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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.



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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 8:55,401,981...55,415,012
Ensembl chr 8:55,401,702...55,415,165
JBrowse link
Congenital Microcoria term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpr180 G protein-coupled receptor 180 ISO ClinVar Annotator: match by term: Congenital miosis ClinVar PMID:32672565 NCBI chr15:95,195,782...95,224,955
Ensembl chr15:95,199,777...95,228,373
JBrowse link
G Tgds TDP-glucose 4,6-dehydratase ISO ClinVar Annotator: match by term: Congenital miosis ClinVar PMID:32672565 NCBI chr15:95,174,607...95,195,577
Ensembl chr15:95,174,608...95,195,554
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 More... NCBI chr 2:183,235,634...183,247,091
Ensembl chr 2:183,235,646...183,246,848
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 9:113,102,632...113,122,500
Ensembl chr 9:113,103,718...113,109,773
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:15138499 PMID:15472996 PMID:19409525 More... NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554
JBrowse link
G Fas Fas cell surface death receptor ISO ClinVar Annotator: match by term: Multisystemic smooth muscle dysfunction syndrome ClinVar NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
JBrowse link
Pierson syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amt aminomethyltransferase ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:20234391 PMID:28492532 NCBI chr 8:108,981,620...108,988,127
Ensembl chr 8:108,976,472...108,988,126
JBrowse link
G Ccdc71 coiled-coil domain containing 71 ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:20234391 PMID:28492532 NCBI chr 8:109,146,650...109,161,749
Ensembl chr 8:109,146,359...109,165,216
JBrowse link
G Dag1 dystroglycan 1 ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:20234391 PMID:28492532 NCBI chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325
JBrowse link
G Gpx1 glutathione peroxidase 1 ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:20234391 PMID:28492532 NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
JBrowse link
G Iho1 interactor of HORMAD1 1 ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:20234391 PMID:28492532 NCBI chr 8:109,091,134...109,126,386
Ensembl chr 8:109,092,758...109,125,434
JBrowse link
G Klhdc8b kelch domain containing 8B ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:20234391 PMID:28492532 NCBI chr 8:109,141,594...109,146,584
Ensembl chr 8:109,141,594...109,146,918
JBrowse link
G Lamb2 laminin subunit beta 2 ISO ClinVar Annotator: match by term: Pierson syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:609049
ClinVar
CTD
OMIM
RGD
PMID:2206901 PMID:9536098 PMID:14136829 PMID:15367484 PMID:15372515 More... RGD:7207425, RGD:7207425 NCBI chr 8:109,178,367...109,190,552
Ensembl chr 8:109,178,409...109,190,549
JBrowse link
G LOC498675 hypothetical LOC498675 ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:20234391 PMID:28492532 NCBI chr 8:109,080,032...109,084,650
Ensembl chr 8:109,036,030...109,097,895
JBrowse link
G LOC680045 hypothetical protein LOC680045 ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:20234391 PMID:28492532 NCBI chr 8:109,131,138...109,140,784
Ensembl chr 8:109,124,762...109,140,791
JBrowse link
G Nicn1 nicolin 1 ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:20234391 PMID:28492532 NCBI chr 8:108,976,393...108,981,620
Ensembl chr 8:108,976,464...108,981,067
JBrowse link
G Rhoa ras homolog family member A ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:20234391 PMID:28492532 NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746
JBrowse link
G Tcta T-cell leukemia translocation altered ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:20234391 PMID:28492532 NCBI chr 8:108,988,588...108,992,324
Ensembl chr 8:108,988,590...108,991,564
JBrowse link
G Tns2 tensin 2 ISS OMIM:609049 MouseDO NCBI chr 7:133,229,746...133,247,889
Ensembl chr 7:133,206,364...133,247,888
JBrowse link
G Usp4 ubiquitin specific peptidase 4 ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:20234391 PMID:28492532 NCBI chr 8:109,035,402...109,080,427
Ensembl chr 8:109,036,099...109,080,427
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:9536098 PMID:12623447 PMID:12745453 PMID:12944247 More... NCBI chr 1:156,656,246...156,818,777
Ensembl chr 1:156,656,013...156,818,363
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    sensory system disease 5680
      eye disease 2766
        pupil disease 22
          Anisocoria 0
          Congenital Corneal Opacities, Cornea Guttata, and Corectopia 0
          Congenital Microcoria 2
          Ectopia Pupillae 0
          Isolated Microphthalmia with Corectopia 0
          McPherson Robertson Cammarano Syndrome 0
          Miosis + 2
          Mydriasis + 2
          Pierson syndrome 14
          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 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        sensory system disease 5680
          eye disease 2766
            pupil disease 22
              Anisocoria 0
              Congenital Corneal Opacities, Cornea Guttata, and Corectopia 0
              Congenital Microcoria 2
              Ectopia Pupillae 0
              Isolated Microphthalmia with Corectopia 0
              McPherson Robertson Cammarano Syndrome 0
              Miosis + 2
              Mydriasis + 2
              Pierson syndrome 14
              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