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x-ref for Baraitser-Winter cerebrofrontofacial syndrome
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Closes #8085

-Replied to user on ticket
-Added additional db-xref for syn Baraitser-Winter syndrome
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katiermullen committed Nov 14, 2024
1 parent 4d21648 commit 76f1894
Showing 1 changed file with 3 additions and 2 deletions.
5 changes: 3 additions & 2 deletions src/ontology/mondo-edit.obo
Original file line number Diff line number Diff line change
Expand Up @@ -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]
Expand Down Expand Up @@ -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]
Expand All @@ -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"}

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