hypomyelinating leukodystrophy 3

Summary

DOID:0060790 - hypomyelinating leukodystrophy 3

Disease Ontology Definition:A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system that has_material_basis_in homozygous mutation in the AIMP1 gene on chromosome 4q24.

Synonyms: HLD3, Pelizaeus-Merzbacher-like disease due to AIMP1 mutation,

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

: aimp1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0009843 - hypomyelinating leukodystrophy 3

MONDO:0009843 - hypomyelinating leukodystrophy 3

Other Model Organisms: AGR, 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)