Human Phenotype Ontology / 人类表型本体

Last uploaded: September 7, 2023
Preferred Name

Neural tube defect

Synonyms

Abnormality of neural tube closure

Definitions

A neural tube defect arises when the neural tube, the embryonic precursor of the brain and spinal cord, fails to close during neurulation. The cranial region (anencephaly) or the low spine (open spina bifida; myelomeningocele) are most commonly affected although, in the severe NTD craniorachischisis, almost the entire neural tube remains open, from midbrain to low spine.

ID

http://purl.obolibrary.org/obo/HP_0045005

creator

https://orcid.org/0000-0002-5316-1399

database_cross_reference

MSH:D009436

SNOMEDCT_US:253098009

UMLS:C0027794

definition

A neural tube defect arises when the neural tube, the embryonic precursor of the brain and spinal cord, fails to close during neurulation. The cranial region (anencephaly) or the low spine (open spina bifida; myelomeningocele) are most commonly affected although, in the severe NTD craniorachischisis, almost the entire neural tube remains open, from midbrain to low spine.

has_exact_synonym

Abnormality of neural tube closure

has_obo_namespace

human_phenotype

id

HP:0045005

label

Neural tube defect

notation

HP:0045005

prefLabel

Neural tube defect

treeView

http://purl.obolibrary.org/obo/HP_0410043

subClassOf

http://purl.obolibrary.org/obo/HP_0410043

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