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: Branchio-Oto-Renal Syndrome (D019280)
..Starting node ..Branchiootic syndrome (C537104)
Child Nodes:
Sister Nodes:
..Bor-Duane hydrocephalus contiguous gene syndrome (C536574)
..Branchiootic syndrome (C537104)
..Branchiootic Syndrome 2 (C565171)
..Branchiootic Syndrome 3 (C564248)
..Otofaciocervical Syndrome (C563481)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	1465
Name:	Branchiootic syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D019280
TreeNumbers:	C16.131.077.208/C537104 \|C16.131.260.090/C537104 \|C16.320.180.090/C537104
Synonyms:	Bos1 \|BO syndrome 1 \|Branchiootic dysplasia \|Branchiootic Syndrome 1
Slim Mappings:	Congenital abnormality\|Genetic disease (inborn)
Reference:	MedGen: C537104 MeSH: C537104 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants