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: bone benign neoplasm (MONDO:0000631)
Parent Node: respiratory system benign neoplasm (MONDO:0000382)
Parent Node: sensory organ benign neoplasm (MONDO:0000633)
Parent Node: sphenoidal sinus neoplasm (MONDO:0004047)
..Starting node ..benign neoplasm of sphenoidal sinus ()
Child Nodes:
........sphenoid sinus Schneiderian papilloma ()
Sister Nodes:
..benign neoplasm of sphenoidal sinus ()
..polyp of sphenoidal sinus ()
..sphenoidal sinus cancer ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	21477
Name:	benign neoplasm of sphenoidal sinus
Definition:	A non-metastasizing neoplasm that arises from the sphenoid sinus.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	benign neoplasm of sphenoid sinus; benign neoplasm of the sphenoid sinus; benign neoplasm of the sphenoidal sinus; benign sphenoid sinus neoplasm; benign sphenoid sinus tumor; benign sphenoidal sinus neoplasm; benign sphenoidal sinus tumor; benign tumor of sphenoid sinus; benign tumor of sphenoidal
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal