New genetic counsellor - new possible terms?

[obophenotype-user]

Hi Peter,

My name is Bailey Gallinger and I am a genetic counsellor working in Toronto with Michael Brudno on PhenomeCentral/PhenoTips. I took over from my colleague Heather Trang. I was looking through some entries on PhenomeCentral and have come across some terms that I wanted to run by you to see if an HPO term should be added:

1. 'Reduced cerebrospinal lactate', as a subgroup of "Abnormality of the cerebrospinal fluid"

=> Added as HP_0030086

1. 'Reduced movement of facial muscles', as a subgroup of "Abnormality of facial musculature" => Probably the same thing as HP_0004673, 'Decreased facial expression' ?
2. 'Increased testosterone', as a subgroup of "Puberty and gonadal disorders" => Add new term HP_0030088

Please let me know if this is the correct format to ask you about possible term additions. => Keep 'em coming, this is perfect. If it does not add much work, please keep the term requests one at a time, it is easier to respond or ask questions that way! -Peter

Thanks,

Bailey Gallinger

Reported by: baileypc

Original Ticket: obo/human-phenotype-requests/332

[obophenotype-user]

Dear Bailley, Great to meet you. I hagve been pretty overwhelmen recently and need to do some of the biocuration, probably this will work on Friday. Reduced movement of facial muscles might be the same thing as "Masked facies"? Could you provide an exact definition? Thanks Peter

Dr. med. Peter N. Robinson, MSc. Professor of Medical Genomics Institut für Medizinische Genetik und Humangenetik Charité - Universitätsmedizin Berlin Augustenburger Platz 1 13353 Berlin Germany +4930 450566006 Mobile: 0160 93769872 peter.robinson@charite.de http://compbio.charite.de http://www.human-phenotype-ontology.org Introduction to Bio-Ontologies: http://www.crcpress.com/product/isbn/9781439836651

Von: Bailey Gallinger [mailto:baileypc@users.sf.net] Gesendet: Montag, 15. September 2014 21:34 An: Ticket 332 Betreff: [obo:human-phenotype-requests] #332 New genetic counsellor - new possible terms?

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[human-phenotype-requests:#332]http://sourceforge.net/p/obo/human-phenotype-requests/332 New genetic counsellor - new possible terms?

Status: unread Group: musculoskeletal Created: Mon Sep 15, 2014 07:34 PM UTC by Bailey Gallinger Last Updated: Mon Sep 15, 2014 07:34 PM UTC Owner: Peter N. Robinson

Hi Peter,

My name is Bailey Gallinger and I am a genetic counsellor working in Toronto with Michael Brudno on PhenomeCentral/PhenoTips. I took over from my colleague Heather Trang. I was looking through some entries on PhenomeCentral and have come across some terms that I wanted to run by you to see if an HPO term should be added:

1. 'Reduced cerebrospinal lactate', as a subgroup of "Abnormality of the cerebrospinal fluid"

2. 'Reduced movement of facial muscles', as a subgroup of "Abnormality of facial musculature"

3. 'Increased testosterone', as a subgroup of "Puberty and gonadal disorders"

Please let me know if this is the correct format to ask you about possible term additions.

Thanks,

Bailey Gallinger

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Original comment by: pnrobinson

[obophenotype-user]

Dear Peter,

Thank you for your quick reply. It is nice to meet you as well!

I did some more "digging" and decided that hypomimic face would fit here (HP:0000338). So no need for a new term

As for another term, I came across some clinicians using 'L5 sacralization', which means sacralization of the fifth lumbar vertebra. This is a congenital anomaly, in which the transverse process of the last lumbar vertebra (L5) fuses to the sacrum on one side or both, or to ilium, or both. These anomalies are observed at about 3.5 percent of people, and it is usually bilateral. Perhaps that is another term we could add.

And, I have come across clinicians using the term 'endometriosis'. There is a term for cervical endometriosis (HP:0012889), which means abnormal growth of endometrial cells (which are normally limited to the uterus) within the cervix. However, endometriosis can refer to abnormal growth of endometrial cells in other organs (ovaries, bowel or the tissue lining your pelvis). Would it be possible to have a more borader term of 'endometriosis', with cervical endometriosis as a sub-group?

Thanks again!

Bailey

Original comment by: baileypc

[obophenotype-user]

• Description has changed:

Diff:

--- old
+++ new
@@ -4,11 +4,20 @@

 1. 'Reduced cerebrospinal lactate', as a subgroup of "Abnormality of the cerebrospinal fluid"

+=> Added as HP_0030086
+
 2. 'Reduced movement of facial muscles', as a subgroup of "Abnormality of facial musculature"
+=> Probably the same thing as HP_0004673, 'Decreased facial expression' ?

 3. 'Increased testosterone', as a subgroup of "Puberty and gonadal disorders"
+=> Add new term HP_0030088

 Please let me know if this is the correct format to ask you about possible term additions.
+=> Keep 'em coming, this is perfect. If it does not add much work, please keep the term requests one at a time, it is easier to respond or ask questions that way!
+-Peter
+
+
+

 Thanks,

• status: unread --> closed-accepted

Original comment by: pnrobinson