Trait

Abnormality of the spinal cord

Clinical name: Abnormal spinal cord morphology

A structural abnormality of the spinal cord (myelon).

HPO HP:0002143

Also called: Spinal cord disease
Body system: Abnormality of the nervous system

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5 genes linked to Abnormality of the spinal cord

Changes in these genes cause rare conditions in which Abnormality of the spinal cord is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.

Gene	How often it is seen	Conditions
ABCD1ATP binding cassette subfamily D member 1	Very often (80–99%)	In 2 conditions
CCT5chaperonin containing TCP1 subunit 5	Often (30–79%)	In 1 condition
FLVCR1FLVCR choline and heme transporter 1	Sometimes (5–29%)	In 1 condition
GJB2gap junction protein beta 2	Sometimes (5–29%)	In 1 condition
MFN2mitofusin 2	Sometimes (5–29%)	In 1 condition

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Narrower traits

Broader traits

Morphological central nervous system abnormality

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
Data release 2026.10.16-c6eea6bf.

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