update orphanet x-ref #9834
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update orphanet x-ref #9834
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Addresses #7693 This PR is in preparation for the work done to reinstate or keep obsolete terms equivalent to orphanet "disorder" or "subtype of disorder"
katiermullen
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Dec 19, 2025
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@sabrinatoro I approve this PR. I just have one question for you to answer before you merge it. Thank you!
| @@ -277489,7 +277505,6 @@ xref: UMLS:C0086795 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= | |||
| is_a: MONDO:0001586 {source="DOID:0111390", source="NCIT:C61261", source="Orphanet:93473"} ! mucopolysaccharidosis type 1 | |||
| is_a: MONDO:0002254 {source="NCIT:C61261"} ! syndromic disease | |||
| is_a: MONDO:0002561 {source="NCIT:C61261/inferred", source="Orphanet:93473/inferred", source="PMID:21723623"} ! lysosomal storage disease | |||
| is_a: MONDO:0016340 ! familial restrictive cardiomyopathy | |||
| is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement | |||
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@sabrinatoro does this need to have an excluded subclass annotation?
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no, because we don't know where this annotation came from.
I removed it because it didn't have a source/evidence. It is possible it might come back with some evidence.
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Addresses #7693
This PR is in preparation for the work done to reinstate or keep obsolete terms equivalent to orphanet "disorder" or "subtype of disorder"
Information from this spreadsheet - "Sabrina" as curator