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 entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0007939HP:0007939Blue cone monochromacy0OPN1LW CL E G H595616ORPHA12719936300822
HP:0007939HP:0007939Blue cone monochromacy0OPN1LW CL E G H595616ORPHA12649936300822
HP:0007939HP:0007939Blue cone monochromacy0OPN1LW CL E G H5956303700Cone monochromatism303700C0339537OMIM12719936300822
HP:0007939HP:0007939Blue cone monochromacy0OPN1LW CL E G H5956303700Cone monochromatism303700C0339537OMIM12649936300822
HP:0007939HP:0007939Blue cone monochromacy0OPN1MW CL E G H265216ORPHA12604206300821
HP:0007939HP:0007939Blue cone monochromacy0OPN1MW CL E G H265216ORPHA12554206300821
HP:0007939HP:0007939Blue cone monochromacy0OPN1MW CL E G H2652303700Cone monochromatism303700C0339537OMIM12604206300821
HP:0007939HP:0007939Blue cone monochromacy0OPN1MW CL E G H2652303700Cone monochromatism303700C0339537OMIM12554206300821
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007939HP:0007939Blue cone monochromacy0ATF6 CL E G H2292649382ORPHA0246791605537
HP:0007939HP:0007939Blue cone monochromacy0ATF6 CL E G H2292649382ORPHA0178791605537
HP:0007939HP:0007939Blue cone monochromacy0CNGA3 CL E G H126149382ORPHA04972150600053
HP:0007939HP:0007939Blue cone monochromacy0CNGA3 CL E G H126149382ORPHA03982150600053
HP:0007939HP:0007939Blue cone monochromacy0CNGB3 CL E G H5471449382ORPHA07002153605080
HP:0007939HP:0007939Blue cone monochromacy0CNGB3 CL E G H5471449382ORPHA05902153605080
HP:0007939HP:0007939Blue cone monochromacy0GNAT2 CL E G H278049382ORPHA01584394139340
HP:0007939HP:0007939Blue cone monochromacy0GNAT2 CL E G H278049382ORPHA01314394139340
HP:0007939HP:0007939Blue cone monochromacy0PDE6C CL E G H514649382ORPHA04108787600827
HP:0007939HP:0007939Blue cone monochromacy0PDE6C CL E G H514649382ORPHA03298787600827
HP:0007939HP:0007939Blue cone monochromacy0PDE6H CL E G H514949382ORPHA0808790601190
HP:0007939HP:0007939Blue cone monochromacy0PDE6H CL E G H514949382ORPHA0748790601190
HP:0007939HP:0007939Blue cone monochromacy0RPGR CL E G H610349382ORPHA084710295312610
HP:0007939HP:0007939Blue cone monochromacy0RPGR CL E G H610349382ORPHA080210295312610


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.