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 male reproductive system neoplasm (MONDO:0000625)
Parent Node: male reproductive system neoplasm (MONDO:0024582)
Parent Node: paratesticular lipoma (MONDO:0000976)
..Starting node ..lipoma of spermatic cord ()
Child Nodes:
Sister Nodes:
..lipoma of spermatic cord ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	975
Name:	lipoma of spermatic cord
Definition:	A benign adipose tissue neoplasm of the spermatic cord. This is the most common tumor amongst the benign paratesticular lesions.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	lipoma of spermatic cord; lipoma of the spermatic cord; spermatic cord lipoma
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal