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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


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Hereditary Congenital Facial Paresis 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HOXB1 homeobox B1 ISO ClinVar Annotator: match by term: Facial paresis, hereditary congenital, 3 OMIM
ClinVar		 PMID:22770981 PMID:25741868 PMID:26007620 PMID:26467025 PMID:27144914 More... NCBI chr12:24,784,953...24,786,377
Ensembl chr12:24,784,594...24,786,576 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17415
    Pathological Conditions, Signs and Symptoms 11801
      Anatomical Pathological Conditions 2452
        Facial Asymmetry 8
          Hereditary Congenital Facial Paresis 1
            Hereditary Congenital Facial Paresis 3 1
Path 2
Term Annotations click to browse term
  disease 17415
    disease of anatomical entity 14875
      nervous system disease 12962
        peripheral nervous system disease 3991
          neuropathy 3800
            cranial nerve disease 666
              facial nerve disease 54
                facial paralysis 6
                  Hereditary Congenital Facial Paresis 1
                    Hereditary Congenital Facial Paresis 3 1
paths to the root