From be96887a848c6df9b9565b97f1c0fb2eb0c5aa35 Mon Sep 17 00:00:00 2001 From: Yousif Date: Tue, 12 Nov 2024 15:30:44 -0500 Subject: [PATCH 1/2] Obsolete bone dysplasia, Azouz type Close #7842 bone dysplasia, Azouz type is not used in any other reference, and not referred to in medical literature. --- src/ontology/mondo-edit.obo | 21 ++++++++------------- 1 file changed, 8 insertions(+), 13 deletions(-) diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo index 6d8c0b5941..cedcf0136c 100644 --- a/src/ontology/mondo-edit.obo +++ b/src/ontology/mondo-edit.obo @@ -366536,26 +366536,21 @@ replaced_by: MONDO:0005046 [Term] id: MONDO:0015985 -name: bone dysplasia, Azouz type -def: "Bone dysplasia Azouz type is a form of generalized enchondromatosis with involvement of the spine (so called spondyloenchondromatosis). Spondyloenchondromatosis is a very rare skeletal dysplasia characterized by severe platyspondyly, and mild involvement of hands and feet." [Orphanet:1844] +name: obsolete bone dysplasia, Azouz type +def: "OBSOLETE. Bone dysplasia Azouz type is a form of generalized enchondromatosis with involvement of the spine (so called spondyloenchondromatosis). Spondyloenchondromatosis is a very rare skeletal dysplasia characterized by severe platyspondyly, and mild involvement of hands and feet." [Orphanet:1844] comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: skeletal dysplasia-MONDO:0018230 -subset: gard_rare {source="GARD:920", source="MONDO:GARD"} -subset: obsoletion_candidate -subset: ordo_malformation_syndrome {source="Orphanet:1844"} -subset: rare synonym: "bone dysplasia Azouz type" RELATED [GARD:0000920] xref: GARD:920 {source="MONDO:GARD"} xref: ICD10CM:Q78.4 {source="Orphanet:1844/inclusion", source="Orphanet:1844", source="Orphanet:1844/ntbt"} -xref: icd11.foundation:2054115498 {source="MONDO:equivalentTo"} -xref: MEDGEN:929662 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: icd11.foundation:2054115498 {source="MONDO:equivalentObsolete"} +xref: MEDGEN:929662 {source="MONDO:equivalentObsolete", source="MONDO:MEDGEN"} xref: Orphanet:1844 {source="MONDO:equivalentObsolete"} -xref: SCTID:720566004 {source="MONDO:equivalentTo"} -xref: UMLS:C4303993 {source="MEDGEN:929662", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0018230 {source="Orphanet:1844"} ! skeletal dysplasia -relationship: excluded_subClassOf MONDO:0019708 {source="Orphanet:1844", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with disorganized development of skeletal components +xref: SCTID:720566004 {source="MONDO:equivalentObsolete"} +xref: UMLS:C4303993 {source="MONDO:equivalentObsolete", source="MEDGEN:929662", source="MONDO:MEDGEN"} +property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeHistoricalDisease"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7842" xsd:anyURI -property_value: IAO:0006012 "2024-09-01" xsd:string property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/920/bone-dysplasia-azouz-type" xsd:anyURI {source="GARD:0000920"} +is_obsolete: true [Term] id: MONDO:0015986 From e77a605b6fc80d599f2197516e845cc579c99c75 Mon Sep 17 00:00:00 2001 From: Yousif Date: Tue, 12 Nov 2024 16:35:35 -0500 Subject: [PATCH 2/2] Fixed MONDO:obsoleteEquivalent --- src/ontology/mondo-edit.obo | 10 +++++----- 1 file changed, 5 insertions(+), 5 deletions(-) diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo index cedcf0136c..49d2976528 100644 --- a/src/ontology/mondo-edit.obo +++ b/src/ontology/mondo-edit.obo @@ -366542,11 +366542,11 @@ comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Te synonym: "bone dysplasia Azouz type" RELATED [GARD:0000920] xref: GARD:920 {source="MONDO:GARD"} xref: ICD10CM:Q78.4 {source="Orphanet:1844/inclusion", source="Orphanet:1844", source="Orphanet:1844/ntbt"} -xref: icd11.foundation:2054115498 {source="MONDO:equivalentObsolete"} -xref: MEDGEN:929662 {source="MONDO:equivalentObsolete", source="MONDO:MEDGEN"} -xref: Orphanet:1844 {source="MONDO:equivalentObsolete"} -xref: SCTID:720566004 {source="MONDO:equivalentObsolete"} -xref: UMLS:C4303993 {source="MONDO:equivalentObsolete", source="MEDGEN:929662", source="MONDO:MEDGEN"} +xref: icd11.foundation:2054115498 {source="MONDO:obsoleteEquivalent"} +xref: MEDGEN:929662 {source="MONDO:obsoleteEquivalent", source="MONDO:MEDGEN"} +xref: Orphanet:1844 {source="MONDO:obsoleteEquivalent"} +xref: SCTID:720566004 {source="MONDO:obsoleteEquivalent"} +xref: UMLS:C4303993 {source="MONDO:obsoleteEquivalent", source="MEDGEN:929662", source="MONDO:MEDGEN"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeHistoricalDisease"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7842" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/920/bone-dysplasia-azouz-type" xsd:anyURI {source="GARD:0000920"}