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Summary Literature (0)
DOID:0080328 - Culler-Jones syndrome


Disease Ontology 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.

Synonyms:

In OMIM:
OMIM:615849 - CULLER-JONES SYNDROME; CJS

In Mondo Disease Ontology:
MONDO:0014369 - postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : gli2

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): autosomal dominant disease (is_a), syndrome (is_a)