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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:pupil disease
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Accession:DOID:238 term browser browse the term
Definition:Conditions which affect the structure or function of the pupil of the eye, including disorders of innervation to the pupillary constrictor or dilator muscles, and disorders of pupillary reflexes.
Synonyms:exact_synonym: Afferent Pupillary Defect;   Deformed Pupil;   Efferent Pupillary Defect;   Efferent Pupillary Defects;   Fixed Pupil;   Fixed Pupils;   Keyhole Pupil;   Keyhole Pupils;   Marcus Gunn Pupil;   Non Syphilitic Argyll Robertson Pupil;   Occluded Pupil;   Occluded Pupils;   Pupil Disorder;   Pupil Disorders;   Pupil Malformation;   Pupil Malformations;   Pupil Reaction Absent;   Pupillary Anomalies;   Pupillary Anomaly;   Pupillary Disorder;   Pupillary Disorders;   Pupillary Occlusion;   Pupillary Occlusions;   Pupillary Paralyses;   Pupillary Paralysis;   Pupillary Sector Paralyses;   Pupillary Sector Paralysis;   Pupillary Sphincter Rupture;   Pupillary Sphincter Ruptures;   Reaction Absents, Pupil;   Sector Pupil Palsy;   Wernicke Hemianopic Pupil;   Wernicke's hemianopic pupil;   Wernickes hemianopic pupil;   afferent pupillary defects;   deformed pupils
 primary_id: MESH:D011681
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Anisocoria term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eya1 EYA transcriptional coactivator and phosphatase 1 ISO ClinVar Annotator: match by term: Anisocoria ClinVar PMID:30311386 NCBI chr 5:4,275,728...4,495,525
Ensembl chr 5:4,373,626...4,513,142
JBrowse link
G Triobp TRIO and F-actin binding protein ISO ClinVar Annotator: match by term: Anisocoria ClinVar PMID:30311386 NCBI chr 7:120,173,892...120,237,145
Ensembl chr 7:120,176,530...120,230,420
JBrowse link
BLADDER DYSFUNCTION, AUTONOMIC, WITH IMPAIRED PUPILLARY REFLEX AND SECONDARY CAKUT term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrna3 cholinergic receptor nicotinic alpha 3 subunit ISO ClinVar Annotator: match by term: Acontractile detrusor
ClinVar Annotator: match by term: CHRNA3-related condition
ClinVar
OMIM
PMID:25741868, PMID:31708116 NCBI chr 8:59,594,007...59,607,122
Ensembl chr 8:59,592,403...59,607,275
JBrowse link
ectopia lentis with ectopia of pupil term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamtsl4 ADAMTS-like 4 ISO ClinVar Annotator: match by term: Ectopia lentis et pupillae
ClinVar Annotator: match by OMIM:225200
OMIM
ClinVar
PMID:2056446, PMID:20564469, PMID:20702823, PMID:21051722, PMID:22736615, PMID:22871183, PMID:24033266, PMID:25741868, PMID:25975359, PMID:28492532, PMID:28642162 NCBI chr 2:197,803,572...197,815,058
Ensembl chr 2:197,803,584...197,814,808
JBrowse link
Ectopia Pupillae term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxc1 forkhead box C1 ISO ClinVar Annotator: match by term: Familial ectopic pupil ClinVar PMID:30311386 NCBI chr17:33,947,501...33,951,484
Ensembl chr17:33,947,506...33,951,484
JBrowse link
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
Multisystemic Smooth Muscle Dysfunction Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta2 actin alpha 2, smooth muscle ISO ClinVar Annotator: match by OMIM:613834
ClinVar Annotator: match by term: Multisystemic smooth muscle dysfunction syndrome
ClinVar Annotator: match by term: MYDRIASIS, CONGENITAL, WITH PATENT DUCTUS ARTERIOSUS, THORACIC AORTIC ANEURYSM, AND VASCULOPATHY
OMIM
ClinVar
PMID:10532176, PMID:13129918, PMID:14730227, PMID:15138499, PMID:15472996, PMID:19409525, PMID:20734336, PMID:20970362, PMID:22302747, PMID:22543189, PMID:22752479, PMID:22790431, PMID:22831780, PMID:22946110, PMID:23253043, PMID:23613326, PMID:24033266, PMID:24293535, PMID:24621862, PMID:24998021, PMID:25326635, PMID:25741868, PMID:25759435, PMID:25944730, PMID:26034244, PMID:26637293, PMID:27176728, PMID:27481187, PMID:27549731, PMID:27551047, PMID:28492532, PMID:29300374, PMID:30311386 NCBI chr 1:252,537,614...252,550,394
Ensembl chr 1:252,537,615...252,550,394
JBrowse link
G Fas Fas cell surface death receptor ISO ClinVar Annotator: match by term: Multisystemic smooth muscle dysfunction syndrome ClinVar NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
Pierson syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lamb2 laminin subunit beta 2 ISO ClinVar Annotator: match by term: Pierson syndrome
ClinVar Annotator: match by OMIM:609049
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:2206901, PMID:14136829, PMID:15367484, PMID:15372515, PMID:16097004, PMID:16912710, PMID:17256789, PMID:18594871, PMID:20507940, PMID:20556798, PMID:21763483, PMID:23349334, PMID:23595123, PMID:24033266, PMID:25741868, PMID:26108971, PMID:26239645, PMID:26248470, PMID:26467025, PMID:26467726, PMID:27858192, PMID:28492532, PMID:28780565, PMID:29127259, PMID:15367484, PMID:15367484 RGD:7207425, RGD:7207425 NCBI chr 8:117,268,335...117,280,517
Ensembl chr 8:117,268,337...117,280,517
JBrowse link
G Tns2 tensin 2 ISS OMIM:609049 MouseDO NCBI chr 7:143,702,623...143,720,995
Ensembl chr 7:143,707,237...143,720,595
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 16103
    sensory system disease 5162
      eye disease 2592
        pupil disease 11
          Anisocoria 2
          Congenital Corneal Opacities, Cornea Guttata, and Corectopia 0
          Congenital Microcoria 0
          Ectopia Pupillae 1
          Isolated Microphthalmia with Corectopia 0
          McPherson Robertson Cammarano Syndrome 0
          Miosis + 2
          Mydriasis + 2
          Pierson syndrome 2
          Ptosis, Strabismus, and Ectopic Pupils 0
          Tonic Pupil + 0
          abnormal pupillary function + 1
          ectopia lentis with ectopia of pupil 1
          total internal ophthalmoplegia 0
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        sensory system disease 5162
          eye disease 2592
            pupil disease 11
              Anisocoria 2
              Congenital Corneal Opacities, Cornea Guttata, and Corectopia 0
              Congenital Microcoria 0
              Ectopia Pupillae 1
              Isolated Microphthalmia with Corectopia 0
              McPherson Robertson Cammarano Syndrome 0
              Miosis + 2
              Mydriasis + 2
              Pierson syndrome 2
              Ptosis, Strabismus, and Ectopic Pupils 0
              Tonic Pupil + 0
              abnormal pupillary function + 1
              ectopia lentis with ectopia of pupil 1
              total internal ophthalmoplegia 0
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.