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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
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Accession:DOID:0060285 term browser browse the term
Definition:An inherited neural tube defect that is characterized by enlarged openings in the parietal bones of the skull, has_material_basis_in mutation in the ALX4 gene or MSX2 gene. (DO)
Synonyms:exact_synonym: Caitlin marks;   Catlin marks;   Cranium Bifidum Occultum;   Cranium Bifidum, Hereditary;   Enlarged Parietal Foramina;   FPP;   PFM;   foramina parietalia permagna;   symmetric parietal foramina
 primary_id: MESH:C566826
 xref: MONDO:0018953;   OMIM:PS168500;   ORDO:60015


show annotations for term's descendants           Sort by:
parietal foramina term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alx4 ALX homeobox 4 ISO
ISS		 ClinVar Annotator: match by term: Cranium bifidum occultum
OMIM:168500 | OMIM:609566 | OMIM:609597
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD		 PMID:11137991 NCBI chr 3:79,611,682...79,648,260
Ensembl chr 3:79,611,719...79,648,260 		JBrowse link
G Msx2 msh homeobox 2 ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CRANIUM BIFIDUM, HEREDITARY | ClinVar Annotator: match by term: Cranium bifidum occultum | ClinVar Annotator: match by term: Enlarged parietal foramina | ClinVar Annotator: match by term: FORAMINA PARIETALIA PERMAGNA
OMIM:168500 | OMIM:609566 | OMIM:609597		 CTD
ClinVar
MouseDO		 PMID:7597092 PMID:8106171 PMID:8357019 PMID:8968743 PMID:9256341 More... NCBI chr17:11,097,214...11,102,879
Ensembl chr17:11,097,103...11,102,879 		JBrowse link
Parietal Foramina 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msx2 msh homeobox 2 ISO ClinVar Annotator: match by term: Parietal foramina 1 OMIM
ClinVar		 PMID:10742103 PMID:10767351 PMID:16222674 PMID:25741868 PMID:28492532 NCBI chr17:11,097,214...11,102,879
Ensembl chr17:11,097,103...11,102,879 		JBrowse link
Parietal Foramina 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alx4 ALX homeobox 4 ISO ClinVar Annotator: match by term: Parietal foramina 2
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:11106354 PMID:11137991 PMID:16319823 PMID:22829454 PMID:24764194 More... NCBI chr 3:79,611,682...79,648,260
Ensembl chr 3:79,611,719...79,648,260 		JBrowse link
Parietal Foramina with Cleidocranial Dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msx2 msh homeobox 2 ISO ClinVar Annotator: match by term: Parietal foramina with cleidocranial dysplasia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:14571277 NCBI chr17:11,097,214...11,102,879
Ensembl chr17:11,097,103...11,102,879 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    physical disorder 4965
      neural tube defect 136
        parietal foramina 2
          Parietal Foramina 1 1
          Parietal Foramina 2 1
          Parietal Foramina 3 0
          Parietal Foramina with Cleidocranial Dysplasia 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      Urogenital Diseases 5233
        Female Urogenital Diseases and Pregnancy Complications 2456
          Female Urogenital Diseases 2003
            female reproductive system disease 2000
              prolapse of female genital organ 193
                enterocele 193
                  Encephalocele 30
                    parietal foramina 2
                      Parietal Foramina 1 1
                      Parietal Foramina 2 1
                      Parietal Foramina 3 0
                      Parietal Foramina with Cleidocranial Dysplasia 1
paths to the root