Term Name:	spondyloepiphyseal dysplasia, Holling type
Synonyms:	SEDH
Definition:	A spondyloepiphyseal dysplasia characterized by disproportionate short stature and abnormalities of both the axial and appendicular skeleton with epiphyseal anomalies most prominent that has_material_basis_in homozygous mutation in the BNIP1 gene on chromosome 5q35.
Ontology:	Human Disease [DOID:0070825]   ( DOID:0070825 )