loading...| Preferred Name | ocular albinism 1 | |
| Synonyms |
Albinism ocular 1 ocular albinism |
|
| 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. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_0050633 |
|
| alternative label |
Albinism ocular 1 ocular albinism |
|
| 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. |
|
| has exact synonym |
Albinism ocular 1 ocular albinism |
|
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:0050633 |
|
| label |
ocular albinism 1 |
|
| 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. |
|
| preferred label |
ocular albinism 1 |
|
| prefLabel |
ocular albinism 1 |
|
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/DOID_0050633 | DTO | SAME_URI | |
| http://purl.obolibrary.org/obo/DOID_0050633 | DOID | SAME_URI | |
| http://purl.obolibrary.org/obo/DOID_0050633 | BAO | SAME_URI | |
| http://purl.obolibrary.org/obo/DOID_0050633 | HHEAR | SAME_URI | |
| http://purl.obolibrary.org/obo/DOID_0050633 | DDSS | SAME_URI | |
| http://purl.obolibrary.org/obo/DOID_0050633 | MIDO | SAME_URI | |
| http://purl.obolibrary.org/obo/DOID_0050633 | FNS-H | SAME_URI | |
| http://purl.obolibrary.org/obo/DOID_0050633 | DOID | LOOM | |
| http://purl.obolibrary.org/obo/DOID_0050633 | HHEAR | LOOM | |
| http://purl.obolibrary.org/obo/DOID_0050633 | DDSS | LOOM |