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 neoplasm (MONDO:0019060)
Parent Node: head and neck neoplasm (MONDO:0005586)
Parent Node: skull disorder (MONDO:0024654)
..Starting node ..skull neoplasm ()
Child 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 ()
Sister Nodes:
..disease of facial skeleton ()
..paranasal sinus disease ()
..skull neoplasm ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	24653
Name:	skull neoplasm
Definition:	A benign or malignant neoplasm that affects the bones and structures of the skull.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	neoplasm of skull; neoplasm of the skull; skull neoplasm; skull tumor; tumor of skull; tumor of the skull
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal