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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: Abnormalities, Multiple (D000015)
Parent Node: Anus, Imperforate (D001006)
Parent Node: Urethral Obstruction (D014524)
..Starting node ..Cervical ribs sprengel anomaly anal atresia urethral obstruction (C538072)
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:	1989
Name:	Cervical ribs sprengel anomaly anal atresia urethral obstruction
Definition:
Alternative IDs:
ParentIDs:	MESH:D000015\|MESH:D001006\|MESH:D014524
TreeNumbers:	C06.198.050/C538072 \|C12.777.767.700/C538072 \|C13.351.968.767.700/C538072 \|C16.131.077/C538072 \|C16.131.314.094/C538072
Synonyms:	Cervical Ribs, Sprengel Anomaly, Anal Atresia, and Urethral Obstruction \|Cervical ribs, Sprengel anomaly, preaxial polydactyly, anal atresia, and urethral obstruction
Slim Mappings:	Congenital abnormality\|Digestive system disease\|Urogenital disease (female)\|Urogenital disease (male)
Reference:	MedGen: C538072 MeSH: C538072 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants