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: cancer (MONDO:0004992)
Parent Node: nervous system neoplasm (MONDO:0021248)
..Starting node ..nervous system cancer ()
Child Nodes:
........adrenal gland neuroblastoma ()
........central nervous system cancer ()
........cutaneous neuroendocrine carcinoma ()
........ectomesenchymoma ()
........peripheral nervous system cancer ()
........sensory system cancer ()
........yolk sac tumor of central nervous system ()
Sister Nodes:
..central nervous system neoplasm ()
..deafness-lymphedema-leukemia syndrome ()
..Hoyeraal-Hreidarsson syndrome ()
..nervous system benign neoplasm ()
..nervous system cancer ()
..neuroepithelial neoplasm ()
..pelvis syndrome ()
..peripheral nervous system neoplasm ()
..primary germ cell tumor of central nervous system ()
..retina neoplasm ()
..tumor of cranial and spinal nerves ()
..Turcot syndrome with polyposis ()
..von Hippel-Lindau disease ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	5872
Name:	nervous system cancer
Definition:	A primary or metastatic malignant neoplasm involving the nervous system.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	cancer of nervous system; malignant neoplasm of nervous system; malignant neoplasm of the nervous system; malignant nervous system neoplasm; malignant nervous system tumor; malignant tumor of nervous system; malignant tumor of the nervous system; neoplasm of nervous system; nervous system cancer; ne
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal