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: blastoma (MONDO:0005565)
Parent Node: gonadal disease (MONDO:0002259)
Parent Node: malignant mixed neoplasm (MONDO:0005853)
Parent Node: mixed germ cell-sex cord-stromal tumor (MONDO:0002478)
Parent Node: reproductive system cancer (MONDO:0002149)
..Starting node ..gonadoblastoma ()
Child Nodes:
........ovarian gonadoblastoma (disease) ()
........testicular gonadoblastoma (disease) ()
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:	10768
Name:	gonadoblastoma
Definition:	A mixed germ cell/sex cord-stromal tumor characterized by the presence of large germ cells which resemble seminoma cells and small cells which resemble Sertoli or granulosa cells. It occurs in the testis and the ovary and is identified in children and adults. It is often associated with gonadal dysgenesis and abnormal karyotype.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	gonad blastoma; gonadoblastoma
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal