Visual loss (Phenotype)

Phenotype:

SU003778

Synonyms:Loss of vision, Vision loss, Visual loss

Id:HP:0000572

Description:Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).

Results found

Linked to

	Label	Description
	SLC52A2 Gene (Entity type)	ENSG00000185803 - solute carrier family 52 member 2
	RAB5C Gene (Entity type)	ENSG00000108774 - RAB5C, member RAS oncogene family
	EBAG9 Gene (Entity type)	ENSG00000147654 - estrogen receptor binding site associated antigen 9
	EXOSC9 Gene (Entity type)	ENSG00000123737 - exosome component 9
	MT-CO1 Gene (Entity type)	ENSG00000198804 - mitochondrially encoded cytochrome c oxidase I [Source:HGNC Symbol;Acc:HGNC:7419]
	LSS Gene (Entity type)	ENSG00000281289 - lanosterol synthase [Source:HGNC Symbol;Acc:HGNC:6708]
	HLCS Gene (Entity type)	ENSG00000159267 - holocarboxylase synthetase
	MTTP Gene (Entity type)	ENSG00000138823 - microsomal triglyceride transfer protein
	RDH5 Gene (Entity type)	ENSG00000135437 - retinol dehydrogenase 5
	GPR87 Gene (Entity type)	ENSG00000138271 - G protein-coupled receptor 87

SLC52A2

Gene (Entity type)

ENSG00000185803 - solute carrier family 52 member 2

RAB5C

Gene (Entity type)

ENSG00000108774 - RAB5C, member RAS oncogene family

EBAG9

Gene (Entity type)

ENSG00000147654 - estrogen receptor binding site associated antigen 9

EXOSC9

Gene (Entity type)

ENSG00000123737 - exosome component 9

MT-CO1

Gene (Entity type)

ENSG00000198804 - mitochondrially encoded cytochrome c oxidase I [Source:HGNC Symbol;Acc:HGNC:7419]

LSS

Gene (Entity type)

ENSG00000281289 - lanosterol synthase [Source:HGNC Symbol;Acc:HGNC:6708]

HLCS

Gene (Entity type)

ENSG00000159267 - holocarboxylase synthetase

MTTP

Gene (Entity type)

ENSG00000138823 - microsomal triglyceride transfer protein

RDH5

Gene (Entity type)

ENSG00000135437 - retinol dehydrogenase 5

GPR87

Gene (Entity type)

ENSG00000138271 - G protein-coupled receptor 87

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@CFDE Workbench 2026

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Consortium

Community

Resources

CFDE Workbench

The CFDE Workbench is actively being developed and maintained by the CFDE Data Resource Center (DRC).The DRC is funded by OT2OD036435 from the Common Fund at the National Institutes of Health.

@CFDE Workbench 2026

This repository is under review for potential modification in compliance with Administration directives.