#320 not all motile cilia are respiratory

musculoskeletal
closed-accepted
None
5
2015-01-22
2014-06-24
No

motile cilia are found in other places than respiratory tracts - e.g. in the reproductive system.

Based on labels, HP currently assumes all motile cilia are respiratory:

   is_a HP:0002086 ! Abnormality of the respiratory system
    is_a HP:0012252 ! Abnormal respiratory system morphology
     is_a HP:0012253 ! Abnormal respiratory epithelium morphology
      is_a HP:0005938 ! Abnormal respiratory motile cilium morphology *** 
       is_a HP:0012255 ! Dynein arm defect of motile cilia
       is_a HP:0012258 ! Abnormal axonemal organization of motile cilia
       is_a HP:0012260 ! Abnormal central microtubular pair morphology of motile cilia
       is_a HP:0012264 ! Absent central microtubular pair morphology of motile cilia
       is_a HP:0012267 ! Absent ciliary axoneme radial spokes

However, we also have a label/definition mismatch:

[Term]
id: HP:0005938
name: Abnormal respiratory motile cilium morphology
namespace: human_phenotype
def: "Abnormal arrangement of the structures of the axoneme, which is the cytoskeletal structure that forms the inner core of the motile cilium and displays a canonical 9 + 2 microtubular pattern of motile cilia studded with dynein arms." [HPO:probinson, MP:0011050]
is_a: HP:0012253  ! Abnormal respiratory epithelium morphology

There is nothing in the definition that says this is respiratory.

Suggested action:

Obsolete HP:0005938

Create 2 new terms 'abnormal motile cilium morphology' and 'abnormal respiratory motile cilium morphology' with obvious definitions and placement

Discussion

  • Chris Mungall

    Chris Mungall - 2014-06-25

    Maybe a subject for another ticket: it appears there is nothing in HPO for phenotypes of the primary cilia. It would be useful to have these for annotating various ciliopathies.

     
  • Peter N. Robinson

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

    Added "respiratory" to the terms names, this was the intended semantics.

     

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