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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:Nonsyndromic Trigonocephaly
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Accession:DOID:9007261 term browser browse the term
Synonyms:exact_synonym: metopic craniosynostosis
 primary_id: MESH:C562951
 alt_id: RDO:0012447
 xref: OMIM:PS190440
For additional species annotation, visit the Alliance of Genome Resources.


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Nonsyndromic Trigonocephaly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Nonsyndromic Trigonocephaly ClinVar NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
JBrowse link
G Frem1 Fras1 related extracellular matrix 1 ISO DNA:deletion, duplication,missense mutation:cds:
DNA:mutations:cds:
RGD PMID:21931569, PMID:21931569 RGD:11554186, RGD:11554186 NCBI chr 5:101,018,009...101,166,794
Ensembl chr 5:101,020,448...101,166,651
JBrowse link
Trigonocephaly 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Trigonocephaly 1 OMIM
ClinVar
PMID:10629055 PMID:11173846 PMID:12627230 PMID:14513299 PMID:15365636 PMID:15605412 PMID:15793702 PMID:16764984 PMID:17154279 PMID:17360555 PMID:17963255 PMID:18160472 PMID:18985070 PMID:19707180 PMID:20696889 PMID:22378383 PMID:23329143 PMID:23348397 PMID:23657145 PMID:25064402 PMID:25383892 PMID:25425165 PMID:25741868 PMID:25759380 PMID:26467025 PMID:26931467 PMID:27884173 PMID:28492532 NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
JBrowse link
Trigonocephaly 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Frem1 Fras1 related extracellular matrix 1 ISO ClinVar Annotator: match by term: Trigonocephaly 2
ClinVar Annotator: match by OMIM:614485
OMIM
ClinVar
PMID:21931569 PMID:25741868 PMID:26893459 NCBI chr 5:101,018,009...101,166,794
Ensembl chr 5:101,020,448...101,166,651
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    Developmental Diseases 9597
      bone development disease 1312
        dysostosis 337
          synostosis 227
            craniosynostosis 173
              Nonsyndromic Trigonocephaly 2
                Trigonocephaly 1 1
                Trigonocephaly 2 1
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      musculoskeletal system disease 5283
        connective tissue disease 3626
          bone disease 2987
            bone development disease 1312
              dysostosis 337
                synostosis 227
                  craniosynostosis 173
                    Nonsyndromic Trigonocephaly 2
                      Trigonocephaly 1 1
                      Trigonocephaly 2 1
paths to the root