FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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Term Culler-Jones syndrome ID (Ontology) DOID:0080328 (Human Disease)
Definition A syndrome that is characterized by hypopituitarism (mainly growth hormone deficiency), and/or postaxial polydactyly and has_material_basis_in autosomal dominant heterozygous mutation in the GLI2 gene on chromosome 2q14. Midline facial defects and developmental delay can also be seen. The condition shows incomplete penetrance and high variable expressivity.
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 Genes
 Culler-Jones syndrome       1
 for disease ribbon | Culler-Jones syndrome       1
 model of | Culler-Jones syndrome       1
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autosomal genetic disease
 |__autosomal dominant disease__
disease                         |
 |__syndrome____________________|
                                Culler-Jones syndrome  1 rec.
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Is a autosomal dominant disease
syndrome
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GARD:13349
MIM:615849