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 benign neoplasm (MONDO:0000648)
Parent Node: sensory system disease (MONDO:0005128)
..Starting node ..sensory organ benign neoplasm ()
Child Nodes:
........benign neoplasm of ear ()
........benign neoplasm of ethmoidal sinus ()
........benign neoplasm of eye ()
........benign neoplasm of frontal sinus ()
........benign neoplasm of maxillary sinus ()
........benign neoplasm of nasal cavity ()
........benign neoplasm of sphenoidal sinus ()
........benign neoplasm of tongue ()
........paranasal sinus Schneiderian papilloma ()
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:	633
Name:	sensory organ benign neoplasm
Definition:	A benign neoplasm that involves the sense organ.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	sense organ benign neoplasm
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal