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Disease Ontology Browser
Silverman-Handmaker type dyssegmental dysplasia (DOID:0090032)
Alliance: disease page
Alt IDs: OMIM:224410, ICD10CM:Q77.7, ORDO:1865
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.

Disease References using Mouse Models (2)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/10/2018
MGI 6.12
The Jackson Laboratory