ZFIN Human Disease: primary ciliary dyskinesia 43

OBO ID: DOID:0111856

Term Name:	primary ciliary dyskinesia 43		Search Ontology:
Synonyms:	CILD43 primary ciliary dyskinesia 43 with or without situs inversus
Definition:	A primary ciliary dyskinesia characterized by reduced generation of multiple motile cilia, onset of respiratory insufficiency soon after birth, recurrent upper and lower respiratory infections,variable infertility, and laterality defects in about half of patients that has_material_basis_in heterozygous mutation in FOXJ1 on chromosome 17q25.1. https://www.ncbi.nlm.nih.gov/pubmed/31630787
References:	OMIM:618699
Ontology:	Human Disease ( DOID:0111856 )

Relationships

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

OTHER primary ciliary dyskinesia 43 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
FOXJ1	foxj1b foxj1a	Ciliary dyskinesia, primary, 43	618699

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None