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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, Hereditary (D015785)
Parent Node: Hyperopia (D006956)
..Starting node ..Hyperopia, High (C565497)
Child Nodes:
Sister 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)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

5426

Name:

Hyperopia, High

Definition:

Alternative IDs:

ParentIDs:

MESH:D006956|MESH:D015785

TreeNumbers:

C11.270/C565497 |C11.744.479/C565497 |C16.320.290/C565497

Synonyms:

Slim Mappings:

Eye disease|Genetic disease (inborn)

Reference:

MedGen: C565497
MeSH: C565497
OMIM: 238950;

Genes:

Phenotypes

HP:0008499

High hypermetropia

Disease Causing ClinVar Variants