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Summary Literature (0)
DOID:0060786 - hypomyelinating leukodystrophy


Disease Ontology Definition:A leukodystrophy characterized by improper formation of the myelin sheath in the central nervous system resulting in T2 hyperintensity and variable T1 signal on magnetic resonance imaging.

Synonyms: HLD,

Xenbase Genes : hycc1, vps11, tubb4a, rars1, aimp1, eprs1, hikeshi, gjc2, ufm1, hspd1, aimp2, plp1, polr1c, polr3a, polr3b, [+]

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0019046 - leukodystrophy


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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): leukodystrophy (is_a)