MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

Hello! Guest! Please Login or Register! Clinician Mode

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: paranasal sinus squamous cell carcinoma (MONDO:0044705)
Parent Node: sphenoidal sinus cancer (MONDO:0001994)
..Starting node ..sphenoid sinus squamous cell carcinoma ()
Child Nodes:
Sister Nodes:
..sphenoid sinus squamous 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:	1995
Name:	sphenoid sinus squamous cell carcinoma
Definition:	A squamous cell carcinoma that arises from the mucosal epithelial surface of the sphenoid sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	epidermoid carcinoma of sphenoid sinus; epidermoid carcinoma of sphenoidal sinus; epidermoid carcinoma of the sphenoid sinus; epidermoid carcinoma of the sphenoidal sinus; sphenoid sinus epidermoid carcinoma; sphenoid sinus squamous cell carcinoma; sphenoidal sinus epidermoid carcinoma; sphenoidal s
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal