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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: Branchio-Oto-Renal Syndrome (D019280)
..Starting node ..Branchiootic Syndrome 2 (C565171)
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:

1466

Name:

Branchiootic Syndrome 2

Definition:

Alternative IDs:

OMIM:120502

ParentIDs:

MESH:D019280

TreeNumbers:

C16.131.077.208/C565171 |C16.131.260.090/C565171 |C16.320.180.090/C565171

Synonyms:

BOS2 |BO Syndrome 2

Slim Mappings:

Congenital abnormality|Genetic disease (inborn)

Reference:

MedGen: C565171
MeSH: C565171
OMIM: 120502;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000377	Abnormality of the pinna
3	HP:0002710	Commissural lip pit
4	HP:0000365	Hearing impairment
5	HP:0004467	Preauricular pit

Disease Causing ClinVar Variants