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EBISPOT / OLS

Ontology Lookup Service from SPOT at EBI
http://www.ebi.ac.uk/ols
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Investigate the issue of ORDO's truncated definition in OLS #175

Closed siiraa closed 7 years ago

siiraa commented 7 years ago

tracked from https://github.com/monarch-initiative/monarch-disease-ontology/issues/412.

Orphanet_199 has the source definition from http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=299&Disease_Disease_Search_diseaseGroup=Cornelia-de-Lange-syndrome&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Cornelia-de-Lange-syndrome&title=Cornelia-de-Lange-syndrome&search=Disease_Search_Simple as

"Cornelia de Lange syndrome (CdLS) is a multisystem disorder with variable expression marked by a characteristic facial dysmorphism, variable degrees of intellectual deficit, severe growth retardation beginning before birth (2nd trimester), abnormal hands and feet (oligodactyly, or sometimes an even more severe amputation, and constant brachymetacarpia of the first metacarpus), and various other malformations (heart, kidney etc.)."

On OLS, it appears truncated. Is this OLS or ORDO issue? https://www.ebi.ac.uk/ols/ontologies/ordo/terms?iri=http%3A%2F%2Fwww.orpha.net%2FORDO%2FOrphanet_199

siiraa commented 7 years ago

ORDO source file has truncated definition, thus non-issue in OLS.

See: http://www.orphadata.org/data/ORDO/ordo_orphanet.owl

). orphanet ICD-10:Q87.1 MeSH:D003635 MedDRA:10056354 OMIM:122470 OMIM:300590 OMIM:300882 OMIM:610759 OMIM:614701 UMLS:C0270972 Cornelia de Lange syndrome
cmungall commented 6 years ago

So how do we get this fixed? Is there an @Orphanet tracker?

paolaroncaglia commented 6 years ago

@cmungall Orphanet doesn’t seem to have a tracker, but after a bit of digging in their “Contact us” web page (http://www.orpha.net/consor/cgi-bin/Directory_Contact.php?lng=EN), I’d suggest posting a message here http://www.orpha.net/consor/cgi-bin/Directory_Contact.php?lng=EN&type_list=CONTACT_FORM&StaticId=29, or a tweet (https://twitter.com/orphanet). Hope this helps. I'll copy the relevant info on the MONDO tracker (https://github.com/monarch-initiative/monarch-disease-ontology/issues/412). Thanks.

paolaroncaglia commented 6 years ago

@cmungall Actually, there is an @Orphanet ORDO tracker, but it seems to be empty: https://github.com/Orphanet/ORDO/issues

cmungall commented 6 years ago

Ok I'll use that, thanks, good to keep everything interlinked in github

On Feb 5, 2018 01:15, "paolaroncaglia" notifications@github.com wrote:

@cmungall https://github.com/cmungall Actually, there is an @Orphanet https://github.com/orphanet ORDO tracker, but it seems to be empty: https://github.com/Orphanet/ORDO/issues

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