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 synovial neoplasm (MONDO:0024715)
Parent Node: lipoma (MONDO:0005106)
Parent Node: tendon sheath disorder (MONDO:0024876)
..Starting node ..tendon sheath lipoma ()
Child Nodes:
Sister Nodes:
..tendon sheath fibroma ()
..tendon sheath lipoma ()
..tenosynovial giant cell tumor ()
..tenosynovitis ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	4076
Name:	tendon sheath lipoma
Definition:	A benign tumor, composed of mature adipocytes, that arises within the tendon sheath.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	lipoma of tendon sheath; lipoma of the tendon sheath; tendon sheath lipoma
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal