spondyloepimetaphyseal dysplasia, aggrecan type
Spondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings
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spondyloepimetaphyseal dysplasia, aggrecan type
Summary
spondyloepimetaphyseal dysplasia, aggrecan type is a developmental defect during embryogenesis[1].
Key Facts
- spondyloepimetaphyseal dysplasia, aggrecan type's instance of is recorded as developmental defect during embryogenesis[2].
- spondyloepimetaphyseal dysplasia, aggrecan type's instance of is recorded as rare disease[3].
- spondyloepimetaphyseal dysplasia, aggrecan type's instance of is recorded as class of disease[4].
- spondyloepimetaphyseal dysplasia, aggrecan type is a type of aggrecan-related bone disorder[5].
- spondyloepimetaphyseal dysplasia, aggrecan type's genetic association is recorded as ACAN[6].
- spondyloepimetaphyseal dysplasia, aggrecan type's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_171866[7].