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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Achromatopsia (HP:0011516)help
Term ID: 11516
Name: Achromatopsia
Synonym: Rod monochromacy; Rod monochromatism
Definition: A condition where the retina contains no functional cone cells, so that in addition to the absence of color discrimination, vision in lights of normal intensity is difficult.
Comments:
Reference: HP:0011516
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandCone monochromacy (HP:0011517) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0011516HP:0011516Achromatopsia0CNGA3 CL E G H1261216900Achromatopsia 2216900C1857618OMIM14972150600053
HP:0011516HP:0011516Achromatopsia0CNGA3 CL E G H1261216900Achromatopsia 2216900C1857618OMIM13982150600053
HP:0011516HP:0011516Achromatopsia0CNGB3 CL E G H54714262300Achromatopsia 3262300C1849792OMIM17002153605080
HP:0011516HP:0011516Achromatopsia0CNGB3 CL E G H54714262300Achromatopsia 3262300C1849792OMIM15902153605080
HP:0011516HP:0011516Achromatopsia0GNAT2 CL E G H2780613856Achromatopsia 4613856C1841721OMIM11584394139340
HP:0011516HP:0011516Achromatopsia0GNAT2 CL E G H2780613856Achromatopsia 4613856C1841721OMIM11314394139340
HP:0011516HP:0011516Achromatopsia0NBAS CL E G H51594614800Short stature, optic nerve atrophy, and Pelger-Huet anomaly614800C3541319OMIM191515625608025
HP:0011516HP:0011516Achromatopsia0NBAS CL E G H51594614800Short stature, optic nerve atrophy, and Pelger-Huet anomaly614800C3541319OMIM136715625608025
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011516HP:0011516Achromatopsia0ATF6 CL E G H22926616517Achromatopsia 7616517C4225297OMIM0246791605537
HP:0011516HP:0011516Achromatopsia0ATF6 CL E G H22926616517Achromatopsia 7616517C4225297OMIM0178791605537


Genes (5) :ATF6 CNGA3 CNGB3 GNAT2 NBAS

Diseases (5) :616517 216900 262300 613856 614800
 

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