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Add the synonyms and mark it as a rare condition #8496

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galyea123 opened this issue Dec 17, 2024 · 0 comments
Open

Add the synonyms and mark it as a rare condition #8496

galyea123 opened this issue Dec 17, 2024 · 0 comments
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@galyea123
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Hi! MONDO list neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language MONDO:0971172 (as per OMIM) and also list an ORDO condition "RNU4-2-related neurodevelopmental disorder-facial dysmorphism-white matter abnormalities-short stature syndrome" ORDO:686488 (as per Orphanet). The ORDO term is linked to the MONDO term that comes from OMIM but MONDO does not include the ORDO term names. I am requesting to mark this condition as rare and add the synonyms as follow:

ReNU syndrome; RENU
RNU4-2-related neurodevelopmental disorder-facial dysmorphism-white matter abnormalities-short stature syndrome
RNU4-2-related neurodevelopmental syndrome

Source: PubMed ID 38821540 38645094

Thank you, Gioconda Alyea

@sabrinatoro sabrinatoro added the user request A request from an external user label Jan 3, 2025
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