OBO ID: DOID:0112281
Term Name: spondyloepiphyseal dysplasia Stanescu type Search Ontology:
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)
OTHER spondyloepiphyseal dysplasia Stanescu type PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
COL2A1 Spondyloepiphyseal dysplasia, Stanescu type 616583
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None