Human Phenotype Ontology 
Grandparent Node:
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Monochromacy (HP:0007803)help
Parent Node:
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Cone monochromacy (HP:0011517)help
..Starting node
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Blue cone monochromacy (HP:0007939)help
Term ID: 7939
Name: Blue cone monochromacy
Synonym: Blue cone monochromatism; Incomplete achromatopsia; S-cone monochromacy
Definition: A form of monochromacy in which vision is derived from the remaining preserved blue (S) cones and rod photoreceptors.
Comments:
Reference: HP:0007939
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007939HP:0007939Blue cone monochromacy0OPN1LW CL E G H59569936OMIM:303700Blue cone monochromacy.7
HP:0007939HP:0007939Blue cone monochromacy0OPN1LW CL E G H59569936ORPHA:16Blue cone monochromatismHP:0040281 - Very frequent7
HP:0007939HP:0007939Blue cone monochromacy0OPN1MW CL E G H26524206OMIM:303700Blue cone monochromacy.5
HP:0007939HP:0007939Blue cone monochromacy0OPN1MW 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.