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Metadata
ID DOID:0112286
PURL http://purl.obolibrary.org/obo/DOID_0112286 Copy
Name spondyloepiphyseal dysplasia with punctate corneal dystrophy
Definition A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia and punctate dystrophy of the full depth of the corneal stroma.
https://pubmed.ncbi.nlm.nih.gov/414988/
Xrefs

MESH:C566660

MIM:183850

Parent Relationships

is_a spondyloepiphyseal dysplasia

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