Disease association ontology term - MONDO:0008879 - Bowen-Conradi syndrome

Term summary

ID

MONDO:0008879

Name

Bowen-Conradi syndrome

Ontology or CV name

Disease association

Definition

Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, microcephaly, a distinctive facial appearance, extreme psychomotor delay, hip and knee contractures and rockerbottom feet.

Parents

• excluded_subClassOf syndromic intellectual disability
• is_a autosomal recessive disease
• is_a multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Annotation