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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: Brachydactyly (D059327)
Parent Node: Hearing Loss, Sensorineural (D006319)
Parent Node: Heart Septal Defects, Ventricular (D006345)
..Starting node ..Brachydactyly, Intraventricular Septal Defect, And Deafness (C566521)
Child Nodes:
Sister Nodes:
..Aneurysm Of Interventricular Septum (C563239)
..Brachydactyly, Intraventricular Septal Defect, And Deafness (C566521)
..Floating-harbor syndrome (C537062)
..Hirschsprung Disease with Ulnar Polydactyly, Polysyndactyly of Big Toes, and Ventricular Septal Defect (C565517)
..Laurence Prosser Rocker syndrome (C537882)
..Partial atrioventricular canal (C536112)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	1407
Name:	Brachydactyly, Intraventricular Septal Defect, And Deafness
Definition:
Alternative IDs:
ParentIDs:	MESH:D000015\|MESH:D006319\|MESH:D006345\|MESH:D059327
TreeNumbers:	C05.660.585.262/C566521 \|C09.218.458.341.887/C566521 \|C10.597.751.418.341.887/C566521 \|C14.240.400.560.540/C566521 \|C14.280.400.560.540/C566521 \|C16.131.077/C566521 \|C16.131.240.400.560.540/C566521 \|C16.131.621.585.262/C566521 \|C23.888.592.763.393.341.887/C56652
Synonyms:
Slim Mappings:	Cardiovascular disease\|Congenital abnormality\|Ear-nose-throat disease\|Musculoskeletal disease\|Nervous system disease\|Signs and symptoms
Reference:	MedGen: C566521 MeSH: C566521 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants