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Metadata
ID	DOID:0112281
Name	spondyloepiphyseal dysplasia Stanescu type
Definition	A spondyloepiphyseal dysplasia characterized by accumulation of glycoprotein in chondrocytes, progressive joint contracture with premature degenerative joint disease, generalized platyspondyly, hypoplastic pelvis, epiphyseal flattening with metaphyseal splaying of the long bones, and enlarged phalangeal epimetaphyses of the hands that has_material_basis_in heterozygous mutation in COL2A1 on chromosome 12q13.11. https://pubmed.ncbi.nlm.nih.gov/26183434/, https://pubmed.ncbi.nlm.nih.gov/6430256/, https://pubmed.ncbi.nlm.nih.gov/9592900/
Xrefs	MIM:616583 ORDO:459051
Subsets	DO_rare_slim
Synonyms	SED Stanescu type [EXACT] SEDSTN [EXACT]
Parent Relationships	is_a spondyloepiphyseal dysplasia is_a autosomal dominant disease