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Metadata
ID DOID:0112294
PURL http://purl.obolibrary.org/obo/DOID_0112294 Copy
Name spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and impaired intellectual development
Definition A syndrome characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate, and intellectual disability.
https://pubmed.ncbi.nlm.nih.gov/9557884/
Xrefs

MIM:602611

ORDO:163649

Subsets

DO_rare_slim

Synonyms

spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability [EXACT]

Parent Relationships

is_a syndrome

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