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August 2023 release - normalization #6521

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Aug 1, 2023
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August 2023 release - normalization #6521

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12 changes: 4 additions & 8 deletions src/ontology/mondo-edit.obo
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Original file line number Diff line number Diff line change
Expand Up @@ -146229,8 +146229,7 @@ xref: OMIM:161800 {source="MONDO:equivalentTo", source="DOID:0110927"}
xref: Orphanet:607 {source="OMIM:161800"}
xref: Orphanet:98904 {source="MONDO:equivalentTo"}
xref: SCTID:702349003 {source="MONDO:equivalentTo"}
xref: UMLS:C1834336 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:98904"}
xref: UMLS:C1834336 {source="NCIT:C129870", source="OMIM:161800", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"}
xref: UMLS:C1834336 {source="NCIT:C129870", source="OMIM:161800", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:98904"}
xref: UMLS:C1834339 {source="OMIM:161800", source="MONDO:notFoundInDiseaseSubset"}
xref: UMLS:C2750536 {source="OMIM:161800", source="MONDO:notFoundInDiseaseSubset"}
xref: UMLS:C2750537 {source="OMIM:161800", source="MONDO:notFoundInDiseaseSubset"}
Expand Down Expand Up @@ -272188,8 +272187,7 @@ id: MONDO:0013646
name: chromosome 8q21.11 deletion syndrome
def: "Heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies." [Orphanet:284160]
subset: ordo_malformation_syndrome {source="Orphanet:284160"}
synonym: "8q21.11 microdeletion syndrome" EXACT [DECIPHER:86]
synonym: "8q21.11 microdeletion syndrome" EXACT [DOID:0060425]
synonym: "8q21.11 microdeletion syndrome" EXACT [DECIPHER:86, DOID:0060425]
synonym: "chromosome 8q21.11 deletion syndrome" EXACT [OMIM:614230]
synonym: "chromosome 8q21.11 deletion syndrome, isolated cases" EXACT [OMIM:614230, OMIM:genemap2]
synonym: "Del(8)(q21.11)" EXACT [Orphanet:284160]
Expand Down Expand Up @@ -361626,8 +361624,7 @@ synonym: "LFS3" RELATED ABBREVIATION [MONDO:0012234, MONDO:Lexical, OMIM:609266]
synonym: "Li Fraumeni syndrome" EXACT [GARD:0006902]
synonym: "Li-Fraumeni familial cancer susceptibility syndrome" EXACT [NCIT:C3476]
synonym: "Li-Fraumeni familiar cancer susceptibility syndrome" EXACT [DOID:3012, NCIT:C3476]
synonym: "Li-Fraumeni syndrome" EXACT CLINGEN_PREFERRED [NCIT:C3476]
synonym: "Li-Fraumeni syndrome" EXACT [OMIM:151623]
synonym: "Li-Fraumeni syndrome" EXACT CLINGEN_PREFERRED [NCIT:C3476, OMIM:151623]
synonym: "Li-Fraumeni syndrome caused by mutation in TP53" EXACT [MONDO:design_pattern]
synonym: "Li-Fraumeni-like syndrome" RELATED [OMIM:151623]
synonym: "sarcoma family syndrome of 51 and Fraumeni" RELATED [OMIM:151623]
Expand All @@ -361648,8 +361645,7 @@ xref: NCIT:C3476 {source="DOID:3012", source="MONDO:equivalentTo", source="MONDO
xref: OMIM:151623 {source="MONDO:equivalentTo"}
xref: OMIM:609266 {source="MONDO:equivalentObsolete"}
xref: OMIMPS:151623 {source="MONDO:cjm", source="MONDO:relatedTo"}
xref: Orphanet:524 {source="OMIM:151623", source="OMIM:609266"}
xref: Orphanet:524 {source="DOID:3012", source="MONDO:equivalentTo"}
xref: Orphanet:524 {source="DOID:3012", source="OMIM:151623", source="MONDO:equivalentTo", source="OMIM:609266"}
xref: SCTID:428850001 {source="DOID:3012", source="MONDO:equivalentTo"}
xref: UMLS:C0085390 {source="DOID:3012", source="Orphanet:524", source="MONDO:equivalentTo", source="Orphanet:524/e", source="NCIT:C3476"}
xref: UMLS:C1835398 {source="OMIM:151623", source="MONDO:ncbi_mim2gene_medline"}
Expand Down
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