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: Lens Diseases (D007905)
..Starting node ..Aphakia (D001035)
Child Nodes:
........Aphakia, congenital primary (C537786)
........Aphakia, Postcataract (D001036)
Sister Nodes:
..Aphakia (D001035) 2
..Artificial Lens Implant Migration (D060437)
..Cataract (D002386) 146
..Lens Subluxation (D007906) 14
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	805
Name:	Aphakia
Definition:	Absence of crystalline lens totally or partially from field of vision, from any cause except after cataract extraction. Aphakia is mainly congenital or as result of LENS DISLOCATION AND SUBLUXATION.
Alternative IDs:
ParentIDs:	MESH:D007905
TreeNumbers:	C11.510.103
Synonyms:	Aphakias
Slim Mappings:	Eye disease
Reference:	MedGen: D001035 MeSH: D001035 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants