FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Pan-Chung-Bellen syndrome ID (Ontology) DOID:0061146 (Human Disease)
Definition A syndromic intellectual disability characterized by developmental delay, impaired intellectual development, dysmorphic features, and congenital anomalies in cardiovascular, skeletal, gastrointestinal, renal, and urogenital systems that has_material_basis_in heterozygous mutation in the FRY-like transcription coactivator gene on chromosome 4p11.
Also Known As "PCBS"
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DO.org
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Data Class Field Records
Human Disease Models (FBhh)  DOID       1
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 Genes Human Disease Models
 Pan-Chung-Bellen syndrome       1      1
 for disease ribbon | Pan-Chung-Bellen syndrome       1       --
 model of | Pan-Chung-Bellen syndrome       1       --
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease_________
intellectual disability                |
 |__syndromic intellectual disability__|
                                       Pan-Chung-Bellen syndrome  2 rec.
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Is a autosomal dominant disease
syndromic intellectual disability
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Synonyms
  • "PCBS" EXACT OMO:0003012
Secondary IDs
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MIM:621049