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Disease Ontology Browser
Stromme syndrome (DOID:0110595)
Alliance: disease page
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
Alt IDs: OMIM:243605, ICD10CM:Q87.8
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
04/09/2024
MGI 6.23 		The Jackson Laboratory