ZFIN Human Disease: primary ciliary dyskinesia 45

OBO ID: DOID:0111857

Term Name:	primary ciliary dyskinesia 45		Search Ontology:
Synonyms:	CILD45 primary ciliary dyskinesia 45 without situs inversus
Definition:	A primary ciliary dyskinesia characterized by absence of inner dynein arms with some axonemal disorganization in airway epithelial cells, absence of both inner and outer dynein arms in sperm from infertile male patients, recurrent sinopulmonary infections, defective mucociliary clearance, and absence of laterality defects that has_material_basis_in homozygous or compound heterozygous mutation in the TTC12 gene on chromosome 11q23.2. https://www.ncbi.nlm.nih.gov/pubmed/31978331
References:	OMIM:618801
Ontology:	Human Disease ( DOID:0111857 )

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 45 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
TTC12	ttc12	Ciliary dyskinesia, primary, 45	618801

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None