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: adenocarcinoma (MONDO:0004970)
Parent Node: salivary gland carcinoma (MONDO:0000521)
Parent Node: skin basal cell carcinoma (MONDO:0005341)
..Starting node ..salivary gland basal cell adenocarcinoma ()
Child Nodes:
Sister Nodes:
..adamantinoid basal cell epithelioma ()
..anal margin basal cell carcinoma ()
..basosquamous carcinoma ()
..BCC1 ()
..BCC2 ()
..BCC3 ()
..BCC4 ()
..BCC5 ()
..BCC6 ()
..external ear basal cell carcinoma ()
..follicular basal cell carcinoma ()
..infundibulocystic basal cell carcinoma ()
..metatypical basal cell carcinoma ()
..micronodular basal cell carcinoma ()
..morpheaform basal cell carcinoma ()
..nodular basal cell carcinoma ()
..penis basal cell carcinoma ()
..salivary gland basal cell adenocarcinoma ()
..sarcomatoid basal cell carcinoma ()
..scrotum basal cell carcinoma ()
..sebaceous basal cell carcinoma ()
..signet ring basal cell carcinoma ()
..skin adenoid basal cell carcinoma ()
..skin clear cell basal cell carcinoma ()
..skin cystic basal cell carcinoma ()
..skin fibroepithelial basal cell carcinoma ()
..skin infiltrative basal cell carcinoma ()
..skin pigmented basal cell carcinoma ()
..superficial multifocal basal cell carcinoma ()
..vulva basal cell carcinoma ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	6402
Name:	salivary gland basal cell adenocarcinoma
Definition:	A rare adenocarcinoma of the major and minor salivary glands, originating from basaloid, myoepithelial and ductal cells. While morphologically resembling basal cell carcinomas, it is a distinct entity. The tumor is not encapsulated, may invade locally, and less frequently may metastasize. It usually occurs in older patients.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	basal cell adenocarcinoma; basal cell adenocarcinoma of salivary gland; basal cell adenocarcinoma of the salivary gland; saliva-secreting gland skin basal cell carcinoma; salivary gland basal cell adenocarcinoma; skin basal cell carcinoma of saliva-secreting gland
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes: PLCD1;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal