CFDE Data Portal | Phenotype

Phenotype

	Label	Description
	Cleft lip Phenotype (Entity type)	A gap in the lip or lips.
	Cleft palate Phenotype (Entity type)	Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palat...
	Glioma Phenotype (Entity type)	The presence of a glioma, which is a neoplasm of the central nervous system originating from a glial...
	Congenital diaphragmatic hernia Phenotype (Entity type)	The presence of a hernia of the diaphragm present at birth.
	Ataxia Phenotype (Entity type)	Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of el...
	Sensorineural hearing impairment Phenotype (Entity type)	A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlea...
	Abnormality of the genitourinary system Phenotype (Entity type)	The presence of any abnormality of the genitourinary system.
	Abnormal palate morphology Phenotype (Entity type)	Any abnormality of the palate, i.e., of roof of the mouth.
	Scoliosis Phenotype (Entity type)	The presence of an abnormal lateral curvature of the spine.
	T-cell acute lymphoblastic leukemias Phenotype (Entity type)	Acute lymphoblastic leukemia of T-cell origin. It comprises about 15% of childhood cases and 25% of ...

Cleft lip

A gap in the lip or lips.

Cleft palate

Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palat...

Glioma

The presence of a glioma, which is a neoplasm of the central nervous system originating from a glial...

Congenital diaphragmatic hernia

The presence of a hernia of the diaphragm present at birth.

Ataxia

Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of el...

Sensorineural hearing impairment

A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlea...

Abnormality of the genitourinary system

The presence of any abnormality of the genitourinary system.

Abnormal palate morphology

Any abnormality of the palate, i.e., of roof of the mouth.

Scoliosis

The presence of an abnormal lateral curvature of the spine.

T-cell acute lymphoblastic leukemias

Acute lymphoblastic leukemia of T-cell origin. It comprises about 15% of childhood cases and 25% of ...

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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.