hypomyelinating leukodystrophy 5

Summary

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

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

: hycc1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0012514 - hypomyelinating leukodystrophy 5

MONDO:0012514 - hypomyelinating leukodystrophy 5

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)