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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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: CILD31;   STROMS;   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
 primary_id: MESH:C565460
 alt_id: OMIM:243605
 xref: EFO:0009160


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Stromme syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cenpf centromere protein F ISO ClinVar Annotator: match by term: Stromme syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8261651 PMID:25564561 PMID:25741868 PMID:25741878 PMID:26820108 More... NCBI chr 1:189,372,803...189,420,302
Ensembl chr 1:189,372,803...189,420,283 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18300
    syndrome 10334
      Stromme syndrome 1
Path 2
Term Annotations click to browse term
  disease 18300
    Developmental Disease 17910
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17780
        genetic disease 17754
          monogenic disease 10359
            autosomal genetic disease 9532
              autosomal dominant disease 6265
                complex cortical dysplasia with other brain malformations 1600
                  Malformations of Cortical Development, Group I 1382
                    microcephaly 1131
                      Stromme syndrome 1
paths to the root