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, Hereditary (D015785)
Parent Node: Retinal Drusen (D015593)
..Starting node ..Drusen, Radial, Autosomal Dominant (C565088)
Child Nodes:
Sister Nodes:
..Basal Laminar Drusen (C563034)
..Drusen, Radial, Autosomal Dominant (C565088)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	3467
Name:	Drusen, Radial, Autosomal Dominant
Definition:
Alternative IDs:
ParentIDs:	MESH:D015593\|MESH:D015785
TreeNumbers:	C11.270/C565088 \|C11.768.585.585/C565088 \|C16.320.290/C565088
Synonyms:
Slim Mappings:	Eye disease\|Genetic disease (inborn)
Reference:	MedGen: C565088 MeSH: C565088 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants