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Human Disease
Silverman-Handmaker type dyssegmental dysplasia
- Term ID
- DOID:0090032
- Synonyms
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- 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
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- ICD10CM:Q77.7
- MIM:224410
- ORDO:1865
- Ontology
- Human Disease ( DOID:0090032 )
- is a type of
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