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: nervous system cancer (MONDO:0005872)
Parent Node: sensory system disease (MONDO:0005128)
..Starting node ..sensory system cancer ()
Child Nodes:
........auditory system cancer ()
........malignant ear neoplasm ()
........nasal cavity cancer ()
........ocular cancer ()
........optic tract astrocytoma ()
........paranasal sinus cancer ()
........tongue cancer ()
Sister Nodes:
..auditory system disease ()
..disease of ear ()
..disease of visual system ()
..Holmes-Adie syndrome ()
..nose disease ()
..progressive external ophthalmoplegia ()
..sensory organ benign neoplasm ()
..sensory system cancer ()
..tongue disease ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	649
Name:	sensory system cancer
Definition:	A malignant neoplasm involving the sensory system
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	cancer of sensory system; malignant neoplasm of sensory system; malignant sensory system neoplasm; sensory system cancer
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal