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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: Anemia, Hemolytic, Congenital (D000745)
Parent Node: Hemoglobinopathies (D006453)
..Starting node ..Thalassemia (D013789)
Child Nodes:
........alpha-Thalassemia (D017085) 9
........beta-Thalassemia (D017086) 4
........delta-Thalassemia (D055538) 1
Sister Nodes:
..Anemia, Sickle Cell (D000755) 3
..Hemoglobin C Disease (D006445) 1
..Thalassemia (D013789) 16
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	10956
Name:	Thalassemia
Definition:	A group of hereditary hemolytic anemias in which there is decreased synthesis of one or more hemoglobin polypeptide chains. There are several genetic types with clinical pictures ranging from barely detectable hematologic abnormality to severe and fatal anemia.
Alternative IDs:
ParentIDs:	MESH:D000745\|MESH:D006453
TreeNumbers:	C15.378.071.141.150.875 \|C15.378.420.826 \|C16.320.070.875 \|C16.320.365.826
Synonyms:	Thalassemias
Slim Mappings:	Blood disease\|Genetic disease (inborn)
Reference:	MedGen: D013789 MeSH: D013789 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants