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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:0019046 - leukodystrophy |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
leukodystrophy (is_a)