ZFIN Human Disease: primary ciliary dyskinesia 38

OBO ID: DOID:0111852

Term Name:	primary ciliary dyskinesia 38		Search Ontology:
Synonyms:	CILD38 primary ciliary dyskinesia 38 with or without situs inversus
Definition:	A primary ciliary dyskinesia characterized by significant loss of both the inner and outer dynein arms, chronic airway disease, recurrent sinopulmonary infections, and laterality defects in about half of patients that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP300 gene on chromosome 11q22.1. (2)
References:	OMIM:618063
Ontology:	Human Disease ( DOID:0111852 )

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 38 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
CFAP300	cfap300	Ciliary dyskinesia, primary, 38	618063

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None