Combined Phenotype Ontology

Last uploaded: November 18, 2021
Preferred Name

Achromatopsia

Synonyms

Rod monochromatism

Rod monochromacy

Definitions

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. The end stage of cone degeneration is rod monochromacy, also called achromatopsia, in which vision is mediated exclusively by rod photoreceptors. Rod monochromacy can also be manifest from birth and can be due to congenitally absent or dysfunctional cone photoreceptors. There is no rod counterpart to cone degeneration; all rod photoreceptor degenerations have a secondary loss of cones and are categorized as retinitis pigmentosa.

ID

http://purl.obolibrary.org/obo/HP_0011516

comment

The end stage of cone degeneration is rod monochromacy, also called achromatopsia, in which vision is mediated exclusively by rod photoreceptors. Rod monochromacy can also be manifest from birth and can be due to congenitally absent or dysfunctional cone photoreceptors. There is no rod counterpart to cone degeneration; all rod photoreceptor degenerations have a secondary loss of cones and are categorized as retinitis pigmentosa.

creation date

2012-04-06T06:40:03Z

creator

https://orcid.org/0000-0002-0736-9199

database_cross_reference

SNOMEDCT_US:102450007

UMLS:C0302129

MSH:C536021

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.

has exact synonym

Rod monochromatism

Rod monochromacy

id

HP:0011516

label

Achromatopsia

notation

HP:0011516

prefLabel

Achromatopsia

subClassOf

http://purl.obolibrary.org/obo/HP_0007803

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/HP_0011516 HP SAME_URI
http://purl.obolibrary.org/obo/HP_0011516 HP LOOM
http://www.orpha.net/ORDO/Orphanet_49382 ORDO LOOM
http://purl.obolibrary.org/obo/MONDO_0018852 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0018852 EFO LOOM
http://purl.obolibrary.org/obo/DOID_13911 CLO LOOM
http://purl.obolibrary.org/obo/DOID_13911 DOID LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Achromatopsia CSEO LOOM
http://www.phoc.org.cn/pmo/class/PMO_00007304 PMAPP-PMO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10000454 MEDDRA LOOM
http://purl.obolibrary.org/obo/MONDO_0018852 DOVES LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84528 NCIT LOOM
http://purl.bioontology.org/ontology/ICD9CM/368.54 ICD9CM LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#17214 OCHV LOOM
http://purl.bioontology.org/ontology/ICD10CM/H53.51 ICD10CM LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0152200 OCHV LOOM
http://purl.obolibrary.org/obo/DOID_13911 DTO LOOM
http://purl.obolibrary.org/obo/DOID_13911 BAO LOOM
http://purl.obolibrary.org/obo/DOID_13911 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_13911 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_13911 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_13911 FNS-H LOOM
http://www.orpha.net/ORDO/Orphanet_49382 ORDO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_13911 NATPRO LOOM
http://purl.bioontology.org/ontology/SNMI/DA-74740 SNMI LOOM
http://www.semanticweb.org/danielhier/ontologies/2019/3/untitled-ontology-57/achromatopsia NEO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/56852002 SNOMEDCT LOOM
http://www.limics.org/hrdo/rdfns#pat_id_10639 HRDO LOOM
http://purl.obolibrary.org/obo/NCIT_C84528 BERO LOOM