Electrocardiogram heart rates in the low 100s

[NuriaQueralt]

If this is a request for a new term, please provide us with the folloing information (c.f., https://github.com/obophenotype/human-phenotype-ontology/wiki/How-to-make-a-good-term-request).

1. Preferred term label (e.g., Asplenia)_ Electrocardiogram heart rates in the low 100s

2. Synonyms (e.g., Absent spleen)

3. Textual definition (the definition should be understandable even for non-specialists. Include a PubMed ID to refer to any relevant article that provides additional information about the suggested term).

4. Reference (PMID) This reference relates this requested phenotype with the NGLY1-deficiency rare disease https://www.ncbi.nlm.nih.gov/pubmed/27388694

5. Suggested parent term

6. If you know of a disease that is characterized by this feature, please indicate it (e.g., by its Orphanet or OMIM id), and we will add the annotation to our database. DO: DOID:0060728 ORPHANET: ORPHA:404454 OMIM:615273

7. If you would like a nanoattribution, please indicate your ORCID id or provide a label such as HPO:probinson (organization, first initial-last name) http://orcid.org/0000-0003-0169-8159

[pnrobinson]

This is essentially a mild tachycardia. The HPO does not record the method used to measure the phenotype (as a general rule). One could have measure this phenotype also by simply taking the pulse. Therefore, it is best to annotaote to tachycardia (or a more detailed term). If you want to express the tachycarida was only in the low 100s, you could annotate with the clinical modifier "Mild". The HPO currently does not attemot to capture the actual numbers, it is qualitative.

[NuriaQueralt]

Got it. Thanks for the explanations. I have read the guidelines, but some terms are not very clear to me as a non MD, and i just prefer to ask to the HPO team. I am just starting curating phenotypes for the extremely rare genetic disease 'NGLY1 deficiency', so i would not want to miss an important phenotype..

[mellybelly]

it would be great if you could also add disease-phenotype association requests, we should try to be consistent in what the HPO dataset provides

On May 9, 2017, at 10:03 AM, Núria Queralt Rosinach notifications@github.com<mailto:notifications@github.com> wrote:

Got it. Thanks for the explanations. I have read the guidelines, but some terms are not very clear to me as a non MD, and i just prefer to ask to the HPO team. I am just starting curating phenotypes for the extremely genetic rare disease 'NGLY1 deficiency', so i would not want to miss an important phenotype..

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Melissa Haendel, PhD Associate Professor Library & Dept. of Medical Informatics and Clinical Epidemiology haendel@ohsu.edumailto:haendel@ohsu.edu 503-407-5970 www.monarchinitiative.orghttp://www.monarchinitiative.org

Appointments: Shanez De Silva desilva@ohsu.edumailto:desilva@ohsu.edu

[pnrobinson]

Nuria -- !muchas gracias por todas las aportaciones, es muy importante para nuestro proyecto! I have added the new terms to this list https://github.com/monarch-initiative/hpo-annotation-data/issues/131 Once we are finished we will add all of these annotations to the NGLY1 deficiency disease model so that software such as Phenomizer and Exomiser will "know" about it!

[NuriaQueralt]

@pnrobinson De nada! my pleasure! :) :) @pnrobinson @mellybelly i am annotating each new term request with the disorder. Should i make disease-phenotype association requests besides this? Thanks!

[pnrobinson]

If you had a list off all of the items for DO: DOID:0060728 ORPHANET: ORPHA:404454 OMIM:615273 then we would add them to monarch-initiative/hpo-annotation-data#131 and would update the record for that disease once we are finished with the terms.

[drseb]

Don't link to the annotation-repository. It is private and nobody outside Monarch can see the tickets.

[NuriaQueralt]

@pnrobinson @mellybelly let me know the convenient file format to add the curated disease-phenotype associations for the NGLY1 deficiency to the HPO/Monarch projects. Thanks!