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: benign neoplasm (MONDO:0005165)
Parent Node: nervous system neoplasm (MONDO:0021248)
..Starting node ..nervous system benign neoplasm ()
Child Nodes:
........arteriovenous malformations of the brain ()
........benign glioma ()
........central nervous system organ benign neoplasm ()
........Cobb syndrome ()
........hemangioblastoma ()
........neurocutaneous melanocytosis ()
........phakomatosis pigmentokeratotica ()
........sensory organ benign neoplasm ()
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:	648
Name:	nervous system benign neoplasm
Definition:	Abnormal growth of cells in the nervous system without evidence of malignant characteristics. Unlike other organ systems, tumors in the central nervous system can have benign histological characteristics but still have life threatening effects due to their location within the neuraxis (e.g., brainstem gliomas).
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	benign neoplasm of nervous system; benign neoplasm of the nervous system; benign nervous system neoplasm; benign nervous system tumor; benign tumor of nervous system; benign tumor of the nervous system; nervous system benign neoplasm; nervous system neoplasm, benign
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
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