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: testicular sex cord-stromal neoplasm (MONDO:0003125)
..Starting node ..Sertoli-Leydig cell tumor ()
Child Nodes:
........malignant Sertoli-Leydig cell tumor ()
Sister Nodes:
..Sertoli-Leydig cell tumor ()
..testicular fibroma ()
..testicular granulosa cell tumor ()
..testicular Leydig cell tumor ()
..testicular thecoma ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	2479
Name:	Sertoli-Leydig cell tumor
Definition:	A sex cord-gonadal stromal tumor consists of leydig cells; sertoli cells; and fibroblasts in varying proportions and degree of differentiation. Most such tumors produce androgens in the Leydig cells, formerly known as androblastoma or arrhenoblastoma. Androblastomas occur in the testis or the ovary causing precocious masculinization in the males, and defeminization, or virilization (virilism) in the females. In some cases, the Sertoli cells produce estrogens.
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Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
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