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 neoplasm of skin (MONDO:0021440)
Parent Node: melanocytic skin neoplasm (MONDO:0021583)
..Starting node ..melanocytic nevus ()
Child Nodes:
........Angora hair nevus ()
........Becker nevus syndrome ()
........benign melanocytic skin nevus ()
........blue nevus ()
........child syndrome ()
........CLOVES syndrome ()
........congenital panfollicular nevus (disease) ()
........conjunctival nevus ()
........didymosis aplasticosebacea ()
........epidermal nevus syndrome ()
........giant congenital nevus ()
........halo nevus ()
........hereditary mucosal leukokeratosis ()
........intradermal nevus ()
........large congenital melanocytic nevus ()
........linear verrucous nevus syndrome ()
........neurocutaneous melanocytosis ()
........neutrophil actin dysfunction ()
........Nevada syndrome ()
........nevus comedonicus syndrome ()
........nevus of Ito ()
........nevus of Ota ()
........nevus, epidermal ()
........palpebral nevus ()
........PENS syndrome ()
........phakomatosis pigmentokeratotica ()
........pigmented spindle cell nevus ()
........porokeratotic eccrine ostial and dermal duct nevus ()
........scalp syndrome ()
........segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome ()
Sister Nodes:
..cutaneous melanoma (disease) ()
..melanocytic nevus ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	5073
Name:	melanocytic nevus
Definition:	A neoplasm composed of melanocytes that usually appears as a dark spot on the skin.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	melanocytic Nevus; melanotic Nevus; mole; mole of skin; nevus
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes: HNF1A;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal