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Human Disease

Silverman-Handmaker type dyssegmental dysplasia

Term ID
DOID:0090032
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. (2)
References
Ontology
Human Disease   ( DOID:0090032 )
Relationships
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Genes Involved
Zebrafish Models