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Disease association ontology term - MONDO:0008471 - spondyloepiphyseal dysplasia congenita

Term summary

ID
MONDO:0008471
Name
spondyloepiphyseal dysplasia congenita
Ontology or CV name
Disease association
Definition
A chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies.

Parents

Annotation

Disease association

MONDO:0008471 - spondyloepiphyseal dysplasia congenita

References:

Genes: