Disease association ontology term - MONDO:0009032 - cranioectodermal dysplasia

Term summary

ID

MONDO:0009032

Name

cranioectodermal dysplasia

Ontology or CV name

Disease association

Definition

Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa).

Parents

• is_a craniosynostosis syndrome, autosomal recessive
• is_a syndromic craniosynostosis
• is_a short rib-polydactyly syndrome
• is_a inherited renal tubular disease
• is_a ectodermal dysplasia syndrome

Annotation