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: Leydig cell tumor (MONDO:0006266)
Parent Node: reproductive system cancer (MONDO:0002149)
..Starting node ..malignant Leydig cell tumor ()
Child Nodes:
........malignant testicular Leydig cell tumor ()
Sister Nodes:
..Buschke Lowenstein tumor ()
..female reproductive organ cancer ()
..gonadoblastoma ()
..male reproductive organ cancer ()
..malignant Leydig cell tumor ()
..malignant Sertoli cell tumor ()
..prepuce cancer ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	377
Name:	malignant Leydig cell tumor
Definition:	A Leydig cell tumor characterized by large tumor size, the presence of cytologic atypia, increased mitotic activity, necrosis, and vascular invasion. Approximately 10% of the testicular Leydig cell tumors show malignant characteristics and metastasize. Leydig cell tumors of the ovary follow a benign clinical course.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	cancer of Leydig cell; Leydig cell cancer; Leydig cell tumor, malignant; malignant interstitial cell neoplasm; malignant interstitial cell tumor; malignant Leydig cell neoplasm; malignant neoplasm of Leydig cell
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
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