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
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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
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  disease 14875
    syndrome 4220
      Stromme syndrome 1
Path 2
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  disease 14875
    Developmental Diseases 7711
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6750
        Congenital Abnormalities 3150
          Nervous System Malformations 663
            complex cortical dysplasia with other brain malformations 420
              Malformations of Cortical Development, Group I 275
                microcephaly 208
                  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.