Human Phenotype Ontology 
Grandparent Node:
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Color vision defect (HP:0000551)help
Parent Node:
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Monochromacy (HP:0007803)help
..Starting node
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Cone monochromacy (HP:0011517)help
Term ID: 11517
Name: Cone monochromacy
Synonym:
Definition: The condition of having both rods and cones, but only a single kind of cone. Affected individuals have good pattern vision in daylight, but cannot distinguish between colors.
Comments:
Reference: HP:0011517
Genes and Diseases:
 
       Child Nodes:
........expandBlue cone monochromacy (HP:0007939) help

 Sister Nodes: 
..expandAchromatopsia (HP:0011516) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011517HP:0011517Cone monochromacy0 CL E G H
HP:0011517HP:0007939Blue cone monochromacy1 CL E G H


Genes (9) :ATF6 CNGA3 CNGB3 GNAT2 OPN1LW OPN1MW PDE6C PDE6H RPGR

Diseases (3) :49382 16 303700
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.