About   Help   FAQ
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
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
MGI 6.13
The Jackson Laboratory