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Metadata
ID DOID:0080028
Name spondyloepimetaphyseal dysplasia, Strudwick type
Definition A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the COL2A1 gene which results_in short stature and multiple skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).
http://en.wikipedia.org/wiki/Spondyloepimetaphyseal_dysplasia\,_Strudwick_type, http://ghr.nlm.nih.gov/condition/spondyloepimetaphyseal-dysplasia-strudwick-type
Xrefs

GARD:134

OMIM:184250

ORDO:93346

Subsets

DO_rare_slim

Parent Relationships

is_a spondyloepimetaphyseal dysplasia

is_a autosomal dominant disease

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