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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;   RDO:0003076
For additional species annotation, visit the Alliance of Genome Resources.


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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 5:46,356,973...46,415,597
Ensembl chr 5:46,357,931...46,415,597
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    syndrome 8126
      Forney Robinson Pascoe Syndrome 1
Path 2
Term Annotations click to browse term
  disease 17207
    disease of anatomical entity 16553
      nervous system disease 12101
        sensory system disease 5611
          Otorhinolaryngologic Diseases 1342
            auditory system disease 909
              Hearing Disorders 739
                Hearing Loss 735
                  Bilateral Hearing Loss 5
                    Forney Robinson Pascoe Syndrome 1
paths to the root