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Mondo Disease Ontology

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

sabrinatoro opened this issue · comments

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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?