MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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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

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: Waardenburg syndrome (MONDO:0018094)
..Starting node ..Waardenburg syndrome type 2 ()
Child Nodes:
........Waardenburg syndrome type 2A ()
........Waardenburg syndrome type 2B ()
........Waardenburg syndrome type 2C ()
........Waardenburg syndrome type 2D ()
........Waardenburg syndrome type 2E ()
Sister Nodes:
..ocular albinism with congenital sensorineural deafness ()
..Waardenburg syndrome type 1 ()
..Waardenburg syndrome type 2 ()
..Waardenburg syndrome type 3 ()
..Waardenburg-Shah syndrome ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	19517
Name:	Waardenburg syndrome type 2
Definition:	Waardenburg syndrome type 2 (WS2) is an autosomal dominant subtype of Waardenburg syndrome (WS; see this term), characterized by varying degrees of deafness and pigmentation anomalies of eyes, hair and skin, but without dystopia canthorum.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	Waardenburg syndrome type II; WS 2; WS type 2; WS2
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal