Disease association ontology term - MONDO:1040051 - IMPDH1-related retinopathy
Term summary
ID
MONDO:1040051
Name
IMPDH1-related retinopathy
Ontology or CV name
Disease association
Definition
Any retinopathy caused by a variant in the IMPDH1 gene.
Parents
is_a
inherited retinal dystrophy
Annotation
Disease association
MONDO:0013454
-
Leber congenital amaurosis 11
References:
PB_REF:0000006
Genes:
gua1 (SPBC2F12.14c)
MONDO:0008379
-
retinitis pigmentosa 10
References:
PB_REF:0000006
Genes:
gua1 (SPBC2F12.14c)