ZFIN Human Disease: primary ciliary dyskinesia 39

OBO ID: DOID:0111854

Term Name:	primary ciliary dyskinesia 39		Search Ontology:
Synonyms:	CILD39 primary ciliary dyskinesia 39 with or without situs inversus
Definition:	A primary ciliary dyskinesia characterized by ciliary kinetic defects in some patients, chronic sinopulmonary infections beginning soon after birth and laterality defects in about half of patients that has_material_basis_in homozygous or compound heterozygous mutation in the LRRC56 gene on chromosome 11p15.5. https://www.ncbi.nlm.nih.gov/pubmed/30388400
References:	OMIM:618254
Ontology:	Human Disease ( DOID:0111854 )

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 39 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
LRRC56	lrrc56	Ciliary dyskinesia, primary, 39	618254

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None