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: integumentary system benign neoplasm (MONDO:0000652)
Parent Node: skin neoplasm (MONDO:0002531)
..Starting node ..benign neoplasm of skin ()
Child Nodes:
........bacillary angiomatosis ()
........benign epithelial skin neoplasm ()
........benign eyelid neoplasm ()
........benign neoplasm of sebaceous gland ()
........benign neoplasm of sweat gland ()
........encephalocraniocutaneous lipomatosis ()
........leiomyoma cutis ()
........lentigo ()
........melanocytic nevus ()
........myofibromatosis ()
........skin lipoma ()
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:	21440
Name:	benign neoplasm of skin
Definition:	A benign neoplasm that involves the zone of skin.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	benign cutaneous neoplasm; benign cutaneous tumor; benign neoplasm of the skin; benign skin neoplasm; benign skin tumor; benign tumor of skin; benign tumor of the skin; skin neoplasms, benign; zone of skin benign neoplasm
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal