ZFIN Human Disease: primary ciliary dyskinesia 42

OBO ID: DOID:0111855

Term Name:	primary ciliary dyskinesia 42		Search Ontology:
Synonyms:	CILD42 primary ciliary dyskinesia 42 without situs inversus
Definition:	A primary ciliary dyskinesia characterized by severe reduction or absence of multiple motile cilia in respiratory epithelia, onset of respiratory insufficiency soon after birth, recurrent upper and lower respiratory infections, and absence of laterality defects that has_material_basis_in homozygous or compound heterozygous mutation in the MCIDAS gene on chromosome 5q11.2. https://www.ncbi.nlm.nih.gov/pubmed/25048963
References:	OMIM:618695
Ontology:	Human Disease ( DOID:0111855 )

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 42 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
MCIDAS	mcidas	Ciliary dyskinesia, primary, 42	618695

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None