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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 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:4327920 NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
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 chr14:81,279,292...81,282,960
Ensembl chr14:81,275,091...81,299,601
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 5:4,863,501...5,101,483
Ensembl chr 5:4,955,543...5,101,483
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 OMIM
ClinVar
PMID:25741868 PMID:29016863 NCBI chr18:60,943,394...60,953,031
Ensembl chr18:60,943,375...60,954,418
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 chr10:81,331,507...81,332,928
Ensembl chr10:81,331,507...81,332,836
JBrowse link
Hereditary Congenital Facial Paresis 3 term browser
Symbol Object Name 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 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
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    sensory system disease 6555
      mouth disease 837
        facial nerve disease 50
          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 18109
    disease of anatomical entity 17480
      nervous system disease 13146
        peripheral nervous system disease 2989
          neuropathy 2780
            cranial nerve disease 528
              facial nerve disease 50
                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