OBO ID: DOID:0110594
Term Name: primary ciliary dyskinesia 1 Search Ontology:
Synonyms:
  • CILD1
  • primary ciliary dyskinesia 1 with or without situs inversus
Definition: A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect and in about half of patients situs inversus and has_material_basis_in compound heterozygous mutation in the DNAI1 gene on chromosome 9p13. (2)
References:
Ontology: Human Disease   ( DOID:0110594 )
Relationships
is a type of:
OTHER primary ciliary dyskinesia 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
DNAI1 Ciliary dyskinesia, primary, 1, with or without situs inversus 244400
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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