FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Pitt-Hopkins syndrome ID (Ontology) DOID:0060488 (Human Disease)
Definition A syndrome characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures, and distinctive facial features and that has_material_basis_in heterozygous de novo mutations in the TCF4 gene in chromosome 18q21.
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DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
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Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       6
Human Disease Models (FBhh)  DOID       1
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 Full annotation statements 
Relevant FlyBase reports
 Alleles Genes Human Disease Models
 Pitt-Hopkins syndrome       6      1      1
 for disease ribbon | Pitt-Hopkins syndrome       --       1       --
 model of | Pitt-Hopkins syndrome       6      1       --
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
disease                         |
 |__syndrome____________________|
                                Pitt-Hopkins syndrome  8 rec.
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Is a autosomal dominant disease
syndrome
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Synonyms
Secondary IDs
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GARD:4372
MESH:C537403
MIM:610954
NCI:C129872
ORDO:2896
SNOMEDCT_US_2023_03_01:702344008
UMLS_CUI:C1970431