Human Phenotype Ontology 
Grandparent Node:
expandColor vision defect (HP:0000551)help
Parent Node:
expandMonochromacy (HP:0007803)help
..Starting node
..expandCone 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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011517HP:0011517Cone monochromacy0OPN1LW CL E G H59569936OMIM:303700Blue cone monochromacy7
HP:0011517HP:0011517Cone monochromacy0OPN1LW CL E G H59569936ORPHA:16Blue cone monochromatism7
HP:0011517HP:0011517Cone monochromacy0OPN1MW CL E G H26524206OMIM:303700Blue cone monochromacy5
HP:0011517HP:0011517Cone monochromacy0OPN1MW CL E G H26524206ORPHA:16Blue cone monochromatism5
HP:0011517HP:0007939Blue cone monochromacy1OPN1LW CL E G H59569936OMIM:303700Blue cone monochromacy.7
HP:0011517HP:0007939Blue cone monochromacy1OPN1LW CL E G H59569936ORPHA:16Blue cone monochromatismHP:0040281 - Very frequent7
HP:0011517HP:0007939Blue cone monochromacy1OPN1MW CL E G H26524206OMIM:303700Blue cone monochromacy.5
HP:0011517HP:0007939Blue cone monochromacy1OPN1MW CL E G H26524206ORPHA:16Blue cone monochromatismHP:0040281 - Very frequent5


Genes (2) :OPN1LW OPN1MW

Diseases (2) :OMIM:303700 ORPHA:16
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.