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#273 Young adult onset inconsistent with parent class

musculoskeletal
closed-accepted
None
5
2014-03-12
2014-03-03
No

Adult onset is defined as: Onset of disease manifestations in adulthood, defined here as at the age of 20 years or later.
subClass Young adult onset defined as: Onset of disease at the age of between 15 and 40 years.

The subClass must be within the temporal range of the superclass.

Also, the onset terms in HPO are also inconsistent with the human developmental stage ontology https://code.google.com/p/developmental-stage-ontologies/wiki/HsapDv
We should reconcile usage here.

Related

Human Phenotype Requests: #273

Discussion

  • Peter N. Robinson

    Hi Melissa,
    at first glance, there seem to be lots of overlapping classes in HsapDv. I would also doubt that HsapDv represents community opinion, since there are as many opinions as there are MDs, I think. Currently, the HPO terms reflect the Oxford Clinical Genetics handbook, which is as close to a standard as the field has. But we need to tend to the young adult term, obviously.

    [Term]
    id: HsapDv:0000084
    name: 2-5 year-old child stage
    namespace: human_developmental_stage
    def: "Child stage that refers to a child who is over 24 months and under 6 years old." [Bgee:curator]
    synonym: "preschool child" RELATED []
    is_a: HsapDv:0000000 ! human life cycle stage
    relationship: part_of HsapDv:0000081 ! child stage
    property_value: end_ypb "6.0" xsd:float
    property_value: start_ypb "2.0" xsd:float

    [Term]
    id: HsapDv:0000085
    name: 6-12 year-old child stage
    namespace: human_developmental_stage
    def: "Child stage that refers to a child who is over 6 and under 13 years old." [Bgee:curator]
    synonym: "prepubescent" RELATED []
    is_a: HsapDv:0000000 ! human life cycle stage
    relationship: part_of HsapDv:0000081 ! child stage
    property_value: end_ypb "13.0" xsd:float
    property_value: start_ypb "6.0" xsd:float

    Dr. med. Peter N. Robinson, MSc.
    Professor of Medical Genomics
    Professor in the Bioinformatics Division of the Department of Mathematics and Computer Science of the Freie Universität Berlin
    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
    I have learned from my mistakes, and I am sure I can repeat them exactly
    ORCID ID:http://orcid.org/0000-0002-0736-9199
    Scopus Author ID 7403719646
    Appointment request: http://doodle.com/pnrobinson


    Von: Melissa Haendel [mellybelly@users.sf.net]
    Gesendet: Montag, 3. März 2014 22:50
    An: Ticket 273
    Betreff: [obo:human-phenotype-requests] #273 Young adult onset inconsistent with parent class


    [human-phenotype-requests:#273]http://sourceforge.net/p/obo/human-phenotype-requests/273/ Young adult onset inconsistent with parent class

    Status: unread
    Group: musculoskeletal
    Created: Mon Mar 03, 2014 09:50 PM UTC by Melissa Haendel
    Last Updated: Mon Mar 03, 2014 09:50 PM UTC
    Owner: nobody

    Adult onset is defined as: Onset of disease manifestations in adulthood, defined here as at the age of 20 years or later.
    subClass Young adult onset defined as: Onset of disease at the age of between 15 and 40 years.

    The subClass must be within the temporal range of the superclass.

    Also, the onset terms in HPO are also inconsistent with the human developmental stage ontology https://code.google.com/p/developmental-stage-ontologies/wiki/HsapDv
    We should reconcile usage here.


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    Related

    Human Phenotype Requests: #273

  • Melissa Haendel

    Melissa Haendel - 2014-03-03

    I think we can adjust the HsapDv to be consistent with the Oxford standard terminology for the postnatal terms. The prenatal terms are finely typed by Jonathan Bard/EHDAA2 and represent standard Carnegie stages - these are likely the same or at least very similar in Oxford?

    But yes, no matter what we choose, we'll likely make someone less than happy ;-).

     
  • Peter N. Robinson

    • status: unread --> closed-accepted
    • assigned_to: Peter N. Robinson
     
  • Peter N. Robinson

    Young adult should have been defined as from 16 years on to 40.
    I have adjust the definition of adult to begin with 16 years.
    Obviously there is no good definition of this, but I think this age classification is the most reasonable compromise between biology and culture etc.

     

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