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DO Term : hypomyelinating leukodystrophy 19 [DOID:0070400] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A hypomyelinating leukodystrophy characterized by onset of transient neurologic abnormalities in early infancy with resolution within the first or second decades that has_material_basis_in heterozygous mutation in the TMEM63A gene on chromosome 1q42.
  • synonyms:
  • 618688,
  • HLD19,
  • OMIM:618688
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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