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DOID:0110595 - Stromme syndrome
Disease Ontology Definition:A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance and ciliopathy with some type of intestinal atresia, variable ocular abnormalities, microcephaly, and has_material_basis_in compound heterozygous mutation in the CENPF gene on chromosome 1q41.
Synonyms: apple peel syndrome with microcephaly and ocular anomalies, CILD31, jejunal atresia with microcephaly and ocular anomalies, lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome, primary ciliary dyskinesia 31
Xenbase Genes
:
cenpf
| MONDO:0009477 - associated mesenchyme of otic placode |
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)