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Disease Browser
Parent Node: Heart Defects, Congenital (D006330)
Parent Node: Vascular Malformations (D054079)
..Starting node ..Distichiasis with Congenital Anomalies of the Heart and Peripheral Vasculature (C565092)
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:

3420

Name:

Distichiasis with Congenital Anomalies of the Heart and Peripheral Vasculature

Definition:

Alternative IDs:

ParentIDs:

MESH:D006330|MESH:D054079

TreeNumbers:

C14.240.400/C565092 |C14.240.850/C565092 |C14.280.400/C565092 |C16.131.240.400/C565092 |C16.131.240.850/C565092

Synonyms:

Slim Mappings:

Cardiovascular disease|Congenital abnormality

Reference:

MedGen: C565092
MeSH: C565092
OMIM: 126320;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0009743	Distichiasis
3	HP:0001643	Patent ductus arteriosus
4	HP:0010741	Pedal edema
5	HP:0004950	Peripheral arterial stenosis
6	HP:0001688	Sinus bradycardia
7	HP:0002619	Varicose veins
8	HP:0001629	Ventricular septal defect

Disease Causing ClinVar Variants