Human Gene Set: HP_NEURAL_TUBE_DEFECT


Standard name HP_NEURAL_TUBE_DEFECT
Systematic name M47330
Brief description Neural tube defect
Full description or abstract 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. [https://orcid.org/0000-0002-0736-9199, PMID:19808787]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0045005
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0045005
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Source species Homo sapiens
Contributed by Human Phenotype Ontology Group (The Jackson Laboratory (JAX))
Source platform or
identifier namespace		 Human_NCBI_Gene_ID
Dataset references  
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NCI-60 cell lines (National Cancer Institute)
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Version history 2024.1.Hs: Updated to HPO Release 2024-04-26.

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