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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:BILATERAL CLEFT LIP
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Accession:DOID:9004934 term browser browse the term
Definition:A non-midline cleft of the upper lip on the left and right side.
Synonyms:exact_synonym: Bilateral cheiloschisis;   Both sided cleft lip;   Right and left cleft lip


show annotations for term's descendants           Sort by:
BILATERAL CLEFT LIP term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxc13 homeobox C13 ISO Ectodermal dysplasia-9 OMIA PMID:28011715 NCBI chr 7:134,058,640...134,065,479
Ensembl chr 7:134,058,640...134,064,800 		JBrowse link
G Plekha5 pleckstrin homology domain containing A5 ISO ClinVar Annotator: match by term: Bilateral cleft lip ClinVar PMID:25741868 NCBI chr 4:173,333,891...173,503,546
Ensembl chr 4:173,334,055...173,503,546 		JBrowse link
G Sox3 SRY-box transcription factor 3 ISO ClinVar Annotator: match by term: Bilateral cleft lip ClinVar PMID:23757202 PMID:25741868 PMID:28492532 NCBI chr  X:139,308,608...139,310,687
Ensembl chr  X:139,309,329...139,310,678 		JBrowse link
G Tmco1 transmembrane and coiled-coil domains 1 ISO ClinVar Annotator: match by term: Bilateral cleft lip ClinVar PMID:25741868 PMID:30755392 PMID:31102500 PMID:32214227 NCBI chr13:79,460,229...79,483,557
Ensembl chr13:79,460,135...79,483,555 		JBrowse link
blepharocheilodontic syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh1 cadherin 1 ISO ClinVar Annotator: match by term: Blepharocheilodontic syndrome 1 ClinVar
OMIM		 PMID:2449335 PMID:8075649 PMID:9537325 PMID:9744472 PMID:11305955 More... NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775 		JBrowse link
blepharocheilodontic syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctnnd1 catenin delta 1 ISO ClinVar Annotator: match by term: Blepharocheilodontic syndrome 2 OMIM
ClinVar		 PMID:25741868 PMID:28301459 PMID:29805042 NCBI chr 3:69,683,328...69,734,550
Ensembl chr 3:69,683,313...69,734,516 		JBrowse link
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Hartsfield syndrome | ClinVar Annotator: match by term: Holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate OMIM
ClinVar		 PMID:11173846 PMID:14513299 PMID:15605412 PMID:15793702 PMID:16757108 More... NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      orofacial cleft 155
        cleft lip 59
          BILATERAL CLEFT LIP 7
            Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate 1
            blepharocheilodontic syndrome + 2
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        Congenital Abnormalities 7583
          Musculoskeletal Abnormalities 3302
            Craniofacial Abnormalities 2657
              Maxillofacial Abnormalities 309
                Jaw Abnormalities 263
                  orofacial cleft 155
                    cleft lip 59
                      BILATERAL CLEFT LIP 7
                        Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate 1
                        blepharocheilodontic syndrome + 2
paths to the root