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ONTOLOGY REPORT - ANNOTATIONS


Term:Stromme syndrome
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Accession:DOID:0110595 term browser browse the term
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. (DO)
Synonyms:exact_synonym: Apple Peel Syndrome with Microcephaly and Ocular Anomalies;   CILD31;   STROMS;   jejunal atresia with microcephaly and ocular anomalies;   lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome;   primary ciliary dyskinesia 31
 primary_id: MESH:C565460
 alt_id: OMIM:243605;   RDO:0014088
For additional species annotation, visit the Alliance of Genome Resources.


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Stromme syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cenpf centromere protein F JBrowse link 13 108,132,499 108,178,609 RGD:8554872
RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 15602
    syndrome 5231
      Stromme syndrome 1
Path 2
Term Annotations click to browse term
  disease 15602
    Developmental Diseases 8837
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7627
        genetic disease 7068
          monogenic disease 4712
            autosomal genetic disease 3674
              autosomal dominant disease 2170
                complex cortical dysplasia with other brain malformations 493
                  Malformations of Cortical Development, Group I 348
                    microcephaly 218
                      Stromme syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.