hypomyelinating leukodystrophy 2

Summary

DOID:0060787 - hypomyelinating leukodystrophy 2

Disease Ontology Definition:A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of nystagmus, impaired motor development, ataxia, choreoathetotic movements, dysarthria, and progressive spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the GJC2 gene on chromosome 1q42.

Synonyms: HLD2, Pelizaeus-Merzbacher-like disease 1, Pelizaeus-Merzbacher-like disease due to GJC2 mutation, PMLD1

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: gjc2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0012125 - hypomyelinating leukodystrophy 2

MONDO:0012125 - hypomyelinating leukodystrophy 2

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), hypomyelinating leukodystrophy (is_a)