ZFIN Human Disease: primary ciliary dyskinesia 41

OBO ID: DOID:0111858

Term Name:	primary ciliary dyskinesia 41		Search Ontology:
Synonyms:	CILD41
Definition:	A primary ciliary dyskinesia characterized by hyperkinetic ciliary beat patterns, defects in ciliary orientation, chronic sinusitis, otitis media, and bronchiectasis that has_material_basis_in homozygous or compound heterozygous mutation in the GAS2L2 gene on chromosome 17q12. https://www.ncbi.nlm.nih.gov/pubmed/30665704
References:	OMIM:618449
Ontology:	Human Disease ( DOID:0111858 )

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 41 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
GAS2L2	gas2l2	?Ciliary dyskinesia, primary, 41	618449

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None