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: diencephalic astrocytomas (MONDO:0003169)
Parent Node: optic pathway glioma (MONDO:0016167)
Parent Node: pituitary cancer (MONDO:0002109)
Parent Node: sensory system cancer (MONDO:0000649)
..Starting node ..optic tract astrocytoma ()
Child Nodes:
........childhood optic tract astrocytoma ()
........optic nerve astrocytoma ()
Sister Nodes:
..auditory system cancer ()
..malignant ear neoplasm ()
..nasal cavity cancer ()
..ocular cancer ()
..optic tract astrocytoma ()
..paranasal sinus cancer ()
..tongue cancer ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	24649
Name:	optic tract astrocytoma
Definition:	An astrocytoma that affects the optic tract. This condition can be seen in association with neurofibromatosis 1. It is most commonly seen in the pediatric age group.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	astrocytoma (excluding glioblastoma) of optic tract; optic tract astrocytoma; optic tract astrocytoma (excluding glioblastoma); visual pathway astrocytoma
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal