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DO Term : hypomyelinating leukodystrophy 17 [DOID:0070404] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A hypomyelinating leukodystrophy characterized by onset in early infancy of microcephaly and lack of overall development that has_material_basis_in homozygous mutation in the AIMP2 gene on chromosome 7p22.
  • synonyms:
  • OMIM:618006,
  • HLD17,
  • 618006
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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