Human Phenotype Ontology

Last uploaded: February 24, 2022
Preferred Name

Retinal dysplasia

Synonyms

Retinal dysgenesis

Definitions

This feature is a congenital developmental anomaly of the retina characterized by abnormal growth and differentiation. The retina contains numerous tubular structures and rosettes. Retinal dysplasia (synonym: retinal dysgenesis) is often accompanied by retinal detachment and micropthalmos, but the latter features should be coded separately. The presence of developmental dysplasia of the retina.

ID

http://purl.obolibrary.org/obo/HP_0007973

comment

This feature is a congenital developmental anomaly of the retina characterized by abnormal growth and differentiation. The retina contains numerous tubular structures and rosettes. Retinal dysplasia (synonym: retinal dysgenesis) is often accompanied by retinal detachment and micropthalmos, but the latter features should be coded separately.

database_cross_reference

SNOMEDCT_US:95494009

MSH:D015792

UMLS:C0035313

definition

The presence of developmental dysplasia of the retina.

has_alternative_id

HP:0007901

HP:0008022

has_exact_synonym

Retinal dysgenesis

has_obo_namespace

human_phenotype

id

HP:0007973

in_subset

http://purl.obolibrary.org/obo/hp.obo#hposlim_core

label

Retinal dysplasia

notation

HP:0007973

prefLabel

Retinal dysplasia

treeView

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

subClassOf

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

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http://purl.bioontology.org/ontology/MESH/D015792 Medical Subject Headings LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU020469 Online Mendelian Inheritance in Man LOOM