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Metadata
DOID 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 homozygous or compound heterozygous mutation in the HSPG2 gene on chromosome 1p36.
Xrefs

ICD10CM:Q77.7

OMIM:224410

ORDO:1865

Relationships

is_a osteochondrodysplasia

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