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Metadata
ID	DOID:14789
Name	spondyloepiphyseal dysplasia congenita
Definition	A spondyloepiphyseal dysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11. https://pubmed.ncbi.nlm.nih.gov/1971141/
Xrefs	GARD:4987 MESH:C535788 OMIM:183900
Alternateids	DOID:0080025
Subsets	DO_rare_slim
Synonyms	Late Spondyloepiphyseal Dysplasia [EXACT]
Parent Relationships	is_a spondyloepiphyseal dysplasia is_a autosomal dominant disease