Disease association ontology term - MONDO:0019675 - spondyloepimetaphyseal dysplasia with joint laxity

Term summary

ID

MONDO:0019675

Name

spondyloepimetaphyseal dysplasia with joint laxity

Ontology or CV name

Disease association

Definition

A form of skeletal dysplasia characterized by severe dwarfism, generalized articular hypermobility, and progressive spinal malalignment.

Parents

• excluded_subClassOf spondyloepiphyseal dysplasia
• excluded_subClassOf obsolete disorder of O-xylosylglycan synthesis (obsolete MONDO:0017742)
• excluded_subClassOf obsolete congenital disorder of glycosylation-related bone disorder (obsolete MONDO:0018292)
• excluded_subClassOf obsolete congenital disorder of glycosylation with skin involvement (obsolete MONDO:0018293)
• is_a spondyloepimetaphyseal dysplasia

Annotation