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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: Retinal Degeneration (D012162)
Parent Node: Retinal Detachment (D012163)
..Starting node ..Lattice Degeneration of Retina Leading to Retinal Detachment (C563633)
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:

6239

Name:

Lattice Degeneration of Retina Leading to Retinal Detachment

Definition:

Alternative IDs:

ParentIDs:

MESH:D012162|MESH:D012163

TreeNumbers:

C11.768.585/C563633 |C11.768.648/C563633

Synonyms:

Slim Mappings:

Eye disease

Reference:

MedGen: C563633
MeSH: C563633
OMIM: 150500;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0007992	Lattice retinal degeneration
3	HP:0000541	Retinal detachment

Disease Causing ClinVar Variants