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: Eye Diseases (D005128)
Parent Node: Facial Injuries (D005151)
..Starting node ..Eye Injuries (D005131)
Child Nodes:
........Anterior Capsular Rupture, Ocular (D057971)
........Corneal Injuries (D065306) 1
........Eye Burns (D005126)
........Eye Foreign Bodies (D005129)
........Eye Injuries, Penetrating (D015807)
........Posterior Capsular Rupture, Ocular (D057851)
Sister Nodes:
..Eye Injuries (D005131) 7
..Maxillofacial Injuries (D008446) 6
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	4057
Name:	Eye Injuries
Definition:	Damage or trauma inflicted to the eye by external means. The concept includes both surface injuries and intraocular injuries.
Alternative IDs:
ParentIDs:	MESH:D005128\|MESH:D005151
TreeNumbers:	C11.297 \|C26.260.275.250
Synonyms:	Eye Injury \|Injuries, Eye \|Injury, Eye
Slim Mappings:	Eye disease\|Wounds and injuries
Reference:	MedGen: D005131 MeSH: D005131 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants