From 2f8d22f2228173a9e3b877429c2dfb3c140c57ec Mon Sep 17 00:00:00 2001 From: Nicole Vasilevsky Date: Sun, 19 Jan 2025 18:18:00 -0800 Subject: [PATCH 1/3] add new term TMEM63B-related developmental and epileptic encephalopathy with anaemia close #8159 --- 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 3680ffd4d..8df3a3562 100644 --- a/src/ontology/mondo-edit.obo +++ b/src/ontology/mondo-edit.obo @@ -552568,6 +552568,14 @@ is_a: MONDO:0005384 {source="https://orcid.org/0000-0002-4142-7153"} ! focal epi is_a: MONDO:0020072 {source="https://www.epilepsydiagnosis.org/syndrome/epilepsy-syndrome-groupoverview.html"} ! childhood-onset epilepsy syndrome property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8490" xsd:anyURI +[Term] +id: MONDO:0800503 +name: TMEM63B-related developmental and epileptic encephalopathy with anaemia +def: "A developmental and epileptic encephalopathy caused by variation in the TMEM63B gene. This disorder is characterised by early-onset drug-resistant epilepsy, with moderate-to-profound intellectual disability, severe motor impairment and brain structural anomalies. Most patients present early generalised hypotonia, nystagmus and central visual impairment, severe dysphagia and haematological abnormalities." [PMID:37421948] +synonym: "TMEM63B-related DEE with anaemia" EXACT [https://orcid.org/0000-0002-0987-9862] +is_a: MONDO:0100062 {source="https://orcid.org/0000-0002-0987-9862"} ! developmental and epileptic encephalopathy +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8159" xsd:anyURI + [Term] id: MONDO:0810000 name: choroidal neovascularization From e1c68600d1badfa843b7a5fcfd5bc9b3cb669f83 Mon Sep 17 00:00:00 2001 From: Nicole Vasilevsky Date: Sun, 19 Jan 2025 18:20:01 -0800 Subject: [PATCH 2/3] add gene --- src/ontology/mondo-edit.obo | 3 ++- 1 file changed, 2 insertions(+), 1 deletion(-) diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo index 8df3a3562..681253c93 100644 --- a/src/ontology/mondo-edit.obo +++ b/src/ontology/mondo-edit.obo @@ -552573,7 +552573,8 @@ id: MONDO:0800503 name: TMEM63B-related developmental and epileptic encephalopathy with anaemia def: "A developmental and epileptic encephalopathy caused by variation in the TMEM63B gene. This disorder is characterised by early-onset drug-resistant epilepsy, with moderate-to-profound intellectual disability, severe motor impairment and brain structural anomalies. Most patients present early generalised hypotonia, nystagmus and central visual impairment, severe dysphagia and haematological abnormalities." [PMID:37421948] synonym: "TMEM63B-related DEE with anaemia" EXACT [https://orcid.org/0000-0002-0987-9862] -is_a: MONDO:0100062 {source="https://orcid.org/0000-0002-0987-9862"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="PMID:37421948", source="https://orcid.org/0000-0002-0987-9862"} ! developmental and epileptic encephalopathy +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17735 {source="PMID:37421948"} ! TMEM63B property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8159" xsd:anyURI [Term] From 01c5c5ef668bc4d9eb74ceb8b1d105e7d8420641 Mon Sep 17 00:00:00 2001 From: Nicole Vasilevsky Date: Wed, 22 Jan 2025 09:52:43 -0800 Subject: [PATCH 3/3] revise label to American spelling add UK synonyms --- src/ontology/mondo-edit.obo | 6 ++++-- 1 file changed, 4 insertions(+), 2 deletions(-) diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo index 681253c93..2ca93f9f0 100644 --- a/src/ontology/mondo-edit.obo +++ b/src/ontology/mondo-edit.obo @@ -552570,9 +552570,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0800503 -name: TMEM63B-related developmental and epileptic encephalopathy with anaemia +name: TMEM63B-related developmental and epileptic encephalopathy with anemia def: "A developmental and epileptic encephalopathy caused by variation in the TMEM63B gene. This disorder is characterised by early-onset drug-resistant epilepsy, with moderate-to-profound intellectual disability, severe motor impairment and brain structural anomalies. Most patients present early generalised hypotonia, nystagmus and central visual impairment, severe dysphagia and haematological abnormalities." [PMID:37421948] -synonym: "TMEM63B-related DEE with anaemia" EXACT [https://orcid.org/0000-0002-0987-9862] +synonym: "TMEM63B-related DEE with anaemia" EXACT OMO:0003005 [https://orcid.org/0000-0002-0987-9862] +synonym: "TMEM63B-related DEE with anemia" EXACT [https://orcid.org/0000-0002-0987-9862] +synonym: "TMEM63B-related developmental and epileptic encephalopathy with anaemia" EXACT OMO:0003005 [https://orcid.org/0000-0002-0987-9862] is_a: MONDO:0100062 {source="PMID:37421948", source="https://orcid.org/0000-0002-0987-9862"} ! developmental and epileptic encephalopathy relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17735 {source="PMID:37421948"} ! TMEM63B property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8159" xsd:anyURI