Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.


show annotations for term's descendants           Sort by:
 
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: Ciliary dyskinesia, primary, 31
ClinVar Annotator: match by OMIM:243605
ClinVar Annotator: match by term: Stromme syndrome
ClinVar
OMIM
PMID:8261651 PMID:25564561 PMID:25741868 PMID:26820108 PMID:28407396 NCBI chr13:108,132,499...108,178,609
Ensembl chr13:108,132,499...108,178,609
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      Stromme syndrome 1
Path 2
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          monogenic disease 5748
            autosomal genetic disease 4766
              autosomal dominant disease 3058
                complex cortical dysplasia with other brain malformations 754
                  Malformations of Cortical Development, Group I 608
                    microcephaly 444
                      Stromme syndrome 1
paths to the root