From 76f1894acc80b7de3477adaf29f8e87e8d62d0e1 Mon Sep 17 00:00:00 2001 From: katiermullen <102704401+katiermullen@users.noreply.github.com> Date: Thu, 14 Nov 2024 14:49:27 -0700 Subject: [PATCH] x-ref for Baraitser-Winter cerebrofrontofacial syndrome Closes #8085 -Replied to user on ticket -Added additional db-xref for syn Baraitser-Winter syndrome --- src/ontology/mondo-edit.obo | 5 +++-- 1 file changed, 3 insertions(+), 2 deletions(-) diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo index d254c5d9a..741b20c3a 100644 --- a/src/ontology/mondo-edit.obo +++ b/src/ontology/mondo-edit.obo @@ -309905,7 +309905,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:280576"} subset: orphanet_rare {source="Orphanet:280576"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "BANF1-related neurodevelopmental syndrome" EXACT CLINGEN_LABEL [https://search.clinicalgenome.org/CCID:008387] +synonym: "BANF1-related neurodevelopmental syndrome" EXACT CLINGEN_LABEL [https://search.clinicalgenome.org/CCID\:008387] synonym: "Nestor-Guillermo progeria syndrome" EXACT [MONDO:Lexical, OMIM:614008] synonym: "NGPS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614008, Orphanet:280576] synonym: "progeria syndrome, childhood-onset, with osteolysis" RELATED [OMIM:614008] @@ -399181,7 +399181,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:2995"} subset: orphanet_rare {source="Orphanet:2995"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Baraitser-winter syndrome" EXACT [MONDO:0000719] +synonym: "Baraitser-Winter syndrome" EXACT [MONDO:0000719, Orphanet:2995] synonym: "BRWS" RELATED ABBREVIATION [GARD:0005279] synonym: "cerebro-frontofacial syndrome, type 3" RELATED [GARD:0005279] synonym: "Fryns-Aftimos syndrome" RELATED [GARD:0005279] @@ -399205,6 +399205,7 @@ is_a: MONDO:0018838 {source="MONDO:0015147-obsoleted"} ! lissencephaly spectrum relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0017579 {source="MONDO:CLINGEN"} relationship: has_characteristic MONDO:0021152 {source="OMIMPS:243310"} ! inherited property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8085" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5279/baraitser-winter-syndrome" xsd:anyURI {source="GARD:0005279"} [Term]