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obophenotype / human-phenotype-ontology

Ontology for the description of human clinical features
http://obophenotype.github.io/human-phenotype-ontology/
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HP:0000376 and synonyms #7482

Closed maglott closed 2 years ago

maglott commented 2 years ago

HPO term Incomplete partition of the cochlea type II

Synonym to be added I see UMLS has multiple CUI for what I think may be the same concept as Mondini malformation. If you agree these are synonymous, could you add the terms to HPO as alternates? I cannot tell if there are subtle distinctions, or failure to aggregate according to clinical usage. Thanks Mondini defect (C0395941) Mondini dysplasia (C4230309) Cochlear malformation defect (Mondini dysplasia) (C5393344) broad/exact/narrow/plural/abbreviation ?

pnrobinson commented 2 years ago

@maglott sorry for the delay on this one, which is difficult. As far as I can see, the two concepts are not exactly synonymous, but the community is moving away from the "Mondini" desgination -- see for instance the Radiopedia entry Cochlear incomplete partition type II , where it is stated IP-II should not be confused with Mondini anomaly, which is a historic term for the combination of incomplete partition type II, enlarged vestibule, and large vestibular aqueduct.

However, I think these are all related synonyms that people might want to find. I will add the above as RELATED and adapt the definition.

pnrobinson commented 2 years ago

I have added this comment The triad of incomplete partition of the cochlea type II, dilation of the vestibule, and an enlarged vestibular aqueduct was previously referred to as a Mondini malformation but this nomenclature is no longer recommended. It is important to note that while reading the related literature, it is often not easy to understand if the authors use the correct terminology, so even in recent studies, the term Mondini should be considered with caution. see PMID: 34698066