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loading...| Preferred Name |
cone-rod dystrophy 16 |
| Synonyms |
CORD16 |
| Definitions |
A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the C8ORF37 gene on chromosome 8q22. |
| ID |
http://purl.obolibrary.org/obo/DOID_0111022 |
| database_cross_reference |
OMIM:614500 |
| definition |
A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the C8ORF37 gene on chromosome 8q22. |
| has exact synonym |
CORD16 retinal dystrophy with early macular involvement |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0111022 |
| label |
cone-rod dystrophy 16 |
| notation |
DOID:0111022 |
| prefLabel |
cone-rod dystrophy 16 |
| subClassOf |