ZFIN Human Disease: primary ciliary dyskinesia 40

OBO ID: DOID:0111853

Term Name:	primary ciliary dyskinesia 40		Search Ontology:
Synonyms:	CILD40 primary ciliary dyskinesia 40 with or without situs inversus
Definition:	A primary ciliary dyskinesia characterized by a subtle defect in the bend of the distal portion of the cilia, reduced ciliary clearance in-vitro, relatively mild respiratory phenotype and laterality defects in all reported patients that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH9 gene on chromosome 17p12. (2)
References:	OMIM:618300
Ontology:	Human Disease ( DOID:0111853 )

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 40 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
DNAH9	dnah9	Ciliary dyskinesia, primary, 40	618300

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None