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loading...| Preferred Name |
Jalili syndrome |
| Synonyms |
cone-rod dystrophy and amelogenesis imperfecta |
| Definitions |
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. |
| ID |
http://purl.obolibrary.org/obo/DOID_0111404 |
| database_cross_reference |
OMIM:217080 MESH:C000596385 UMLS_CUI:C3495589 GARD:1463 ORDO:1873 SNOMEDCT_US_2022_09_01:707608003 |
| 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. |
| has exact synonym |
cone-rod dystrophy and amelogenesis imperfecta Cone rod dystrophy-amelogenesis imperfecta syndrome |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0111404 |
| in_subset | |
| label |
Jalili syndrome |
| notation |
DOID:0111404 |
| prefLabel |
Jalili syndrome |
| subClassOf |
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