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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:0007307 synonyms #10666

Open peupeubangbang opened 1 month ago

peupeubangbang commented 1 month ago

HPO term HP:0007307 Rapid neurologic deterioration

Synonym to be added severe neurologic deterioration, rapid neurological deterioration, severe neurological deterioration, fast progressing neurological deterioration, fast-progressing neurological deterioration, fast progressing neurologic deterioration, fast-progressing neurologic deterioration, severe rapid neurologic deterioration, rapid severe neurologic deterioration, severe and rapid neurologic deterioration, rapid and severe neurologic deterioration, severe rapid neurological deterioration, rapid severe neurological deterioration, severe and rapid neurological deterioration, rapid and severe neurological deterioration

broad/exact/narrow/plural/abbreviation ? exact

pnrobinson commented 1 month ago

@peupeubangbang This term is currently only used for one disease, Multiple sulfatase deficiency, and it is not defined. I am not sure how useful the term is, i.e., "rapid" is hard to objectify, and there are many other diseases with more or less rapid progression. Thoughts?

peupeubangbang commented 1 month ago

@pnrobinson I've been annotating the GeneReview for Krabbe disease and noticed the terms "rapid neurologic deterioration" / "severe neurologic deterioration" / "rapid severe neurologic deterioration" / "rapid and severe neurologic deterioration" being used for that and other leukodystrophies/leukoencephalopathies (e.g. Vanishing White Matter disease), lysosomal storage disorders like MPS/Farber as well as encephalopathies like Dravet syndrome.

100% agree it seems rapid or severe isn't really given a proper definition or timeline its just often used for diseases with infantile forms/early onset of progressive neurological phenotype that are severe and often fatal.

it seems the terms are a proxy for some combination of acute and progressive neurological phenotypes that cannot be reversed e.g. brain atrophy, movement disorders/cerebellar ataxia, seizures/intractable epilepsy, cognitive decline/developmental regression.

could we perhaps add these synonyms to the parent term above since this is a broad specific term? my main goal here is to help with the concept recognition by @tudorgroza. Progressive neurologic deterioration HP:0002344 already includes annotation to Krabbe disease so i feel these synonyms here would be a good fit as a high level term