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: uterine corpus leiomyoma (MONDO:0007886)
..Starting node ..uterine corpus epithelioid leiomyoma ()
Child Nodes:
Sister Nodes:
..submucous uterine fibroid ()
..subserous uterine fibroid ()
..uterine corpus apoplectic leiomyoma ()
..uterine corpus bizarre leiomyoma ()
..uterine corpus cellular leiomyoma ()
..uterine corpus dissecting leiomyoma ()
..uterine corpus epithelioid leiomyoma ()
..uterine corpus leiomyomatosis ()
..uterine corpus lipoleiomyoma ()
..uterine corpus myxoid leiomyoma ()
..uterus interstitial leiomyoma ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	1841
Name:	uterine corpus epithelioid leiomyoma
Definition:	A morphologic variant of uterine corpus leiomyoma characterized by the presence of round or polygonal epithelioid smooth muscle cells forming clusters.
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Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal