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: testicular sex cord-stromal neoplasm (MONDO:0003125)
..Starting node ..testicular Leydig cell tumor ()
Child Nodes:
........malignant testicular 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:	3124
Name:	testicular Leydig cell tumor
Definition:	A sex cord-stromal tumor that arises from the testis and is characterized by the presence of cells that resemble the successive stages of development of Leydig cells. It usually presents as a painless testicular mass. Gynecomastia is present in approximately thirty percent of the cases. Libido may be decreased. In children, precocious puberty may be present. A minority of cases exhibit malignant characteristics.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	Leydig cell neoplasm of testis; Leydig cell neoplasm of the testis; Leydig cell tumor of testis; Leydig cell tumor of testis; Leydig cell tumor of the testis; testicular Leydig cell neoplasm; testicular Leydig cell tumor; testis Leydig cell tumor
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal