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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 1
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Accession:DOID:0080395 term browser browse the term
Definition:An orofacial cleft characterized by autosomal dominant inheritance that has_material_basis_in variation in chromosome region 6p24.3. (DO)
Synonyms:exact_synonym: OFC1;   nonsyndromic cleft lip with or without cleft palate 1
 primary_id: MESH:C566121
 alt_id: OMIM:119530
 xref: NCI:C124838
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
orofacial cleft 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nectin2 nectin cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21637507 NCBI chr 1:79,372,123...79,407,379
Ensembl chr 1:79,372,119...79,407,360
JBrowse link
G Pvr PVR cell adhesion molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:21637507 NCBI chr 1:79,561,294...79,576,700
Ensembl chr 1:79,546,879...79,576,715
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    physical disorder 3103
      orofacial cleft 130
        orofacial cleft 1 2
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        Congenital Abnormalities 5603
          Musculoskeletal Abnormalities 2243
            Craniofacial Abnormalities 1964
              Maxillofacial Abnormalities 244
                Jaw Abnormalities 232
                  orofacial cleft 130
                    orofacial cleft 1 2
paths to the root