Search Ontology:
Human Disease

Jalili syndrome

Term ID
DOID:0111404
Synonyms
  • Cone rod dystrophy-amelogenesis imperfecta syndrome
  • cone-rod dystrophy and amelogenesis imperfecta
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. (2)
References
Ontology
Human Disease   ( DOID:0111404 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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