Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023
Preferred Name

Stargardt disease

Synonyms

Fundus flavimaculatus

Definitions

A rare ophthalmic disorder that is usually characterized by a progressive loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks, and a so-called ''beaten bronze'' atrophic central macular lesion.

ID

http://www.orpha.net/ORDO/Orphanet_827

alternative_term

Fundus flavimaculatus

Stargardt 1

definition

A rare ophthalmic disorder that is usually characterized by a progressive loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks, and a so-called ''beaten bronze'' atrophic central macular lesion.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=827

has_age_of_onset

Adolescent

Adult

Childhood

Elderly

has_inheritance

Autosomal recessive

Autosomal dominant

hasDbXref

ICD-10:H35.5

OMIM:603786

OMIM:248200

UMLS:C0271093

MedDRA:10062766

OMIM:600110

ICD-11:9B70

MeSH:D000080362

label

Stargardt disease

notation

ORPHA:827

part_of

http://www.orpha.net/ORDO/Orphanet_519302

http://www.orpha.net/ORDO/Orphanet_519319

prefixIRI

ORDO:Orphanet_827

prefLabel

Stargardt disease

present_in

Europe AND has_point_prevalence_average_value : 13.0 AND has_point_prevalence_range : 1-5 / 10 000

treeView

http://www.orpha.net/ORDO/Orphanet_519302

http://www.orpha.net/ORDO/Orphanet_519319

subClassOf

http://www.orpha.net/ORDO/Orphanet_377788

http://www.orpha.net/ORDO/Orphanet_557493

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