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About: primary ciliary dyskinesia 29     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
  • primary ciliary dyskinesia 29
described by
id
  • DOID:0110600
database_cross_reference
  • ICD10CM:Q34.8
  • OMIM:615872
has_exact_synonym
  • primary ciliary dyskinesia 29 without situs inversus (en)
  • CILD29 (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with oligocilia and early childhood onset of recurrent respiratory infections, and has_material_basis_in homozygous or compound heterozygous mutation in the CCNO gene on chromosome 5p15.
is topic of
is annotatedSource of
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