New term X-linked syndromic complex neurodevelopmental disorder#8371
New term X-linked syndromic complex neurodevelopmental disorder#8371sabrinatoro merged 5 commits intomasterfrom
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| id: MONDO:1040018 | ||
| name: X-linked syndromic complex neurodevelopmental disorder | ||
| def: "A disorder that is transmitted via X-linked inheritance and involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy), and also a distinctive pattern of other features including dysmorphisms and/or congenital malformations." [https://clinicalgenome.org/affiliation/40006/, https://orcid.org/0000-0002-0587-4693, https://orcid.org/0000-0002-6647-5493, PMID:33244165] | ||
| is_a: MONDO:0800439 ! syndromic complex neurodevelopmental disorder |
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source is missing for this SubClassOf
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There are a few changes to make in this PR (e.g. adding a source for the SubClassOf). However, before making these changes, @yshwetar could you please confirm that this new requested term is different from MONDO:0100148 ('X-linked complex neurodevelopmental disorder')?
I "think" it is as in this new requested term is the syndromic version of 'X-linked complex neurodevelopmental disorder'. But let's confirm first. Also, if I am correct, we would need to make some additional updates to this term.
@yshwetar, let me know if you need help with writing to the requester.
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Update: the requester has been contacted for more information about their request |
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Hi @yshwetar and @sabrinatoro - Could you please provide a status update? We have a curation ready to be published and waiting on this term. Let me know if you have any other questions on this one! Julia |
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I had made a comment back on the previous ticket responding to your question. Here it is again if that is helpful! Yes, the term I am requesting (‘X-linked syndromic complex neurodevelopmental disorder’) is different from the existing term ‘complex neurodevelopmental disorder’ (MONDO:0100148). ‘X-linked syndromic complex neurodevelopmental disorder’ is different from ‘syndromic complex neurodevelopmental disorder’ in the same way ‘syndromic intellectual disability’ is different from ‘intellectual disability’. Note also that the term ‘syndromic complex neurodevelopmental disorder’ (MONDO:0800439 - A disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy), and also a distinctive pattern of other features including dysmorphisms and/or congenital malformations) already exists in Mondo. We are just asking to have the same term for X-linked. Thanks! |
- Added ORCIDs and ClinGen link
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Closes #8266