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: benign neoplasm of pharynx (MONDO:0021523)
Parent Node: respiratory system benign neoplasm (MONDO:0000382)
Parent Node: tonsil neoplasm (MONDO:0021250)
..Starting node ..benign neoplasm of tonsil ()
Child Nodes:
........tonsillar lipoma ()
Sister Nodes:
..benign neoplasm of tonsil ()
..tonsil cancer ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	21513
Name:	benign neoplasm of tonsil
Definition:	A benign neoplasm that involves the tonsil.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	benign neoplasm of the tonsil; benign tonsil neoplasm; benign tonsil tumor; benign tonsillar neoplasm; benign tonsillar tumor; benign tumor of the tonsil; benign tumor of tonsil; tonsil benign neoplasm; tonsillar neoplasm, benign
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal