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loading...| Preferred Name |
Bothnia retinal dystrophy |
| Synonyms |
Vasterbotten dystrophy |
| Definitions |
A fundus dystrophy that is characterized by early onset of night blindness and decreased visual acuity that progresses to blindness in early adulthood, has_material_basis_in mutation in RLBP1 gene. OMIM mapping confirmed by DO. [SN]. |
| ID |
http://purl.obolibrary.org/obo/DOID_0050683 |
| comment |
OMIM mapping confirmed by DO. [SN]. |
| database_cross_reference |
MESH:C564392 OMIM:607475 |
| definition |
A fundus dystrophy that is characterized by early onset of night blindness and decreased visual acuity that progresses to blindness in early adulthood, has_material_basis_in mutation in RLBP1 gene. |
| has exact synonym |
Vasterbotten dystrophy |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0050683 |
| label |
Bothnia retinal dystrophy |
| notation |
DOID:0050683 |
| prefLabel |
Bothnia retinal dystrophy |
| subClassOf |
Create New Mapping
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MESH/C564392 | Medical Subject Headings | LOOM | |
| http://purl.bioontology.org/ontology/OMIM/607475 | Online Mendelian Inheritance in Man | LOOM |