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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: Waardenburg Syndrome (D014849)
..Starting node ..Waardenburg Syndrome, Type 2D (C563839)
Child Nodes:
Sister Nodes:
..ABCD syndrome (C535334)
..Anophthalmos with limb anomalies (C537769)
..Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease (C563789)
..Van der Hoeve Halbertsma Waardenburg Gualdi Syndrome (C538657)
..Waardenburg syndrome type 2 (C536463)
..Waardenburg syndrome type 2A (C536464)
..Waardenburg syndrome type 2B (C536465)
..Waardenburg Syndrome, Type 2C (C564684)
..Waardenburg Syndrome, Type 2D (C563839)
..Waardenburg syndrome, type 4 (C536467) 1
..Waardenburg Syndrome, Type 4b (C567680)
..Waardenburg Syndrome, Type 4c (C567679)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

11685

Name:

Waardenburg Syndrome, Type 2D

Definition:

Alternative IDs:

OMIM:608890

ParentIDs:

MESH:D014849

TreeNumbers:

C16.131.077.938/C563839

Synonyms:

Waardenburg Syndrome, Type IID |WS2D

Slim Mappings:

Congenital abnormality

Reference:

MedGen: C563839
MeSH: C563839
OMIM: 608890;

Genes: SNAI2;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0008527	Congenital sensorineural hearing impairment
3	HP:0001100	Heterochromia iridis
4	HP:0001425	Heterogeneous
5	HP:0000506	Telecanthus

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
NG_012130.1:g.(?_5165)_(7623_?)del	6591	SNAI2	Pathogenic	-1	RCV000007932;	N	MedGen:C1837203,OMIM:608890	8	49831366	49833824	-	-		OMIM Allelic Variant:602150.0001	C1837203 608890 Waardenburg syndrome type 2D