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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: OFC;   OFC1;   nonsyndromic cleft lip with or without cleft palate 1;   nonsyndromic cleft lip/palate;   nonsyndromic orofacial cleft;   orofacial clefting
 primary_id: MESH:C566121
 alt_id: DOID:9000844;   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 1:80,631,449...80,666,617
Ensembl chr 1:80,631,450...80,666,585
JBrowse link
G Phyh phytanoyl-CoA 2-hydroxylase ISO ClinVar Annotator: match by term: Nonsyndromic cleft lip palate ClinVar PMID:10767344, PMID:14974078, PMID:16186124, PMID:25741868, PMID:27229527, PMID:28492532 NCBI chr17:77,287,580...77,304,482
Ensembl chr17:77,287,188...77,304,530
JBrowse link
G Pvr PVR cell adhesion molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:21637507 NCBI chr 1:80,820,306...80,835,712
Ensembl chr 1:80,820,050...80,835,701
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    physical disorder 985
      orofacial cleft 125
        orofacial cleft 1 3
Path 2
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        Congenital Abnormalities 4759
          Musculoskeletal Abnormalities 1759
            Craniofacial Abnormalities 1459
              Maxillofacial Abnormalities 239
                Jaw Abnormalities 228
                  orofacial cleft 125
                    orofacial cleft 1 3
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.