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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:Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies
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Accession:DOID:9000725 term browser browse the term
Synonyms:exact_synonym: CYP26B1-RELATED CONDITION;   Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies;   RHFCA
 xref: MIM:614416


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Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp26b1 cytochrome P450, family 26, subfamily b, polypeptide 1 ISO ClinVar Annotator: match by term: CYP26B1-related condition | ClinVar Annotator: match by term: Radiohumeral fusions with other skeletal and craniofacial anomalies OMIM
ClinVar		 PMID:22019272 PMID:25741868 PMID:28492532 NCBI chr 4:118,599,356...118,616,176
Ensembl chr 4:118,599,356...118,616,176 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19150
    disease of anatomical entity 18459
      musculoskeletal system disease 8480
        Musculoskeletal Abnormalities 3461
          Craniofacial Abnormalities 2782
            Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies 1
Path 2
Term Annotations click to browse term
  disease 19150
    Developmental Disease 14695
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13757
        Congenital Abnormalities 7974
          Musculoskeletal Abnormalities 3461
            Congenital Limb Deformities 1071
              Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies 1
paths to the root