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: disease of facial skeleton (MONDO:0023369)
Parent Node: sella turcica neoplasm (MONDO:0002720)
..Starting node ..tuberculum sellae meningioma ()
Child Nodes:
Sister Nodes:
..craniopharyngioma ()
..diaphragma sellae meningioma ()
..pituitary tumor ()
..tuberculum sellae meningioma ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	4339
Name:	tuberculum sellae meningioma
Definition:	A meningioma that affects the tuberculum sellae.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	meningioma of the tuberculum sellae; meningioma of tuberculum sellae; sella turcica neoplasm of tuberculum sellae; tuberculum sellae sella turcica neoplasm
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal