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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:Seckel syndrome 4
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Accession:DOID:0070010 term browser browse the term
Definition:A Seckel syndrome that has_material_basis_in homozygous mutation in the CENPJ gene on chromosome 13q12. (DO)
Synonyms:exact_synonym: SCKL4
 broad_synonym: CENPJ-RELATED DISORDER
 primary_id: OMIM:613676
 alt_id: RDO:0009938
For additional species annotation, visit the Alliance of Genome Resources.


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Seckel syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cenpj centromere protein J ISO ClinVar Annotator: match by term: Seckel syndrome 4
DNA:deletion:splice junction:c.3302-1G >C (IVS11-1G>C)(human)
ClinVar Annotator: match by OMIM:613676
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:18414213, PMID:20522431, PMID:20978018, PMID:24033266, PMID:24402816, PMID:25741868, PMID:26467025, PMID:26752647, PMID:28492532, PMID:30311386, PMID:20522431, PMID:23166506 RGD:11541118, RGD:11541114 NCBI chr15:36,745,672...36,809,228
Ensembl chr15:36,746,088...36,798,814
JBrowse link
G Rnf17 ring finger protein 17 ISO ClinVar Annotator: match by term: Seckel syndrome 4 ClinVar PMID:18414213, PMID:20522431, PMID:24402816, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr15:36,609,348...36,744,750
Ensembl chr15:36,609,296...36,744,762
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      Seckel syndrome 11
        Seckel syndrome 4 2
Path 2
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        genetic disease 7860
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal dominant disease 3029
                complex cortical dysplasia with other brain malformations 743
                  Malformations of Cortical Development, Group I 597
                    microcephaly 433
                      Seckel syndrome 4 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.