FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term Jalili syndrome ID (Ontology) DOID:0111404 (Human Disease)
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.
Also Known As "Cone rod dystrophy-amelogenesis imperfecta syndrome" ; "cone-rod dystrophy and amelogenesis imperfecta"
Comment
Links to External Ontologies
DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
    Results list data from multiple species. Click on a button above and use the 'Filter by species' options on the resulting HitList to retrieve species-specific data.
Records annotated with this exact term (annotations to child terms are NOT included)
No relevant records available
show Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
 Full annotation statements 
Relevant FlyBase reports
 Genes
 Jalili syndrome       1
 for disease ribbon | Jalili syndrome       1
 model of | Jalili syndrome       1
Spanning Tree (Parents/Children)
Only view relationship: 
autosomal genetic disease
 |__autosomal recessive disease__
disease                          |
 |__syndrome_____________________|
                                 Jalili syndrome  1 rec.
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a autosomal recessive disease
syndrome
Part of
hide Synonyms & Secondary IDs
Synonyms
  • "Cone rod dystrophy-amelogenesis imperfecta syndrome" EXACT
    "cone-rod dystrophy and amelogenesis imperfecta" EXACT
Secondary IDs
hide External Crossreferences & Linkouts
GARD:1463
MESH:C000596385
MIM:217080
ORDO:1873
SNOMEDCT_US_2023_03_01:707608003
UMLS_CUI:C3495589