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: Refractive Errors (D012030)
..Starting node ..Hyperopia (D006956)
Child Nodes:
........Euhidrotic ectodermal dysplasia (C535763)
........Hyperopia, High (C565497)
........Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies (C566884)
........Nanophthalmos 1 (C563983)
........STAPES ANKYLOSIS WITH BROAD THUMB AND TOES (OMIM:184460)
Sister Nodes:
..Aniseikonia (D000839)
..Anisometropia (D015858)
..Astigmatism (D001251)
..Corneal Wavefront Aberration (D057108)
..Hyperopia (D006956) 5
..Myopia (D009216) 45
..Presbyopia (D011305)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	5425
Name:	Hyperopia
Definition:	A refractive error in which rays of light entering the eye parallel to the optic axis are brought to a focus behind the retina, as a result of the eyeball being too short from front to back. It is also called farsightedness because the near point is more distant than it is in emmetropia with an equal amplitude of accommodation. (Dorland, 27th ed)
Alternative IDs:
ParentIDs:	MESH:D012030
TreeNumbers:	C11.744.479
Synonyms:	Farsightedness \|Hypermetropia
Slim Mappings:	Eye disease
Reference:	MedGen: D006956 MeSH: D006956 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants