spondylometaepiphyseal dysplasia, short limb-hand type

Summary

DOID:0112196 - spondylometaepiphyseal dysplasia, short limb-hand type

Disease Ontology 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 the DDR2 gene on chromosome 1q23.3.

Synonyms: SMED short limb-abnormal calcification type, SMED short limb-hand type, SMED-SL, SMED-SL/AC, SMED type 2, SMED, type II, spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome, spondylometaepiphyseal dysplasia short limb-hand type

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: ddr2, ddr2l

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), spondyloepimetaphyseal dysplasia (is_a)