Silverman-Handmaker type dyssegmental dysplasia

Summary

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:

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: hspg2

MIM:

MIM:224410 - dyssegmental dysplasia, silverman-handmaker type; ddsh

MIM:224410 - dyssegmental dysplasia, silverman-handmaker type; ddsh

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)