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Disease Ontology Browser
Jalili syndrome (DOID:0111404)
Alliance: disease page
Synonyms: Cone rod dystrophy-amelogenesis imperfecta syndrome; cone-rod dystrophy and amelogenesis imperfecta
Alt IDs: OMIM:217080, MESH:C000596385, ORDO:1873, UMLS_CUI:C3495589
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.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
01/24/2023
MGI 6.22
The Jackson Laboratory