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Metadata
ID DOID:0112280
Name spondyloepiphyseal dysplasia
Definition An osteochondrodysplasia characterized by skeletal dysplasia mainly involving the spine and proximal epiphyses resulting in shortening of the trunk and limbs.
https://pubmed.ncbi.nlm.nih.gov/16080123/, https://emedicine.medscape.com/article/1260836-overview
Xrefs

GARD:7687

Subsets

DO_rare_slim

Synonyms

SED [EXACT]

Parent Relationships

is_a osteochondrodysplasia

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