Human Phenotype Ontology

Last uploaded: April 26, 2024
Preferred Name

Retinal dystrophy

Synonyms

Breakdown of light-sensitive cells in back of eye

Definitions

Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event.

ID

http://purl.obolibrary.org/obo/HP_0000556

database_cross_reference

UMLS:C0854723

MSH:D058499

SNOMEDCT_US:314407005

definition

Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event.

has_alternative_id

HP:0007736

HP:0007982

HP:0007910

HP:0007974

has_exact_synonym

Breakdown of light-sensitive cells in back of eye

has_obo_namespace

human_phenotype

id

HP:0000556

label

Retinal dystrophy

notation

HP:0000556

prefLabel

Retinal dystrophy

treeView

http://purl.obolibrary.org/obo/HP_0000479

subClassOf

http://purl.obolibrary.org/obo/HP_0000479

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/HP_0000556 EFO SAME_URI
http://purl.obolibrary.org/obo/HP_0000556 OBA SAME_URI
http://purl.obolibrary.org/obo/HP_0000556 MONDO SAME_URI
http://purl.obolibrary.org/obo/HP_0000556 DIAB SAME_URI
http://purl.obolibrary.org/obo/HP_0000556 UPHENO SAME_URI
http://purl.obolibrary.org/obo/HP_0000556 KTAO SAME_URI
http://purl.obolibrary.org/obo/HP_0000556 MAXO SAME_URI
http://purl.obolibrary.org/obo/HP_0000556 EFO LOOM
http://purl.obolibrary.org/obo/HP_0000556 OBA LOOM
http://purl.obolibrary.org/obo/DOID_8501 CLO LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU001998 OMIM LOOM
http://purl.bioontology.org/ontology/MEDDRA/10038857 MEDDRA LOOM
http://www.limics.org/hrdo/rdfns#pat_id_11028 HRDO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Retinal_Dystrophy CSEO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0854723 OCHV LOOM
http://purl.obolibrary.org/obo/NCIT_C35625 BERO LOOM
http://www.phoc.org.cn/pmo/class/PMO_00006717 PMAPP-PMO LOOM
http://purl.obolibrary.org/obo/HP_0000556 DIAB LOOM
http://purl.obolibrary.org/obo/HP_0000556 UPHENO LOOM
http://purl.obolibrary.org/obo/HP_0000556 KTAO LOOM
http://purl.obolibrary.org/obo/HP_0000556 MAXO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/314407005 SNOMEDCT LOOM
http://www.gamuts.net/entity#retinal_dystrophy GAMUTS LOOM
http://purl.org/obo/owl/HP#HP_0000556 BDO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C35625 NCIT LOOM
http://www.gamuts.net/entity#retinal_dystrophy GAMUTS REST