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Metadata
ID DOID:0112197
Name spondyloepimetaphyseal dysplasia with joint laxity
Definition A spondyloepimetaphyseal dysplasia characterized by spinal abnormalities and gross articular hypermobility.
https://pubmed.ncbi.nlm.nih.gov/30358852/
Xrefs

GARD:4982

MESH:C562968

OMIM:PS271640

ORDO:93359

Subsets

DO_rare_slim

Synonyms

SEMDJL [EXACT]

Parent Relationships

is_a spondyloepimetaphyseal dysplasia

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