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DO Term : Stromme syndrome [DOID:0110595] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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:
  • 243605,
  • jejunal atresia with microcephaly and ocular anomalies,
  • lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome,
  • CILD31,
  • ICD10CM:Q87.8,
  • primary ciliary dyskinesia 31,
  • apple peel syndrome with microcephaly and ocular anomalies,
  • OMIM:243605
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Disease

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Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents