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loading...| Preferred Name |
cone-rod dystrophy 12 |
| Synonyms |
CORD12 |
| Definitions |
A cone-rod dystrophy that has_material_basis_in homozygous or heterozygous mutation in the PROM1 gene on chromosome 4p15. |
| ID |
http://purl.obolibrary.org/obo/DOID_0111019 |
| database_cross_reference |
OMIM:612657 MESH:C567206 |
| definition |
A cone-rod dystrophy that has_material_basis_in homozygous or heterozygous mutation in the PROM1 gene on chromosome 4p15. |
| has exact synonym |
CORD12 |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0111019 |
| label |
cone-rod dystrophy 12 |
| notation |
DOID:0111019 |
| prefLabel |
cone-rod dystrophy 12 |
| subClassOf |
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| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MESH/C567206 | Medical Subject Headings | LOOM | |
| http://purl.bioontology.org/ontology/OMIM/612657 | Online Mendelian Inheritance in Man | LOOM |