  • Familiar Polycythemia

  • Benign Familial Polycythemia

  • Congenital Erythrocytosis

  • Familial Polycythemia

  • Hereditary Erythrocytosis

  • Primary Familial Polycythemia

  • Erythrocytosis, Familial

  • Polycythemia Vera

  • Primary Familial Polycythaemia

  • Primary Inherited Polycythaemia

Refractory Anemia
  • Anemia Refractory

  • Refractory Anemias

  • Refractory Anemia, Without Ringed Sideroblasts, Without Excess Blasts

  • Refractory Anaemia Without Sideroblasts

  • Refractory Anaemia With Sideroblasts

  • Acquired Idiopathic Sideroblastic Anaemia

  • Primary Acquired Sideroblastic Anaemia

  • Refractory Sideroblastic Anaemia

  • Refractory Anaemia With Excess Blasts

  • Raeb - [Refractory Anaemia With Excess Blasts] Nos

  • Raeb - [Refractory Anaemia With Excess Blasts]

  • Rars-T [Refractory Anaemia With Ringed Sideroblasts Associated With Marked Thrombocytosis]

Rh Isoimmunization
  • Rh Incompatibility Affecting Management Of Mother

Polycythemia Vera
  • PV

  • Polycythemia Rubra Vera

  • Prv

  • Osler-Vaquez Disease

  • Chronic Erythremia

  • Polycythaemia Rubra Vera

  • Primary Polycythemia

  • Vaquez Disease

  • Polycythemia Vera, Somatic

  • Osler-Vaquez Syndrome

  • Proliferative Polycythaemia

  • Polycythemia Ruba Vera

  • Acquired Primary Erythrocytosis

  • Heilmeyer-Schoner Disease

  • Vaquez Osler Disease

  • Primary Polycythaemia

Chronic Kidney Disease
  • Chronic Renal Disease

  • Chronic Kidney Failure

  • Ckd

  • Chronic Renal Failure

  • Kidney Failure, Chronic

  • Chronic Renal Failure Syndrome

  • Crf

  • Renal Failure - Chronic

  • Renal Failure Chronic

  • Chronic Kidney Diseases

  • Chronic Kidney Disease Stage 5

  • Ckd - [Chronic Kidney Disease]

  • Crf - [Chronic Renal Failure]

  • Chronic Kidney Impairment

  • Chronic Renal Impairment

  • Chronic Kidney Shutdown

  • Chronic Hypoxic Kidney Failure

  • Chronic Kidney Collapse

  • Chronic Renal Insufficiency

  • Chronic Kidney Toxaemia

  • Chronic Kidney Hypofunction

  • Chronic Renal Suppression

  • Chronic Renal Failure, Stage 5

  • Ckd - [Chronic Kidney Disease] Stage 5

  • End Stage Kidney Failure

  • End Stage Renal Failure

  • End Stage Kidney Disease

  • End Stage Renal Disease

  • End Stage Chronic Renal Failure

  • Esrf - [End Stage Renal Failure]

  • Esrd - [End Stage Renal Diseases]

  • Egfr - [Estimated Glomerular Filtration Rate] < 15 Ml/Min/1.73m²

Kidney Disease
  • Renal Failure

  • Kidney Failure

  • Kidney Diseases

  • Nephropathy

  • Abnormality Of The Kidney

  • Impaired Renal Function Disease

  • Renal Anomaly

  • Kidney Dysfunction

  • Renal Disease

  • Nephropathies

  • Renal Failure Adverse Event

  • Abnormal Renal Function

Erythroleukemia
Ischemia
  • Acute Coronary Syndrome

Acute Radiation Syndrome
  • Acute Radiation Sickness

Anemia Of Prematurity
Iritis
Diabetic Neuropathy
  • Diabetic Neuropathies

Iron Metabolism Disease
  • Iron Deficiency

  • Iron Disorder

  • Iron Metabolism Disorders

  • Disorder Of Iron Metabolism

  • Iron

  • Fe Deficiency

  • Iron Storage Disease

  • Iron Storage Disorder

Secondary Hyperparathyroidism
  • Hyperparathyroidism Secondary

  • Hyperparathyroidism, Secondary

  • Secondary Hyperparathyroidism Nec

Diamond-Blackfan Anemia
  • Congenital Pure Red Cell Aplasia

  • Aase Syndrome

  • Erythrogenesis Imperfecta

  • Anemia, Diamond-Blackfan

  • Congenital Hypoplastic Anemia

  • Aase-Smith Ii Syndrome

  • Bds

  • Blackfan-Diamond Anemia

  • Congenital Prca

  • Congenital Hypoplastic Anemia, Blackfan-Diamond Type

  • Dba

  • Blackfan - Diamond Syndrome

  • Chronic Constitutional Pure Red Cell Anaemia

  • Anemia Diamond Blackfan Type

  • Anemia Congenital Erythroid Hypoplastic

  • Aregenerative Anemia Chronic Congenital

  • Blackfan Diamond Syndrome

  • Red Cell Aplasia, Pure Hereditary

  • Aase-Smith Syndrome Ii

  • Bda

  • Blackfan Diamond Anemia

  • Blackfan-Diamond Disease

  • Blackfan-Diamond Syndrome

  • Chronic Congenital Agenerative Anemia

  • Congenital Erythroid Hypoplastic Anemia

  • Congenital Hypoplastic Anemia Of Blackfan And Diamond

  • Congenital Pure Red Cell Anemia

  • Hypoplastic Congenital Anemia

  • Inherited Erythroblastopenia

  • Pure Hereditary Red Cell Aplasia

  • Anemia, Hypoplastic, Congenital

  • Anemia Hypoplastic Congenital

  • Fanconi Anemia

  • Constitutional Aplastic Anemia

  • Diamond-Blackfan Anemia 1

  • Aase Smith Syndrome 2

  • Congenital Red Cell Aplasia

  • Red Cell Aplasia Of Infants

  • Pure Red Cell Aplasia Of Infants

  • Congenital Red Cell Aplastic Anaemia

  • Congenital Pure Red Cell Anaemia

  • Congenital Erythroid Hypoplasia

  • Pearson Marrow-Pancreas Syndrome

Hypersplenism
  • Hypersplenia

  • Big Spleen Syndrome

  • Hyperfunction Of Spleen

  • Increased Splenic Activity

  • Spleen Metaplasia

  • Splenic Metaplasia

Essential Thrombocythemia
  • Essential Thrombocytosis

  • Familial Thrombocytosis

  • Hemorrhagic Thrombocythemia

  • Hereditary Thrombocythemia

  • Primary Thrombocytosis

  • Idiopathic Thrombocythemia

  • Primary Thrombocythemia

  • Thrombocythemia, Essential

  • Essential Thrombocythaemia

  • Et

  • Familial Thrombocythemia

  • Thrombocythemia Essential

Calciphylaxis
  • Idiopathic Calciphylaxis

Aplastic Anemia
  • Aplastic Anemia, Susceptibility To

  • Anemia Aplastic

  • Idiopathic Aplastic Anemia

  • Secondary Aplastic Anemia

  • Idiopathic Bone Marrow Failure

  • Aplastic Anemia Idiopathic

  • AA

  • Anemia, Aplastic

  • Aplastic Anemia, Idiopathic

  • Erythroid Aplasia

  • Aa - [Aplastic Anaemia]

  • Haematopoietic Aplasia

  • Aleukia Haemorrhagica

  • Anaemia Due To Decreased Red Cell Production

  • Aplasia Bone Marrow

  • Aplastic Bone Marrow

  • Hypoplastic Anaemia Nos

  • Myeloid Bone Marrow Aplasia

  • Pancytopenia

  • Panhaematopenia

  • Hypoproliferative Anaemia

  • Medullary Hypoplasia

  • Red Blood Cells Hypoplastic Anaemia

  • Panmyelophthisis

  • Panhemocytopenia

  • Refractive Hypoproliferative Anaemia

  • Toxic Anaemia

  • Toxic Aplastic Anaemia

  • Aplastic Anaemia Due To Toxic Cause

  • Idiopathic Aplastic Anaemia Nos

Chromosome 5q Deletion Syndrome
  • 5q- Syndrome

  • Mar

  • Myelodysplastic Syndrome Associated With Isolated Del Chromosome Abnormality

  • Macrocytic Anemia, Refractory, Due To 5q Deletion, Somatic

  • 5q Deletion Syndrome

  • 5q Minus Syndrome

  • Refractory Macrocytic Anemia Due To 5q Deletion

  • Myelodysplastic Syndrome With Isolated Del

  • Macrocytic Anemia, Refractory, Due To 5q Deletion

  • 5q- Syndrome, Refractory Macrocytic Anemia Due To 5q Deletion

  • 5q Syndrome

  • Chromosome 5q Deletion

  • Myelodysplastic Syndrome With 5q Deletion

  • Myelodysplastic Syndrome With 5q Deletion Syndrome

  • Anemia, Macrocytic, Refractory, Due To 5q Deletion, Somatic

  • 5q-Syndrome

  • Chromosome 5, Trisomy 5q

  • Loss Of Chromosome 5q

  • 5 Q- Syndrome

Beta-Thalassemia
  • Beta Thalassemia

  • Cooley'S Anemia

  • Mediterranean Anemia

  • Beta Thalassemia Intermedia

  • Erythroblastic Anemia

  • Thalassemia, Hispanic Gamma-Delta-Beta

  • Thalassemia Major

  • Thalassemia Minor

  • Beta-Plus-Thalassemia

  • Thalassemia, Beta

  • Beta Thalassemia Major

  • Beta Thalassemia Minor

  • Thalassemias, Beta-

  • Microcytemia, Beta Type

  • Thalassemia, Beta Type

  • B-THAL

  • Mediterranean Anaemia

  • Beta Thalassaemia Syndrome

  • Mediterranean Disease

  • Beta Thalassaemia Disease

Hyperparathyroidism
  • Hyperparathyroidism And Other Disorders Of Parathyroid Gland

  • Parathyroid Hyperfunction

  • Hpth - [Hyperparathyroidism]

  • Parathyroid Gland Hyperfunction

  • Parathyroid Glandular Hyperfunction

Thalassemia
  • Sickle-Cell Thalassemia With Crisis

  • Sickle-Cell Thalassemia Without Crisis

  • Thalassemia Hb-S Disease With Crisis

  • Thalassemia Hb-S Disease Without Crisis

  • Thalassemias

  • Hereditary Leptocytosis

  • Haemoglobin Thalassaemia Disorder

  • Thalassaemia Syndrome

  • Thalassaemia Nos

  • Thalassemia Variants

Pancytopenia
Sickle Cell Anemia
  • Hemoglobin Sc Disease

  • Anemia, Sickle Cell

  • Hbsc Disease

  • Sickle Cell-Hemoglobin C Disease Syndrome

  • Hb Ss Disease

  • Sickle Cell Trait

  • Drepanocytosis

  • Haemoglobin Sc Disease

  • Hb Sc Disease

  • Hb-S/Hb-C Disease

  • Hb-Ss Disease Without Crisis

  • Hemoglobin S Disease Without Crisis

  • Sickle Cell Anaemia

  • Sickle-Cell/Hb-C Disease Without Crisis

  • Sickle Cell - Hemoglobin C Disease

  • Hbs Disease

  • Hemoglobin S Disease

  • Sickling Disorder Due To Hemoglobin S

  • SKCA

  • Sickle Cell Disease

  • Sickle Cell-Hemoglobin C Disease

  • Sickle-Cell Disease Carrier

  • Sickle-Cell Heterozygous Disorder

  • Haemoglobin A-S Genotype

  • Hb-S - [Sickle Cell Haemoglobin] Carrier

  • Sickle Cell Haemoglobin Trait

  • As - [Sickle Cell Trait]

  • Hbas - [Sickle Cell Haemoglobin Trait]

  • Sickle-Cell Trait Haemoglobin Disease

  • Haemoglobin Sickle Cell Trait Disorder

  • Heterozygous Sickle Cell Trait

  • Hbas - [Heterozygous Haemoglobin S]

Autonomic Neuropathy
  • Diabetic Autonomic Neuropathy

Porphyria Cutanea Tarda
  • Hepatoerythropoietic Porphyria

  • HEP

  • Uroporphyrinogen Decarboxylase Deficiency

  • Pct

  • Pct, Type Ii

  • Porphyria, Hepatocutaneous Type

  • Urod Deficiency

  • Porphyria, Hepatoerythropoietic

  • Porphyria Cutanea Tarda, Susceptibility To

  • Familial Porphyria Cutanea Tarda

  • Porphyria Cutanea Tarda, Type Ii

  • Pct, 'Familial' Type

  • Porphyria, Hepatic

  • FPCT

  • Pct Type Ii

  • Porphyria Cutanea Tarda Type Ii

  • Porphyria Hepatocutaneous Type

  • Heterozygous Uroporphyrinogen Decarboxylase Deficiency

  • Urod - [Uroporphyrinogen Decarboxylase] Deficiency

  • Pct - [Porphyria Cutanea Tarda]

Mirage Syndrome
  • Myelodysplasia, Infection, Restriction Of Growth, Adrenal Hypoplasia, Genital Phenotypes, And Enteropathy

  • MIRAGE

  • Myelodysplasia, Infection, Restriction Of Growth, Adrenal Hypoplasia, Genital Phenotypes, Enteropathy

  • Myelodysplasia-Infection-Restriction Of Growth-Adrenal Hypoplasia-Genital Anomalies-Enteropathy Syndrome

  • Myelodysplasia-Infection-Restriction Of Growth-Adrenal Hypoplasia-Genital Phenotypes-Enteropathy Syndrome

  • Bone Marrow Diseases

Congestive Heart Failure
  • Congestive Heart Disease

  • Heart Failure

  • Cardiac Failure Congestive

  • Chf

  • Weak Heart

  • Heart Failure Congestive

  • Ccf - [Congestive Cardiac Failure]

  • Chf - [Congestive Heart Failure]

  • Congestive Cardiac Diseases

  • Congested Heart Failure

  • Congestive Cardiac Failure

  • Cardiac Anasarca

  • Cardiac Oedema

  • Cardiac Stasis

  • Cardiovascular Oedema

  • Cardiac Hydrops

  • Congestive Failure

  • Heart Congestion

  • Heart Fluid

  • Oedematous Heart

Ureteral Obstruction
Nutritional Deficiency Disease
  • Malnutrition

  • Nutritional Disorder

  • Nutritional Deficiency

  • Nutrition

  • Deficiency Diseases

  • Carbamoyl-Phosphate Synthase I Deficiency Disease

  • Nutrition Disorders

Hemosiderosis
  • Haemosiderosis

  • Iron Overload

Poems Syndrome
  • Crow-Fukase Syndrome

  • Osteosclerotic Myeloma

  • Polyneuropathy Organomegaly

  • Polyneuropathy, Organomegaly, Endocrinopathy, M Protein, And Skin Changes Syndrome

  • Pep Syndrome

  • Polyneuropathy-Endocrinopathy-Plasma Cell Dyscrasia Syndrome

  • Takatsuki Syndrome

Neutropenia
  • Leukopenia

Folic Acid Deficiency Anemia
  • Folate Deficiency Anaemia

  • Folic Acid Deficiency Anaemia

  • Folate Deficiency Anemia

  • Folate-Deficiency Anaemia

  • Folate-Deficiency Anemia

  • Folate-Deficient Megaloblastic Anaemia

  • Megaloblastic Anemia Due To Folate Deficiency

  • Anaemia Of Folate Deficiency

  • Folate Or Folic Acid Deficiency Anaemia Nos

  • Folic Acid Deficiency Anaemia Nos

  • Acquired Megaloblastic Anaemia Due To Nutritional Folate Deficiency

  • Dietary Folic Acid Deficiency Anaemia

  • Dietary Folate Deficiency Anaemia

  • Folate Deficiency Anaemia Due To Dietary Causes

  • Goat'S Milk Anaemia

  • Acquired Megaloblastic Anaemia Due To Folate Deficiency Secondary To Increased Requirement

  • Megaloblastic Anaemia Due To Increased Requirements Of Folate

  • Acquired Megaloblastic Anaemia Due To Folate Deficiency Secondary To Intestinal Disorders

  • Acquired Megaloblastic Anaemia Due To Decreased Intestinal Absorption Of Folate

  • Megaloblastic Anaemia Due To Decreased Intestinal Absorption Of Folate

Myelodysplastic Syndrome
  • Myelodysplastic Syndromes

  • Myelodysplasia

  • MDS

  • Myelodysplastic Syndrome Included

  • Myelodysplastic Syndrome, Susceptibility To, Included

  • Myelodysplastic Syndrome, Somatic

  • Myelodysplastic Syndrome, Susceptibility To

Sickle Cell Disease
  • Hbs Disease

  • Hemoglobin S Disease

  • Scd

  • Sickle Cell Disorders

  • Sickling Disorder Due To Hemoglobin S

  • Anemia, Sickle Cell

  • Hb-Ss Disease Without Crisis

  • Hbss Without Crisis

  • Sickle-Cell Anaemia Without Crisis

  • Scd - [Sickle Cell Disease]

  • Sca - [Sickle Cell Anaemia]

  • Sickle Cell Disease Nos

  • Sickle Cell Disorder

  • Sickle Cell Syndrome

  • Sickle-Cell Anaemia Nos

  • Sickle-Cell Disorder Nos

  • Haemoglobin S Disease

  • Haemoglobin Ss Disease

  • Hb S Disease

  • Hb Ss Disease

  • Herrick Anaemia

  • Hereditary Haemoglobinopathy Disorder Homozygous For Haemoglobin S

  • Sickle-Cell Haemoglobin Disease

  • Sickling Disorder Due To Haemoglobin S

  • Hb-Ss Disease With Crisis

  • Sickle Cell Crisis

  • Sickle-Cell Disorder With Crisis

  • Sickle-Cell Anaemia With Crisis

  • Hbss With Crisis

  • Hb S Disease With Mention Of Crisis

  • Haemoglobin Ss Disease With Crisis

  • Hb-Ss Disease With Vaso-Occlusive Pain

  • Vaso-Occlusive Crisis

Microcytic Anemia
  • Iron-Refractory Iron Deficiency Anemia

Hemoglobinopathy
  • Hemoglobinopathies

Stress Polycythemia
  • Gaisbock'S Syndrome

  • Polycythemia, Emotional

  • Pseudopolycythaemia

  • Gaisboeck'S Syndrome

  • Pseudopolycythemia

  • Gaisbock Syndrome

  • Stress Erythrocytosis

  • Pseudo-Polycythemia

  • Relative Erythrocytosis

Hemolytic Anemia
  • Anemia, Hemolytic

  • Anemia Hemolytic

  • Anaemia Due To Other Disorders Of Glutathione Metabolism

  • Chronic Non Spherocytic Anaemia

  • G6pd - [Glucose-6-Phosphate Dehydrogenase Deficiency] Anaemia

  • Anaemia Due To Glucose-6-Phosphate Dehydrogenase Deficiency

  • Glucose-6-Phosphate Dehydrogenase Deficiency With Anaemia

  • Glucose-6-Phosphate Dehydrogenase Deficiency Anaemia

  • Favism Anaemia

  • Haemolytic Anaemia Due Tog6pd Deficiency

  • Favism

  • Pentose Phosphate Pathway Disorder Anaemia

  • Anaemia Due To Pentose Phosphate Pathway Defect

Ovarian Clear Cell Cystadenocarcinoma
Fallopian Tube Mucinous Adenocarcinoma
Mixed Epithelial Tumor Of Ovary
  • Ovarian Mixed Epithelial Tumor

  • Mixed Epithelial Tumour Of Ovary

  • Ovarian Mixed Epithelial Tumour

Ovarian Clear Cell Malignant Adenofibroma
  • Ovarian Clear Cell Adenocarcinofibroma

Fallopian Tube Transitional Cell Carcinoma
Splenomegaly
Myeloproliferative Neoplasm
  • Myeloproliferative Disorder

  • Chronic Myeloproliferative Disease

  • Myeloproliferative Neoplasms

  • Chronic Myeloproliferative Disorder

  • Cmpd

  • Cmpd, U

  • Chronic Myeloproliferative Disorders

  • Mpd

  • Mpn

  • Myeloproliferative Disorders

  • Myeloproliferative Disease

  • Campomelic Dysplasia

Transient Erythroblastopenia Of Childhood
  • Erythroblastopenia, Transient

  • Transient Acquired Pure Red Cell Aplasia

  • TEC

  • Familial Transient Erythroblastopenia Of Childhood

Hemoglobinuria
Sleep Apnea
  • Sleep Apnea Syndromes

Erythrocytosis, Familial, 2
  • Chuvash Polycythemia

  • ECYT2

  • Familial Erythrocytosis 2

  • Autosomal Recessive Benign Erythrocytosis

  • Polycythemia, Vhl-Dependent

  • Chuvash Erythromatosis

  • Chuvash Type Polycythemia

  • Chuvash Erythrocytosis

  • Von Hippel-Lindau-Dependent Polycythemia

  • Polycythemia Chuvash Type

  • Vhl-Dependent Polycythemia

  • Erythrocytosis, Familial, Type 2

Thrombosis
  • Thrombosis Of Blood Vessel

Polycystic Kidney Disease
  • Polycystic Kidney Diseases

  • Pkd

  • Polycystic Renal Disease

  • Kidney Disease, Polycystic

  • Polycystic Kidney, Autosomal Dominant

Alpha-Thalassemia
  • Alpha Thalassemia

  • Alpha Thalassaemia

  • Alpha Plus Thalassemia

  • Thalassemia, Alpha-

  • Thalassemias, Alpha-

  • A-Thalassemia

  • Α-Thalassemia

  • A-THAL

  • Thalassemia

  • Alpha Thalassaemia Syndrome

Asphyxia Neonatorum
  • Birth Asphyxia

  • Postnatal Asphyxia

  • Asphyxia - Birth

  • Asphyxia, In Liveborn Infant

  • Hypoxia Neonatorum

  • Hypoxia, In Liveborn Infant

  • Intrapartum Asphyxia

  • Neonatal Asphyxia

  • Newborn Asphyxia

  • Asphyxia In Liveborn Infant

  • Asphyxia Of Newborn Nos

  • Perinatal Asphyxia

  • Perinatal Hypoxia

  • Newborn Asphyxiation

Porphyria
  • Hematoporphyria

  • Porphyrias

  • Disorder Of Porphyrin And Hem Metabolism

  • Disorder Of Porphyrin Metabolism

  • Porphyrinopathy

  • Porphyrin Disorder

  • Disorder Of Porphyrin And Heme Metabolism

  • Disorders Of Porphyrin Metabolism

Thrombocytopenia
  • Low Platelet Count

  • Low Platelets

  • Decreased Platelets

  • Platelet Dysfunction Nos

Erythrocytosis, Familial, 1
  • ECYT1

  • Pfcp

  • Primary Familial And Congenital Polycythemia

  • Familial Erythrocytosis 1

  • Familial Erythrocytosis

  • Polycythemia, Primary Familial And Congenital

  • Autosomal Dominant Benign Erythrocytosis

  • Familial Erythrocytosis Type 1

  • Congenital Erythrocytosis Due To Erythropoietin Receptor Mutation

  • Congenital Polycythemia Due To Erythropoietin Receptor Mutation

  • Primary Congenital Erythrocytosis

  • Primary Familial Polycythemia

  • Erythrocytosis, Autosomal Dominant Benign

  • Erythrocytosis, Somatic

  • Autosomal Dominant Familial Erythrocytosis-1

  • Erythrocytosis Autosomal Dominant Benign

  • Familial Primary Polycythemia

  • Familial Erythrocytosis, 1

  • Erythrocytosis, Familial, Type 1

Pulmonary Edema
Acquired Immunodeficiency Syndrome
  • Acquired Immune Deficiency Syndrome

  • AIDS

  • Acquired Immune Deficiency

  • Acquired Immunodeficiency

  • Acquired Immunodeficiency Due To Protein Loss

Acute Leukemia
  • Stem Cell Leukaemia

  • Stem Cell Leukemia

  • Acute Leukemias

  • Acute Undifferentiated Leukemia

  • Undifferentiated Leukemia

  • Acute Leukaemia Of Unspecified Cell Type Without Mention Of Remission

  • Blast Cell Leukaemia

  • Blast Leukaemia

  • Blastic Leukaemia

  • Undifferentiated Leukaemia

Diabetes Mellitus
  • Diabetes

Neuropathy
  • Peripheral Neuropathy

  • Peripheral Neuropathies

Erythema Infectiosum
  • Fifth Disease

  • Slapped Cheek Syndrome

  • Parvovirus B19 Infection

Pure Autonomic Failure
  • Orthostatic Hypotension

  • Idiopathic Orthostatic Hypotension

  • Postural Hypotension

  • Bradbury-Eggleston Syndrome

  • Bradbury Eggleston Syndrome

  • Hypotension, Orthostatic

  • Hypotension, Postural

  • Paf

  • Pure Dysautonomia

  • Pure Idiopatic Dysautonomia

  • Hypotension Orthostatic

  • Primary Orthostatic Hypotension

  • Chronic Orthostatic Hypotension

Analbuminemia
  • ANALBA

  • Congenital Analbuminemia

  • Hypoalbuminemia

Anemia, Congenital Dyserythropoietic, Type Ia
  • Congenital Dyserythropoietic Anemia Type I

  • Cda I

  • CDAN1A

  • Congenital Dyserythropoietic Anemia Type 1

  • Congenital Dyserythropoietic Anemia Type Ia

  • Congenital Dyserythropoietic Anemia, Type I

  • Anemia, Congenital Dyserythropoietic, Type I

  • Cda Type 1

  • Cda Type I

  • Cda Ia

  • Dyserythropoietic Anemia, Congenital Type 1

  • Anemia, Congenital Dyserythropoietic, Type 1a

  • Dyserythropoietic Anemia, Congenital, Type Ia

  • Cda, Type Ia

  • Congenital Dyserythropoietic Anaemia Type 1

  • Congenital Dyserythropoietic Anaemia Type I

  • Anemia, Dyserythropoietic, Congenital Type 1

  • Type I Congenital Dyserythropoietic Anemia

  • Anemia, Congenital Dyserythropoietic, 1a

  • Anemia, Dyserythropoietic, Congenital, Type Ia

Restless Legs Syndrome
  • Wed

  • Willis-Ekbom Disease

  • Restless Leg Syndrome

  • Ekbom Syndrome

  • Wittmaack-Ekbom Syndrome

  • Willis Ekbom Disease

  • Ekbom'S Syndrome

  • Rls

  • Restless Legs

  • Restless Legs Syndrome, Susceptibility To

Renal Fibrosis
Dyskeratosis Congenita
  • Dyskeratosis Congenita Autosomal Dominant

  • Dc

  • Dkc

  • Zinsser-Engman-Cole Syndrome

  • Dyskeratosis Congenita, Autosomal Dominant

  • Autosomal Dominant Dyskeratosis Congenita

  • Dkca

  • Dyskeratosis Congenita Scoggins Type

  • Zinsser-Cole-Engman Syndrome

  • X-Linked Dyskeratosis Congenita

  • Hoyeraal-Hreidarsson Syndrome

Plethora Of Newborn
  • Neonatal Polycythemia

Retinal Detachment
  • Retinal Detachments

  • Rhegmatogenous Retinal Detachment

  • Ruptured Retina With Detachment

  • Retinal Hole With Detachment

Malaria
  • Malaria, Susceptibility To

  • Malaria, Resistance To

  • Malaria, Cerebral

  • Cerebral Malaria

  • Malaria, Severe, Susceptibility To

  • Malaria, Severe, Resistance To

  • Malaria, Cerebral, Susceptibility To

  • Induced Malaria

  • Malaria, Vivax, Protection Against

  • Malaria, Severe

  • Malaria, Cerebral, Reduced Risk Of

  • Malaria, Protection Against

  • Resistance To Malaria Due To G6pd Deficiency

  • Malaria Due To G6pd Deficiency

  • Malarial Encephalitis

  • CM

  • Malaria Cerebral

  • Susceptibility To Malaria

  • Acute Pernicious Fever

  • Aestivo-Autumnal Fever

  • Aestivo Autumnal Malaria

  • Chagres Fever

  • Continued Malaria Fever

  • Estivo-Autumnal Fever

  • Estivo-Autumnal Malaria

  • Estivo-Autumnal Malarial Fever

  • Falciparum Fever

  • Malignant Tertian Fever

  • Malignant Tertian Malaria

  • Pernicious Intermittent Fever

  • Pernicious Malaria

  • Quotidian Malaria

  • Subtertian Fever

  • Subtertian Malaria Fever

  • Subtertian Malignant Tertian Malaria

  • Tropical Malaria

  • Algid Malaria

  • Bilious Haemoglobinuric Fever

  • Black Water Fever

  • Blackwater Fever

  • Malarial Blackwater Fever

  • Severe Malarial Falciparum

  • West African Fever

  • Malarial Haematinuria

  • Haemoglobinuric Fever

  • Haemoglobinuric Malaria

  • Severe Plasmodium Falciparum Malaria

  • Malarial Haemoglobinuria

  • Malarial Haematuria

  • Falciparum Malaria [Malignant Tertian]

  • Malaria Tropica

  • Malarial Shock

  • Chagres Virus Disease

  • Malignant Malaria

  • Mtm - [Malignant Tertian Malaria]

  • Tm -[Malignant Tertian Malaria]

  • Panama Fever

  • St - [Subtertian Malaria]

  • Malarial Quotidian

  • Benign Tertian Malaria

  • Tertian Ague

  • Vivax Fever

  • Plasmodium Vivax Malaria Nos

  • Btm - [Benign Tertian Malaria]

  • Bt - [Benign Tertian Malaria]

  • Vivax Malaria

  • Benign Tertian Vivax Malaria

  • Tertian Malaria

  • Quartan Malaria

  • Quartan Ague

  • Quartan Fever

  • Plasmodium Malariae Malaria Nos

  • Quartan Malarial

  • Malaria By Plasmodium Malariae

  • Malariae Malaria

  • Ovale Tertian Malaria

  • Plasmodium Ovale Fever

  • Malaria Fever By Plasmodium Ovale

  • Ovale Malaria

  • Malaria By Plasmodium Ovale

  • Malarial Ovale

  • Marsh Fever

  • Remittent Congestive Fever

  • Coastal Fever

  • Remittent Gastric Fever

  • Miasmatic Fever

  • Congestive Remittent Fever

  • Intermittent Fever

  • Jungle Fever

  • Paludism

  • Cameroon Fever

  • Ague

  • Corsican Fever

  • Intermittent Bilious Fever

  • Disease Due To Plasmodiidae

  • Malarial Fever

  • Plasmodiosis

  • Remittent Fever

  • Roman Fever

  • Malaria Fever Nos

  • Malaria Nos

  • Paludal Fever

  • Clinically Diagnosed Malaria

  • Clinically Diagnosed Malaria Without Parasitological Confirmation

  • Congestive Fever

  • Malarial Cachexia

  • Marsh Cachexia

  • Paludal Cachexia

  • Recurrent Malaria

  • Remittent Malaria

Acute Erythroid Leukemia
  • Acute Erythroleukemia

  • Di Guglielmo'S Syndrome

  • Aml M6

  • Acute Myeloid Leukemia Fab-M6

  • Acute Myeloid Leukemia M6

  • Erythroleukemia

  • Aml-M6

  • Acute Erythroleukemia M6a Subtype

  • Acute Erythroleukemia M6b Subtype

  • Di Guglielmo Syndrome

  • Acute Myeloid Leukemia, M6 Type

  • Acute Erythroblastic Leukemia

  • Acute Erythroleukemia - M6a Subtype

  • Acute Erythroleukemia - M6b Subtype

  • Acute Erythraemia And Erythroleukaemia

  • Acute Erythroid Leukaemia Without Mention Of Remission

  • Erythraemia

  • Erythraemic Myelosis

  • Erythroleukaemia

  • Acute Erythraemic Myelosis

  • Acute Erythraemia

Exudative Vitreoretinopathy 1
  • Retinopathy Of Prematurity

  • Retrolental Fibroplasia

  • EVR1

  • Criswick-Schepens Syndrome

  • Rop

  • Exudative Vitreoretinopathy, Familial, Autosomal Dominant

  • Fevr, Autosomal Dominant

  • Premature Retinopathy

  • Vitreoretinopathy, Exudative 1

  • Autosomal Dominant Familial Exudative Vitreoretinopathy

  • Fevr

  • Vitreoretinopathy, Exudative, Type 1

  • Retinopathy Of Prematurity Nos

  • Rlf- [Retrolental Fibroplasia]

  • Rop - [Retinopathy Of Prematurity]

  • Terry Syndrome

Myelophthisic Anemia
  • Myelophthisis

  • Anemia Leukoerythroblastic

  • Anemia, Leukoerythroblastic

  • Leukoerythroblastosis

  • Anemia, Myelophthisic

  • Leukoerythroblastic Anemia

Beta-Thalassemia Intermedia
Anemia, Sideroblastic, 1
  • Xlsa

  • X-Linked Sideroblastic Anemia

  • Hypochromic Anemia

  • Anh1

  • Hereditary Iron-Loading Anemia

  • Anemia, Sideroblastic, X-Linked

  • Anemia, Hereditary Sideroblastic

  • Erythroid 5-Aminolevulinate Synthase Deficiency

  • Hereditary Sideroblastic Anemia

  • SIDBA1

  • Anemia, Hypochromic

  • Sideroblastic Anemia 1

  • Anemia Hypochromic

  • X Chromosome-Linked Sideroblastic Anemia

  • Sideroblastic Anaemia 1

  • X-Linked Sideroblastic Anaemia

  • Anemia Hereditary Sideroblastic

  • Anemia Sex-Linked Hypochromic Sideroblastic

  • Congenital Sideroblastic Anemia

  • Sideroblastic Anemia X-Linked

  • Anemia, Sex-Linked Hypochromic Sideroblastic

  • Congenital Sideroblastic Anaemia

  • X-Linked Pyridoxine-Responsive Sideroblastic Anemia

  • Anemia Congenital Sideroblastic

  • Anemia, Sideroblastic, Type 1

  • Sex-Linked Hypochromic Sideroblastic Anaemia

  • Autosomal Recessive Sideroblastic Anaemia

  • Familial Sex Linked Hypochromic Anaemia

Progressive Myoclonus Epilepsy 9
  • Emp9

  • Pme Type 9

  • Progressive Myoclonic Epilepsy Due To Lmnb2 Deficiency

  • Progressive Myoclonus Epilepsy Type 9

Viral Exanthem
  • Viral Rash Nos

  • Virus Exanthema

  • Nonspecific Exanthematous Viral Infection

  • Nonspecific Viral Exanthem

  • Nonspecific Viral Rash

  • Viral Enanthema Nos

  • Viral Disease Characterised By Exanthem

  • Viral Exanthemata

  • Viral Exanthem, Unspecified

  • Viral Exanthema Nos

Encephalomalacia
Splenic Sequestration
Periventricular Leukomalacia
  • Leukomalacia, Periventricular

  • Pvl

  • Leukomalacia Periventricular

Beta-Thalassemia Major
  • Cooley'S Anemia

  • Cooley Anemia

  • Mediterranean Anemia

Bone Disease
  • Bone Diseases

  • Skeletal Disease

  • Skeletal Disorder

  • Disorder Of Skeletal System

Hemochromatosis, Type 1
  • Hemochromatosis

  • Hemochromatosis Type 1

  • Hereditary Hemochromatosis

  • Hh

  • HFE1

  • Hfe Hemochromatosis, Modifier Of

  • Symptomatic Form Of Classic Hemochromatosis

  • Symptomatic Form Of Hemochromatosis Type 1

  • Symptomatic Form Of Hfe-Related Hereditary Hemochromatosis

  • Haemochromatosis

  • Iron Storage Disorder

  • Bronze Diabetes

  • Hereditary Haemochromatosis

  • Hlah

  • Hfe

  • Hemochromatosis, Hereditary

  • Diabetes Bronze

  • Classic Hemochromatosis

  • Hfe-Associated Hereditary Hemochromatosis

  • Hemochromatosis Classic

  • Bronzed Cirrhosis

  • Familial Hemochromatosis

  • Genetic Hemochromatosis

  • Hc

  • Pigmentary Cirrhosis

  • Primary Hemochromatosis

  • Troisier-Hanot-Chauffard Syndrome

  • Von Recklenhausen-Applebaum Disease

  • Hemochromatosis 1

  • Primary Hereditary Hemochromatosis

  • Bronze Cirrhosis

Type 1 Diabetes Mellitus 19
  • Diabetes Mellitus, Insulin-Dependent, 19

  • IDDM19

  • T1D19

  • Insulin-Dependent Diabetes Mellitus 19

Parathyroid Gland Disease
  • Parathyroid Diseases

  • Disease Of Parathyroid Glands

  • Parathyroid Disease

Blood Group Incompatibility
Leukemia, Chronic Myeloid
  • Chronic Myeloid Leukemia

  • Chronic Myelogenous Leukemia

  • CML

  • Chronic Granulocytic Leukemia

  • Leukemia, Philadelphia Chromosome-Positive, Resistant To Imatinib

  • Chronic Myeloid Leukaemia

  • Chronic Granulocytic Leukaemia

  • Chronic Myelogenous Leukaemia

  • Myeloid Leukemia, Chronic

  • Leukemia, Chronic Myelogenous

  • Leukemia, Chronic Myeloid, Philadelphia Chromosome Positive, Somatic

  • Cml - Chronic Myelogenous Leukemia

  • Cgl

  • Chronic Myelocytic Leukemia

  • Leukemia, Chronic Myeloid, Atypical

  • ACML

  • Atypical Chronic Myeloid Leukemia Bcr-Abl1 Negative

  • Myeloid Leukemia Chronic

  • Leukemia, Myeloid, Chronic

  • Leukemia, Myeloid, Chronic, Atypical, Bcr-Abl Negative

  • Cml- [Chronic Myeloid Leukaemia]

  • Cgl - [Chronic Granulocytic Leukaemia]

  • Chronic Myelocytic Leukaemia

Hypochromic Microcytic Anemia
  • Anemia, Hypochromic Microcytic

  • Microcytic Hypochromic Anemia

Vitamin B12 Deficiency
  • Cobalamin Deficiency

  • Hypocobalaminemia

  • Vitamin B 12 Deficiency

  • Cyanocobalamin Deficiency

  • Deficiency Of Vitamin B12

Uremic Neuropathy
Thalassemia Minor
Vitamin Metabolic Disorder
Hydrocephalus
  • Hydrocephalus, Nonsyndromic, Autosomal Recessive

  • Hydrocephalus, X-Linked

  • Hydrocephalus Adverse Event

  • Hydrocephaly Nos

Pheochromocytoma
  • Pheochromocytoma, Susceptibility To

  • Phaeochromocytoma

  • Adrenal Gland Chromaffin Paraganglioma

  • Adrenal Gland Chromaffinoma

  • Adrenal Gland Paraganglioma

  • Adrenal Gland Pheochromocytoma

  • Chromaffin Paraganglioma Of The Adrenal Gland

  • Intraadrenal Paraganglioma

  • PCC

  • Chromaffin Cell Tumor

  • Medullary Chromaffinoma

  • Medullary Paraganglioma

  • Pheochromoblastoma

  • Pheochromocytomas

  • Chromaffin Cell Neoplasm

  • Pheochromocytoma, Malignant

Congenital Hemolytic Anemia
  • Anemia Hemolytic Congenital

  • Anemia, Hemolytic, Congenital

  • Congenital Hemolytic Anaemia

  • Hereditary Hemolytic Anaemia

  • Hereditary Hemolytic Anemia

Heart Disease
  • Heart Failure

  • Congenital Heart Disease

  • Heart Diseases

  • Congenital Heart Defects

  • Congenital Heart Defect

  • Heart Malformation

  • Congenital Anomaly Of Heart

  • Heart Defect

  • Heart-Congenital Defect

  • Congenital Heart Disorder

  • Heart Defects Congenital

  • Heart Defects, Congenital

  • Heart Defects

  • Heart Disease, Congenital

  • Disease, Heart, Congenital

  • Congestive Heart Failure

Retinal Degeneration
  • Degeneration Of Retina

Nephrotic Syndrome
  • Finnish Congenital Nephrotic Syndrome

  • Ns - [Nephrotic Syndrome]

  • Nephrosis Syndrome

  • Nephrosis Nos

  • Glomerular Lesion Nephrosis

Renal Artery Disease
  • Renal Vascular Disease

  • Vascular Disorder Of Kidney

  • Renal Vascular Disorder

Blood Platelet Disease
  • Platelet Disorder

  • Blood Platelet Disorders

  • Thrombocytopathy

  • Platelet Dysfunction

  • Platelet Disorders

  • Qualitative Platelet Deficiency

Chronic Pyelonephritis
Renal Hypertension
  • Hypertension Renal

  • Hypertension, Renal

Epiglottis Cancer
  • Epiglottic Cancer

  • Malignant Tumor Of Epiglottis

Neovascular Glaucoma
  • Glaucoma, Neovascular

  • Secondary Angle-Closure Glaucoma With Rubeosis

  • Glaucoma Neovascular

Retinal Ischemia
Kidney Fibrosarcoma
  • Fibrosarcoma Of The Kidney

Myeloid And Lymphoid Neoplasms Associated With Pdgfra Rearrangement
  • Myeloid/Lymphoid Neoplasm Associated With Pdgfra Rearrangement

  • Myeloid And Lymphoid Neoplasms With Pdgfra Rearrangement

Blood Coagulation Disease
  • Blood Coagulation Disorders

  • Coagulation Protein Disease

  • Inherited Blood Coagulation Disease

  • Postpartum Coagulation Defect

  • Postpartum Coagulation Defect With Delivery

  • Coagulation Protein Disorders

  • Puerperal Coagulopathy

Blood Protein Disease
  • Blood Protein Disorders

  • Blood Protein Disorder

Carotid Artery Occlusion
  • Occlusion And Stenosis Of Carotid Artery

Bone Marrow Cancer
  • Malignant Neoplasm Of Bone Marrow

  • Bone Marrow Neoplasm

  • Bone Marrow Tumor

  • Malignant Bone Marrow Tumor

  • Myeloproliferative Disorders

  • Bone Marrow Neoplasms

  • Myeloproliferative Disease

  • Chronic Myeloproliferative Disorder

Perinatal Necrotizing Enterocolitis
  • Necrotizing Enterocolitis

  • Enterocolitis Necrotizing

  • Enterocolitis, Necrotizing

  • Necrotizing Enterocolitis In Fetus Or Newborn

  • Perinatal Necrotising Enterocolitis

  • Pseudomembranous Enterocolitis In Newborn

  • Nec

Mineral Metabolism Disease
  • Mineral Metabolism Disorder

  • Disorder Of Mineral Metabolism

Myocardial Infarction
  • Heart Attack

  • Myocardial Infarction, Susceptibility To

  • Myocardial Infarction 1

  • Myocardial Infarction, Protection Against

  • Myocardial Infarction, Decreased Susceptibility To

  • Myocardial Infarction, Decreased

  • Myocardial Infarct

  • MCI1

  • Premature Myocardial Infarction

  • Myocardial Infarction, Susceptibility To, Type 1

Metal Metabolism Disorder
  • Metal Metabolism, Inborn Errors

  • Inborn Metal Metabolism Disorder

Myeloma, Multiple
  • Multiple Myeloma

  • Plasma Cell Myeloma

  • Kahler Disease

  • Myelomatosis

  • Medullary Plasmacytoma

  • Multiple Myeloma, Resistance To

  • Myeloma

  • Plasma Cell Dyscrasia

  • Kahler'S Disease

  • Multiple Myeloma, Susceptibility To

  • Myeloma - Multiple

  • Kahler-Bozzolo Disease

  • Plasma Cell Myelomas

  • MM

  • Plasma Cell Neoplasm

  • Primary Systemic Amyloidosis

  • Primary Amyloidosis

  • Immunoglobulin Deposition Disease

  • Plasmacytic Myeloma

  • Multiple Myelomata

  • Multiple Myeloma Nos

  • Multiple Myeloma Without Mention Of Remission

  • Monostotic Plasma Cell Myeloma

  • Mm - [Multiple Myeloma]

Erythrocytosis, Familial, 6
  • ECYT6

  • Erythrocytosis 6

  • Familial Erythrocytosis 6

  • Erythrocytosis, Beta-Globin Type

  • Polycythemia, Beta-Globin Type

  • Beta-Globin Type Erythrocytosis

  • Beta-Globin Type Polycythemia

Anemia, Autoimmune Hemolytic
  • Autoimmune Hemolytic Anemia

  • Idiopathic Autoimmune Hemolytic Anemia

  • Immuno-Hemolytic Anemia

  • Anemia, Hemolytic, Autoimmune

  • Autoimmune Haemolytic Anaemia

  • Autoimmune Hemolytic Anaemia

  • Acquired Autoimmune Hemolytic Anemia

  • Anemia Hemolytic Autoimmune

  • Familial Auto-Immune Hemolytic Anemia

  • Aha

  • Aiha

Peripheral Vascular Disease
  • Peripheral Arterial Disease

  • Arterial Occlusive Disease

  • Arterial Occlusive Diseases

  • Pad

  • Peripheral Vascular Diseases

  • Peripheral Occlusive Disease

  • Peripheral Arterial Diseases

  • Helicobacter Infections

Hereditary Spherocytosis
  • Congenital Spherocytic Hemolytic Anemia

  • Spherocytic Anemia

  • Congenital Spherocytosis

  • Spherocytosis, Type 1

  • Minkowski Chauffard Syndrome

  • Hs

  • Minkowski-Chauffard Disease

  • Minkowski-Chauffard Syndrome

  • Spherocytosis Hereditary

  • Spherocytosis, Hereditary

  • Anemia, Hereditary Spherocytic Hemolytic

Hypertension, Essential
  • Essential Hypertension

  • Hypertension

  • High Blood Pressure

  • Hypertension, Essential, Susceptibility To

  • Hypertensive Disease

  • Primary Hypertension

  • EHT

  • Hypertension, Salt-Sensitive Essential, Susceptibility To

  • Hyperpiesia

  • Idiopathic Hypertension

  • Hypertensive Disorder

  • Hypertension, Essential, Susceptibility To, 3

  • Hypertension, Essential 3

  • Hypertension, Essential, Salt-Sensitive

  • Hypertension, Essential, Susceptibility To, 6

  • Hypertension, Essential 6

  • Hypertension, Salt-Sensitive Essential

  • Hypertension, Susceptibility To

  • Hypertension, Essential, Susceptibility To, 4

  • Hypertension, Essential 4

  • Hypertension, Essential, Susceptibility To, 2

  • Hypertension, Essential 2

  • Hypertension, Essential, Susceptibility To, 1

  • Hypertension, Essential 1

  • Hypertension, Essential, Susceptibility To, 5

  • Hypertension, Essential 5

  • Htn

  • Vascular Hypertensive Disorder

  • Systemic Primary Arterial Hypertension

  • Hbp - [High Blood Pressure]

  • Systemic Arterial Hypertensive Disorder

  • Elevated Blood Pressure

  • Arterial Hypertension Nos

  • Hypertension Nos

  • Benign Hypertension

  • Systemic Arterial Hypertension

  • Systemic Hypertension

  • Artery Htn

  • Benign Htn

  • Vascular Htn

  • Vascular Hypertension

  • Cholesterol Hypertension

  • Cholesterol Htn

  • Idiopathic Htn

  • Malignant Hypertension

  • Malignant Htn

  • Raised Blood Pressure

  • Cardiovascular Hypertension

  • Primary Htn - [Hypertension]

  • High Arterial Tension

  • High Blood Pressure Disorder

  • Ht - [Hypertension]

  • Htn - [Hypertension]

  • Hypertensive Vascular Disease

  • Hypertensive Vascular Degeneration

Conidiobolomycosis
  • Infection By Conidiobolus

  • Rhinoentomophthoromycosis

  • Entomophthoromycosis Conidiobolae

Esophagus Carcinoma In Situ
  • Carcinoma In Situ Of Esophagus

  • Carcinoma In Situ Of Oesophagus

  • Oesophagus Carcinoma In Situ

  • Severe Esophageal Dysplasia

  • Stage 0 Carcinoma Of The Esophagus

  • Stage 0 Carcinoma Of The Oesophagus

  • Severe Oesophageal Dysplasia

Tremor, Hereditary Essential, 2
  • ETM2

  • Essential Tremor 2

  • Essential Tremor, Hereditary, 2

  • Hereditary Essential Tremor 2

  • Tremor Hereditary Essential, 2

Cystic Kidney Disease
  • Renal Cyst

  • Simple Renal Cyst

  • Kidney Cysts

  • Kidney Diseases, Cystic

  • Renal Cysts

  • Kidney Cyst

  • Cystic Kidney

  • Congenital Cystic Kidney Disease

  • Cystic Kidney Diseases

  • Bosniak 1 Cyst

Ceftazidime Allergy
  • Fortaz Allergy

  • Tazicef Allergy

Osteoporosis
  • Postmenopausal Osteoporosis

  • Osteoporosis, Postmenopausal

  • Bone Mineral Density Quantitative Trait Locus

  • Bmnd

  • Osteoporosis, Involutional

  • Osteoporosis, Susceptibility To

  • Osteoporosis, Postmenopausal, Susceptibility

  • Bone Mineral Density Variation Qtl, Osteoporosis

  • OSTEOP

  • Involutional Osteoporosis

  • Senile Osteoporosis

  • Osteoporosis Postmenopausal

  • Bone Mineral Density, Quantitative Trait Locus

  • Osteoporosis, Senile

  • Idiopathic Osteoporosis

  • Bone Rarefaction Nos

  • Type 1 Osteoporosis

Fallopian Tube Clear Cell Adenocarcinoma
  • Clear Cell Carcinoma Of The Fallopian Tube

Patent Ductus Arteriosus 1
  • Patent Ductus Arteriosus

  • PDA1

  • Pda

  • Ductus Arteriosus, Patent

  • Patent Ductus Arteriosus, Susceptibility To

  • Patent Ductus Botalli

  • Patency Of The Ductus Arteriosus

  • Patent Ductus Arteriosus Familial

  • Ductus Arteriosus Patent

  • Patent Ductus Arteriosus - Persisting Type

Bilirubin Metabolic Disorder
  • Hyperbilirubinemia

  • Hereditary Hyperbilirubinemia

  • Hyperbilirubinemia, Hereditary

  • Hyperbilirubinaemia

Intracranial Berry Aneurysm
  • Familial Aneurysmal Subarachnoid Hemorrhage

  • Familial Berry Aneurysm

  • Familial Intracranial Saccular Aneurysm

  • Saccular Cerebral Aneurysm

  • Aneurysm, Intracranial Berry

  • Aneurysmal Subarachnoid Hemorrhage

  • Aneurysm, Intracranial Berry, 1

Autosomal Dominant Polycystic Kidney Disease
  • Polycystic Kidney Disease, Adult Type

  • Adpkd

  • Polycystic Kidney Diseases

  • Polycystic Kidney, Autosomal Dominant

  • Congenital Biliary Ectasias

  • Polycystic Kidney And Hepatic Disease 1

  • Polycystic Kidney Disease, Autosomal Dominant

  • Kidney, Polycystic, Disease, Autosomal Dominant

  • Adult Polycystic Kidney Disease

  • Polycystic Kidney, Adult Type

  • Apckd - [Autosomal Polycystic Kidney Disease]

Cerebral Palsy
  • Infantile Cerebral Palsy

  • Mixed Cerebral Palsy

  • Palsy Cerebral

  • Palsy, Cerebral

  • Cerebral Palsy, Mixed

Leukemia, Acute Myeloid
  • Acute Myeloid Leukemia

  • Leukemia, Acute Myelogenous

  • Acute Myelogenous Leukemia

  • AML

  • Leukemia, Acute Myeloid, Susceptibility To

  • Acute Myeloblastic Leukemia

  • Leukemia, Acute Myeloid, Reduced Survival In, Somatic

  • Acute Myeloid Leukaemia

  • Leukemia, Myelocytic, Acute

  • Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome

  • Secondary Aml

  • Acute Myelocytic Leukemia

  • Acute Myeloid Leukemia, Somatic

  • Leukemia, Acute Myeloid, Somatic

  • Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic

  • Acute Myeloblastic Leukaemia

  • Acute Myelogenous Leukaemia

  • Aml - Acute Myeloid Leukemia

  • Acute Myeloid Leukemia With Cebpa Somatic Mutations

  • Aml With Cebpa Somatic Mutations

  • Inherited Acute Myeloid Leukemia

  • Familial Aml

  • Inherited Aml

  • Pure Familial Aml

  • Pure Familial Acute Myeloid Leukemia

  • Secondary Acute Myeloid Leukemia

  • Therapy-Related Aml And Myelodysplastic Syndrome

  • Acute Myeloid Leukemia, Secondary

  • Acute Non-Lymphoblastic Leukemia

  • Acute Non-Lymphocytic Leukemia

  • Acute Biphenotypic Leukemia

  • Acute Undifferentiated Leukemia

  • Acute Myeloblastic Leukaemia With Multilineage Dysplasia

  • Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission

  • Acute Myeloid Leukaemia With Myelodysplasia-Related Features

Peripheral Nervous System Disease
  • Peripheral Neuropathy

  • Peripheral Nerve Disease

  • Peripheral Nerve Disorders

  • Neuropathy, Peripheral

  • Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

Nervous System Disease
  • Abnormality Of The Nervous System

  • Nervous System Diseases

  • Nervous System Disorder

Eye Disease
  • Eye Diseases

  • Abnormality Of The Eye

  • Toxoplasma Oculopathy

Retinitis Pigmentosa
  • RP

  • Rod-Cone Dystrophy

  • Autosomal Recessive Retinitis Pigmentosa

  • Non-Syndromic Retinitis Pigmentosa

  • Pericentral Pigmentary Retinopathy

  • Pigmentary Retinopathy

  • Tapetoretinal Degeneration

  • Rcd

  • Retinitis Pigmentosa Autosomal Recessive

  • ARRP

  • Retinitis Pigmentosa, Autosomal Recessive

  • Retinitis Pigmentosa 1

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus EPO VGNC VGNC:28549
Mus musculus EPO MGD MGI:95407
Felis catus EPO VGNC VGNC:61915
Rattus norvegicus EPO RGD RGD:2559
Macaca mulatta EPO VGNC VGNC:72246
Canis familiaris EPO VGNC VGNC:40422
Others EPO NCBI