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: mouth disease (MONDO:0006858)
..Starting node ..salivary gland disease ()
Child 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 ()
Sister Nodes:
..adenoid hypertrophy ()
..alveolar periostitis ()
..burning mouth syndrome ()
..commissural lip fistula ()
..lichen planus, oral ()
..lip disease ()
..Ludwig's angina ()
..maxillary sinus cholesteatoma ()
..maxillary sinusitis ()
..mouth mucosa disease ()
..neoplasm of floor of mouth ()
..neoplasm of jaw ()
..odontoma ()
..oral candidiasis ()
..oral cavity neoplasm ()
..oral Crohn disease ()
..oral hairy leukoplakia ()
..oral leukoedema ()
..oral submucous fibrosis ()
..oral tuberculosis ()
..salivary gland disease ()
..tongue disease ()
..tooth disease ()
..uvulitis ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	1142
Name:	salivary gland disease
Definition:	A disease involving the saliva-secreting gland.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	disease of saliva-secreting gland; disease or disorder of saliva-secreting gland; disorder of saliva-secreting gland; disorder of saliva-secreting gland; non-neoplastic salivary gland disease; saliva-secreting gland disease; saliva-secreting gland disease or disorder; salivary gland disease; salivar
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal