Stromme Syndrome
Disease ID: disease_node_14670
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| Dbxref | ICD10CM:Q87.8, MIM:243605 |
|---|---|
| Subclassof | DOID_9562 |
| Data Source | DOID |
| Synonyms | CILD31, apple peel syndrome with microcephaly and ocular anomalies, jejunal atresia with microcephaly and ocular anomalies, lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome, primary ciliary dyskinesia 31 |
| Doid Label | Stromme syndrome |
| Doid 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. |
| Disease Node Id | disease_node_14670 |
| Doid Id | DOID_0110595 |
| Label | Stromme Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Ciliary Motility Disorders(ID:disease_node_2113) (Disease)