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DO Term : hypomyelinating leukodystrophy 12 [DOID:0060796] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of severely delayed or even lack of psychomotor development that becomes apparent in the first months of life, acquired microcephaly and delayed myelination that has_material_basis_in homozygous mutation in the VPS11 gene on chromosome 11q23.
  • synonyms:
  • HLD12,
  • 616683,
  • OMIM:616683
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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