Term Name: | spondyloepiphyseal dysplasia with punctate corneal dystrophy |
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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 ) |