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 ..necrotizing sialometaplasia ()
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:	6864
Name:	necrotizing sialometaplasia
Definition:	A benign, inflammatory, variably ulcerated, occasionally bilateral, self-healing lesion of the minor salivary glands that is often confused clinically and histologically with carcinoma.
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Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes: CEP290;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal