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: intestinal motility disease (MONDO:0021189)
Parent Node: neurocristopathy (MONDO:0021635)
Parent Node: pigmentation disorder with eye involvement, excluding albinism (MONDO:0020276)
Parent Node: Waardenburg syndrome (MONDO:0018094)
..Starting node ..Waardenburg-Shah syndrome ()
Child Nodes:
........Waardenburg syndrome type 4A ()
........Waardenburg syndrome type 4B ()
........Waardenburg syndrome type 4C ()
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:	19518
Name:	Waardenburg-Shah syndrome
Definition:	Waardenburg-Shah syndrome (WSS) is a neurocristopathy characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities; see this term) and Hirschsprung disease (see this term).
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	Hirschsprung disease with pigmentary anomaly; Shah-Waardenburg syndrome; Waardenburg syndrome type 4; Waardenburg syndrome type IV; Waardenburg-Hirschsprung disease; Waardenburg-Hirschsprung syndrome; Waardenburg-Shah syndrome; WS4
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
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