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: neoplasm of major salivary gland (MONDO:0021368)
Parent Node: parotid disease (MONDO:0005899)
..Starting node ..parotid gland neoplasm ()
Child Nodes:
........benign neoplasm of parotid gland ()
........parotid gland cancer ()
Sister Nodes:
..parotid gland neoplasm ()
..parotitis ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	21243
Name:	parotid gland neoplasm
Definition:	A neoplasm (disease) that involves the parotid gland.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	neoplasm of parotid; neoplasm of parotid gland; neoplasm of the parotid; neoplasm of the parotid gland; parotid gland neoplasm (disease); parotid gland tumor; parotid neoplasm; parotid tumor; tumor of parotid; tumor of parotid gland; tumor of the parotid; tumor of the parotid gland
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal