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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 Palsies;   Facial Palsy;   Facial Paralyses, Peripheral;   Facial Paresis;   Hemifacial Paralysis;   Lower Motor Neuron Facial Palsy;   Paralyses, Facial;   Paralyses, Hemifacial;   Pareses, Facial;   Peripheral Facial Paralysis;   central facial paralyses;   upper motor neuron facial palsy
 primary_id: MESH:D005158
 alt_id: RDO:0000420
 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 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 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:4327920 NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
JBrowse link
Cayler Cardiofacial Syndrome term browser
Symbol Object Name 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 5:4,275,728...4,495,525
Ensembl chr 5:4,373,626...4,513,142
JBrowse link
FACIAL PALSY, CONGENITAL, WITH PTOSIS AND VELOPHARYNGEAL DYSFUNCTION term browser
Symbol Object Name 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
OMIM
PMID:29016863 NCBI chr18:63,130,542...63,140,181
Ensembl chr18:63,130,542...63,140,181
JBrowse link
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 chr10:84,214,358...84,215,812
Ensembl chr10:84,214,358...84,215,687
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 OMIM:614744
ClinVar Annotator: match by term: Hereditary congenital facial paresis 3
OMIM
ClinVar
PMID:22770981 PMID:25741868 PMID:26007620 PMID:27144914 NCBI chr10:84,214,358...84,215,812
Ensembl chr10:84,214,358...84,215,687
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17014
    sensory system disease 5443
      mouth disease 770
        facial nerve disease 49
          facial paralysis 5
            Aortic Arch Interruption, Facial Palsy, and Retinal Coloboma 0
            Bell's palsy 0
            Cayler Cardiofacial Syndrome 1
            FACIAL PALSY, CONGENITAL, 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 17014
    disease of anatomical entity 16363
      nervous system disease 11947
        peripheral nervous system disease 2461
          neuropathy 2260
            cranial nerve disease 418
              facial nerve disease 49
                facial paralysis 5
                  Aortic Arch Interruption, Facial Palsy, and Retinal Coloboma 0
                  Bell's palsy 0
                  Cayler Cardiofacial Syndrome 1
                  FACIAL PALSY, CONGENITAL, 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