Term Name: spondyloepiphyseal dysplasia with punctate corneal dystrophy
Synonyms:
Definition: A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia and punctate dystrophy of the full depth of the corneal stroma.
Ontology: Human Disease [DOID:0112286]   ( DOID:0112286 )

Relationships
is a type of: spondyloepiphyseal dysplasia