loading...| Preferred Name | ocular albinism | |
| Synonyms |
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| Definitions |
An eye disease that is characterized by reduced pigmentation of the iris and the resulting impairment of visual acuity without significantly affecting the color of skin or hair and has_material_basis in mutation in the GPR143 gene that encodes segments of the melanosomes that stores melanin. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0050633 |
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| database_cross_reference |
OMIM:300500 MESH:D016117 |
|
| definition |
An eye disease that is characterized by reduced pigmentation of the iris and the resulting impairment of visual acuity without significantly affecting the color of skin or hair and has_material_basis in mutation in the GPR143 gene that encodes segments of the melanosomes that stores melanin. |
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| has_obo_namespace |
disease_ontology |
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| IAO_0000115 |
An eye disease that is characterized by reduced pigmentation of the iris and the resulting impairment of visual acuity without significantly affecting the color of skin or hair and has_material_basis in mutation in the GPR143 gene that encodes segments of the melanosomes that stores melanin. |
|
| id |
DOID:0050633 |
|
| label |
ocular albinism |
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| notation |
DOID:0050633 |
|
| note |
An eye disease that is characterized by reduced pigmentation of the iris and the resulting impairment of visual acuity without significantly affecting the color of skin or hair and has_material_basis in mutation in the GPR143 gene that encodes segments of the melanosomes that stores melanin. |
|
| prefLabel |
ocular albinism |
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| subClassOf |