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review episodic ataxia classification #8724

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nicolevasilevsky opened this issue Feb 15, 2025 · 2 comments · May be fixed by #8770
Open

review episodic ataxia classification #8724

nicolevasilevsky opened this issue Feb 15, 2025 · 2 comments · May be fixed by #8770
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From Chris:
is-a assertions at this level are a red flag. Are EA1 and EA2 so different? Is EA1 really a neuropathy?

in fact there is zero support for this is-a.

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@nicolevasilevsky nicolevasilevsky self-assigned this Feb 15, 2025
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TO DO:

nicolevasilevsky added a commit that referenced this issue Feb 23, 2025
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clean up episodic ataxia type 1 and 2
453f30c 
- revise definition to match current Orphanet def
- revise synonym scope to match OMIM
- add xrefs

close #8724
@nicolevasilevsky nicolevasilevsky linked a pull request Feb 23, 2025 that will close this issue
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nicolevasilevsky commented Feb 23, 2025 •
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These are included terms in OMIM - I moved these out as synonyms on episodic ataxia 1 and made the following changes:

  1. created new class (MONDO:0100594) for 'myokymia 1', added 'myokymia 1 with or without hypomagnesemia' as a synonym
    • added as child of 'facial nerve disorder' and 'hereditary disease'
  2. added 'continuous muscle fiber activity, hereditary' and 'continuous muscle fibre activity, hereditary' as synonyms to MONDO:0019943 'hereditary continuous muscle fiber activity' and added OMIM xref (as MONDO:includedEntryInOMIM)
    • add subclassOf axiom 'has material basis in germline mutation in' some KCNA1
  3. moved synonym Isaacs-Mertens syndrome to MONDO:0019399 'Isaac syndrome' and added OMIM xref (as MONDO:includedEntryInOMIM)

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clean up episodic ataxia type 1 and 2 monarch-initiative/mondo
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