#1270 Dactyly definition and placement review

open
nobody
None
5
2012-11-30
2012-11-30
No

The definitions of these terms seem to overlap. Could we make them more distinct? If a mouse is missing 1 or two digits, would I annotate to both?

adactyly [MP:0000561] Definition: missing one or more digits, or all digits
oligodactyly [MP:0000565] Definition: congenital condition in which some digits or parts of digits are missing

Also consider position of:
monodactyly [MP:0003800] Definition: having only one toe or digit on each extremity

From the definitions, it would appear that monodactyly and oligodactyly could be children of adactyly

Discussion

  • Chris Mungall
    Chris Mungall
    2012-11-30

    sorry to interject here, but I'm interested in harmonizing this with the HP

    > adactyly [MP:0000561] Definition: missing one or more digits, or all digits

    compare:
    HP:0009776 ! Adactyly [DEF: "The absence of **all** phalanges of **all** the digits of a limb and the associated soft tissues."]

    i.e. adactly - has at least one limb with zero digits

    > oligodactyly [MP:0000565] Definition: congenital condition in which some digits or parts of digits are missing
    is the "congenital" needed here?

    HP lacks a class at the level of autopod, but has:

    ..is_a HP:0001180 ! Oligodactyly (hands) *** [DEF: "A developmental defect resulting in the presence of fewer than the normal number of fingers."]
    ...is_a HP:0004058 ! Monodactyly (hands)
    ...is_a HP:0006210 ! Postaxial oligodactyly
    ...is_a HP:0006230 ! Unilateral oligodactyly

    and

    ....is_a HP:0001849 ! Oligodactyly (feet) *** [DEF: "A developmental defect resulting in the presence of fewer than the normal number of toes."]
    .....is_a HP:0200054 ! Monodactyly (feet)

    but this seems consistent with MP

    > From the definitions, it would appear that monodactyly and oligodactyly could be children of adactyly

    according to the MP defs yes. This would solve your annotation problem - you annotate to the more specific term, and the parent annotation is inferred.

    However, if we follow the HP defs, the situation is reversed! Adactly here means missing all digits, so adactly wpuld be moved to be a subclass of oligodactyly (unless a clause is added to the def for oligo saying "some, but not *all*").

    Corresponding HP tracker item:
    https://sourceforge.net/tracker/?func=detail&aid=3591402&group_id=76834&atid=1112722

     
  • Cynthia Smith
    Cynthia Smith
    2012-11-30

    It's been a while since I looked at this but I recalled some abiguity. I found a note in the comments of the adactyly term:

    There is ambiguity in the literature regarding the meaning of the term adactyly. Some sources define this as missing all digits and other sources list the definition as missing all or one or more digits. In this ontology, we are using the latter, more inclusive definition, even though this may confound the usage of the term oligodactyly MP:0000565.

     
  • Cynthia Smith
    Cynthia Smith
    2012-11-30

    There is a prior ticket - ID: 2978495 " adactyly, MP:0000561 definition concern"

    I think this is where the original confounding information came from.