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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 Abnormalities (D005124)
Parent Node: Vascular Malformations (D054079)
..Starting node ..Prepapillary Vascular Loops (C563287)
Child Nodes:
Sister Nodes:
..Arterial Tortuosity Syndrome (C565942)
..Arterio-Arterial Fistula (D001159) 2
..Arteriovenous Malformations (D001165) 12
..Capillary Malformations, Congenital, 1 (C562760) 1
..Central Nervous System Vascular Malformations (D020785) 10
..Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi (C567863)
..Distichiasis with Congenital Anomalies of the Heart and Peripheral Vasculature (C565092)
..Hemophilia A with Vascular Abnormality (C564415)
..May-Thurner Syndrome (D062108)
..Patent Ductus Venosus (C562830)
..Prepapillary Vascular Loops (C563287)
..Pulmonary Atresia (D018633) 2
..Scimitar Syndrome (D012587) 1
..Single Umbilical Artery (D058529)
..Splenoportal Vascular Anomalies (C562761)
..Telangiectasia, Hereditary Hemorrhagic (D013683) 4
..Vascular Fistula (D016157) 7
..Vascular Malformation, Primary Intraosseous (C564648)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

9259

Name:

Prepapillary Vascular Loops

Definition:

Alternative IDs:

ParentIDs:

MESH:D005124|MESH:D054079

TreeNumbers:

C11.250/C563287 |C14.240.850/C563287 |C16.131.240.850/C563287 |C16.131.384/C563287

Synonyms:

Preretinal Vascular Loops

Slim Mappings:

Cardiovascular disease|Congenital abnormality|Eye disease

Reference:

MedGen: C563287
MeSH: C563287
OMIM: 264060;

Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001626	Abnormality of the cardiovascular system
3	HP:0000478	Abnormality of the eye

Disease Causing ClinVar Variants