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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:Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development
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Accession:DOID:9001596 term browser browse the term
Synonyms:exact_synonym: ACCIID
 broad_synonym: PPP3CA-RELATED CONDITION
 primary_id: OMIM:618265

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Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppp3ca protein phosphatase 3 catalytic subunit alpha ISO ClinVar Annotator: match by term: Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development | ClinVar Annotator: match by term: PPP3CA-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29432562 PMID:30904718 PMID:33963760 NCBI chrNW_004936520:1,987,989...2,146,473
Ensembl chrNW_004936520:1,987,045...2,146,540 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    physical disorder 4666
      arthrogryposis multiplex congenita 233
        Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development 1
Path 2
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 16324
        Congenital Abnormalities 7061
          Musculoskeletal Abnormalities 3133
            Craniofacial Abnormalities 2528
              Maxillofacial Abnormalities 301
                Jaw Abnormalities 257
                  orofacial cleft 149
                    cleft palate 113
                      Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development 1
paths to the root