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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:facial paralysis
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Accession:DOID:13934 term browser browse the term
Definition:Severe or complete loss of facial muscle motor function. This condition may result from central or peripheral lesions. Damage to CNS motor pathways from the cerebral cortex to the facial nuclei in the pons leads to facial weakness that generally spares the forehead muscles. FACIAL NERVE DISEASES generally results in generalized hemifacial weakness. NEUROMUSCULAR JUNCTION DISEASES and MUSCULAR DISEASES may also cause facial paralysis or paresis.
Synonyms:exact_synonym: Central Facial Paralysis;   Facial Palsy;   Facial Paralyses, Peripheral;   Facial Paresis;   Hemifacial Paralysis;   Lower Motor Neuron Facial Palsy;   Paralyses, Facial;   Paralyses, Hemifacial;   Pareses, Facial;   central facial paralyses;   facial palsies;   peripheral facial paralysis;   upper motor neuron facial palsy
 primary_id: MESH:D005158
 xref: ICD10CM:G51.0;   NCI:C26769
For additional species annotation, visit the Alliance of Genome Resources.


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facial paralysis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmp9 matrix metallopeptidase 9 ISO associated with Herpes Simplex;mRNA, protein:increased expression:facial VII nucleus RGD PMID:23817985 RGD:8547852 NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:174,084,123...174,111,442 		JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:4327920 NCBI chr 6:32,659,137...32,665,175
Ensembl chr 6:32,659,346...32,665,173 		JBrowse link
Bell's palsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppia peptidylprolyl isomerase A exacerbates ISO protein:increased expression:blood serum (human) RGD PMID:32149981 RGD:150429625 NCBI chr14:85,491,223...85,496,884
Ensembl chr14:85,492,484...85,497,115 		JBrowse link
Cayler Cardiofacial Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eya1 EYA transcriptional coactivator and phosphatase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15493068 NCBI chr 5:9,646,599...9,884,609
Ensembl chr 5:9,646,591...9,884,614 		JBrowse link
Congenital Facial Palsy with Ptosis and Velopharyngeal Dysfunction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tubb6 tubulin, beta 6 class V ISO ClinVar Annotator: match by term: Facial palsy, congenital, with ptosis and velopharyngeal dysfunction | ClinVar Annotator: match by term: TUBB6-related condition OMIM
ClinVar		 PMID:25741868 PMID:29016863 PMID:39033378 NCBI chr18:63,213,287...63,222,926
Ensembl chr18:63,213,279...63,224,303 		JBrowse link
Hereditary Congenital Facial Paresis term browser
Symbol Object Name Qualifiers 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 chr10:81,827,915...81,830,404
Ensembl chr10:81,827,915...81,830,404 		JBrowse link
Hereditary Congenital Facial Paresis 3 term browser
Symbol Object Name Qualifiers 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 chr10:81,827,915...81,830,404
Ensembl chr10:81,827,915...81,830,404 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    sensory system disease 4800
      mouth disease 896
        facial nerve disease 56
          facial paralysis 6
            Aortic Arch Interruption, Facial Palsy, and Retinal Coloboma 0
            Bell's palsy 1
            Cayler Cardiofacial Syndrome 1
            Congenital Facial Palsy with Ptosis and Velopharyngeal Dysfunction 1
            Facial Palsy, Familial Recurrent Peripheral 0
            Foix-Chavany-Marie Syndrome 0
            Hereditary Congenital Facial Paresis + 1
Path 2
Term Annotations click to browse term
  disease 14566
    disease of anatomical entity 13676
      nervous system disease 8528
        peripheral nervous system disease 2242
          neuropathy 2032
            cranial nerve disease 576
              facial nerve disease 56
                facial paralysis 6
                  Aortic Arch Interruption, Facial Palsy, and Retinal Coloboma 0
                  Bell's palsy 1
                  Cayler Cardiofacial Syndrome 1
                  Congenital Facial Palsy with Ptosis and Velopharyngeal Dysfunction 1
                  Facial Palsy, Familial Recurrent Peripheral 0
                  Foix-Chavany-Marie Syndrome 0
                  Hereditary Congenital Facial Paresis + 1
paths to the root