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DOID:0110628 - primary ciliary dyskinesia 24
Disease Ontology Definition:A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with sinopulmonary infection and subfertility and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH1 gene on chromosome 21q22.
Synonyms: CILD24, primary ciliary dyskinesia 24 without situs inversus
Echinobase Genes
:
rsph1
| MIM:615481 - ciliary dyskinesia, primary, 24; cild24 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
primary ciliary dyskinesia (is_a)