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DOID:0060793 - hypomyelinating leukodystrophy 5
Disease Ontology Definition:A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency that has_material_basis_in homozygous mutation in the FAM126A gene on chromosome 7p15.
Synonyms: HLD5, hypomyelination-congenital cataract syndrome,
Echinobase Genes :
MIM:610532 - leukodystrophy, hypomyelinating, 5; hld5 |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
hypomyelinating leukodystrophy (is_a)