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DiseaseOntology / HumanDiseaseOntology

Repository for the Human Disease Ontology.
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autosomal dominant/recessive parentage #745

Closed tutajm closed 5 years ago

tutajm commented 5 years ago

We noticed that In August releases numerous terms acquired both dominant and recessive parentage, f.e.

[Term] id: DOID:0060752 name: familial temporal lobe epilepsy 5 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease

Is this the way how the terms for diseases with both dominant and recessive inheritance will be represented in DO ontology as of now? I vaguely remember that in the past it was proposed to use [autosomal genetic disease (DOID:0050739)] parentage for this kind of diseases instead ...

Thank you

lschriml commented 5 years ago

Hello, yes, in August I went through all of the 'genetic' diseases, and if their inheritance is known, in OMIM or Genetics Home Reference, then I added logical axioms. When they are both dominant and recessive, they were defined as both axioms. We have the granularity now to be able to be this specific, so I went forward and added in the axioms.

Cheers, Lynn