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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
For additional species annotation, visit the Alliance of Genome Resources.



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BILATERAL CLEFT LIP term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
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 OMIM
ClinVar
PMID:8033105 PMID:24033266 PMID:25741868 PMID:25980754 PMID:26123647 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
ClinVar Annotator: match by term: Blepharocheilodontic syndrome 2
ClinVar
OMIM
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 null
ClinVar Annotator: match by term: Hartsfield syndrome
ClinVar
OMIM
PMID:15605412 PMID:16764984 PMID:19504604 PMID:23657145 PMID:23812909 More... NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17256
    syndrome 8152
      orofacial cleft 129
        cleft lip 57
          BILATERAL CLEFT LIP 4
            Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate 1
            blepharocheilodontic syndrome + 2
Path 2
Term Annotations click to browse term
  disease 17256
    Developmental Disease 10968
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9504
        Congenital Abnormalities 5599
          Musculoskeletal Abnormalities 2240
            Craniofacial Abnormalities 1961
              Maxillofacial Abnormalities 243
                Jaw Abnormalities 231
                  orofacial cleft 129
                    cleft lip 57
                      BILATERAL CLEFT LIP 4
                        Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate 1
                        blepharocheilodontic syndrome + 2
paths to the root