Disease association ontology term - MONDO:0013578 - DYRK1A-related intellectual disability syndrome

Term summary

ID

MONDO:0013578

Name

DYRK1A-related intellectual disability syndrome

Ontology or CV name

Disease association

Definition

An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of DYRK1A on chromosome 21q22.13.

Parents

• excluded_subClassOf autosomal dominant non-syndromic intellectual disability
• is_a congenital nervous system disorder
• is_a multiple congenital anomalies/dysmorphic syndrome-intellectual disability
• is_a autosomal dominant syndromic intellectual disability

Annotation