OBO ID: DOID:0111404
Term Name: Jalili syndrome Search Ontology:
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 Jalili syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CNNM4 Jalili syndrome 217080
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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