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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 Palsies;   Oculomotor Nerve Palsy;   Oculomotor Neuropathies;   Oculomotor Neuropathy;   cranial nerve III diseases;   disorder of oculomotor nerve;   oculomotor nerve disease;   oculomotor nerve disorders;   third cranial nerve diseases;   third nerve palsy;   third nerve paralysis;   third-nerve palsies
 primary_id: MESH:D015840
 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:28492532 PMID:31448845 NCBI chr 3:13,675,684...13,689,282
Ensembl chr 3:13,675,684...13,689,255 		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 chr17:5,558,992...5,870,299
Ensembl chr17:5,559,043...5,869,136 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    sensory system disease 7376
      eye disease 3723
        ocular motility disease 258
          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 19137
    disease of anatomical entity 18450
      nervous system disease 14357
        Neurologic Manifestations 10449
          sensory system disease 7376
            eye disease 3723
              ocular motility disease 258
                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