Search Ontology:
Human Disease

spondyloepiphyseal dysplasia with punctate corneal dystrophy

Term ID
DOID:0112286
Synonyms
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/
References
Ontology
Human Disease   ( DOID:0112286 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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