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General Information
ZIRC
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. https://www.ncbi.nlm.nih.gov/pubmed/?term=29298444
References:
Ontology: Human Disease   (DOID:0080328)
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