Metadata | |
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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://www.omim.org/entry/224410, https://ghr.nlm.nih.gov/gene/HSPG2#conditions |
Xrefs | |
Subsets |
DO_rare_slim |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |