Pharos: juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome (1 associated targets)

Disease Summary

Associated Targets (1)

Tbio

1

Uniprot Description

A disease characterized by juvenile-onset diabetes and neurodegeneration, resulting in ataxia, upper-motor-neuron damage, peripheral neuropathy, hearing loss, and cerebral atrophy.

Mondo Term and Equivalent IDs

MONDO:0014523: juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome

OMIM:616192: ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS

Orphanet:445062:

UMLS:C4015436: