JSON

ABCA4 retinoapthy

^ http://purl.obolibrary.org/obo/MONDO_0800406


An inherited retinopathy caused by bi-allelic variants in the ABCA4 gene. [ https://clinicalgenome.org/affiliation/40072/ MONDO:patterns/disease_series_by_gene ]

Term info

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/6138, https://github.com/monarch-initiative/mondo/issues/5693

definition

An inherited retinopathy caused by bi-allelic variants in the ABCA4 gene.

has exact synonym

ABCA4-related retinoapthy

id

MONDO:0800406

Term relations