Disease association ontology term - MONDO:0031007 - spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis

Term summary

ID: MONDO:0031007
Name: spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis
Ontology or CV name: Disease association

Parents

is_a congenital nervous system disorder
is_a NMNAT1-related retinopathy

Annotation

Disease association

MONDO:0031007 - spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis

References:

PB_REF:0000006

Genes:

SPAC806.06c