Embryonal extrahepatic bile duct rhabdomyosarcoma

Summary

Embryonal extrahepatic bile duct rhabdomyosarcoma (MONDO:0002576) is a disease. A subtype of extrahepatic bile duct rhabdomyosarcoma — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	embryonal extrahepatic bile duct rhabdomyosarcoma
Mondo ID	MONDO:0002576
DOID	DOID:3253
NCIT	C5847
UMLS	C1333505
MedGen	234244
GARD	0023171
Anatomy (UBERON)	UBERON:0003703
Is cancer (heuristic)	no

Also known as: embryonal extrahepatic bile duct rhabdomyosarcoma · embryonal rhabdomyosarcoma (disease) of extrahepatic bile duct · embryonal rhabdomyosarcoma of extrahepatic bile duct · embryonal rhabdomyosarcoma of the extrahepatic bile duct · extrahepatic bile duct embryonal rhabdomyosarcoma · extrahepatic bile duct embryonal rhabdomyosarcoma (disease)

Disease family

This is a subtype of extrahepatic bile duct rhabdomyosarcoma. 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 body system or component › digestive system disorder › digestive system cancer › liver cancer › liver sarcoma › liver rhabdomyosarcoma › extrahepatic bile duct rhabdomyosarcoma › embryonal extrahepatic bile duct rhabdomyosarcoma

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.