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: skull base meningioma (MONDO:0002998)
..Starting node ..suprasellar meningioma ()
Child Nodes:
Sister Nodes:
..cavernous sinus meningioma ()
..clivus meningioma ()
..diaphragma sellae meningioma ()
..foramen magnum meningioma ()
..multiple skull base meningioma ()
..petroclival meningioma ()
..pituitary stalk meningioma ()
..sphenocavernous meningioma ()
..sphenoorbital meningioma ()
..suprasellar meningioma ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	4312
Name:	suprasellar meningioma
Definition:	A meningioma that affects the suprasellar region.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	meningioma (disease) of sella turcica; sella turcica meningioma (disease)
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes: BCS1L;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal