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: fibroepithelial polyp (MONDO:0060765)
Parent Node: reactive cutaneous fibrous lesion (MONDO:0006603)
Parent Node: skin neoplasm (MONDO:0002531)
..Starting node ..skin tag ()
Child Nodes:
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:	4026
Name:	skin tag
Definition:	A small, benign growth that arises from the skin. It is characterized by the presence of fibrovascular tissue lined by epidermis. It may be sessile or pendulous and usually occurs in sites where there is friction.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	acrochordon; cutaneous fibroepithelial polyp; cutaneous tag; fibroepithelial polyp; fibroepithelial polyp of skin; fibroepithelial polyp of the skin; fibroma molle; soft fibroma
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes: EXT1;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal