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monarch-initiative / mondo

Mondo Disease Ontology
http://obofoundry.org/ontology/mondo
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[NTR] hereditary bleeding disease #5673

Open nicolevasilevsky opened 1 year ago

nicolevasilevsky commented 1 year ago

Preferred term label: hereditary bleeding disease

related to https://github.com/monarch-initiative/mondo/issues/5660

@pnrobinson could you describe what you envision here? What would be children of this disease?

nicolevasilevsky commented 1 year ago

talking to Ada, this brings up the question about 'Mallory-Weiss syndrome' - these are tears, more of a symptom, not necessarily a syndrome. We should consider obsoleting this, adding it to HPO should be called Mallory-Weiss tear

nicolevasilevsky commented 1 year ago

Ada suggests considering new term: hereditary clotting factor disease (or deficiency) and current children of 'coagulation protein disease' could be children of this new term

need to distinguish between clotting factor and platelet dysfunction diseases