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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:third cranial nerve disease
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Accession:DOID:562 term browser browse the term
Definition:Diseases of the oculomotor nerve or nucleus that result in weakness or paralysis of the superior rectus, inferior rectus, medial rectus, inferior oblique, or levator palpebrae muscles, or impaired parasympathetic innervation to the pupil. With a complete oculomotor palsy, the eyelid will be paralyzed, the eye will be in an abducted and inferior position, and the pupil will be markedly dilated. Commonly associated conditions include neoplasms, CRANIOCEREBRAL TRAUMA, ischemia (especially in association with DIABETES MELLITUS), and aneurysmal compression. (From Adams et al., Principles of Neurology, 6th ed, p270)
Synonyms:exact_synonym: Oculomotor Nerve Disorder;   Oculomotor Nerve Disorders;   Oculomotor Nerve Palsies;   Oculomotor Nerve Palsy;   Oculomotor Neuropathies;   Oculomotor Neuropathy;   Third Cranial Nerve Diseases;   cranial nerve III diseases;   disorder of oculomotor nerve;   oculomotor nerve disease;   third nerve palsy;   third nerve paralysis;   third-nerve palsies
 primary_id: MESH:D015840
 alt_id: RDO:0004748
 xref: NCI:C27598
For additional species annotation, visit the Alliance of Genome Resources.


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Carnitine Acetyltransferase Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crat carnitine O-acetyltransferase ISO ClinVar Annotator: match by term: CARNITINE ACETYLTRANSFERASE DEFICIENCY ClinVar PMID:31448845 NCBI chr 3:8,967,984...8,981,959
Ensembl chr 3:8,968,417...8,981,362
JBrowse link
Oculomotor Nerve Injuries term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ntrk2 neurotrophic receptor tyrosine kinase 2 IEP mRNA:increased expression:motor neuron RGD PMID:21456016 RGD:5684341 NCBI chr17:5,934,651...6,245,778
Ensembl chr17:5,933,729...6,244,676
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    sensory system disease 5238
      eye disease 2637
        ocular motility disease 132
          third cranial nerve disease 2
            Adie syndrome 0
            Carnitine Acetyltransferase Deficiency 1
            Oculomotor Nerve Injuries 1
            cranial nerve III tumor + 0
            oculomotor nerve paralysis 0
            partial third-nerve palsy 0
            total third-nerve palsy 0
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        peripheral nervous system disease 2417
          neuropathy 2229
            cranial nerve disease 414
              ocular motility disease 132
                third cranial nerve disease 2
                  Adie syndrome 0
                  Carnitine Acetyltransferase Deficiency 1
                  Oculomotor Nerve Injuries 1
                  cranial nerve III tumor + 0
                  oculomotor nerve paralysis 0
                  partial third-nerve palsy 0
                  total third-nerve palsy 0
paths to the root