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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
| MIM:217080 - JALILI SYNDROME |
Other Model Organisms: Alliance, 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)