monarch-initiative / HPO-UMLS-Integration

Repository for HPO UMLS integration QA code and tracking issues
0 stars 0 forks source link

Concept name problem, HP:0025480 #40

Closed mirandajarnot closed 7 years ago

mirandajarnot commented 7 years ago

In the June 28, 2017 version of HPO, there is a term name missing for HP:0025480, and it has been replaced with the term's definition.
The term name has become "A type of spinal dysraphism presenting as a subcutaneous fatty mass, that is, a spinal defect associated with lipomatous tissue, and covered by skin. The most usual location for lipomyelomeningocele is at the gluteal cleft." Can you please let us know what the correct name of this term is supposed to be? This error is also present in the context hierarchy. The parent term is Myelomeningocele.

pnrobinson commented 7 years ago

Thanks for picking this up. The term name (label) should be

Lipomyelomeningocele

I have just corrected this on our github repo.

-Peter

Peter Robinson

Professor of Computational Biology

The Jackson Laboratory for Genomic Medicine

10 Discovery Drive

Farmington, CT 06032

860.837.2095 t | 860.990.3130 m

peter.robinson@jax.orgmailto:peter.robinson@jax.org

www.jax.org

Robinson lab: https://robinsongroup.github.io/

The Jackson Laboratory: Leading the search for tomorrow's cures


From: mirandajarnot notifications@github.com Sent: Thursday, July 13, 2017 6:36 AM To: monarch-initiative/HPO-UMLS-Integration Cc: Subscribed Subject: [monarch-initiative/HPO-UMLS-Integration] Concept name problem, HP:0025480 (#40)

In the June 28, 2017 version of HPO, there is a term name missing for HP:0025480, and it has been replaced with the term's definition. The term name has become "A type of spinal dysraphism presenting as a subcutaneous fatty mass, that is, a spinal defect associated with lipomatous tissue, and covered by skin. The most usual location for lipomyelomeningocele is at the gluteal cleft." Can you please let us know what the correct name of this term is supposed to be? This error is also present in the context hierarchy. The parent term is Myelomeningocele.

- You are receiving this because you are subscribed to this thread. Reply to this email directly, view it on GitHubhttps://github.com/monarch-initiative/HPO-UMLS-Integration/issues/40, or mute the threadhttps://github.com/notifications/unsubscribe-auth/AEtuPC4xJax54H8bLt43_85im1yKpMDjks5sNfMogaJpZM4OWz0K.

The information in this email, including attachments, may be confidential and is intended solely for the addressee(s). If you believe you received this email by mistake, please notify the sender by return email as soon as possible.