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 epithelial neoplasm (MONDO:0036976)
Parent Node: benign neoplasm of skin (MONDO:0021440)
Parent Node: epithelial skin neoplasm (MONDO:0021634)
..Starting node ..benign epithelial skin neoplasm ()
Child Nodes:
........acanthoma (disease) ()
........breast apocrine adenoma ()
........common wart ()
........plantar wart ()
........skin hemangioma ()
........skin lymphangioma ()
........skin papilloma ()
........syringofibroadenoma ()
........trichoblastoma ()
........vulvar nodular hidradenoma ()
Sister Nodes:
..benign epithelial skin neoplasm ()
..keratoacanthoma ()
..sebaceous adenoma ()
..skin carcinoma ()
..sweat gland adenoma ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	24666
Name:	benign epithelial skin neoplasm
Definition:	A form of epithelial skin neoplasm without malignant characteristics.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	benign epithelial skin neoplasm; benign epithelial skin tumor; benign skin epithelium neoplasm; benign skin epithelium tumor; epithelial skin neoplasm, benign
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal