#31 ocular albinism

closed
nobody
None
5
2010-12-14
2010-12-14
No

Can we have a text def for HP:0001107 ! Ocular albinism?

Should this be a subclass of albinism?

Is this actually a superclass of 4 OMIM disorders?
http://en.wikipedia.org/wiki/Oculocutaneous_albinism

is the xp definition accurate?

id: HP:0001107
name: Ocular albinism
namespace: medical_genetics
xref: UMLS:C0078917
is_a: HP:0000525 ! Abnormality of the iris
is_a: HP:0001098 ! Abnormality of the fundus
intersection_of: PATO:0001558 ! lacking processual parts
intersection_of: OBO_REL:inheres_in FMA:54448 ! Eye
intersection_of: towards GO:0006582 ! melanin metabolic process

it says Eye but the graphs says ocular fundus and iris.

Discussion

  • Peter N. Robinson

    Ocular albinism can be a component of the disease albinism, but not every patient with ocular albinism can be said to have albinism. Therefore I do not think that a subclass relation is appropriate. The link between ocular albinism and albinism is implicit in the annotations of diseases. I think the current ontology structure here is OK.

     
  • Peter N. Robinson

    • status: open --> closed
     

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