New term X-linked syndromic complex neurodevelopmental disorder #8371
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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 |
Closes #8266