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: eye neoplasm (MONDO:0021220)
Parent Node: sensory organ benign neoplasm (MONDO:0000633)
..Starting node ..benign neoplasm of eye ()
Child Nodes:
........benign conjunctival neoplasm ()
........benign eyelid neoplasm ()
........benign neoplasm of choroid ()
........benign neoplasm of cornea ()
........benign neoplasm of iris ()
........benign neoplasm of lacrimal gland ()
........benign neoplasm of retina ()
........child syndrome ()
........epidermal nevus syndrome ()
Sister 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 ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	21454
Name:	benign neoplasm of eye
Definition:	A benign neoplasm that involves the eye.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	benign eye neoplasm; benign eye tumor; benign neoplasm of the eye; benign ocular neoplasm; benign ocular tumor; benign tumor of eye; benign tumor of the eye; eye benign neoplasm
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal