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Metadata
ID	DOID:0090032
Name	Silverman-Handmaker type dyssegmental dysplasia
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. https://ghr.nlm.nih.gov/gene/HSPG2#conditions, https://www.omim.org/entry/224410
Xrefs	ICD10CM:Q77.7 OMIM:224410 ORDO:1865
Subsets	DO_rare_slim
Parent Relationships	is_a osteochondrodysplasia is_a autosomal recessive disease