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: face disease (MONDO:0044987)
Parent Node: salivary gland disease (MONDO:0001142)
..Starting node ..parotid disease ()
Child Nodes:
........parotid gland neoplasm ()
........parotitis ()
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:	5899
Name:	parotid disease
Definition:	A disease involving the parotid gland.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	disease of parotid gland; disease or disorder of parotid gland; disorder of parotid gland; disorder of parotid gland; parotid gland disease; parotid gland disease or disorder
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes: IRAK4;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal