Disease association ontology term - MONDO:0002457 - Treacher-Collins syndrome

Term summary

ID

MONDO:0002457

Name

Treacher-Collins syndrome

Ontology or CV name

Disease association

Definition

A congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects.

Parents

• excluded_subClassOf obsolete branchial arch or oral-acral syndrome (obsolete MONDO:0015334)
• excluded_subClassOf obsolete neuro-ophthalmological disease (obsolete MONDO:0015368)
• excluded_subClassOf obsolete syndromic palpebral coloboma (obsolete MONDO:0020157)
• excluded_subClassOf obsolete malposition of external canthus (obsolete MONDO:0020167)
• excluded_subClassOf obsolete eyebrow/eyelashes distichiasis (obsolete MONDO:0020190)
• is_a autosomal dominant disease
• is_a syndromic disease
• is_a multiple congenital anomalies/dysmorphic syndrome without intellectual disability
• is_a mandibulofacial dysostosis

Annotation