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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;   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;   efferent pupillary defects
 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: CHRNA3-related condition | ClinVar Annotator: match by term: Urinary bladder, atony of ClinVar
OMIM		 PMID:25741868 PMID:28492532 PMID:31708116 NCBI chr 8:64,297,755...64,311,251
Ensembl chr 8:55,401,702...55,415,165 		JBrowse link
Congenital Corneal Opacities, Cornea Guttata, and Corectopia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfhx4 zinc finger homeobox 4 ISO ClinVar Annotator: match by term: Congenital corneal opacity ClinVar PMID:25741868 PMID:39450701 NCBI chr 2:98,131,996...98,321,070
Ensembl chr 2:96,224,767...96,408,228 		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 chr15:101,581,765...101,602,779
Ensembl chr15:95,174,608...95,195,554 		JBrowse link
Congenital Mydriasis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 ISO ClinVar Annotator: match by term: Bilateral congenital mydriasis ClinVar PMID:25741868 NCBI chr 4:142,743,401...143,066,505
Ensembl chr 4:141,187,418...141,510,491 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2056446 PMID:9536098 PMID:17576681 PMID:20564469 PMID:20702823 More... NCBI chr 2:185,924,582...185,936,039
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 term: MYDRIASIS, CONGENITAL, WITH PATENT DUCTUS ARTERIOSUS, THORACIC AORTIC ANEURYSM, AND VASCULOPATHY | ClinVar Annotator: match by term: Multisystemic smooth muscle dysfunction syndrome | ClinVar Annotator: match by term: SMOOTH MUSCLE DYSFUNCTION SYNDROME OMIM
ClinVar		 PMID:646322 PMID:9536098 PMID:10532176 PMID:13129918 PMID:14730227 More... NCBI chr 1:241,159,723...241,172,503
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 PMID:25741868 NCBI chr 1:241,212,155...241,245,774
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:28492532 NCBI chr 8:117,859,700...117,866,692
Ensembl chr 8:108,976,472...108,988,126 		JBrowse link
G C8h3orf62 similar to human chromosome 3 open reading frame 62 ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:28492532 NCBI chr 8:109,080,032...109,084,588
Ensembl chr 8:109,036,030...109,097,895 		JBrowse link
G Ccdc71 coiled-coil domain containing 71 ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:28492532 NCBI chr 8:109,146,650...109,161,749
Ensembl chr 8:109,146,359...109,165,216 		JBrowse link
G Cimip7 ciliary microtubule inner protein 7 ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:28492532 NCBI chr 8:109,131,138...109,140,784
Ensembl chr 8:109,124,762...109,140,791 		JBrowse link
G Dag1 dystroglycan 1 ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:28492532 NCBI chr 8:117,769,517...117,834,347
Ensembl chr 8:108,890,929...108,952,325 		JBrowse link
G Dicer1 dicer 1 ribonuclease III ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:19556464 PMID:21266384 PMID:24839956 PMID:25741868 PMID:26925222 More... NCBI chr 6:129,392,298...129,457,252
Ensembl chr 6:123,631,250...123,693,965 		JBrowse link
G Gpx1 glutathione peroxidase 1 ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:28492532 NCBI chr 8:117,905,462...117,906,588
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: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: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
ISS		 ClinVar Annotator: match by term: Pierson syndrome
ClinVar Annotator: match by term: MICROCORIA-CONGENITAL NEPHROTIC SYNDROME | ClinVar Annotator: match by term: Pierson syndrome
OMIM:609049
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:2206901 PMID:9536098 PMID:14136829 PMID:15367484 PMID:15372515 More... RGD:7207425, RGD:7207425 NCBI chr 8:118,056,899...118,069,090
Ensembl chr 8:109,178,409...109,190,549 		JBrowse link
G Nicn1 nicolin 1, tubulin polyglutamylase complex subunit ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 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:28492532 NCBI chr 8:117,870,548...117,904,303
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:28492532 NCBI chr 8:117,867,153...117,871,132
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:28492532 NCBI chr 8:117,912,576...117,957,934
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 Pgap2 post-GPI attachment to proteins 2 ISO ClinVar Annotator: match by term: Stormorken syndrome ClinVar PMID:28492532 NCBI chr 1:166,003,593...166,030,088
Ensembl chr 1:156,591,615...156,618,114 		JBrowse link
G Rhog ras homolog family member G ISO ClinVar Annotator: match by term: Stormorken syndrome ClinVar PMID:28492532 NCBI chr 1:166,030,685...166,046,254
Ensembl chr 1:156,615,349...156,631,257 		JBrowse link
G Stim1 stromal interaction molecule 1 ISO
ISS		 OMIM:185070
ClinVar Annotator: match by term: Stormorken syndrome | ClinVar Annotator: match by term: THROMBOCYTOPATHY, ASPLENIA, AND MIOSIS		 OMIM
MouseDO
ClinVar		 PMID:4085141 PMID:9536098 PMID:12623447 PMID:12745453 PMID:12944247 More... NCBI chr 1:166,067,450...166,230,733
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 19142
    sensory system disease 7373
      eye disease 3724
        pupil disease 27
          Anisocoria 0
          Congenital Corneal Opacities, Cornea Guttata, and Corectopia 1
          Congenital Microcoria 2
          Ectopia Pupillae 0
          Isolated Microphthalmia with Corectopia 0
          McPherson Robertson Cammarano Syndrome 0
          Miosis + 4
          Mydriasis + 3
          Pierson syndrome 15
          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 19142
    disease of anatomical entity 18455
      nervous system disease 14362
        Neurologic Manifestations 10451
          sensory system disease 7373
            eye disease 3724
              pupil disease 27
                Anisocoria 0
                Congenital Corneal Opacities, Cornea Guttata, and Corectopia 1
                Congenital Microcoria 2
                Ectopia Pupillae 0
                Isolated Microphthalmia with Corectopia 0
                McPherson Robertson Cammarano Syndrome 0
                Miosis + 4
                Mydriasis + 3
                Pierson syndrome 15
                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