"DOID:0060787"^^ . "Pelizaeus-Merzbacher-like disease 1"@en . . _:vb50939394 . _:vb50939394 . "ORDO:280282"^^ . "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."^^ . "PMLD1"@en . "hypomyelinating leukodystrophy 2"^^ . "ICD10CM:E75.2"^^ . _:vb50939394 . . _:vb50939394 . . "Pelizaeus-Merzbacher-like disease due to GJC2 mutation"@en . "disease_ontology"^^ . "HLD2"@en . _:vb50939394 . . "OMIM:608804"^^ .