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: Vascular Diseases (D014652)
Parent Node: Vascular Malformations (D054079)
..Starting node ..Arteriovenous Malformations (D001165)
Child Nodes:
........Arteriovenous Fistula (D001164) 3
........Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth (C567763)
........Capillary Malformation-Arteriovenous Malformation (C564254)
........Intracranial Arteriovenous Malformations (D002538) 3
........Spinal Arterial Venous Malformations with Cutaneous Hemangiomas (C566282)
........Venous Malformations, Multiple Cutaneous and Mucosal (C563977)
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:	889
Name:	Arteriovenous Malformations
Definition:	Abnormal formation of blood vessels that shunt arterial blood directly into veins without passing through the CAPILLARIES. They usually are crooked, dilated, and with thick vessel walls. A common type is the congenital arteriovenous fistula. The lack of blood flow and oxygen in the capillaries can lead to tissue damage in the affected areas.
Alternative IDs:
ParentIDs:	MESH:D014652\|MESH:D054079
TreeNumbers:	C14.240.850.750 \|C14.907.150 \|C16.131.240.850.750
Synonyms:	Arteriovenous Malformation \|Malformation, Arteriovenous \|Malformations, Arteriovenous
Slim Mappings:	Cardiovascular disease\|Congenital abnormality
Reference:	MedGen: D001165 MeSH: D001165 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants