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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 nerve disease
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Accession:DOID:1756 term browser browse the term
Definition:Diseases of the facial nerve or nuclei. Pontine disorders may affect the facial nuclei or nerve fascicle. The nerve may be involved intracranially, along its course through the petrous portion of the temporal bone, or along its extracranial course. Clinical manifestations include facial muscle weakness, loss of taste from the anterior tongue, hyperacusis, and decreased lacrimation.
Synonyms:exact_synonym: Acquired Facial Neuropathy;   Cranial Nerve VII Diseases;   Cranial Nerve VII Disorders;   Facial Myokymia;   Facial Myokymias;   Facial Nerve Disorder;   Facial Nerve Disorders;   Facial Nerve Motor Disorders;   Facial Nerve Sensory Disorders;   Facial Neuritides;   Facial Neuritis;   Facial Neuropathies;   Facial Neuropathy;   Familial Facial Neuropathies;   Familial Facial Neuropathy;   acquired facial neuropathies;   facial nerve diseases;   seventh cranial nerve diseases
 primary_id: MESH:D005155
 alt_id: RDO:0005560
 xref: ICD10CM:G51;   ICD9CM:351;   NCI:C27594
For additional species annotation, visit the Alliance of Genome Resources.



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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
Carey-Fineman-Ziter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mymk myomaker, myoblast fusion factor ISO ClinVar Annotator: match by term: Congenital nonprogressive myopathy with Moebius and Robin sequences ClinVar
OMIM
PMID:7131178 PMID:25741868 PMID:28681861 PMID:29560417 PMID:30016436 More... NCBI chr 3:10,388,361...10,397,364
Ensembl chr 3:10,388,361...10,397,343
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
Facial Nerve Injuries term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adcyap1 adenylate cyclase activating polypeptide 1 IEP mRNA:increased expression:facial VII nucleus RGD PMID:19427307 RGD:2325258 NCBI chr 9:113,102,632...113,122,500
Ensembl chr 9:113,103,718...113,109,773
JBrowse link
G Atf2 activating transcription factor 2 IEP RGD PMID:9813301 RGD:10047413 NCBI chr 3:58,718,323...58,795,280
Ensembl chr 3:58,718,332...58,795,236
JBrowse link
G Ccr3 C-C motif chemokine receptor 3 ISO RGD PMID:19922414 RGD:6892922 NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990
JBrowse link
G Cd59 CD59 molecule IEP mRNA, protein:increased expression:facial VII nucleus RGD PMID:9846834 RGD:1600495 NCBI chr 3:90,459,085...90,477,571
Ensembl chr 3:90,459,162...90,478,847
JBrowse link
G Csf1 colony stimulating factor 1 IEP protein:increased expression:facial VII nerve, microglial cell RGD PMID:20831658 RGD:5131509 NCBI chr 2:195,377,215...195,396,608
Ensembl chr 2:195,377,215...195,411,704
JBrowse link
G Ctss cathepsin S ISO RGD PMID:17539023 RGD:5686912 NCBI chr 2:183,089,192...183,114,483
Ensembl chr 2:183,086,437...183,114,483
JBrowse link
G Gfra1 GDNF family receptor alpha 1 IEP mRNA:increased expression:facial VII nucleus RGD PMID:9582449 RGD:6218984 NCBI chr 1:257,315,682...257,552,004
Ensembl chr 1:257,321,742...257,551,473
JBrowse link
G Hgf hepatocyte growth factor treatment IDA RGD PMID:21562589 RGD:8548634 NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
JBrowse link
G Mt3 metallothionein 3 treatment IDA RGD PMID:14625437 RGD:9685806 NCBI chr19:10,848,754...10,850,158
Ensembl chr19:10,848,755...10,850,158
JBrowse link
G Ndufa5 NADH:ubiquinone oxidoreductase subunit A5 IEP mRNA:increased expression:skeletal muscle RGD PMID:8875451 RGD:2302319 NCBI chr 4:52,997,327...53,005,685
Ensembl chr 4:52,995,546...53,005,598
JBrowse link
G Ret ret proto-oncogene IEP mRNA:increased expression:facial VII nucleus RGD PMID:9582449 RGD:6218984 NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
JBrowse link
FACIAL PALSY, CONGENITAL, 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
OMIM
PMID:29016863 NCBI chr18:60,943,394...60,953,031
Ensembl chr18:60,943,375...60,954,418
JBrowse link
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
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 OMIM:614744
ClinVar Annotator: match by term: Hereditary congenital facial paresis 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
Mobius syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts8 ADAM metallopeptidase with thrombospondin type 1 motif, 8 ISO ClinVar Annotator: match by term: Mobius Syndrome ClinVar NCBI chr 8:29,349,078...29,368,413
Ensembl chr 8:29,349,114...29,368,404
JBrowse link
G Amh anti-Mullerian hormone ISO ClinVar Annotator: match by term: Mobius Syndrome ClinVar PMID:25741868 NCBI chr 7:8,906,776...8,909,184
Ensembl chr 7:8,906,836...8,909,282
JBrowse link
G Bcdin3d BCDIN3 domain containing RNA methyltransferase ISO ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum ClinVar PMID:28492532 NCBI chr 7:130,605,540...130,610,134
Ensembl chr 7:130,605,541...130,610,115
JBrowse link
G Cdh11 cadherin 11 ISO ClinVar Annotator: match by term: Mobius Syndrome ClinVar NCBI chr19:2,148,447...2,305,754
Ensembl chr19:2,148,458...2,304,272
JBrowse link
G Ebf3 EBF transcription factor 3 ISO ClinVar Annotator: match by term: Mobius Syndrome ClinVar NCBI chr 1:191,996,726...192,114,713
Ensembl chr 1:191,996,730...192,114,359
JBrowse link
G Garin4 golgi associated RAB2 interactor family member 4 ISO ClinVar Annotator: match by term: Mobius Syndrome ClinVar NCBI chr13:102,742,988...102,745,168
Ensembl chr13:102,742,988...102,745,168
JBrowse link
G Hecw2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Mobius Syndrome ClinVar NCBI chr 9:55,359,462...55,753,106
Ensembl chr 9:55,365,203...55,580,327
JBrowse link
G Hspb7 heat shock protein family B (small) member 7 ISO ClinVar Annotator: match by term: Mobius Syndrome ClinVar NCBI chr 5:153,727,782...153,731,268
Ensembl chr 5:153,727,588...153,731,266
JBrowse link
G Ints6l integrator complex subunit 6 like ISO ClinVar Annotator: match by term: Mobius Syndrome ClinVar NCBI chr  X:134,258,117...134,325,706
Ensembl chr  X:134,258,125...134,309,617
JBrowse link
G Kbtbd7 kelch repeat and BTB domain containing 7 ISO ClinVar Annotator: match by term: Mobius Syndrome ClinVar NCBI chr15:54,806,878...54,811,457
Ensembl chr15:54,806,873...54,811,687
JBrowse link
G Mrpl28 mitochondrial ribosomal protein L28 ISO ClinVar Annotator: match by term: Mobius Syndrome ClinVar NCBI chr10:15,148,670...15,151,581
Ensembl chr10:15,148,681...15,151,581
JBrowse link
G Plcb2 phospholipase C, beta 2 ISO ClinVar Annotator: match by term: Mobius Syndrome ClinVar NCBI chr 3:105,683,676...105,704,384
Ensembl chr 3:105,684,815...105,704,302
JBrowse link
G Ptch2 patched 2 ISO ClinVar Annotator: match by term: Mobius Syndrome ClinVar NCBI chr 5:130,571,956...130,592,506
Ensembl chr 5:130,572,312...130,592,405
JBrowse link
G Sim1 SIM bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum ClinVar PMID:2152513 PMID:23778139 PMID:25234154 PMID:25741868 PMID:28492532 NCBI chr20:53,827,601...53,907,219
Ensembl chr20:53,828,364...53,907,212
JBrowse link
G Zfp787 zinc finger protein 787 ISO ClinVar Annotator: match by term: Mobius Syndrome ClinVar NCBI chr 1:67,745,702...67,771,132
Ensembl chr 1:67,758,757...67,771,132
JBrowse link
Trigeminal Nerve Injuries term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp53 tumor protein p53 IEP RGD PMID:22977862 RGD:8547771 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
trigeminal neuralgia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aif1 allograft inflammatory factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27093858 NCBI chr20:3,646,784...3,652,670
Ensembl chr20:3,646,777...3,652,668
JBrowse link
G Calca calcitonin-related polypeptide alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:27093858 NCBI chr 1:168,878,212...168,883,176
Ensembl chr 1:168,878,214...168,883,105
JBrowse link
G Cdk5 cyclin-dependent kinase 5 IDA RGD PMID:21161138 RGD:13782378 NCBI chr 4:10,754,682...10,760,110
Ensembl chr 4:10,754,687...10,760,112
JBrowse link
G Cdk5r1 cyclin-dependent kinase 5 regulatory subunit 1 IEP RGD PMID:21161138 RGD:13782378 NCBI chr10:65,484,266...65,485,467
Ensembl chr10:65,483,941...65,488,456
JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:27093858 NCBI chr 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036
JBrowse link
G Gabrg1 gamma-aminobutyric acid type A receptor subunit gamma 1 ISS OMIM:190400 MouseDO NCBI chr14:37,396,217...37,469,606
Ensembl chr14:37,396,294...37,635,956
JBrowse link
G Gfap glial fibrillary acidic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:27093858 NCBI chr10:87,852,891...87,861,631
Ensembl chr10:87,852,890...87,861,589
JBrowse link
G Grin1 glutamate ionotropic receptor NMDA type subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27093858 NCBI chr 3:8,103,680...8,130,603
Ensembl chr 3:8,103,680...8,130,603
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:27093858 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Mapk1 mitogen activated protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27093858 NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616
JBrowse link
G Mapk3 mitogen activated protein kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27093858 NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863
JBrowse link
G Mapk8 mitogen-activated protein kinase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27093858 NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
JBrowse link
G Mapk9 mitogen-activated protein kinase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27093858 NCBI chr10:34,169,661...34,211,138
Ensembl chr10:34,169,675...34,210,178
JBrowse link
G Mir125a microRNA 125a IEP RNA:decreased expression: trigeminal ganglion: RGD PMID:25380251 RGD:26884456 NCBI chr 1:58,677,626...58,677,710
Ensembl chr 1:58,677,626...58,677,710
JBrowse link
G Prkcg protein kinase C, gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:27093858 NCBI chr 1:65,832,851...65,860,676
Ensembl chr 1:65,832,855...65,859,384
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27093858 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17435
    sensory system disease 5712
      mouth disease 805
        facial nerve disease 50
          Bell's palsy 1
          Conductive Stapedial Deafness with Ear Malformation and Facial Palsy 0
          Facial Nerve Injuries 11
          Melkersson-Rosenthal syndrome 0
          Mobius syndrome + 16
          facial hemiatrophy 0
          facial neuralgia + 17
          facial paralysis + 6
          geniculate ganglionitis 0
          herpes zoster oticus 0
Path 2
Term Annotations click to browse term
  disease 17435
    disease of anatomical entity 16766
      nervous system disease 12209
        peripheral nervous system disease 2581
          neuropathy 2374
            cranial nerve disease 485
              facial nerve disease 50
                Bell's palsy 1
                Conductive Stapedial Deafness with Ear Malformation and Facial Palsy 0
                Facial Nerve Injuries 11
                Melkersson-Rosenthal syndrome 0
                Mobius syndrome + 16
                facial hemiatrophy 0
                facial neuralgia + 17
                facial paralysis + 6
                geniculate ganglionitis 0
                herpes zoster oticus 0
paths to the root