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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Genetic Diseases, Inborn (D030342)
Parent Node: Hematologic Diseases (D006402)
..Starting node ..Hemoglobinopathies (D006453)
Child Nodes:
........Anemia, Sickle Cell (D000755) 3
........Hemoglobin C Disease (D006445) 1
........Thalassemia (D013789) 16
Sister Nodes:
..Adenosine Triphosphate, Elevated, Of Erythrocytes (C566310)
..Anemia (D000740) 166
..Blood Coagulation Disorders (D001778) 119
..Blood Platelet Disorders (D001791) 93
..Blood Protein Disorders (D001796) 75
..Bone Marrow Diseases (D001855) 87
..Erythroblastosis, Fetal (D004899) 7
..Hematologic Neoplasms (D019337) 1
..Hemoglobinopathies (D006453) 23
..Hemorrhagic Disorders (D006474) 108
..Kabuki syndrome (C537705)
..Leukocyte Disorders (D007960) 84
..Macrocytosis, Familial (C564004)
..Methemoglobinemia (D008708) 6
..Pancytopenia (D010198) 5
..Polycythemia (D011086) 4
..Pregnancy Complications, Hematologic (D011250)
..Preleukemia (D011289)
..Rh-Null, Regulator Type (C564833)
..Sulfhemoglobinemia (D013436) 1
..Thrombophilia (D019851) 27
..Transfusion Reaction (D065227)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	5027
Name:	Hemoglobinopathies
Definition:	A group of inherited disorders characterized by structural alterations within the hemoglobin molecule.
Alternative IDs:
ParentIDs:	MESH:D006402\|MESH:D030342
TreeNumbers:	C15.378.420 \|C16.320.365
Synonyms:	Hemoglobinopathy
Slim Mappings:	Blood disease\|Genetic disease (inborn)
Reference:	MedGen: D006453 MeSH: D006453 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants