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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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Abnormal muscle morphology in electron microscopy #6372

Closed MLK6014 closed 3 years ago

MLK6014 commented 3 years ago

Preferred term label: Abnormal muscle morphology in electron microscopy Synonyms Abnormal muscle morphology in EM

Definition (free text, please give PubMed ID) Ultrastructural abnormalities in human skeletal muscle observed through electron microscopy.

Parent term (use hpo.jax.org/app) Abnormal skeletal muscle morphology HP:0011805

Diseases characterized by this term ? (e.g. Orphanet or OMIM number) Mitochondrial disease

Your nano-attribution (ORCID)

pnrobinson commented 3 years ago

Hi @MLK6014 -- the HPO usually does not include the type of investigation in the term, with the exception being findings that are 100% specific to a given technology, such as EEG. While there are lots of findings that can only be seen with EM, there are also many findings that can also be appreciated on routine histology. Therefore, it would not be a good term and would lead to a lot of double parentage for items that can be seen by two methods. Could I suggest instead that we develop terms for individual anomalies visible by EM? If possible add new individual term requests. Thanks!