loading...| Preferred Name | Ocular albinism | |
| Synonyms |
Albinism, Ocular Absent pigmentation in the eye |
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| Definitions |
An abnormal reduction in the amount of pigmentation (reduced or absent) of the iris and retina. Ocular pigmentation is essential for normal vision, and persons with ocular albinism tend to have severely reduced visual acuity often associated with nystagmus, strabismus, and photophobia. |
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| ID |
http://purl.obolibrary.org/obo/HP_0001107 |
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| comment |
Ocular pigmentation is essential for normal vision, and persons with ocular albinism tend to have severely reduced visual acuity often associated with nystagmus, strabismus, and photophobia. |
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| database_cross_reference |
SNOMEDCT_US:26399002 UMLS:C0078917 |
|
| definition |
An abnormal reduction in the amount of pigmentation (reduced or absent) of the iris and retina. |
|
| has_alternative_id |
HP:0007745 HP:0007837 |
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| has_exact_synonym |
Albinism, Ocular Absent pigmentation in the eye |
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| has_obo_namespace |
human_phenotype |
|
| id |
HP:0001107 |
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| label |
Ocular albinism |
|
| notation |
HP:0001107 |
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| prefLabel |
Ocular albinism |
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| treeView | ||
| subClassOf |