synonym scope for ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder

monarch-initiative / mondo

Mondo Disease Ontology

http://obofoundry.org/ontology/mondo

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synonym scope for ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder #7812

Open sabrinatoro opened 1 week ago

sabrinatoro commented 1 week ago

Question from Paula Duek Roggli on slack

Why http://purl.obolibrary.org/obo/MONDO_0014379 has related synonym: intellectual disability, autosomal dominant 28 ADNP syndrome mental retardation, autosomal dominant 28 Could we consider them exact synonyms? Why "Helsmoortel-VAN DER AA syndrome" is related? Is it because the definition of this disease is "non syndromic"? Even if exact maps to http://purl.obolibrary.org/obo/DOID_0070058?