Disease browser and phenotype portal

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MSeqDR-LSDB
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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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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Arterial Occlusive Diseases (D001157)
Parent Node: Retinal Diseases (D012164)
..Starting node ..Retinal Artery Occlusion (D015356)
Child Nodes:
........Susac Syndrome (D055955)
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:	9708
Name:	Retinal Artery Occlusion
Definition:	Sudden ISCHEMIA in the RETINA due to blocked blood flow through the CENTRAL RETINAL ARTERY or its branches leading to sudden complete or partial loss of vision, respectively, in the eye.
Alternative IDs:
ParentIDs:	MESH:D001157\|MESH:D012164
TreeNumbers:	C11.768.400 \|C14.907.137.780
Synonyms:	Branch Retinal Artery Occlusion \|Central Retinal Artery Occlusion \|Occlusion, Retinal Artery \|Occlusions, Retinal Artery \|Retinal Artery Occlusions
Slim Mappings:	Cardiovascular disease\|Eye disease
Reference:	MedGen: D015356 MeSH: D015356 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants