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

Hearing Loss Disease Portal

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

Disease Browser
Parent Node: Lung Diseases (D008171)
Parent Node: Respiratory System Abnormalities (D015619)
Parent Node: Vascular Diseases (D014652)
Parent Node: Vascular Malformations (D054079)
..Starting node ..Scimitar Syndrome (D012587)
Child Nodes:
........Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities (C564262)
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:

10050

Name:

Scimitar Syndrome

Definition:

An anomalous pulmonary venous return in which the right PULMONARY VEIN is not connected to the LEFT ATRIUM but to the INFERIOR VENA CAVA. Scimitar syndrome is named for the crescent- or Turkish sword-like shadow in the chest radiography and is often associated with hypoplasia of the right lung and right pulmonary artery, and dextroposition of the heart.

Alternative IDs:

OMIM:106700

ParentIDs:

MESH:D008171|MESH:D014652|MESH:D015619|MESH:D054079

TreeNumbers:

C08.381.844 |C08.695.815 |C14.240.850.968 |C14.907.780 |C16.131.240.850.937 |C16.131.740.815

Synonyms:

Slim Mappings:

Cardiovascular disease|Congenital abnormality|Respiratory tract disease

Reference:

MedGen: D012587
MeSH: D012587
OMIM: 106700;

Genes: TAPVR1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0008386	Aplasia/Hypoplasia of the nails
3	HP:0002092	Pulmonary arterial hypertension
4	HP:0002205	Recurrent respiratory infections
5	HP:0009884	Tapered distal phalanges of finger	HP:0040283
6	HP:0005160	Total anomalous pulmonary venous return

Disease Causing ClinVar Variants