WormMine

WS295

Intermine data mining platform for C. elegans and related nematodes

Ontology Relation :

Relationship  is_a Parent Term . Identifier  DOID:9562
Child Term . Identifier  DOID:0110598 Direct  true
Redundant  false

1 Child Term

Identifier Name Description
DOID:0110598 primary ciliary dyskinesia 14 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner dynein arm defect and axonemal disorganization, chronic upper and lower airway infections, and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC39 gene on chromosome 3q26.

1 Parent Term

Identifier Name Description
DOID:9562 primary ciliary dyskinesia A ciliopathy that is characterized by impaired function of the cilia lining the respiratory tract (lower and upper, sinuses, Eustachian tube, middle ear) and fallopian tube.