Term Name:	Silverman-Handmaker type dyssegmental dysplasia
Synonyms:
Definition:	An osteochondrodysplasia characterized by short-limbed dwarfism, anisospondyly, and neonatal lethality that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding perlecan (HSPG2) on chromosome 1p36.
Ontology:	Human Disease [DOID:0090032]   ( DOID:0090032 )