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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

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Disease Browser
Parent Node: Retinal Diseases (D012164)
..Starting node ..Retinal Degeneration (D012162)
Child 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)
Sister Nodes:
..Al Gazali Sabrinathan Nair syndrome (C535617)
..Angioid Streaks (D000793)
..Ausems Wittebol-Post Hennekam syndrome (C538272)
..Bestrophinopathy (C567518)
..BESTROPHINOPATHY, AUTOSOMAL RECESSIVE (OMIM:611809)
..Bietti Crystalline Dystrophy (C535440)
..Bothnia Retinal Dystrophy (C564392)
..Central Serous Chorioretinopathy (D056833)
..Cerebroretinal Microangiopathy with Calcifications and Cysts (C567401)
..Diabetic Retinopathy (D003930) 1
..Epiretinal Membrane (D019773)
..Exudative Vitreoretinopathy 4 (C566619)
..Exudative Vitreoretinopathy 5 (C567648)
..Familial Exudative Vitreoretinopathy (C580083)
..Fleck Retina, Familial Benign (C565564)
..FLOTCH syndrome (C537065)
..Fundus Albipunctatus (C562733)
..Grouped Pigmentation of the Macula (C565530)
..Hypertensive Retinopathy (D058437)
..Iris hypoplasia and glaucoma (C535538)
..Leber Congenital Amaurosis (D057130) 20
..Microcephaly with Chorioretinopathy, Autosomal Dominant (C563583)
..Microcephaly with Chorioretinopathy, Autosomal Recessive (C565379)
..MICROPHTHALMIA, ISOLATED 5 (OMIM:611040)
..Oculomelic amyoplasia (C537737)
..Rambaud Galian syndrome (C535283)
..Ramos Arroyo Clark syndrome (C535286)
..Retinal Aplasia (C566720)
..Retinal Artery Occlusion (D015356) 1
..Retinal Degeneration (D012162) 195
..Retinal Detachment (D012163) 9
..Retinal Dysplasia (D015792) 2
..RETINAL DYSPLASIA, PRIMARY (OMIM:312550)
..Retinal Hemorrhage (D012166) 2
..Retinal Neoplasms (D019572) 3
..Retinal Neovascularization (D015861)
..Retinal Nonattachment, Nonsyndromic Congenital (C565633)
..Retinal Perforations (D012167)
..Retinal Telangiectasis (D058456) 1
..Retinal Vasculitis (D031300) 1
..Retinal Vein Occlusion (D012170)
..Retinitis (D012173) 4
..Retinopathy of Prematurity (D012178)
..Roifman syndrome (C535866)
..Stickler Syndrome, Autosomal Recessive, COL9A1-Related (C565177)
..Vasculopathy, Retinal, With Cerebral Leukodystrophy (C566007)
..Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia (C565179)
..Vitreoretinopathy, Proliferative (D018630) 5
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	9714
Name:	Retinal Degeneration
Definition:	A retrogressive pathological change in the retina, focal or generalized, caused by genetic defects, inflammation, trauma, vascular disease, or aging. Degeneration affecting predominantly the macula lutea of the retina is MACULAR DEGENERATION. (Newell, Ophthalmology: Principles and Concepts, 7th ed, p304)
Alternative IDs:
ParentIDs:	MESH:D012164
TreeNumbers:	C11.768.585
Synonyms:	Degeneration, Retinal \|Degenerations, Retinal \|Retinal Degenerations
Slim Mappings:	Eye disease
Reference:	MedGen: D012162 MeSH: D012162 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants