OBO ID: DOID:0112196
Term Name: spondylometaepiphyseal dysplasia, short limb-hand type Search Ontology:
Synonyms:
  • SMED short limb-abnormal calcification type
  • SMED short limb-hand type
  • SMED type 2
  • SMED, type II
  • SMED-SL
  • SMED-SL/AC
  • spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
  • spondylometaepiphyseal dysplasia short limb-hand type
Definition: A spondyloepimetaphyseal dysplasia characterized by short stature, short limbs and hands, and typical radiological features which include platyspondyly, metaphyseal, and epiphyseal involvement, short tubular bones of the limbs, and abnormal calcification of cartilage that has_material_basis_in homozygous or compound heterozygous mutation in DDR2 on chromosome 1q23.3. (2)
References:
Ontology: Human Disease   (DOID:0112196)
OTHER spondylometaepiphyseal dysplasia, short limb-hand type PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
DDR2 Spondylometaepiphyseal dysplasia, short limb-hand type 271665
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None