Human Gene Set: HP_ANENCEPHALY


Standard name HP_ANENCEPHALY
Systematic name M35772
Brief description Anencephaly
Full description or abstract Anencephaly is a developmental anomaly characterized by a fetus that has no calvarium, with a lack of most or all of the fetus' brain tissue. Anencephaly belongs to a collective group known as neural tube defects (NTD) and is a result of the neural tube failing to close in its rostral end during fetal development. [PMID:31424828, PMID:32706613]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0002323
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0002323
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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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GTEx compendium
Human tissue compendium (Novartis)
Global Cancer Map (Broad Institute)
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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