ONTOLOGY REPORT - ANNOTATIONS


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;   Deformed Pupils;   Ectopic Pupil;   Ectopic Pupils;   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
 primary_id: MESH:D011681
 alt_id: RDO:0001664
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Ectopia Lentis with Ectopia of Pupil term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamtsl4 ADAMTS-like 4 JBrowse link 2 197,803,572 197,815,058 RGD:7240710
RGD:8554872
Miosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adcyap1 adenylate cyclase activating polypeptide 1 JBrowse link 9 121,705,897 121,725,736 RGD:11554173
Multisystemic Smooth Muscle Dysfunction Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acta2 actin alpha 2, smooth muscle JBrowse link 1 252,537,614 252,550,394 RGD:7240710
RGD:8554872
G Fas Fas cell surface death receptor JBrowse link 1 252,589,785 252,624,790 RGD:8554872
Pierson syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdkn2a cyclin-dependent kinase inhibitor 2A JBrowse link 5 107,823,323 107,832,405 RGD:8554872
G Lamb2 laminin subunit beta 2 JBrowse link 8 117,268,335 117,280,517 RGD:7207425
RGD:8554872
RGD:11554173
RGD:7240710
G Tns2 tensin 2 JBrowse link 7 143,702,623 143,720,995 RGD:13592920
Stormorken syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Stim1 stromal interaction molecule 1 JBrowse link 1 167,373,894 167,533,412 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14920
    sensory system disease 4265
      eye and adnexa disease 1995
        eye disease 1995
          pupil disease 8
            Anisocoria 0
            Congenital Corneal Opacities, Cornea Guttata, and Corectopia 0
            Congenital Microcoria 0
            Ectopia Lentis with Ectopia of Pupil 1
            Ectopia Pupillae 0
            Isolated Microphthalmia with Corectopia 0
            McPherson Robertson Cammarano Syndrome 0
            Miosis + 2
            Mydriasis + 2
            Pierson syndrome 3
            Ptosis, Strabismus, and Ectopic Pupils 0
            Tonic Pupil + 0
            abnormal pupillary function + 0
            total internal ophthalmoplegia 0
Path 2
Term Annotations click to browse term
  disease 14920
    disease of anatomical entity 14086
      nervous system disease 9150
        sensory system disease 4265
          eye and adnexa disease 1995
            eye disease 1995
              pupil disease 8
                Anisocoria 0
                Congenital Corneal Opacities, Cornea Guttata, and Corectopia 0
                Congenital Microcoria 0
                Ectopia Lentis with Ectopia of Pupil 1
                Ectopia Pupillae 0
                Isolated Microphthalmia with Corectopia 0
                McPherson Robertson Cammarano Syndrome 0
                Miosis + 2
                Mydriasis + 2
                Pierson syndrome 3
                Ptosis, Strabismus, and Ectopic Pupils 0
                Tonic Pupil + 0
                abnormal pupillary function + 0
                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.