Neural tube defect

rare

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.

Identifiers: MONDO:0018075 Orphanet:3388
Part of: Central nervous system malformation
Also known as: NTD · spinal dysraphism

Subtypes

All diseases Rare only

Disease	ID	Subtypes	Genes
Diastematomyelia	MONDO:0009106	3
Parietal foramina	MONDO:0018953	3
Iniencephaly	MONDO:0018968	2
Chiari malformation type I	MONDO:0007316
Caudal regression sequence	MONDO:0017607
Isolated amyelia	MONDO:0017088
Lateral meningocele syndrome	MONDO:0007537		NOTCH3
Leptomyelolipoma	MONDO:0017084
Lipomyelomeningocele	MONDO:0012296
Neurenteric cyst	MONDO:0017087
Primary tethered cord syndrome	MONDO:0017086
Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome	MONDO:0014314		TBXT

Rare disease

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