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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:
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
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