Preferred Name |
cone-rod dystrophy 3 |
|
Synonyms |
CORD3 |
|
Definitions |
A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA4 gene on chromosome 1p22. |
|
ID |
http://purl.obolibrary.org/obo/DOID_0111013 |
|
database_cross_reference |
MESH:C565827 OMIM:604116 GARD:10653 |
|
has exact synonym |
CORD3 |
|
has_obo_namespace |
disease_ontology |
|
id |
DOID:0111013 |
|
in_subset | ||
label |
cone-rod dystrophy 3 |
|
notation |
DOID:0111013 |
|
prefLabel |
cone-rod dystrophy 3 |
|
textual definition |
A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA4 gene on chromosome 1p22. |
|
subClassOf |
Create mapping