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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:Forney Robinson Pascoe Syndrome
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Accession:DOID:9002220 term browser browse the term
Synonyms:exact_synonym: Congenital heart disease, deafness, and skeletal malformations
 primary_id: MESH:C537269


show annotations for term's descendants           Sort by:
Forney Robinson Pascoe Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Map3k7 mitogen activated protein kinase kinase kinase 7 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:51,149,524...51,212,012
Ensembl chr 5:46,357,931...46,415,597 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19143
    syndrome 11406
      Forney Robinson Pascoe Syndrome 1
Path 2
Term Annotations click to browse term
  disease 19143
    Pathological Conditions, Signs and Symptoms 13623
      Signs and Symptoms 11219
        Neurologic Manifestations 10461
          sensory system disease 7373
            Otorhinolaryngologic Diseases 1799
              auditory system disease 1063
                Hearing Disorders 847
                  Hearing Loss 842
                    Bilateral Hearing Loss 5
                      Forney Robinson Pascoe Syndrome 1
paths to the root