loading...| Preferred Name |
snowflake vitreoretinal degeneration |
| Synonyms |
vitreoretinal degeneration, snowflake type |
| Definitions |
An eye degenerative disease characterized by fibrillar degeneration of the vitreous humor, early-onset cataract, minute crystalline deposits in the neurosensory retina, and retinal detachment that has_material_basis_in heterozygous mutation in KCNJ13 on chromosome 2q37.1. |
| ID |
http://purl.obolibrary.org/obo/DOID_0111570 |
| database_cross_reference |
ORDO:91496 OMIM:193230 UMLS_CUI:C1860405 MESH:C536677 GARD:9706 |
| definition |
An eye degenerative disease characterized by fibrillar degeneration of the vitreous humor, early-onset cataract, minute crystalline deposits in the neurosensory retina, and retinal detachment that has_material_basis_in heterozygous mutation in KCNJ13 on chromosome 2q37.1. |
| has exact synonym |
vitreoretinal degeneration, snowflake type SVD |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0111570 |
| in_subset | |
| label |
snowflake vitreoretinal degeneration |
| notation |
DOID:0111570 |
| prefLabel |
snowflake vitreoretinal degeneration |
| subClassOf |