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: disease of facial skeleton (MONDO:0023369)
Parent Node: peripheral nerve schwannoma (MONDO:0004820)
Parent Node: skull neoplasm (MONDO:0024653)
..Starting node ..schwannoma of jugular foramen ()
Child Nodes:
Sister Nodes:
..anterior cranial fossa meningioma ()
..cranial nodular fasciitis ()
..jugular foramen meningioma ()
..middle cranial fossa meningioma ()
..neoplasm of jaw ()
..orbit neoplasm ()
..paranasal sinus neoplasm (disease) ()
..posterior cranial fossa meningioma ()
..schwannoma of jugular foramen ()
..skull base neoplasm ()
..skull cancer ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	3980
Name:	schwannoma of jugular foramen
Definition:	A rare intracranial schwannoma that affects the jugular foramen.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	jugular Foramen neurilemmoma; jugular foramen schwannoma; neurilemmoma of jugular Foramen; neurilemmoma of the jugular Foramen; schwannoma of the jugular Foramen
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes: SCN9A;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal