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loading...| Preferred Name | Cone-Rod Dystrophy 2 | |
| Synonyms |
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| Definitions |
An inherited condition caused by mutations in the CRX gene, encoding cone-rod homeobox protein. It is characterized by loss of visual acuity in early childhood or late adolescence, impaired color vision, loss of peripheral vision, and nyctalopia. The severity of symptoms may vary. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C162399 |
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| code |
C162399 |
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| Contributing_Source |
Cellosaurus |
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| definition |
An inherited condition caused by mutations in the CRX gene, encoding cone-rod homeobox protein. It is characterized by loss of visual acuity in early childhood or late adolescence, impaired color vision, loss of peripheral vision, and nyctalopia. The severity of symptoms may vary. |
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| in_subset | ||
| label |
Cone-Rod Dystrophy 2 |
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| Preferred_Name |
Cone-Rod Dystrophy 2 |
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| prefixIRI |
NCIT:C162399 |
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| prefLabel |
Cone-Rod Dystrophy 2 |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C3489532 |
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| subClassOf |
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