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loading...| Preferred Name |
cataract 12 multiple types |
| Synonyms |
CTRCT12 |
| Definitions |
A cataract that has_material_basis_in heterozygous mutation in the gene encoding beaded filament structural protein-2 (BFSP2) on chromosome 3q22. |
| ID |
http://purl.obolibrary.org/obo/DOID_0110239 |
| database_cross_reference |
OMIM:611597 ICD10CM:Q12.0 |
| definition |
A cataract that has_material_basis_in heterozygous mutation in the gene encoding beaded filament structural protein-2 (BFSP2) on chromosome 3q22. |
| has exact synonym |
CTRCT12 |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0110239 |
| label |
cataract 12 multiple types |
| notation |
DOID:0110239 |
| prefLabel |
cataract 12 multiple types |
| subClassOf |
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