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Summary Literature (0)
DOID:0060791 - hypomyelinating leukodystrophy 9

Disease Ontology Definition:A hypomyelinating leukodystrophy characterized by delayed psychomotor development, spasticity, and nystagmus starting in the first year of life that has_material_basis_in compound heterozygous mutation in the RARS gene on chromosome 5q34.

Synonyms: HLD9, RARS-related autosomal recessive hypomyelinating leukodystrophy

Xenbase Genes : rars1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0014506 - distal interphalangeal joint of digit 3

MIM:
MIM:616140 - LEUKODYSTROPHY, HYPOMYELINATING, 9; HLD9

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)