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: inflammatory disease (MONDO:0021166)
Parent Node: mouth disease (MONDO:0006858)
Parent Node: upper respiratory tract disease (MONDO:0004867)
..Starting node ..uvulitis ()
Child Nodes:
Sister Nodes:
..acute laryngopharyngitis ()
..adenoid hypertrophy ()
..epiglottitis ()
..laryngeal disease ()
..nasal cavity disease ()
..nasopharyngeal disease ()
..pharyngitis ()
..tonsillitis ()
..tracheal 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:	739
Name:	uvulitis
Definition:	Inflammation of the uvula.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	acute uvulitis; inflammation of palatine uvula; palatine uvula inflammation
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes: HTR2A;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal