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monarch-initiative / mondo

Mondo Disease Ontology
http://obofoundry.org/ontology/mondo
Creative Commons Attribution 4.0 International
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CTR9-related neurodevelopmental disorder #8157

Closed ens-ecibrian closed 2 days ago

ens-ecibrian commented 2 months ago

Preferred gene-related syndrome label CTR9-related neurodevelopmental disorder

Synonyms

Parent term (use OLS, or your favorite ontology browser) MONDO_0100500

Definition A neurodevelopmental disorder caused by variation in the CTR9 gene. This disorder is characterised by varying degrees of intellectual disability, neurodevelopmental delay, hypotonia, fatigability, behavioral abnormalities including autism spectrum disorder, anxiety and aggressive behavior, cardiac anomalies, and mild facial dysmorphism.

Definition source (Please give PubMed ID, if applicable, in format PMID:#######) PMID:35717577, PMID:35468861, PMID:35499524

Children terms (if applicable) Should any existing terms be re-classified as children underneath this new proposed term?

Your nano-attribution (ORCID) or URL for a working group 0000-0002-0987-9862

Additional comments Request from the G2P team (EMBL-EBI)

yshwetar commented 2 days ago

We have added the new term CTR9-related neurodevelopmental disorder in #8361. Thank you!