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: sebaceous gland neoplasm (MONDO:0006963)
..Starting node ..benign neoplasm of sebaceous gland ()
Child Nodes:
........Muir-Torre syndrome ()
Sister Nodes:
..benign neoplasm of sebaceous gland ()
..palpebral sebaceous gland tumor ()
..sebaceous adenoma ()
..sebaceous gland cancer ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	21490
Name:	benign neoplasm of sebaceous gland
Definition:	A benign neoplasm that involves the sebaceous gland.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	benign neoplasm of the sebaceous gland; benign sebaceous gland neoplasm; benign sebaceous gland tumor; benign sebaceous neoplasm; benign sebaceous skin neoplasm; benign sebaceous skin tumor; benign sebaceous tumor; benign tumor of sebaceous gland; benign tumor of the sebaceous gland; sebaceous gland
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal