ZFIN Human Disease: primary ciliary dyskinesia 44

OBO ID: DOID:0111851

Term Name:	primary ciliary dyskinesia 44		Search Ontology:
Synonyms:	CILD44 primary ciliary dyskinesia 44 without situs inversus
Definition:	A primary ciliary dyskinesia characterized by recurrent sinopulmonary infections, defective mucociliary clearance, short respiratory epithelial cell motile cilia with decreased motility, and absence of situs inversus that has_material_basis_in homozygous or compound heterozygous mutation in the NEK10 gene on chromosome 3p24.1. https://www.ncbi.nlm.nih.gov/pubmed/31959991
References:	OMIM:618781
Ontology:	Human Disease ( DOID:0111851 )

Relationships

is a type of:	autosomal recessive disease primary ciliary dyskinesia autosomal recessive disease primary ciliary dyskinesia Show first 5 Terms

OTHER primary ciliary dyskinesia 44 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
NEK10	nek10	Ciliary dyskinesia, primary, 44	618781

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None