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spondylometaepiphyseal dysplasia, short limb-hand type
Summary
- Synonym
-
- 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 the DDR2 gene on chromosome 1q23.3.
- Super Class
- autosomal recessive disease spondyloepimetaphyseal dysplasia
External Links
- Disease Ontology
- DOID:0112196
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
- WikiPathways (from TogoID)
Related Genes
