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Parietal Foramina with Cleidocranial Dysplasia - Ontology Report - Rat Genome Database

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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:Parietal Foramina with Cleidocranial Dysplasia
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Accession:DOID:9005263 term browser browse the term
Synonyms:exact_synonym: PFMCCD
 primary_id: MESH:C566825
 alt_id: MIM:168550

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Parietal Foramina with Cleidocranial Dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Msx2 msh homeobox 2 ISO ClinVar Annotator: match by term: Parietal foramina with cleidocranial dysplasia OMIM
ClinVar		 PMID:14571277 NCBI chrNW_004624733:15,288,417...15,294,481
Ensembl chrNW_004624733:15,288,326...15,294,568 		JBrowse link
G G MSX2 msh homeobox 2 ISO ClinVar Annotator: match by term: Parietal foramina with cleidocranial dysplasia OMIM
ClinVar		 PMID:14571277 NCBI chr23:76,873,499...76,879,935
Ensembl chr23:76,873,669...76,879,553 		JBrowse link
G P MSX2 msh homeobox 2 ISO ClinVar Annotator: match by term: Parietal foramina with cleidocranial dysplasia OMIM
ClinVar		 PMID:14571277 NCBI chr16:49,765,587...49,771,745
Ensembl chr16:49,765,910...49,771,789 		JBrowse link
G S Msx2 msh homeobox 2 ISO ClinVar Annotator: match by term: Parietal foramina with cleidocranial dysplasia OMIM
ClinVar		 PMID:14571277 NCBI chrNW_004936609:1,216,436...1,221,528
Ensembl chrNW_004936609:1,216,436...1,221,561 		JBrowse link
G D MSX2 msh homeobox 2 ISO ClinVar Annotator: match by term: Parietal foramina with cleidocranial dysplasia OMIM
ClinVar		 PMID:14571277 NCBI chr 4:38,002,724...38,007,407
Ensembl chr 4:38,002,428...38,007,407 		JBrowse link
G B MSX2 msh homeobox 2 ISO ClinVar Annotator: match by term: Parietal foramina with cleidocranial dysplasia OMIM
ClinVar		 PMID:14571277 NCBI chr 5:170,063,137...170,070,226
Ensembl chr 5:176,967,902...176,976,609 		JBrowse link
G C Msx2 msh homeobox 2 ISO ClinVar Annotator: match by term: Parietal foramina with cleidocranial dysplasia OMIM
ClinVar		 PMID:14571277 NCBI chrNW_004955408:27,323,405...27,329,484
Ensembl chrNW_004955408:27,323,360...27,329,755 		JBrowse link
G R Msx2 msh homeobox 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Parietal foramina with cleidocranial dysplasia		 OMIM
CTD
ClinVar		 PMID:14571277 NCBI chr17:11,102,284...11,107,949
Ensembl chr17:11,097,103...11,102,879 		JBrowse link
G M Msx2 msh homeobox 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Parietal foramina with cleidocranial dysplasia		 OMIM
CTD
ClinVar		 PMID:14571277 NCBI chr13:53,620,917...53,626,816
Ensembl chr13:53,620,920...53,627,110 		JBrowse link
G H MSX2 msh homeobox 2 IAGP
EXP		 ClinVar Annotator: match by term: Parietal foramina with cleidocranial dysplasia
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:14571277 NCBI chr 5:174,724,582...174,730,896
Ensembl chr 5:174,724,582...174,730,896 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    physical disorder 54044
      neural tube defect 1328
        parietal foramina 20
          Parietal Foramina with Cleidocranial Dysplasia 10
Path 2
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      Urogenital Diseases 59340
        Female Urogenital Diseases and Pregnancy Complications 28938
          Female Urogenital Diseases 23889
            female reproductive system disease 23859
              prolapse of female genital organ 1975
                enterocele 1975
                  Encephalocele 299
                    parietal foramina 20
                      Parietal Foramina with Cleidocranial Dysplasia 10
paths to the root