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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:Craniosynostosis 6
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Accession:DOID:9003835 term browser browse the term
Definition:A primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability. (OMIM)
Synonyms:exact_synonym: CRS6
 primary_id: OMIM:616602
For additional species annotation, visit the Alliance of Genome Resources.


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Craniosynostosis 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zic1 Zic family member 1 ISO ClinVar Annotator: match by term: Craniosynostosis 6 OMIM
ClinVar
PMID:25741868 PMID:26340333 NCBI chr 8:98,733,715...98,738,960
Ensembl chr 8:98,734,295...98,738,446
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16158
    Developmental Disease 9628
      bone development disease 1325
        dysostosis 340
          synostosis 228
            craniosynostosis 173
              Craniosynostosis 6 1
Path 2
Term Annotations click to browse term
  disease 16158
    disease of anatomical entity 15408
      musculoskeletal system disease 5294
        connective tissue disease 3641
          bone disease 2998
            bone development disease 1325
              dysostosis 340
                synostosis 228
                  craniosynostosis 173
                    Craniosynostosis 6 1
paths to the root