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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:Miosis
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Accession:DOID:9003165 term browser browse the term
Definition:Pupillary constriction. This may result from congenital absence of the dilatator pupillary muscle, defective sympathetic innervation, or irritation of the CONJUNCTIVA or CORNEA.
Synonyms:exact_synonym: Constricted Pupil;   Constricted Pupils;   Mioses;   Persistent Mioses;   Persistent Miosis;   Pupillary Mioses;   Pupillary Miosis;   Small Pupil;   Small Pupils
 primary_id: MESH:D015877;   RDO:0005816
For additional species annotation, visit the Alliance of Genome Resources.


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Miosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adcyap1 adenylate cyclase activating polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8637627 NCBI chr 9:121,705,897...121,725,736
Ensembl chr 9:121,706,979...121,725,716
JBrowse link
Stormorken syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stim1 stromal interaction molecule 1 ISO ClinVar Annotator: match by term: Stormorken syndrome OMIM
ClinVar
PMID:4085141, PMID:12623447, PMID:12745453, PMID:12944247, PMID:12944248, PMID:22190180, PMID:23332920, PMID:24492416, PMID:24570283, PMID:24591628, PMID:24619930, PMID:25044882, PMID:25326555, PMID:25577287, PMID:25741868, PMID:25918394, PMID:26184105, PMID:26436962, PMID:27066587, PMID:27239559, PMID:28492532, PMID:28624464, PMID:29237733 NCBI chr 1:167,373,894...167,533,412
Ensembl chr 1:167,373,678...167,533,420
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    sensory system disease 5213
      eye disease 2652
        pupil disease 12
          Miosis 2
            Horner's syndrome + 0
            Ophthalmoplegia Totalis with Ptosis and Miosis 0
            Spastic Ataxia with Congenital Miosis 0
            Stormorken syndrome 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        sensory system disease 5213
          eye disease 2652
            pupil disease 12
              Miosis 2
                Horner's syndrome + 0
                Ophthalmoplegia Totalis with Ptosis and Miosis 0
                Spastic Ataxia with Congenital Miosis 0
                Stormorken syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.