OBO ID: DOID:0080328
Term Name: Culler-Jones syndrome Search Ontology:
Synonyms:
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. https://www.ncbi.nlm.nih.gov/pubmed/?term=29298444
References:
Ontology: Human Disease   ( DOID:0080328 )
Relationships
is a type of:
OTHER Culler-Jones syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GLI2 Culler-Jones syndrome 615849
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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