Ovarian gonadoblastoma
diseaseOn this page
Also known as GBYgonadoblastomagonadoblastoma of ovaryovarian gonadoblastoma (disease)ovary gonadoblastoma
Summary
Ovarian gonadoblastoma (MONDO:0002697) is a disease. A subtype of gonadoblastoma — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Phenotypes (HPO): 11
Clinical features
Signs & symptoms
Clinical features (HPO)
11 HPO clinical features (Orphanet curated; top 11 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000137 | Abnormality of the ovary | Very frequent (80-99%) |
| HP:0000149 | Ovarian gonadoblastoma | Very frequent (80-99%) |
| HP:0008730 | Female external genitalia in individual with 46,XY karyotype | Very frequent (80-99%) |
| HP:0008723 | Gonadal dysgenesis with female appearance, male | Frequent (30-79%) |
| HP:0008703 | Gonadal calcification | Frequent (30-79%) |
| HP:0100621 | Dysgerminoma | Frequent (30-79%) |
| HP:0000062 | Ambiguous genitalia | Occasional (5-29%) |
| HP:0001007 | Hirsutism | Occasional (5-29%) |
| HP:0002027 | Abdominal pain | Occasional (5-29%) |
| HP:0003270 | Abdominal distention | Occasional (5-29%) |
| HP:0030088 | Increased serum testosterone level | Occasional (5-29%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | ovarian gonadoblastoma |
| Mondo ID | MONDO:0002697 |
| OMIM | 424500 |
| Orphanet | 206484 |
| DOID | DOID:3578 |
| ICD-11 | 1564602847 |
| NCIT | C39985 |
| SNOMED CT | 716594002 |
| UMLS | C1518716 |
| MedGen | 309510 |
| GARD | 0017100 |
| Anatomy (UBERON) | UBERON:0000992 |
| Is cancer (heuristic) | no |
Also known as: GBY · gonadoblastoma · gonadoblastoma of ovary · ovarian gonadoblastoma · ovarian gonadoblastoma (disease) · ovary gonadoblastoma
Data availability: 1 HPO phenotype.
Disease family
This is a subtype of gonadoblastoma. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › cancer › reproductive system cancer › gonadoblastoma › ovarian gonadoblastoma
Related subtypes (1): testicular gonadoblastoma
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.