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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:cleft palate-lateral synechia syndrome
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Accession:DOID:0080313 term browser browse the term
Definition:A physical disorder that is characterized by fusion of maxilla and mandible. (DO)
Synonyms:exact_synonym: CPLS Syndrome;   syngnathia
 primary_id: MESH:C563047
 alt_id: OMIM:119550;   RDO:0012495
 xref: ORDO:2016
For additional species annotation, visit the Alliance of Genome Resources.


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cleft palate-lateral synechia syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 ISS OMIM:119550 MouseDO NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    physical disorder 2526
      cleft palate-lateral synechia 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
                  cleft palate-lateral synechia syndrome 1
paths to the root