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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
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Accession:DOID:9001799 term browser browse the term
Synonyms:exact_synonym: Congenital Facial Palsy, Unilateral or Bilateral
 primary_id: MESH:C536386
 alt_id: MESH:C563309;   RDO:0001953;   RDO:0012605
 xref: MIM:PS601471


show annotations for term's descendants           Sort by:
Hereditary Congenital Facial Paresis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxb1 homeo box B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24239177 NCBI chr10:81,331,507...81,332,928
Ensembl chr10:81,331,507...81,332,836 		JBrowse link
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 term: Facial paresis, hereditary congenital, 3 | ClinVar Annotator: match by term: HOXB1-related condition OMIM
ClinVar		 PMID:22770981 PMID:25741868 PMID:26007620 PMID:26467025 PMID:27144914 More... NCBI chr10:81,331,507...81,332,928
Ensembl chr10:81,331,507...81,332,836 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    Pathological Conditions, Signs and Symptoms 13622
      Anatomical Pathological Conditions 2866
        Facial Asymmetry 8
          Hereditary Congenital Facial Paresis 1
            Hereditary Congenital Facial Paresis 1 0
            Hereditary Congenital Facial Paresis 2 0
            Hereditary Congenital Facial Paresis 3 1
Path 2
Term Annotations click to browse term
  disease 19134
    disease of anatomical entity 18447
      nervous system disease 14355
        peripheral nervous system disease 4382
          neuropathy 4169
            cranial nerve disease 822
              facial nerve disease 57
                facial paralysis 6
                  Hereditary Congenital Facial Paresis 1
                    Hereditary Congenital Facial Paresis 1 0
                    Hereditary Congenital Facial Paresis 2 0
                    Hereditary Congenital Facial Paresis 3 1
paths to the root