Human Phenotype Ontology 
Grandparent Node:
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Abnormal eye physiology (HP:0012373)help
Parent Node:
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Abnormality of vision (HP:0000504)help
..Starting node
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Hemeralopia (HP:0012047)help
Term ID: 12047
Name: Hemeralopia
Synonym: Day blindness
Definition: A visual defect characterized by the inability to see as clearly in bright light as in dim light. The word hemeralopia literally means day blindness.
Comments:
Reference: HP:0012047
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormality of binocular vision (HP:0011514) help
..expandAmaurosis fugax (HP:0100576) help
..expandBlurred vision (HP:0000622) help
..expandBradyopsia (HP:0030511) help
..expandColor vision defect (HP:0000551) help
..expandDifficulty adjusting to changes in luminance (HP:0030512) help
..expandMetamorphopsia (HP:0012508) help
..expandNyctalopia (HP:0000662) help
..expandPhotophobia (HP:0000613) help
..expandPhotopsia (HP:0030786) help
..expandPoor visual behavior for age (HP:0025152) help
..expandReduced visual acuity (HP:0007663) help
..expandVisual field defect (HP:0001123) help
..expandVisual impairment (HP:0000505) help
..expandVisual loss (HP:0000572) help
..expandVitreous floaters (HP:0100832) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0012047HP:0012047Hemeralopia0CNGA3 CL E G H1261216900Achromatopsia 2216900C1857618OMIM11523972150600053
HP:0012047HP:0012047Hemeralopia0GRM6 CL E G H2916257270Congenital stationary night blindness, type 1B257270C1850362OMIM1384404598604096
HP:0012047HP:0012047Hemeralopia0GUCY2D CL E G H3000601777Cone-rod dystrophy 6601777C1866293OMIM12435884689600179
HP:0012047HP:0012047Hemeralopia0NR2E3 CL E G H10002268100Enhanced s-cone syndrome268100C1849394OMIM1803627974604485
HP:0012047HP:0012047Hemeralopia0NYX CL E G H60506310500Congenital stationary night blindness, type 1A310500C3495587OMIM1913178082300278
HP:0012047HP:0012047Hemeralopia0SAG CL E G H6295258100Oguchi's disease258100C1306122OMIM11623010521181031
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012047HP:0012047Hemeralopia0ATXN7 CL E G H631494147ORPHA063610560607640


Genes (7) :ATXN7 CNGA3 GRM6 GUCY2D NR2E3 NYX SAG

Diseases (7) :94147 216900 257270 601777 268100 310500 258100
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.