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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 ..Otofaciocervical Syndrome (C563481)
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:

8461

Name:

Otofaciocervical Syndrome

Definition:

Alternative IDs:

OMIM:166780

ParentIDs:

MESH:D019280

TreeNumbers:

C16.131.077.208/C563481 |C16.131.260.090/C563481 |C16.320.180.090/C563481

Synonyms:

OFC |OFC1 |Ofc Syndrome |OTOFACIOCERVICAL SYNDROME 1

Slim Mappings:

Congenital abnormality|Genetic disease (inborn)

Reference:

MedGen: C563481
MeSH: C563481
OMIM: 166780;

Genes: EYA1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000405	Conductive hearing impairment
3	HP:0200021	Down-sloping shoulders
4	HP:0001256	Intellectual disability, mild
5	HP:0000276	Long face
6	HP:0000472	Long neck
7	HP:0000460	Narrow nose
8	HP:0004467	Preauricular pit
9	HP:0003691	Scapular winging

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar	Disease_hgmd
NM_000503.5(EYA1):c.639+1G>A	2138	EYA1	Pathogenic	869025180	RCV000008404;	N	MedGen:C1833691,OMIM:166780	8	72211872	72211872	NM_000503.5:c.639+1G>A		NC_000008.10:g.72211872C>T	OMIM Allelic Variant:601653.0014	C1833691 166780 Otofaciocervical syndrome