Stargardt disease

Summary
Synonym
  • STARGARDT DISEASE 1
Definition
An age related macular degeneration that is characterized by progressive vision loss usually to the point of legal blindness.
Super Class
age related macular degeneration
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
24 ABCA4 ATP binding cassette subfamily A member 4
6785 ELOVL4 ELOVL fatty acid elongase 4
Displaying all 2 entries
Gene ID Gene Symbol Description Source
11304 Abca4 ATP-binding cassette, sub-family A member 4
83603 Elovl4 ELOVL fatty acid elongase 4
Displaying 1 entry
Gene ID Gene Symbol Description Source
171782 abt-2 ABC transporter domain-containing protein
The Human Phenotype Ontology
Displaying entries 1 - 10 of 18 in total
HPO ID HPO Term
HP:0007663 Reduced visual acuity
HP:0000608 Macular degeneration
HP:0008002 Abnormality of macular pigmentation
HP:0000551 Color vision defect
HP:0007722 Retinal pigment epithelial atrophy
HP:0000649 Abnormality of visual evoked potentials
HP:0000493 Abnormal foveal morphology
HP:0000662 Nyctalopia
HP:0007814 Retinal pigment epithelial mottling
HP:0000603 Central scotoma
Displaying 1 entry
Gene ID Gene Symbol Description
6785 ELOVL4 ELOVL fatty acid elongase 4

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024