|  Help  |  About  |  Contact Us

DO Term : hypomyelinating leukodystrophy 5 [DOID:0060793] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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:
  • 610532,
  • ORDO:85163,
  • hypomyelination-congenital cataract syndrome,
  • ICD10CM:G37.8,
  • HLD5,
  • OMIM:610532
Quick Links:
 
Quick Links:
 

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents