loading...| Preferred Name |
JALILI SYNDROME |
| Synonyms |
CONE-ROD DYSTROPHY AND AMELOGENESIS IMPERFECTA |
| ID |
http://purl.bioontology.org/ontology/OMIM/217080 |
| altLabel |
CONE-ROD DYSTROPHY AND AMELOGENESIS IMPERFECTA |
| cui |
C3495589 |
| Gene Locus |
2q11.2 |
| Gene Symbol |
ACDP4 CNNM4 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU013747 http://purl.bioontology.org/ontology/OMIM/MTHU036378 http://purl.bioontology.org/ontology/OMIM/MTHU004627 http://purl.bioontology.org/ontology/OMIM/MTHU003279 http://purl.bioontology.org/ontology/OMIM/MTHU000235 http://purl.bioontology.org/ontology/OMIM/MTHU013746 http://purl.bioontology.org/ontology/OMIM/MTHU013744 http://purl.bioontology.org/ontology/OMIM/MTHU037342 http://purl.bioontology.org/ontology/OMIM/MTHU001509 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
217080 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
JALILI SYNDROME |
| Scope Statement |
Caused by mutation in the cyclin M4 gene (CNNM4, 607805.0001) [MOLECULAR BASIS] |
| tui |
T047 |