Disease association ontology term - MONDO:0016817 - Meier-Gorlin syndrome

Term summary

ID

MONDO:0016817

Name

Meier-Gorlin syndrome

Ontology or CV name

Disease association

Definition

Ear-patella-short stature syndrome is an association of malformations including bilateral microtia (severe hypoplasia of ear pinnae), absent patellae, short stature, poor weight gain, and characteristic facial features such as high forehead, micrognathism with full lips and small mouth, and accentuated nasolabial folds (smile wrinkles linking the nostrils to the labial commissure).

Parents

• is_a syndromic disease
• is_a autosomal recessive disease
• is_a multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome

Annotation