Spina bifida occulta

Summary

Spina bifida occulta (MONDO:0000859) is a disease and 1 clinical trial. A subtype of spina bifida — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• ClinVar variants: 1
• Clinical trials: 1

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	spina bifida occulta
Mondo ID	MONDO:0000859
MeSH	D016136
Orphanet	645202
DOID	DOID:0080073
ICD-10-CM	Q76.0
ICD-11	449489594
NCIT	C101044
SNOMED CT	76916001
UMLS	C0080174
MedGen	36380
Is cancer (heuristic)	no

Also known as: closed spinal dysraphism · spina bifida occulta · spina bifida occulta (disease)

Data availability: 1 ClinVar variant · 1 HPO phenotype.

Disease family

This is a subtype of spina bifida. 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 › spina bifida occulta

Related subtypes (1): isolated spina bifida

Subtypes (2): dysraphism with stalk, dysraphic spinal cord lipoma

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

ClinVar germline variants

1 retrieved; paginated sample, class counts are floors:

1 pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
267848	46;XY;t(3;10)(p26.3;q26.3)dn		Pathogenic	criteria provided, single submitter

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: 1.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT05163899	Not specified	RECRUITING	Investigation of Surgical Sectioning of the Filum Terminale in Treating Occult Tethered Cord Syndrome Patients