PMO Precision Medicine Ontology

Last uploaded: December 16, 2020
Preferred Name

Retinal Dystrophy

Synonyms
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://www.phoc.org.cn/pmo/class/PMO_00006717

Database_Cross_Reference

OMIM:MTHU001998

MDR:10038857

NCI:C35625

DO:DOID:8501

NDFRT:N0000182205

CHV:0000050289

HPO:HP:0000556

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.

equivalentClass

http://www.phoc.org.cn/pmo/class/PMO_00037142

label

Retinal Dystrophy

MCID

MC00298031

PMOID

PMO:00006717

prefixIRI

pmo:PMO_00006717

prefLabel

Retinal Dystrophy

Synonym

Retinal dystrophy

dystrophies retinal

Dystrophies, Retinal

Retinal Dystrophies [Disease/Finding]

fundus dystrophy

Dystrophy, Retinal

Retinal dystrophy (disorder)

Retinal Dystrophies

Tree Number

T3.18.1.6.2.9.19

subClassOf

http://www.phoc.org.cn/pmo/class/PMO_00037136

http://www.phoc.org.cn/pmo/class/PMO_00006616

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