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 ..submandibular gland disease ()
Child Nodes:
........submandibular adenitis ()
........submandibular gland neoplasm ()
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:	1597
Name:	submandibular gland disease
Definition:	A disease involving the submandibular gland.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	disease of submandibular gland; disease or disorder of submandibular gland; disorder of submandibular gland; disorder of submandibular gland; submandibular gland disease; submandibular gland disease or disorder
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal