Term Name:	spondylometaphyseal dysplasia Algerian type
Synonyms:	spondylometaphyseal dysplasia with severe genu valgum, spondylometaphyseal dysplasia, Schmidt type
Definition:	A spondylometaphyseal dysplasia characterized by a short trunk and severe genu valgum and that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.
Ontology:	Human Disease [DOID:0112296]   ( DOID:0112296 )