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New term X-linked syndromic complex neurodevelopmental disorder #8371

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New term X-linked syndromic complex neurodevelopmental disorder #8371

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New term X-linked syndromic complex neurodevelopmental disorder
yshwetar Nov 13, 2024
a54f260
Single Child
yshwetar Nov 13, 2024
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9 changes: 9 additions & 0 deletions src/ontology/mondo-edit.obo
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Expand Up @@ -586121,6 +586121,15 @@ property_value: http://purl.org/dc/elements/1.1/date "2024-07-23T13:27:04Z" xsd:
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0587-4693
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7837" xsd:anyURI

[Term]
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

relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0587-4693
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8266" xsd:string

[Term]
id: MONDO:1040019
name: Enterococcus infectious disease
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