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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:Hereditary Congenital Facial Paresis 3
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Accession:DOID:9008662 term browser browse the term
Synonyms:exact_synonym: HCFP3
 primary_id: OMIM:614744
 alt_id: RDO:9000299
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
Hereditary Congenital Facial Paresis 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxb1 homeo box B1 ISO ClinVar Annotator: match by OMIM:614744
ClinVar Annotator: match by term: Hereditary congenital facial paresis 3
OMIM
ClinVar
PMID:22770981 PMID:25741868 PMID:26007620 PMID:27144914 NCBI chr10:81,331,507...81,332,928
Ensembl chr10:81,331,507...81,332,836
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17240
    Pathological Conditions, Signs and Symptoms 10254
      Anatomical Pathological Conditions 2004
        Facial Asymmetry 5
          Hereditary Congenital Facial Paresis 1
            Hereditary Congenital Facial Paresis 3 1
Path 2
Term Annotations click to browse term
  disease 17240
    disease of anatomical entity 16581
      nervous system disease 12115
        peripheral nervous system disease 2536
          neuropathy 2332
            cranial nerve disease 441
              facial nerve disease 50
                facial paralysis 6
                  Hereditary Congenital Facial Paresis 1
                    Hereditary Congenital Facial Paresis 3 1
paths to the root