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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 Detachment (D012163)
..Starting node ..Rhegmatogenous Retinal Detachment, Autosomal Dominant (C563710)
Child Nodes:
Sister Nodes:
..Diverticulosis of Bowel, Hernia, and Retinal Detachment (C565619)
..Knobloch syndrome (C537209)
..Knobloch Syndrome Type II (C548030)
..Knobloch Syndrome Type III (C548031)
..Lattice Degeneration of Retina Leading to Retinal Detachment (C563633)
..Retinal Nonattachment And Falciform Detachment (C566717)
..Rhegmatogenous Retinal Detachment, Autosomal Dominant (C563710)
..Spondyloocular Syndrome, Autosomal Recessive (C565285)
..Stickler syndrome, type 1 (C537492)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	9827
Name:	Rhegmatogenous Retinal Detachment, Autosomal Dominant
Definition:
Alternative IDs:
ParentIDs:	MESH:D012163\|MESH:D015785
TreeNumbers:	C11.270/C563710 \|C11.768.648/C563710 \|C16.320.290/C563710
Synonyms:
Slim Mappings:	Eye disease\|Genetic disease (inborn)
Reference:	MedGen: C563710 MeSH: C563710 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants