Search Ontology:
Human Disease

spondyloepiphyseal dysplasia Stanescu type

Term ID
DOID:0112281
Synonyms
  • SED Stanescu type
  • SEDSTN
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. (3)
References
Ontology
Human Disease   ( DOID:0112281 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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