Disease association ontology term - MONDO:0014602 - Houge-Janssens syndrome 1

Term summary

ID

MONDO:0014602

Name

Houge-Janssens syndrome 1

Ontology or CV name

Disease association

Definition

An autosomal dominant intellectual developmental disorder that has material basis in an autosomal dominant mutation of the PPP2R5D gene on chromosome 6p21.1.

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
• is_a Houge-Janssens syndrome

Annotation