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 lipomatous neoplasm (MONDO:0044983)
..Starting node ..lipoma ()
Child Nodes:
........angiolipoma ()
........axillary lipoma ()
........breast lipoma ()
........central nervous system lipoma ()
........chest wall lipoma ()
........chondroid lipoma ()
........colorectal lipoma ()
........conventional lipoma ()
........endobronchial lipoma ()
........esophageal lipoma ()
........external ear lipoma ()
........familial multiple lipomatosis ()
........gallbladder lipoma ()
........heart lipoma ()
........hibernoma ()
........infiltrating lipoma ()
........internal auditory canal lipoma ()
........kidney lipoma ()
........lipoma of face ()
........lipoma of stomach ()
........liver lipoma ()
........lumbosacral lipoma ()
........paratesticular lipoma ()
........pleomorphic lipoma ()
........pleural lipoma ()
........skin lipoma ()
........spindle cell lipoma ()
........tendon sheath lipoma ()
........thymus lipoma ()
........tonsillar lipoma ()
Sister Nodes:
..lipoblastoma ()
..lipoma ()
..lipomatosis ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	5106
Name:	lipoma
Definition:	A benign, usually painless, well-circumscribed lipomatous tumor composed of adipose tissue.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	benign lipomatous tumor; benign tumor of adipose tissue; lipoma; lipoma, benign; lipomatosis, familial multiple; lipomatous neoplasm; lipomatous neoplasm (morphologic abnormality); lipomatous tumor; multiple lipomatosis; tumor of adipose tissue
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal