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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011516HP:0011516Achromatopsia0ATF6 CL E G H22926791OMIM:616517ACHROMATOPSIA 7; ACHM710
HP:0011516HP:0011516Achromatopsia0CNGA3 CL E G H12612150OMIM:216900Achromatopsia 2.82
HP:0011516HP:0011516Achromatopsia0CNGB3 CL E G H547142153OMIM:262300Achromatopsia 3.194
HP:0011516HP:0011516Achromatopsia0GNAT2 CL E G H27804394OMIM:613856ACHROMATOPSIA 4; ACHM419
HP:0011516HP:0011516Achromatopsia0NBAS CL E G H5159415625OMIM:614800Short stature, optic nerve atrophy, and pelger-huet anomaly.25


Genes (5) :ATF6 CNGA3 CNGB3 GNAT2 NBAS

Diseases (5) :OMIM:616517 OMIM:216900 OMIM:262300 OMIM:613856 OMIM:614800
 

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