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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: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