Congenital mitral stenosis

Summary

Congenital mitral stenosis (MONDO:0020398) is a disease. A subtype of mitral valve stenosis — 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	congenital mitral stenosis
Mondo ID	MONDO:0020398
Orphanet	99057
ICD-10-CM	Q23.2
ICD-11	2102952411
SNOMED CT	82458004
UMLS	C0158618
MedGen	57857
GARD	0001496
Is cancer (heuristic)	no

Also known as: congenital mitral stenosis · congenital mitral stenosis (disease) · congenital mitral valve stenosis · hereditary mitral valve stenosis

Data availability: 1 HPO phenotype.

Disease family

This is a subtype of mitral valve stenosis. 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 › cardiovascular disorder › heart disorder › heart valve disorder › mitral valve disorder › mitral valve stenosis › congenital mitral stenosis

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.