Human Phenotype Ontology 
Grandparent Node:
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Abnormality of vision (HP:0000504)help
Grandparent Node:
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Congenital stationary cone dysfunction (HP:0030637)help
Parent Node:
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Color vision defect (HP:0000551)help
..Starting node
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Monochromacy (HP:0007803)help
Term ID: 7803
Name: Monochromacy
Synonym: Complete achromatopsia; Total colorblindness
Definition: Complete color blindness, a complete inability to distinguish colors. Affected persons cannot perceive colors, but only shades of gray.
Comments:
Reference: HP:0007803
Genes and Diseases:
 
       Child Nodes:
........expandAchromatopsia (HP:0011516) help
........expandCone monochromacy (HP:0011517) help
................... HP:0007939 Blue cone monochromacy

 Sister Nodes: 
..expandColor vision test abnormality (HP:0030584) help
..expandDyschromatopsia (HP:0007641) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0007803HP:0007803Monochromacy0CNGB3 CL E G H54714262300Achromatopsia 3262300C1849792OMIM15902153605080
HP:0007803HP:0007803Monochromacy0CNGB3 CL E G H54714262300Achromatopsia 3262300C1849792OMIM17002153605080
HP:0007803HP:0007803Monochromacy0CNNM4 CL E G H26504217080Cone-rod dystrophy amelogenesis imperfecta217080C1857588OMIM1309105607805
HP:0007803HP:0007803Monochromacy0CNNM4 CL E G H26504217080Cone-rod dystrophy amelogenesis imperfecta217080C1857588OMIM1387105607805
HP:0007803HP:0011517Cone monochromacy1CNGB3 CL E G H54714262300Achromatopsia 3262300C1849792OMIM15902153605080
HP:0007803HP:0011516Achromatopsia1CNGB3 CL E G H54714262300Achromatopsia 3262300C1849792OMIM17002153605080
HP:0007803HP:0011516Achromatopsia1CNGB3 CL E G H54714262300Achromatopsia 3262300C1849792OMIM15902153605080
HP:0007803HP:0011517Cone monochromacy1CNGB3 CL E G H54714262300Achromatopsia 3262300C1849792OMIM17002153605080
HP:0007803HP:0011517Cone monochromacy1CNNM4 CL E G H26504217080Cone-rod dystrophy amelogenesis imperfecta217080C1857588OMIM1309105607805
HP:0007803HP:0011516Achromatopsia1CNNM4 CL E G H26504217080Cone-rod dystrophy amelogenesis imperfecta217080C1857588OMIM1387105607805
HP:0007803HP:0011516Achromatopsia1CNNM4 CL E G H26504217080Cone-rod dystrophy amelogenesis imperfecta217080C1857588OMIM1309105607805
HP:0007803HP:0011517Cone monochromacy1CNNM4 CL E G H26504217080Cone-rod dystrophy amelogenesis imperfecta217080C1857588OMIM1387105607805
HP:0007803HP:0007939Blue cone monochromacy2CNGB3 CL E G H54714262300Achromatopsia 3262300C1849792OMIM17002153605080
HP:0007803HP:0007939Blue cone monochromacy2CNGB3 CL E G H54714262300Achromatopsia 3262300C1849792OMIM15902153605080
HP:0007803HP:0007939Blue cone monochromacy2CNNM4 CL E G H26504217080Cone-rod dystrophy amelogenesis imperfecta217080C1857588OMIM1387105607805
HP:0007803HP:0007939Blue cone monochromacy2CNNM4 CL E G H26504217080Cone-rod dystrophy amelogenesis imperfecta217080C1857588OMIM1309105607805
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007803HP:0007803Monochromacy0HBB CL E G H3043231214ORPHA012704827141900
HP:0007803HP:0007803Monochromacy0HBB CL E G H3043231214ORPHA012834827141900
HP:0007803HP:0011517Cone monochromacy1HBB CL E G H3043231214ORPHA012704827141900
HP:0007803HP:0011516Achromatopsia1HBB CL E G H3043231214ORPHA012834827141900
HP:0007803HP:0011516Achromatopsia1HBB CL E G H3043231214ORPHA012704827141900
HP:0007803HP:0011517Cone monochromacy1HBB CL E G H3043231214ORPHA012834827141900
HP:0007803HP:0007939Blue cone monochromacy2HBB CL E G H3043231214ORPHA012834827141900
HP:0007803HP:0007939Blue cone monochromacy2HBB CL E G H3043231214ORPHA012704827141900


Genes (12) :ATF6 CNGA3 CNGB3 CNNM4 GNAT2 HBB NBAS OPN1LW OPN1MW PDE6C PDE6H RPGR

Diseases (10) :262300 217080 231214 616517 216900 613856 614800 49382 16 303700
 

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