Disease association ontology term - MONDO:0010121 - thrombocytopenia-absent radius syndrome

Term summary

ID

MONDO:0010121

Name

thrombocytopenia-absent radius syndrome

Ontology or CV name

Disease association

Definition

Thrombocytopenia-absent radius (TAR) syndrome is a very rare congenital malformation syndrome characterized by bilateral radial aplasia and thrombocytopenia.

Parents

• excluded_subClassOf syndrome caused by partial chromosomal deletion
• is_a syndromic disease
• is_a congenital hematological disorder
• is_a dysostosis
• is_a syndromic constitutional thrombocytopenia
• is_a congenital limb malformation
• is_a non-syndromic limb reduction defect

Annotation