Disease browser and phenotype portal

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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: Aphakia (D001035)
..Starting node ..Aphakia, Postcataract (D001036)
Child Nodes:
Sister Nodes:
..Aphakia, congenital primary (C537786)
..Aphakia, Postcataract (D001036)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	807
Name:	Aphakia, Postcataract
Definition:	Absence of the crystalline lens resulting from cataract extraction.
Alternative IDs:
ParentIDs:	MESH:D001035
TreeNumbers:	C11.510.103.110
Synonyms:	Aphakias, Postcataract \|Postcataract Aphakia \|Postcataract Aphakias
Slim Mappings:	Eye disease
Reference:	MedGen: D001036 MeSH: D001036 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants