Disease association ontology term - MONDO:0011402 - congenital cataracts-facial dysmorphism-neuropathy syndrome

Term summary

ID

MONDO:0011402

Name

congenital cataracts-facial dysmorphism-neuropathy syndrome

Ontology or CV name

Disease association

Definition

Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance.

Parents

• excluded_subClassOf syndromic intellectual disability
• excluded_subClassOf obsolete syndromic epicanthus (obsolete MONDO:0020165)
• is_a congenital nervous system disorder
• is_a multiple congenital anomalies/dysmorphic syndrome-intellectual disability
• is_a partial duplication of the short arm of chromosome 16
• is_a autosomal recessive degenerative and progressive cerebellar ataxia

Annotation