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About: Silverman-Handmaker type dyssegmental dysplasia     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

AttributesValues
type
subClassOf
label
  • Silverman-Handmaker type dyssegmental dysplasia
described by
id
  • DOID:0090032
database_cross_reference
  • ICD10CM:Q77.7
  • OMIM:224410
  • ORDO:1865
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • 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.
is topic of
is annotatedSource of
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