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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:Bartsocas-Papas Syndrome 2
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Accession:DOID:9006857 term browser browse the term
Definition:A severe form of popliteal pterygium disorder characterized by cutaneous webbing across one or more joints, cleft lip and/or palate, syndactyly, and genital malformations. Caused by homozygous mutation in the CHUK gene on chromosome 10q24. (OMIM)
Synonyms:exact_synonym: BPS2;   popliteal pterygium syndrome, Bartsocas-Papas type 2
 primary_id: OMIM:619339


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Bartsocas-Papas Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chuk component of inhibitor of nuclear factor kappa B kinase complex ISO ClinVar Annotator: match by term: Bartsocas-Papas syndrome 2 OMIM
ClinVar		 PMID:25691407 NCBI chr 1:242,959,539...242,995,066
Ensembl chr 1:242,959,760...242,995,065 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21126
    physical disorder 4952
      orofacial cleft 155
        cleft palate 116
          popliteal pterygium syndrome 3
            Bartsocas-Papas Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 21126
    Developmental Disease 18447
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18306
        Congenital Abnormalities 7571
          Musculoskeletal Abnormalities 3289
            Craniofacial Abnormalities 2641
              Maxillofacial Abnormalities 309
                Jaw Abnormalities 263
                  orofacial cleft 155
                    cleft lip 59
                      popliteal pterygium syndrome 3
                        Bartsocas-Papas Syndrome 2 1
paths to the root