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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: RHFCA
 primary_id: OMIM:614416;   RDO:9000664
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM:614416
ClinVar Annotator: match by term: Radiohumeral fusions with other skeletal and craniofacial anomalies
OMIM
ClinVar
PMID:22019272 PMID:25741868 NCBI chr 4:116,261,796...116,278,615
Ensembl chr 4:116,261,796...116,278,615
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    disease of anatomical entity 16303
      musculoskeletal system disease 6245
        Musculoskeletal Abnormalities 2135
          Craniofacial Abnormalities 1858
            Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies 1
Path 2
Term Annotations click to browse term
  disease 16937
    Developmental Disease 10589
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8895
        Congenital Abnormalities 5194
          Musculoskeletal Abnormalities 2135
            Congenital Limb Deformities 453
              Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies 1
paths to the root