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: gonadoblastoma (MONDO:0010768)
Parent Node: testicular cancer (MONDO:0005447)
..Starting node ..testicular gonadoblastoma (disease) ()
Child Nodes:
Sister Nodes:
..malignant Sertoli-Leydig cell tumor ()
..malignant testicular germ cell tumor ()
..malignant testicular Leydig cell tumor ()
..malignant tumor of undescended testis ()
..rete testis adenocarcinoma ()
..seminal vesicle adenocarcinoma ()
..testicular gonadoblastoma (disease) ()
..testicular leukemia ()
..testicular lymphoma ()
..testis sarcoma ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	2698
Name:	testicular gonadoblastoma (disease)
Definition:	A testicular mixed germ cell-sex cord-stromal tumor. It is usually associated with mixed gonadal dysgenesis and ambiguous genitalia. It is characterized by the presence of nests of large neoplastic germ cells and immature cells that resemble Sertoli cells.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	gonadoblastoma of testis; testicular gonadoblastoma; testis gonadoblastoma
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal