Preferred Name | ocular albinism 1 | |
Synonyms |
ocular albinism Albinism ocular 1 |
|
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 |
ocular albinism Albinism ocular 1 |
|
database_cross_reference |
MESH:D016117 MIM:300500 |
|
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 |
ocular albinism Albinism ocular 1 |
|
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 | DDSS | SAME_URI | |
http://purl.obolibrary.org/obo/DOID_0050633 | NIFSTD | 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 | DDSS | LOOM | |
http://purl.obolibrary.org/obo/DOID_0050633 | NIFSTD | LOOM |