Disease browser and phenotype portal

Hello! Guest! Please Login or Register! Clinician Mode

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: Abnormalities, Multiple (D000015)
Parent Node: Lung Diseases (D008171)
Parent Node: Urethral Obstruction (D014524)
..Starting node ..Kashani Strom Utley syndrome (C537010)
Child Nodes:
Sister Nodes:
..Cervical ribs sprengel anomaly anal atresia urethral obstruction (C538072)
..Kashani Strom Utley syndrome (C537010)
..Selig Benacerraf Greene syndrome (C535840)
..Urethral obstruction sequence (C536477)
..Urethral Stricture (D014525)
..Urinary Bladder Neck Obstruction (D001748)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	6029
Name:	Kashani Strom Utley syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D000015\|MESH:D008171\|MESH:D014524
TreeNumbers:	C08.381/C537010 \|C12.777.767.700/C537010 \|C13.351.968.767.700/C537010 \|C16.131.077/C537010
Synonyms:	Hypoplastic pulmonary arteries and aorta with obstructive uropathy \|Pulmonary aortic stenosis obstructive uropathy
Slim Mappings:	Congenital abnormality\|Respiratory tract disease\|Urogenital disease (female)\|Urogenital disease (male)
Reference:	MedGen: C537010 MeSH: C537010 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants