From 3ab21b570f9dd34882fbea492cdf456298f99b3b Mon Sep 17 00:00:00 2001 From: Yousif Date: Wed, 13 Nov 2024 07:57:07 -0500 Subject: [PATCH 1/3] New term X-linked syndromic complex neurodevelopmental disorder Closes #8266 --- src/ontology/mondo-edit.obo | 8 ++++++++ 1 file changed, 8 insertions(+) diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo index cfa00f4a96..bfb1648577 100644 --- a/src/ontology/mondo-edit.obo +++ b/src/ontology/mondo-edit.obo @@ -586121,6 +586121,14 @@ 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 +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 From a54f260869529cdd784e966c05a63ab411ac7297 Mon Sep 17 00:00:00 2001 From: Yousif Date: Wed, 13 Nov 2024 07:58:46 -0500 Subject: [PATCH 2/3] Single Child --- src/ontology/mondo-edit.obo | 1 + 1 file changed, 1 insertion(+) diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo index bfb1648577..bde3487fe8 100644 --- a/src/ontology/mondo-edit.obo +++ b/src/ontology/mondo-edit.obo @@ -586126,6 +586126,7 @@ 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 +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 From 3ba3480526d97a92d5c651289de823888b250e0e Mon Sep 17 00:00:00 2001 From: Yousif Date: Thu, 16 Jan 2025 06:31:22 -0500 Subject: [PATCH 3/3] Added source to subclass - Added ORCIDs and ClinGen link --- src/ontology/mondo-edit.obo | 4 ++-- 1 file changed, 2 insertions(+), 2 deletions(-) diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo index bde3487fe8..9d996d2bf9 100644 --- a/src/ontology/mondo-edit.obo +++ b/src/ontology/mondo-edit.obo @@ -267784,7 +267784,7 @@ synonym: "Hurthle cell carcinoma of thyroid gland" EXACT [NCIT:C4946] synonym: "Hurthle cell thyroid cancer" RELATED [GARD:0009428] synonym: "Hurthle cell thyroid gland carcinoma" EXACT [NCIT:C4946] synonym: "Hurthle cell thyroid neoplasia" RELATED [OMIM:607464] -synonym: "oncocytic carcinoma of the thyroid" EXACT [NCIT:C4946, DOID:8161] +synonym: "oncocytic carcinoma of the thyroid" EXACT [DOID:8161, NCIT:C4946] synonym: "oncocytic carcinoma of thyroid" EXACT [NCIT:C4946] synonym: "thyroid cancer, follicular, Hurthle cell type" RELATED [GARD:0009428] synonym: "thyroid cancer, Hurthle cell" RELATED [GARD:0009428] @@ -586125,7 +586125,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ 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 +is_a: MONDO:0800439 {source="ORCID:0000-0002-0587-4693", source="ORCID:0000-0002-6647-5493", source="https://clinicalgenome.org/affiliation/40006/"} ! syndromic complex neurodevelopmental disorder 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