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About: primary ciliary dyskinesia 15     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 15
described by
id
  • DOID:0110623
database_cross_reference
  • ICD10CM:Q34.8
  • OMIM:613808
has_exact_synonym
  • primary ciliary dyskinesia 15 with or without situs inversus (en)
  • CILD15 (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 inner dynein arm defect, axonemal disorganization, recurrent respiratory infections and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC40 gene on chromosome 17q25.
is topic of
is annotatedSource of
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