| Metadata | |
|---|---|
| ID | DOID:0111404 |
| Name | Jalili syndrome |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/19200527, https://www.ncbi.nlm.nih.gov/pubmed/3236352 |
| Xrefs |
SNOMEDCT_US_2023_03_01:707608003 |
| Subsets |
DO_rare_slim |
| Synonyms |
Cone rod dystrophy-amelogenesis imperfecta syndrome [EXACT] cone-rod dystrophy and amelogenesis imperfecta [EXACT] |
| Parent Relationships |
is_a syndrome |