Search Ontology:
Human Disease
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
- Term ID
- DOID:0112247
- Synonyms
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- CDK13-Related CHDFIDD
- CDK13-Related Disorder
- CHDFIDD
- Definition
- A syndrome characterized by congenital heart defects, dysmorphic facial features, and impaired intellectual developmental that has_material_basis_in heterozygous mutation in the CDK13 gene on chromosome 7p14.1. (3)
- References
- Ontology
- Human Disease ( DOID:0112247 )
- is a type of
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