True myelomeningocele

Summary

True myelomeningocele (MONDO:0957453) is a disease. A subtype of myelomeningocele — 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	true myelomeningocele
Mondo ID	MONDO:0957453
Orphanet	645383
UMLS	C5816713
MedGen	1843418
GARD	0026834
Is cancer (heuristic)	no

Disease family

This is a subtype of myelomeningocele. 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 › nervous system disorder › congenital nervous system disorder › spina bifida › isolated spina bifida › spina bifida cystica › myelomeningocele › true myelomeningocele

Related subtypes (7): total spina bifida cystica, thoracolumbosacral spina bifida cystica, lumbosacral spina bifida cystica, cervical spina bifida cystica, cervicothoracic spina bifida cystica, upper thoracic spina bifida cystica, hemi-myelomeningocele

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.