CFDE Data Portal | Phenotype

Phenotype

	Label	Description
	Glaucoma Phenotype (Entity type)	Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usual...
	Myopathy Phenotype (Entity type)	A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
	Colitis Phenotype (Entity type)	Colitis refers to an inflammation of the colon and is often used to describe an inflammation of the ...
	Visual loss Phenotype (Entity type)	Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise t...
	Alopecia Phenotype (Entity type)	A noncongenital process of hair loss, which may progress to partial or complete baldness.
	Infertility Phenotype (Entity type)	A Phenotype
	Autism Phenotype (Entity type)	Autism is a neurodevelopmental disorder characterized by impaired social interaction and communicati...
	Systemic lupus erythematosus Phenotype (Entity type)	A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, c...
	Insulin resistance Phenotype (Entity type)	Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood...
	Hyperlipidemia Phenotype (Entity type)	An elevated lipid concentration in the blood.

Glaucoma

Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usual...

Myopathy

A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.

Colitis

Colitis refers to an inflammation of the colon and is often used to describe an inflammation of the ...

Visual loss

Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise t...

Alopecia

A noncongenital process of hair loss, which may progress to partial or complete baldness.

Infertility

A Phenotype

Autism

Autism is a neurodevelopmental disorder characterized by impaired social interaction and communicati...

Systemic lupus erythematosus

A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, c...

Insulin resistance

Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood...

Hyperlipidemia

An elevated lipid concentration in the blood.

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@CFDE Workbench 2026

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.

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.