Disease association ontology term - MONDO:0009727 - atelosteogenesis type II

Term summary

ID

MONDO:0009727

Name

atelosteogenesis type II

Ontology or CV name

Disease association

Definition

A lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene.

Parents

• excluded_subClassOf syndromic intellectual disability
• excluded_subClassOf multiple congenital anomalies/dysmorphic syndrome-intellectual disability
• is_a mineral metabolism disease
• is_a atelosteogenesis
• is_a inborn errors of metabolism
• is_a SLC26A2-related skeletal dysplasia

Annotation