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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, Macrocytic (D000748)
..Starting node ..Anemia, Megaloblastic (D000749)
Child Nodes:
........Anemia, Pernicious (D000752) 1
........Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Subnormal Mentality (C565658)
........Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type (C565510)
........Lubani Al Saleh Teebi syndrome (C537039)
........MEGALOBLASTIC ANEMIA 1 (OMIM:261100)
........Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency (C565095)
........Thiamine responsive megaloblastic anemia syndrome (C536510)
Sister Nodes:
..5q- syndrome (C535323)
..Anemia, Megaloblastic (D000749) 8
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	638
Name:	Anemia, Megaloblastic
Definition:	A disorder characterized by the presence of ANEMIA, abnormally large red blood cells (megalocytes or macrocytes), and MEGALOBLASTS.
Alternative IDs:
ParentIDs:	MESH:D000748
TreeNumbers:	C15.378.071.252.196
Synonyms:	Anemias, Megaloblastic \|Megaloblastic Anemia \|Megaloblastic Anemias
Slim Mappings:	Blood disease
Reference:	MedGen: D000749 MeSH: D000749 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants