Add Synonym: Anencephaly

obophenotype / human-phenotype-ontology

Ontology for the description of human clinical features

http://obophenotype.github.io/human-phenotype-ontology/

Other

289 stars 51 forks source link

Add Synonym: Anencephaly #6215

Closed callahantiff closed 4 years ago

callahantiff commented 4 years ago

HPO term Anencephaly (HP_0002323)

Synonym to be added Fetal anencephaly, Embryonic anencephaly, Neural tube defect

broad/exact/narrow/plural/abbreviation?
Broad: Neural Tube Defect
Exact:

Fetal Anencephaly
Embryonic Anencephaly

From The NIH Genetics Home Reference: https://ghr.nlm.nih.gov/condition/anencephaly

This is related to the definition request made for this term: #6214

pnrobinson commented 4 years ago

neural tube defect is too broad, ,and there are other HPO terms that would fall under it, e.g., spina bifida. It is difficult to represent this in the HPO, which does not attempt to model embryology. I added the other two synonyms.