neural tube defect
MONDO:0018075Mondo
Findings
No curated finding names neural tube defect yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A congenital defect characterized by failure of the neural tube to close completely; this results in the presence of openings in the brain or spinal cord. Examples of neural tube defects include encephalocele and spina bifida.
Definition from the Mondo Disease Ontology (MONDO:0018075), read 2026-09-29. CC BY 4.0.
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
- A kind of
- Narrower terms (12)
- caudal regression sequence
- Chiari malformation type I
- diastematomyelia
- iniencephaly
- isolated amyelia
- lateral meningocele syndrome
- leptomyelolipoma
- lipomyelomeningocele
- neurenteric cyst
- parietal foramina
- primary tethered cord syndrome
- sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome
Other names
2 names
Resolves to: neural tube defect
- Also called
- NTDspinal dysraphism