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Mondo Disease Ontology
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Congenital muscular dystrophy without intellectual disability #7566

Open galyea123 opened 2 months ago

galyea123 commented 2 months ago

Hi! In the list provided by MONDO to us (NORD) this term was obsoleted and I did not find it in MONDO. I did not find a ticket related to the reason for it to be obsoleted and I would like to know the reason as this term is still in Orphanet.https://www.orpha.net/en/disease/detail/370980?name=congenital%20muscular%20dystrophy%20without%20intellectual%20disability&mode=name

Thank you! Best, Gioconda

nicolevasilevsky commented 2 months ago

@galyea123 this term was also obsoleted as part of our mass obsoletion effort to exclude grouping classes that group together terms based on phenotypic features.

Let me know if you have further questions or if further action is needed. Thanks!

galyea123 commented 2 months ago

Hi Nicole! I see that Orphanet consider it to be a disorder in the classification: ORPHA:370980 https://www.orpha.net/en/disease/detail/370980

Classification level: Disorder

Synonym(s): CMD without intellectual disability CMD-no MR Congenital muscular dystrophy-dystroglycanopathy without intellectual disability

GARD does list it too. See also OMIM: https://omim.org/entry/613152

Of note, FKTN variants are responsible for a clinical spectrum ranging from CMD without brain involvement to isolated, dilated cardiomyopathy.

Thank you, Gioconda

sabrinatoro commented 1 month ago

might be solved by https://github.com/monarch-initiative/mondo/issues/7693

galyea123 commented 1 month ago

[like] Gioconda Alyea reacted to your message:

From: Sabrina Toro @.> Sent: Tuesday, June 4, 2024 11:00:44 PM To: monarch-initiative/mondo @.> Cc: Gioconda Alyea @.>; Mention @.> Subject: Re: [monarch-initiative/mondo] Congenital muscular dystrophy without intellectual disability (Issue #7566)

might be solved by #7693https://github.com/monarch-initiative/mondo/issues/7693

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