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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:orofacial cleft 7
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Accession:DOID:0080400 term browser browse the term
Definition:An orofacial cleft that has_material_basis_in by homozygous mutation in the PVRL1 gene on chromosome 11q23. (DO)
Synonyms:primary_id: MESH:C563464
 alt_id: DOID:9002828
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
orofacial cleft 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nectin1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by null ClinVar PMID:10932188 PMID:11559849 NCBI chr 8:48,094,233...48,198,499
Ensembl chr 8:48,094,673...48,157,305
JBrowse link
cleft lip-palate-ectodermal dysplasia syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nectin1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Cleft lip/palate-ectodermal dysplasia syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:225060
OMIM
ClinVar
CTD
PMID:3035184 PMID:10932188 PMID:11559849 PMID:11756979 PMID:12893758 PMID:16195396 PMID:16674562 PMID:17089422 PMID:18223281 PMID:19132250 PMID:19715471 PMID:23560673 PMID:24560896 PMID:28492532 NCBI chr 8:48,094,233...48,198,499
Ensembl chr 8:48,094,673...48,157,305
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    physical disorder 2526
      orofacial cleft 132
        orofacial cleft 7 1
          cleft lip-palate-ectodermal dysplasia syndrome 1
Path 2
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        Congenital Abnormalities 4795
          Musculoskeletal Abnormalities 1781
            Craniofacial Abnormalities 1480
              Maxillofacial Abnormalities 250
                Jaw Abnormalities 238
                  orofacial cleft 132
                    orofacial cleft 7 1
                      cleft lip-palate-ectodermal dysplasia syndrome 1
paths to the root