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Summary Literature (0)
DOID:0090032 - Silverman-Handmaker type dyssegmental dysplasia


Disease Ontology 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.

Synonyms:

Xenbase Genes : hspg2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009140 - Silverman-Handmaker type dyssegmental dysplasia


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), osteochondrodysplasia (is_a)