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Hypomyelinating Leukodystrophy 4 (MONDO:0012824)

Any leukodystrophy in which the cause of the disease is a mutation in the HSPD1 gene.

Overview

Category

Ontology ID

Internal:13864

Synonyms

HLD4

HSPD1 leukodystrophy

MitCHAP60 disease

Pelizaeus-Merzbacher-like disease due to HSPD1 mutation

hypomyelinating leukodystrophy type 4

leukodystrophy caused by mutation in HSPD1

leukodystrophy, hypomyelinating, type 4

mitochondrial HSP60 chaperonopathy

Mitchap60 disease

leukodystrophy, hypomyelinating, 4

mitochondrial Hsp60 chaperonopathy

Mapped terms

DOID:0060789

GARD:0017294

MEDGEN:383026

MESH:C567390

NANDO:1200581

NANDO:2201293

OMIM:612233

Orphanet:280288

UMLS:C2677109

Child terms

Unknown children.