FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term chromosome 16p12.1 deletion syndrome ID (Ontology) DOID:0060399 (Human Disease)
Definition A chromosomal deletion syndrome that has_material_basis_in a 520 kb deletion on the short (p) arm of the chromosome at a location designated 16p12.1 and is characterized by developmental delay, craniofacial dysmorphology, and congenital heart defects.
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Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       3
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 Alleles Genes
 chromosome 16p12.1 deletion syndrome       3      3
 model of | chromosome 16p12.1 deletion syndrome       3       --
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  chromosomal disease
   |__chromosomal deletion syndrome
       |__chromosome 16p12.1 deletion syndrome  6 rec.
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Is a chromosomal deletion syndrome
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MIM:136570