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Obsolete bone dysplasia, Azouz type #8350

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Nov 12, 2024
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Obsolete bone dysplasia, Azouz type #8350

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Obsolete bone dysplasia, Azouz type
yshwetar Nov 12, 2024
e77a605
Fixed MONDO:obsoleteEquivalent
yshwetar Nov 12, 2024
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23 changes: 9 additions & 14 deletions src/ontology/mondo-edit.obo
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Expand Up @@ -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: 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: 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: 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
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