Disease association ontology term - MONDO:0011640 - genitopatellar syndrome

Term summary

ID

MONDO:0011640

Name

genitopatellar syndrome

Ontology or CV name

Disease association

Definition

Genitopatellar syndrome is a rare congenital patellar anomaly syndrome characterized by patellar aplasia or hypoplasia associated with microcephaly, characteristic coarse facial features (microcephaly, bitemporal narrowing, large, broad nose with high nasal bridge, prominent cheeks and micro/retrognathia or prognathism), arthrogryposis of the hips and knees, urogenital abnormalities and intellectual deficiency.

Parents

• excluded_subClassOf syndromic intellectual disability
• is_a syndromic disease
• is_a multiple congenital anomalies/dysmorphic syndrome-intellectual disability
• is_a skeletal dysplasia
• is_a dysostosis

Annotation