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)
Parent Node: rare maxillo-facial surgical disease (MONDO:0019038)
..Starting node ..oral submucous fibrosis ()
Child Nodes:
Sister Nodes:
..cleft lip with or without cleft palate ()
..cleft palate ()
..facial cleft ()
..hypoglossia/aglossia ()
..macroglossia ()
..myospherulosis ()
..oral submucous fibrosis ()
..otomandibular dysplasia ()
..paralytic facial malformation ()
..syndrome or malformation associated with head and neck malformations ()
..temporomandibular joint anomaly ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	18166
Name:	oral submucous fibrosis
Definition:	Oral submucous fibrosis (OSMF) is a chronic, progressive disease that alters the fibroelasticity of the oral submucosa, prevalent in India and Southeast Asia but rare elsewhere, and characterized by burning and pain in the oral cavity, loss of gustatory sensation, the presence of blanched fibrous bands and stiffening of the oral mucosa and oro-pharynx (leading to trismus and a progressive reduction in mouth opening) and an increased risk of developing oral squamous cell cancer (3-19%). It is usually associated with the chewing of the areca nut (an ingredient in betel quid) but the exact etiology is unknown and there is currently no effective treatment.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	oral cavity submucous fibrosis; oral submucosal fibrosis; oral submucosal fibrosis, including of tongue; OSMF
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal