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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: Epilepsy (D004827)
Parent Node: Retinal Degeneration (D012162)
..Starting node ..Retinal Degeneration and Epilepsy (C564847)
Child Nodes:
Sister Nodes:
..Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration (C565594)
..Enhanced S-Cone Syndrome (C564835)
..Hyaloideoretinal degeneration of Wagner (C536075)
..Joubert syndrome 4 (C536296)
..Late-Onset Retinal Degeneration (C565309)
..Lattice Degeneration of Retina Leading to Retinal Detachment (C563633)
..MacKay Shek Carr syndrome (C538364)
..Macular Degeneration (D008268) 28
..Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies (C566884)
..Noble Bass Sherman syndrome (C536124)
..Pigmented Paravenous Chorioretinal Atrophy (C566801)
..Retinal Cone Dystrophy 1 (C566719)
..Retinal Degeneration and Epilepsy (C564847)
..Retinal Degeneration, Autosomal Recessive, Clumped Pigment Type (C563527)
..Retinal Drusen (D015593) 2
..Retinal Dystrophies (D058499) 143
..Retinoschisis (D041441) 1
..Snowflake vitreoretinal degeneration (C536677)
..Spastic paraplegia 15, autosomal recessive (C536642)
..Sveinsson Chorioretinal Atrophy (C566236)
..Vitreoretinochoroidopathy (C536352)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

9715

Name:

Retinal Degeneration and Epilepsy

Definition:

Alternative IDs:

ParentIDs:

MESH:D004827|MESH:D012162

TreeNumbers:

C10.228.140.490/C564847 |C11.768.585/C564847

Synonyms:

Slim Mappings:

Eye disease|Nervous system disease

Reference:

MedGen: C564847
MeSH: C564847
OMIM: 267740;

Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000546	Retinal degeneration
3	HP:0001250	Seizure

Disease Causing ClinVar Variants