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Summary Literature (0)
DOID:0060789 - hypomyelinating leukodystrophy 4


Disease Ontology Definition:A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hypotonia, nystagmus, psychomotor developmental delay, and severe hypomyelinating leukoencephalopathy that has_material_basis_in homozygous mutation in the HSPD1 gene on chromosome 2q33.

Synonyms: HLD4, MitCHAP60 disease, Pelizaeus-Merzbacher-like disease due to HSPD1 mutation, mitochondrial HSP60 chaperonopathy

In OMIM:
OMIM:612233 - LEUKODYSTROPHY, HYPOMYELINATING, 4; HLD4

In Mondo Disease Ontology:
MONDO:0012824 - hypomyelinating leukodystrophy 4

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : hspd1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): hypomyelinating leukodystrophy (is_a)