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monarch-initiative / mondo

Mondo Disease Ontology
http://obofoundry.org/ontology/mondo
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MONDO:0015194 and link to OMIM #1450

Closed maglott closed 4 years ago

maglott commented 4 years ago

sideroblastic anemia MONDO:0015194 is defined as 'inherited or acquired', yet has an XRef to https://www.omim.org/phenotypicSeries/PS300751 which is clearly the genetic subset

  1. What is the term in MONDO for the equivalent of '[C0221018] Hereditary sideroblastic anemia '?
  2. When MONDO does distinguish between concepts with multiple etiologies and the subsets that are inherited, is an effort made to limit xrefs from OMIM to the inherited ones?
  3. The new browser has 2 links to OMIM phenotypic series, the one constructed as http://www.omim.org/phenotypicSeries/300751 does not work/; the one as https://www.omim.org/phenotypicSeries/PS300751 does.
nicolevasilevsky commented 4 years ago
  1. MONDO_0020721 'X-linked sideroblastic anemia 1' is equiv to [C0221018] Hereditary sideroblastic anemia
  2. I am not sure. @cmungall could you answer this?
  3. Which new browser do you mean, @maglott?
nicolevasilevsky commented 4 years ago

@cmungall should we change the xref on MONDO_0015194 'sideroblastic anemia' to OMIMPS:300751 to 'MONDO:relatedTo'? Or just remove MONDO:equivalentTo?

maglott commented 4 years ago

The new Monarch display: https://monarchinitiative.org/disease/MONDO:0015194

nicolevasilevsky commented 4 years ago

I see, thanks @maglott. I'll report this bug on the Monarch tracker.