August 2023 release - normalization (#6521)

monarch-initiative · Aug 1, 2023 · 0bee9e3 · 0bee9e3
1 parent 25cc1bc
commit 0bee9e3
Showing 1 changed file with 4 additions and 8 deletions.
diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo
@@ -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"}
@@ -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]
@@ -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]
@@ -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"}