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: epithelial neoplasm (MONDO:0005626)
Parent Node: skin neoplasm (MONDO:0002531)
..Starting node ..epithelial skin neoplasm ()
Child Nodes:
........benign epithelial skin neoplasm ()
........keratoacanthoma ()
........sebaceous adenoma ()
........skin carcinoma ()
........sweat gland adenoma ()
Sister Nodes:
..actinic keratosis (disease) ()
..benign dermal neurilemmoma ()
..benign neoplasm of skin ()
..calcifying epithelial odontogenic tumor ()
..cutaneous ganglioneuroma ()
..dermis tumor ()
..dermoid cyst of skin ()
..epidermal appendage tumor ()
..epithelial skin neoplasm ()
..eyelid neoplasm ()
..familial Dupuytren contracture ()
..hemangiopericytoma of skin ()
..inherited skin tumor ()
..melanocytic skin neoplasm ()
..skin cancer ()
..skin tag ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	21634
Name:	epithelial skin neoplasm
Definition:	A epithelial neoplasm that involves the zone of skin.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	epithelial skin neoplasm; epithelial skin tumor; skin epithelium neoplasm; skin epithelium tumor; zone of skin epithelial neoplasm
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal