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Summary Literature (0)
DOID:0111404 - Jalili syndrome

Disease Ontology Definition:A syndrome characterized by amelogenesis imperfecta and cone-rod retinal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in CNNM4 on chromosome 2q11.2.

Synonyms: Cone rod dystrophy-amelogenesis imperfecta syndrome, cone-rod dystrophy and amelogenesis imperfecta,

Xenbase Genes : cnnm4



Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), syndrome (is_a)