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: salivary gland disease (MONDO:0001142)
..Starting node ..sialolithiasis ()
Child Nodes:
Sister Nodes:
..benign lymphoepithelial lesion of salivary gland ()
..mucocele of salivary gland ()
..necrotizing sialometaplasia ()
..parotid disease ()
..sialadenitis ()
..sialolithiasis ()
..Sjogren syndrome ()
..submandibular gland disease ()
..tumor of salivary gland ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	6970
Name:	sialolithiasis
Definition:	A concretion in the salivary gland.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	salivary gland Stone; sialolith; Stone of salivary gland or duct
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes: CASK;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal