Hypomyelinating leukodystrophy 3

Definition

Any leukodystrophy in which the cause of the disease is a mutation in the AIMP1 gene.

Also known as AIMP1 leukodystrophy, HLD3, hypomyelinating leukodystrophy 3, hypomyelinating leukodystrophy type 3, leukodystrophy caused by mutation in AIMP1, leukodystrophy, hypomyelinating, type 3, Pelizaeus-Merzbacher-like disease due to AIMP1 mutation — per MONDO

Also identified as

• DOID 0060790 per MONDO
• MESH C536319 per MONDO
• OMIM 260600 per MONDO
• Orphanet 280293 per MONDO
• UMLS C1850053 per MONDO